14 research outputs found
Locating and eliminating feral swine from a large area of fragmented mixed forest and agriculture habitats in north-central USA
- Author
- Publication venue
- DigitalCommons@University of Nebraska - Lincoln
- Publication date
- 01/01/2019
- Field of study
Illinois is one of the US states where elimination of feral swine (Sus scrofa) was determined practical, as only a few isolated populations were established. A particularly important step towards feral swine elimination from Illinois was to eliminate the population in Fulton County. We describe the approaches applied to systematically detect, locate, and eliminate feral swine in a successful county-wide elimination. Detecting and locating feral swine was facilitated by extensive outreach activities, aerial surveys to locate crop damage, and use of camera traps placed over bait in areas where reports, sign, or crop damage occurred. The population was eliminated after 376 feral swine were removed from 2009 to 2016 by trapping, sharpshooting over bait, and aerial shooting. Aerial surveys efficiently located feral swine activity over wide areas during times of the crop cycle when damage would occur and would be most distinguishable from other damage sources. Two applications of aerial shooting in 2014 were particularly efficient for rapidly eliminating most remaining feral swine after they had become difficult to locate and remove. Persistent efforts thereafter led to the successful elimination of feral swine in Fulton County by 2016.We believe this is the first documentation of a widespread feral swine elimination in mixed agriculture and forest habitats
Locating and eliminating feral swine from a large area of fragmented mixed forest and agriculture habitats in north-central USA
- Author
- Publication venue
- DigitalCommons@University of Nebraska - Lincoln
- Publication date
- 01/01/2019
- Field of study
Illinois is one of the US states where elimination of feral swine (Sus scrofa) was determined practical, as only a few isolated populations were established. A particularly important step towards feral swine elimination from Illinois was to eliminate the population in Fulton County. We describe the approaches applied to systematically detect, locate, and eliminate feral swine in a successful county-wide elimination. Detecting and locating feral swine was facilitated by extensive outreach activities, aerial surveys to locate crop damage, and use of camera traps placed over bait in areas where reports, sign, or crop damage occurred. The population was eliminated after 376 feral swine were removed from 2009 to 2016 by trapping, sharpshooting over bait, and aerial shooting. Aerial surveys efficiently located feral swine activity over wide areas during times of the crop cycle when damage would occur and would be most distinguishable from other damage sources. Two applications of aerial shooting in 2014 were particularly efficient for rapidly eliminating most remaining feral swine after they had become difficult to locate and remove. Persistent efforts thereafter led to the successful elimination of feral swine in Fulton County by 2016.We believe this is the first documentation of a widespread feral swine elimination in mixed agriculture and forest habitats
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
- Author
- Acosta Maria T
- Adam Margaret
- Adams David R
- Agrawal Pankaj B
- Alejandro Mercedes E
- Alvey Justin
- Amendola Laura
- Andrews Ashley
- Ashley Euan A
- Azamian Mahshid S
- Bacino Carlos A
- Bademci Guney
- Bajikar Sameer S
- Baker Eva
- Balasubramanya Ashok
- Baldridge Dustin
- Bale Jim
- Bamshad Michael
- Barbouth Deborah
- Bayrak-Toydemir Pinar
- Beck Anita
- Beggs Alan H
- Behrens Edward
- Bejerano Gill
- Bellen Hugo J
- Benke Paul J
- Bennet Jimmy
- Berg-Rood Beverly
- Bernstein Jonathan A
- Berry Gerard T
- Bican Anna
- Bivona Stephanie
- Blue Elizabeth
- Bohnsack John
- Bonnenmann Carsten
- Bonner Devon
- Botto Lorenzo
- Boyd Brenna
- Briere Lauren C
- Brokamp Elly
- Brown Gabrielle
- Burke Elizabeth A
- Burrage Lindsay C
- Butte Manish J
- Byers Peter
- Byrd William E
- Cameron Eric S
- Carey John
- Carrasquillo Olveen
- Chang Ta Chen Peter
- Chanprasert Sirisak
- Chao Hsiao-Tuan
- Chong Josephine S.C
- Clark Gary D
- Coakley Terra R
- Cobban Laurel A
- Cogan Joy D
- Coggins Matthew
- Cole F. Sessions
- Colley Heather A
- Cooper Cynthia M
- Cope Heidi
- Craigen William J
- Crouse Andrew B
- Cunningham Michael
- Dai Hongzheng
- Dasari Surendra
- Davis Joie
- Dayal Jyoti G
- Deardorff Matthew
- Dell’Angelica Esteban C
- Dhar Shweta U
- Dipple Katrina
- Doherty Daniel
- Dorrani Naghmeh
- Doss Argenia L
- Douine Emilie D
- Draper David D
- Duncan Laura
- Dyment David
- D’Souza Precilla
- Earl Dawn
- Eckstein David J
- Emrick Lisa T
- Eng Christine M
- Esteves Cecilia
- Falk Marni
- Fernandez Liliana
- Ferreira Carlos
- Fieg Elizabeth
- Findley Laurie C
- Fisher Paul G
- Fogel Brent L
- Forghani Irman
- Fox Eric J
- Fresard Laure
- Gahl William A
- Glass Ian
- Gochuico Bernadette
- Godfrey Rena A
- Golden-Grant Katie
- Goldman Alica M
- Goldrich Madison P
- Goldstein David B
- Grajewski Alana
- Groden Catherine A
- Gutierrez Irma
- Hahn Sihoun
- Hamid Rizwan
- Hanchard Neil A
- Hassey Kelly
- Hayes Nichole
- High Frances
- Hing Anne
- Hisama Fuki M
- Holm Ingrid A
- Hom Jason
- Horike-Pyne Martha
- Huang Alden
- Huang Yong
- Huryn Laryssa
- Isasi Rosario
- Jamal Fariha
- Jamra Rami Abou
- Jarvik Gail P
- Jarvik Jeffrey
- Jayadev Suman
- Kanca Oguz
- Karaviti Lefkothea
- Kennedy Jennifer
- Kiley Dana
- Klöckner Chiara
- Kohane Isaac S
- Kohler Jennefer N
- Korrick Susan
- Koziura Mary
- Krakow Deborah
- Krasnewich Donna M
- Kravets Elijah
- Krier Joel B
- Lalani Seema R
- Lam Byron
- Lam Christina
- LaMoure Grace L
- Lanpher Brendan C
- Lanza Ian R
- Latham Lea
- LeBlanc Kimberly
- Lee Brendan H
- Lee Hane
- Levitt Roy
- Lewis Richard A
- Licata Thomas
- Lincoln Sharyn A
- Liu Pengfei
- Liu Xue Zhong
- Longo Nicola
- Loo Sandra K
- Loscalzo Joseph
- Luna Alia A
- Maas Richard L
- MacDowall John
- Macnamara Ellen F
- MacRae Calum A
- Maduro Valerie V
- Majcherska Marta M
- Mak Bryan C
- Malicdan May Christine V
- Mamounas Laura A
- Manolio Teri A
- Mao Rong
- Maravilla Kenneth
- Markello Thomas C
- Marom Ronit
- Marth Gabor
- Martin Beth A
- Martin Martin G
- Martínez-Agosto Julian A
- Marwaha Shruti
- McCauley Jacob
- McConkie-Rosell Allyn
- McCormack Colleen E
- McCray Alexa T
- McGee Elisabeth
- Mefford Heather
- Merritt J. Lawrence
- Might Matthew
- Mirzaa Ghayda
- Morava Eva
- Moretti Paolo M
- Mosbrook-Davis Deborah
- Mulvihill John J
- Murdock David R
- Nagy Anna
- Nakano-Okuno Mariko
- Nath Avi
- Nelson Stan F
- Newman John H
- Nicholas Sarah K
- Nickerson Deborah
- Nieves-Rodriguez Shirley
- Novacic Donna
- Oglesbee Devin
- Orengo James P
- Osmond Matthew
- Pace Laura
- Pak Stephen
- Pallais J. Carl
- Palmer Christina GS
- Papp Jeanette C
- Parker Neil H
- Peirce Judy
- Perry Katherine Wesseling
- Phillips Jennifer B
- Phillips John A
- Platzer Konrad
- Posey Jennifer E
- Postlethwait John H
- Potocki Lorraine
- Power Bradley
- Pusey Barbara N
- Quinlan Aaron
- Raja Archana N
- Rao Deepak A
- Raskind Wendy
- Ravenscroft Thomas A
- Renteria Genecee
- Reuter Chloe M
- Rives Lynette
- Robertson Amy K
- Rodan Lance H
- Rojas Samantha
- Rosenfeld Jill A
- Rosenwasser Natalie
- Rossignol Francis
- Ruzhnikov Maura
- Sacco Ralph
- Sampson Jacinda B
- Samson Susan L
- Saporta Mario
- Schaechter Judy
- Schedl Timothy
- Schoch Kelly
- Scott C. Ron
- Scott Daryl A
- Shashi Vandana
- Shin Jimann
- Signer Rebecca
- Silverman Edwin K
- Sinsheimer Janet S
- Sisco Kathy
- Smith Edward C
- Smith Kevin S
- Solem Emily
- Solnica-Krezel Lilianna
- Solomon Ben
- Spillmann Rebecca C
- Stoler Joan M
- Strehlow Vincent
- Sullivan Jennifer A
- Sullivan Kathleen
- Sun Angela
- Sutton Shirley
- Sweetser David A
- Sybert Virginia
- Tabor Holly K
- Tan Amelia L.M
- Tan Queenie K.-G
- Tekin Mustafa
- Telischi Fred
- Thorson Willa
- Thurm Audrey
- Tifft Cynthia J
- Toro Camilo
- Tran Alyssa A
- Tucker Brianna M
- Urv Tiina K
- Vanderver Adeline
- Velinder Matt
- Viskochil Dave
- Vogel Tiphanie P
- Wahl Colleen E
- Walker Melissa
- Wallace Stephanie
- Walley Nicole M
- Walsh Chris A
- Wambach Jennifer
- Wan Jijun
- Wang Lee-kai
- Wangler Michael F
- Ward Patricia A
- Wegner Daniel
- Wegner Jeremy
- Wener Mark
- Wenger Tara
- Westerfield Monte
- Wheeler Matthew T
- Whitlock Jordan
- Wolfe Lynne A
- Woods Jeremy D
- Yamamoto Shinya
- Yan Yi-Lin
- Yang John
- Yousef Muhammad
- Zastrow Diane B
- Zein Wadih
- Zhao Chunli
- Zirin Jonathan
- Zuchner Stephan
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/10/2021
- Field of study
Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. Here, we expand the phenotypic spectrum associated with GDF11 variants and document the nature of the variants.We present a cohort of six probands with de novo and inherited nonsense/frameshift (4/6 patients) and missense (2/6) variants in GDF11. We generated gdf11 mutant zebrafish to model loss of gdf11 phenotypes and used an overexpression screen in Drosophila to test variant functionality.Patients with variants in GDF11 presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). gdf11 mutant zebrafish show craniofacial abnormalities and body segmentation defects that match some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants in our cohort are partial LOF variants.GDF11 is needed for human development, particularly neuronal development, and LOF GDF11 alleles can affect the development of numerous organs and tissues
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
- Author
- Acosta Maria T.
- Adam Margaret
- Adams David R.
- Agrawal Pankaj B.
- Alejandro Mercedes E.
- Alvey Justin
- Amendola Laura
- Andrews Ashley
- Andrews Marisa V.
- Ashley Euan A.
- Azamian Mahshid S.
- Bacino Carlos A.
- Bademci Guney
- Baker Eva
- Balasubramanyam Ashok
- Baldridge Dustin
- Bale Jim
- Bamshad Michael
- Barbouth Deborah
- Bayrak-Toydemir Pinar
- Beck Anita
- Beggs Alan H.
- Behrens Edward
- Bejerano Gill
- Bennett Jimmy
- Berg-Rood Beverly
- Bernstein Jonathan A.
- Berry Gerard T.
- Bican Anna
- Bivona Stephanie
- Blue Elizabeth
- Bohnsack John
- Bonnenmann Carsten
- Bonner Devon
- Botto Lorenzo
- Boyd Brenna
- Briere Lauren C.
- Brokamp Elly
- Brown Gabrielle
- Burke Elizabeth A.
- Burrage Lindsay C.
- Butte Manish J.
- Byers Peter
- Byrd William E.
- Carey John
- Carrasquillo Olveen
- Ceulemans Sophia
- Chang Ta Chen Peter
- Chanprasert Sirisak
- Chao Hsiao-Tuan
- Cheng YuZhu
- Clark Gary D.
- Coakley Terra R.
- Cobban Laurel A.
- Cogan Joy D.
- Coggins Matthew
- Cole F. Sessions
- Colley Heather A.
- Cooper Cynthia M.
- Cope Heidi
- Craigen William J.
- Crouse Andrew B.
- Cunningham Michael
- D'Souza Precilla
- Dai Hongzheng
- Dasari Surendra
- Davis Joie
- Daya Jyoti G.
- Deardorff Matthew
- Dell'Angelica Esteban C.
- Dhar Shweta U.
- Dipple Katrina
- Doherty Daniel
- Dorrani Naghmeh
- Doss Argenia L.
- Douine Emilie D.
- Draper David D.
- Duncan Laura
- Earl Dawn
- Eckstein David J.
- Emrick Lisa T.
- Eng Christine M.
- Erger Florian
- Esteves Cecilia
- Falk Marni
- Fernandez Liliana
- Ferreira Carlos
- Fieg Elizabeth L.
- Findley Laurie C.
- Fisher Paul G.
- Fogel Brent L.
- Forghani Irman
- Fresard Laure
- Gahl William A.
- Glass Ian
- Gochuico Bernadette
- Godfrey Rena A.
- Golden-Grant Katie
- Goldman Alica M.
- Goldrich Madison P.
- Goldstein David B.
- Grajewski Alana
- Grange Dorothy K.
- Groden Catherine A.
- Gutierrez Irma
- Hahn Sihoun
- Haldeman-Englert Chad
- Hamid Rizwan
- Hanchard Neil A.
- Hassey Kelly
- Hayes Nichole
- High Frances
- Hing Anne
- Hisama Fuki M.
- Holm Ingrid A.
- Hom Jason
- Horike-Pyne Martha
- Huang Alden
- Huang Yong
- Huryn Laryssa
- Isasi Rosario
- Jamal Fariha
- Jarvik Gail P.
- Jarvik Jeffrey
- Jayadev Suman
- Karaviti Lefkothea
- Katsonis Panagiotis
- Kennedy Jennifer
- Kessler Elena
- Kiley Dana
- Kohane Isaac S.
- Kohler Jennefer N.
- Korrick Susan
- Kozuira Mary
- Krakow Deborah
- Krasnewich Donna M.
- Kravets Elijah
- Krier Joel B.
- Lalani Seema R.
- Lam Byron
- Lam Christina
- LaMoure Grace L.
- Lanpher Brendan C.
- Lanza Ian R.
- Latham Lea
- Laugsch Magdalena
- LeBlanc Kimberly
- Lee Brendan H.
- Lee Hane
- Levitt Roy
- Lewis Richard A.
- Lichtarge Olivier
- Lincoln Sharyn A.
- Liu Pengfei
- Liu Xue Zhong
- London Edra
- Longo Nicola
- Loo Sandra K.
- Loscalzo Joseph
- Maas Richard L.
- MacDowall John
- Macnamara Ellen F.
- MacRae Calum A.
- Maduro Valerie V.
- Majcherska Marta M.
- Mak Bryan C.
- Malicdan May Christine V.
- Mamounas Laura A.
- Manolio Teri A.
- Mao Rong
- Maravilla Kenneth
- Marbach Felix
- Markello Thomas C.
- Marom Ronit
- Marth Gabor
- Martin Beth A.
- Martin Martin G.
- Martinez-Agosto Julian A.
- Martinez-Agosto Julian A.
- Marwaha Shruti
- McCauley Jacob
- McConkie-Rosell Allyn
- McCormack Colleen E.
- McCray Alexa T.
- McGee Elisabeth
- Mefford Heather
- Merritt J. Lawrence
- Might Matthew
- Mirzaa Ghayda
- Morava Eva
- Moretti Paolo
- Moretti Paolo M.
- Mosbrook-Davis Deborah
- Mulvihill John J.
- Murdock David R.
- Nagy Anna
- Nakano-Okuno Mariko
- Nath Avi
- Nelson Stanley F.
- Nelson Stanley F.
- Newman John H.
- Nicholas Sarah K.
- Nickerson Deborah
- Nieves-Rodriguez Shirley
- Novacic Donna
- Oglesbee Devin
- Orengo James P.
- Pace Laura
- Pak Stephen
- Pallais J. Carl
- Palmer Christina G. S.
- Palmer Christina G. S.
- Papp Jeanette C.
- Parker Neil H.
- Perry Katherine Wesseling
- Person Richard
- Phillips John A., III
- Posey Jennifer E.
- Potocki Lorraine
- Power Bradley
- Pusey Barbara N.
- Quinlan Aaron
- Raja Archana N.
- Rao Deepak A.
- Raskind Wendy
- Renteria Genecee
- Reuter Chloe M.
- Rives Lynette
- Robertson Amy K.
- Rodan Lance H.
- Rosenfeld Jill A.
- Rosenfeld Jill A.
- Rosenwasser Natalie
- Rossignol Francis
- Ruzhnikov Maura
- Sacco Ralph
- Sampson Jacinda B.
- Samson Susan L.
- Saporta Mario
- Schaaf Christian P.
- Schaechter Judy
- Schedl Timothy
- Schoch Kelly
- Scott C. Ron
- Scott Daryl A.
- Settas Nikolaos
- Shashi Vandana
- Shin Jimann
- Sievers Aaron
- Signer Rebecca H.
- Signer Rebecca H.
- Silverman Edwin K.
- Sinsheimer Janet S.
- Sisco Kathy
- Sklirou Evgenia
- Smith Edward C.
- Smith Kevin S.
- Solem Emily
- Solnica-Krezel Lilianna
- Spillmann Rebecca C.
- Stocco Amber
- Stoler Joan M.
- Stoyanov Georgi
- Stratakis Constantine A.
- Sullivan Jennifer A.
- Sullivan Kathleen
- Sun Angela
- Sutton Shirley
- Sweetser David A.
- Sybert Virginia
- Tabor Holly K.
- Tan Amelia L. M.
- Tan Queenie K. -G.
- Tekin Mustafa
- Telegrafi Aida
- Telischi Fred
- Theiss Susanne
- Thorson Willa
- Thurm Audrey
- Tifft Cynthia J.
- Toro Camilo
- Torti Erin
- Tran Alyssa A.
- Tucker Brianna M.
- Urv Tiina K.
- Vanderver Adeline
- Velinder Matt
- Viskochil Dave
- Vogel Tiphanie P.
- Wahl Colleen E.
- Walker Melissa
- Wallace Stephanie
- Walley Nicole M.
- Walsh Chris A.
- Wambach Jennifer
- Wan Jijun
- Wang Lee-kai
- Wangler Michael F.
- Ward Patricia A.
- Wegner Daniel
- Wener Mark
- Wenger Tara
- Westerfield Monte
- Wheeler Matthew T.
- Whitlock Jordan
- Willaert Rebecca
- Wolfe Lynne A.
- Woods Jeremy D.
- Yamamoto Shinya
- Yang John
- Yousef Muhammad
- Zastrow Diane B.
- Zein Wadih
- Zhao Chunli
- Zuchner Stephan
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
Purpose We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1 beta subunit of the cyclic AMP-dependent protein kinase A (PKA). Methods Variants of PRKAR1B were identified by single- or trio-exome analysis. We contacted the families and physicians of the six individuals to collect phenotypic information, performed in vitro analyses of the identified PRKAR1B-variants, and investigated PRKAR1B expression during embryonic development. Results Recent studies of large patient cohorts with neurodevelopmental disorders found significant enrichment of de novo missense variants in PRKAR1B. In our cohort, de novo origin of the PRKAR1B variants could be confirmed in five of six individuals, and four carried the same heterozygous de novo variant c.1003C>T (p.Arg335Trp; NM_001164760). Global developmental delay, autism spectrum disorder, and apraxia/dyspraxia have been reported in all six, and reduced pain sensitivity was found in three individuals carrying the c.1003C>T variant. PRKAR1B expression in the brain was demonstrated during human embryonal development. Additionally, in vitro analyses revealed altered basal PKA activity in cells transfected with variant-harboring PRKAR1B expression constructs. Conclusion Our study provides strong evidence for a PRKAR1B-related neurodevelopmental disorder
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)
- Author
- Acosta Maria T.
- Adam Margaret
- Adams David R.
- Agrawal Pankaj B.
- Alejandro Mercedes E.
- Alvey Justin
- Amendola Laura
- Andrews Ashley
- Ashley Euan A.
- Azamian Mahshid S.
- Bacino Carlos A.
- Bademci Guney
- Baker Eva
- Bakhtiari Somayeh
- Balasubramanyam Ashok
- Baldridge Dustin
- Bale Jim
- Bamshad Michael
- Barbouth Deborah
- Barth Magalie
- Bayrak-Toydemir Pinar
- Beck Anita
- Beggs Alan H.
- Begtrup Amber
- Behrens Edward
- Bejerano Gill
- Bennett Jimmy
- Berg-Rood Beverly
- Bernstein Jonathan A.
- Berry Gerard T.
- Bican Anna
- Bivona Stephanie
- Blue Elizabeth
- Bohnsack John
- Bonnenmann Carsten
- Bonner Devon
- Botto Lorenzo
- Boyd Brenna
- Brady Lauren
- Brault Jennifer
- Briere Lauren C.
- Brokamp Elly
- Brokamp Elly
- Brown Gabrielle
- Burke Elizabeth A.
- Burrage Lindsay C.
- Butte Manish J.
- Byers Peter
- Byrd William E.
- Carey John
- Carrasquillo Olveen
- Cassiman David
- Chang Ta Chen Peter
- Chanprasert Sirisak
- Chao Hsiao Tuan
- Chong Karen
- Clark Gary D.
- Coakley Terra R.
- Cobban Laurel A.
- Cogan Joy D.
- Coggins Matthew
- Cole F. Sessions
- Colley Heather A.
- Cooper Cynthia M.
- Cope Heidi
- Craigen William J.
- Crouse Andrew B.
- Cunningham Michael
- Dai Hongzheng
- Dasari Surendra
- Davis Joie
- Dayal Jyoti G.
- Deardorff Matthew
- Dell’Angelica Esteban C.
- Dhar Shweta U.
- Dipple Katrina
- Doherty Daniel
- Dorrani Naghmeh
- Doss Argenia L.
- Douglas Jessica
- Douine Emilie D.
- Drack Arlene V.
- Draper David D.
- Duncan Laura
- D’Souza Precilla
- Earl Dawn
- Eckstein David J.
- Ellingwood Sara
- Emrick Lisa T.
- Eng Christine M.
- Esteves Cecilia
- Falk Marni
- Ferdinandusse Sacha
- Fernandez Liliana
- Ferreira Carlos
- Fieg Elizabeth L.
- Findley Laurie C.
- Fisher Paul G.
- Fogel Brent L.
- Forghani Irman
- Fresard Laure
- Gaebler-Spira Deborah
- Gahl William A.
- Gahl William A.
- Glass Ian
- Gochuico Bernadette
- Godfrey Rena A.
- Golden-Grant Katie
- Goldman Alica M.
- Goldrich Madison P.
- Goldstein David B.
- Grajewski Alana
- Groden Catherine A.
- Guillen Sacoto Maria J.
- Gutierrez Irma
- Hahn Sihoun
- Hamid Rizwan
- Hanchard Neil A.
- Hassey Kelly
- Hayes Nichole
- High Frances
- Hing Anne
- Hisama Fuki M.
- Holm Ingrid A.
- Hom Jason
- Horike-Pyne Martha
- Huang Alden
- Huang Yong
- Huryn Laryssa
- IJlst Lodewijk
- Isasi Rosario
- Jamal Fariha
- Jarvik Gail P.
- Jarvik Jeffrey
- Jayadev Suman
- Karaviti Lefkothea
- Kelley Emily G.
- Kennedy Jennifer
- Kiley Dana
- Kohane Isaac S.
- Kohler Jennefer N.
- Korrick Susan
- Kozuira Mary
- Krakow Deborah
- Krasnewich Donna M.
- Kravets Elijah
- Krier Joel B.
- Kruer Michael C.
- Ladda Roger L.
- Lalani Seema R.
- Lam Byron
- Lam Christina
- LaMoure Grace L.
- Lanpher Brendan C.
- Lanza Ian R.
- Latham Lea
- LeBlanc Kimberly
- Lee Brendan H.
- Lee Hane
- Levitt Roy
- Lewis Richard A.
- Lincoln Sharyn A.
- Liu Pengfei
- Liu Xue Zhong
- Longo Nicola
- Loo Sandra K.
- Loscalzo Joseph
- Maas Richard L.
- MacDowall John
- Macnamara Ellen F.
- Macnamara Ellen F.
- MacRae Calum A.
- Maduro Valerie V.
- Majcherska Marta M.
- Mak Bryan C.
- Malicdan May Christine V.
- Mamounas Laura A.
- Manolio Teri A.
- Mao Rong
- Maravilla Kenneth
- Markello Thomas C.
- Marom Ronit
- Marth Gabor
- Martin Beth A.
- Martin Martin G.
- Martin Nicole
- Martínez-Agosto Julian A.
- Marwaha Shruti
- McCauley Jacob
- McConkie-Rosell Allyn
- McCormack Colleen E.
- McCray Alexa T.
- McGee Elisabeth
- McWalter Kirsty
- Mefford Heather
- Merritt J. Lawrence
- Might Matthew
- Millan Francisca
- Mirzaa Ghayda
- Mooijer Petra M.
- Morava Eva
- Moretti Paolo
- Moretti Paolo
- Mosbrook-Davis Deborah
- Mulvihill John J.
- Murdock David R.
- Nagy Anna
- Nakano-Okuno Mariko
- Nath Avi
- Nelson Stanley F.
- Newman John H.
- Nicholas Sarah K.
- Nickerson Deborah
- Nieves-Rodriguez Shirley
- Novacic Donna
- Nowak Catherine B.
- Oglesbee Devin
- Orengo James P.
- Pace Laura
- Pak Stephen
- Pallais J. Carl
- Palmer Christina G.S.
- Papp Jeanette C.
- Parker Neil H.
- Perlman Seth
- Perry Katherine Wesseling
- Phillips John A.
- Posey Jennifer E.
- Potocki Lorraine
- Power Bradley
- Pras-Raves Mia
- Pusey Barbara N.
- Quinlan Aaron
- Raja Archana N.
- Rao Deepak A.
- Raskind Wendy
- Renteria Genecee
- Reuter Chloe M.
- Rives Lynette
- Robertson Amy K.
- Rodan Lance H.
- Rosenfeld Jill A.
- Rosenwasser Natalie
- Rossignol Francis
- Ruiter Jos P.N.
- Ruzhnikov Maura
- Sacco Ralph
- Sampson Jacinda B.
- Samson Susan L.
- Saporta Mario
- Schaechter Judy
- Schedl Timothy
- Schoch Kelly
- Scott C. Ron
- Scott Daryl A.
- Sell Susan L.
- Shashi Vandana
- Shin Jimann
- Signer Rebecca H.
- Silverman Edwin K.
- Sinsheimer Janet S.
- Sisco Kathy
- Smith Edward C.
- Smith Kevin S.
- Smith Rosemarie
- Solem Emily
- Solnica-Krezel Lilianna
- Solomon Ben
- Spillmann Rebecca C.
- Stoler Joan M.
- Sullivan Jennifer A.
- Sullivan Kathleen
- Sun Angela
- Sutton Shirley
- Sweetser David A.
- Sybert Virginia
- Tabor Holly K.
- Tan Queenie K.G.
- Tarnopolsky Mark
- te Brinke Heleen
- Tekin Mustafa
- Telischi Fred
- Thorson Willa
- Thurm Audrey
- Tian Cuixia
- Tifft Cynthia J.
- Toro Camilo
- Toro Camilo
- Tran Alyssa A.
- Tucker Brianna M.
- Ulm Elizabeth
- Urv Tiina K.
- van Kampen Antoine H.C.
- van Lint Alida E.M.
- Vanderver Adeline
- Vaz Frédéric M.
- Velinder Matt
- Viskochil Dave
- Vogel Tiphanie P.
- Wahl Colleen E.
- Waisfisz Quinten
- Walker Melissa
- Wallace Stephanie
- Walley Nicole M.
- Walsh Chris A.
- Wambach Jennifer
- Wan Jijun
- Wanders Ronald J.A.
- Wang Lee kai
- Wangler Michael F.
- Ward Patricia A.
- Waterham Hans R.
- Wegner Daniel
- Wener Mark
- Wenger Tara
- Westerfield Monte
- Wever Eric
- Wheeler Matthew T.
- Whitlock Jordan
- Wolfe Lynne A.
- Wolfe Lynne A.
- Woods Jeremy D.
- Yamamoto Shinya
- Yang John
- Yousef Muhammad
- Zastrow Diane B.
- Zein Wadih
- Zhao Chunli
- Ziegler Alban
- Zuchner Stephan
- Zwijnenburg Petra J.G.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
In the original author list, Seth Perlman’s degrees were listed as MD, PhD. Dr Perlman’s degree is MD. The original version has been corrected
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
- Author
- Acosta Maria T.
- Adam Margaret
- Adams David R.
- Agrawal Pankaj B.
- Alejandro Mercedes E.
- Alvey Justin
- Amendola Laura
- Andrews Ashley
- Ashley Euan A.
- Azamian Mahshid S.
- Bacino Carlos A.
- Bademci Guney
- Baker Eva
- Bakhtiari Somayeh
- Balasubramanyam Ashok
- Baldridge Dustin
- Bale Jim
- Bamshad Michael
- Barbouth Deborah
- Barth Magalie
- Bayrak-Toydemir Pinar
- Beck Anita
- Beggs Alan H.
- Begtrup Amber
- Behrens Edward
- Bejerano Gill
- Bennett Jimmy
- Berg-Rood Beverly
- Bernstein Jonathan A.
- Berry Gerard T.
- Bican Anna
- Bivona Stephanie
- Blue Elizabeth
- Bohnsack John
- Bonnenmann Carsten
- Bonner Devon
- Botto Lorenzo
- Boyd Brenna
- Brady Lauren
- Brault Jennifer
- Briere Lauren C.
- Brokamp Elly
- Brokamp Elly
- Brown Gabrielle
- Burke Elizabeth A.
- Burrage Lindsay C.
- Butte Manish J.
- Byers Peter
- Byrd William E.
- Carey John
- Carrasquillo Olveen
- Cassiman David
- Chang Ta Chen Peter
- Chanprasert Sirisak
- Chao Hsiao Tuan
- Chong Karen
- Clark Gary D.
- Coakley Terra R.
- Cobban Laurel A.
- Cogan Joy D.
- Coggins Matthew
- Cole F. Sessions
- Colley Heather A.
- Cooper Cynthia M.
- Cope Heidi
- Craigen William J.
- Crouse Andrew B.
- Cunningham Michael
- Dai Hongzheng
- Dasari Surendra
- Davis Joie
- Dayal Jyoti G.
- Deardorff Matthew
- Dell’Angelica Esteban C.
- Dhar Shweta U.
- Dipple Katrina
- Doherty Daniel
- Dorrani Naghmeh
- Doss Argenia L.
- Douglas Jessica
- Douine Emilie D.
- Drack Arlene V.
- Draper David D.
- Duncan Laura
- D’Souza Precilla
- Earl Dawn
- Eckstein David J.
- Ellingwood Sara
- Emrick Lisa T.
- Eng Christine M.
- Esteves Cecilia
- Falk Marni
- Ferdinandusse Sacha
- Fernandez Liliana
- Ferreira Carlos
- Fieg Elizabeth L.
- Findley Laurie C.
- Fisher Paul G.
- Fogel Brent L.
- Forghani Irman
- Fresard Laure
- Gaebler-Spira Deborah
- Gahl William A.
- Gahl William A.
- Glass Ian
- Gochuico Bernadette
- Godfrey Rena A.
- Golden-Grant Katie
- Goldman Alica M.
- Goldrich Madison P.
- Goldstein David B.
- Grajewski Alana
- Groden Catherine A.
- Guillen Sacoto Maria J.
- Gutierrez Irma
- Hahn Sihoun
- Hamid Rizwan
- Hanchard Neil A.
- Hassey Kelly
- Hayes Nichole
- High Frances
- Hing Anne
- Hisama Fuki M.
- Holm Ingrid A.
- Hom Jason
- Horike-Pyne Martha
- Huang Alden
- Huang Yong
- Huryn Laryssa
- IJlst Lodewijk
- Isasi Rosario
- Jamal Fariha
- Jarvik Gail P.
- Jarvik Jeffrey
- Jayadev Suman
- Karaviti Lefkothea
- Kelley Emily G.
- Kennedy Jennifer
- Kiley Dana
- Kohane Isaac S.
- Kohler Jennefer N.
- Korrick Susan
- Kozuira Mary
- Krakow Deborah
- Krasnewich Donna M.
- Kravets Elijah
- Krier Joel B.
- Kruer Michael C.
- Ladda Roger L.
- Lalani Seema R.
- Lam Byron
- Lam Christina
- LaMoure Grace L.
- Lanpher Brendan C.
- Lanza Ian R.
- Latham Lea
- LeBlanc Kimberly
- Lee Brendan H.
- Lee Hane
- Levitt Roy
- Lewis Richard A.
- Lincoln Sharyn A.
- Liu Pengfei
- Liu Xue Zhong
- Longo Nicola
- Loo Sandra K.
- Loscalzo Joseph
- Maas Richard L.
- MacDowall John
- Macnamara Ellen F.
- Macnamara Ellen F.
- MacRae Calum A.
- Maduro Valerie V.
- Majcherska Marta M.
- Mak Bryan C.
- Malicdan May Christine V.
- Mamounas Laura A.
- Manolio Teri A.
- Mao Rong
- Maravilla Kenneth
- Markello Thomas C.
- Marom Ronit
- Marth Gabor
- Martin Beth A.
- Martin Martin G.
- Martin Nicole
- Martínez-Agosto Julian A.
- Marwaha Shruti
- McCauley Jacob
- McConkie-Rosell Allyn
- McCormack Colleen E.
- McCray Alexa T.
- McGee Elisabeth
- McWalter Kirsty
- Mefford Heather
- Merritt J. Lawrence
- Might Matthew
- Millan Francisca
- Mirzaa Ghayda
- Mooijer Petra M.
- Morava Eva
- Moretti Paolo
- Moretti Paolo
- Mosbrook-Davis Deborah
- Mulvihill John J.
- Murdock David R.
- Nagy Anna
- Nakano-Okuno Mariko
- Nath Avi
- Nelson Stanley F.
- Newman John H.
- Nicholas Sarah K.
- Nickerson Deborah
- Nieves-Rodriguez Shirley
- Novacic Donna
- Nowak Catherine B.
- Oglesbee Devin
- Orengo James P.
- Pace Laura
- Pak Stephen
- Pallais J. Carl
- Palmer Christina G.S.
- Papp Jeanette C.
- Parker Neil H.
- Perlman Seth
- Perry Katherine Wesseling
- Phillips John A.
- Posey Jennifer E.
- Potocki Lorraine
- Power Bradley
- Pras-Raves Mia
- Pusey Barbara N.
- Quinlan Aaron
- Raja Archana N.
- Rao Deepak A.
- Raskind Wendy
- Renteria Genecee
- Reuter Chloe M.
- Rives Lynette
- Robertson Amy K.
- Rodan Lance H.
- Rosenfeld Jill A.
- Rosenwasser Natalie
- Rossignol Francis
- Ruiter Jos P.N.
- Ruzhnikov Maura
- Sacco Ralph
- Sampson Jacinda B.
- Samson Susan L.
- Saporta Mario
- Schaechter Judy
- Schedl Timothy
- Schoch Kelly
- Scott C. Ron
- Scott Daryl A.
- Sell Susan L.
- Shashi Vandana
- Shin Jimann
- Signer Rebecca H.
- Silverman Edwin K.
- Sinsheimer Janet S.
- Sisco Kathy
- Smith Edward C.
- Smith Kevin S.
- Smith Rosemarie
- Solem Emily
- Solnica-Krezel Lilianna
- Solomon Ben
- Spillmann Rebecca C.
- Stoler Joan M.
- Sullivan Jennifer A.
- Sullivan Kathleen
- Sun Angela
- Sutton Shirley
- Sweetser David A.
- Sybert Virginia
- Tabor Holly K.
- Tan Queenie K.G.
- Tarnopolsky Mark
- te Brinke Heleen
- Tekin Mustafa
- Telischi Fred
- Thorson Willa
- Thurm Audrey
- Tian Cuixia
- Tifft Cynthia J.
- Toro Camilo
- Toro Camilo
- Tran Alyssa A.
- Tucker Brianna M.
- Ulm Elizabeth
- Urv Tiina K.
- van Kampen Antoine H.C.
- van Lint Alida E.M.
- Vanderver Adeline
- Vaz Frédéric M.
- Velinder Matt
- Viskochil Dave
- Vogel Tiphanie P.
- Wahl Colleen E.
- Waisfisz Quinten
- Walker Melissa
- Wallace Stephanie
- Walley Nicole M.
- Walsh Chris A.
- Wambach Jennifer
- Wan Jijun
- Wanders Ronald J.A.
- Wang Lee kai
- Wangler Michael F.
- Ward Patricia A.
- Waterham Hans R.
- Wegner Daniel
- Wener Mark
- Wenger Tara
- Westerfield Monte
- Wever Eric
- Wheeler Matthew T.
- Whitlock Jordan
- Wolfe Lynne A.
- Wolfe Lynne A.
- Woods Jeremy D.
- Yamamoto Shinya
- Yang John
- Yousef Muhammad
- Zastrow Diane B.
- Zein Wadih
- Zhao Chunli
- Ziegler Alban
- Zuchner Stephan
- Zwijnenburg Petra J.G.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/04/2021
- Field of study
Purpose: In this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu). Methods: Following next-generation sequencing and clinical phenotyping, functional characterization was performed in patients’ fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics. Results: All patients had spastic paraparesis and bilateral congenital/juvenile cataracts, in most combined with speech and gross motor developmental delay and truncal hypotonia. FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients’ fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production. Conclusion: Heterozygous de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency and a diametrically opposed biochemical phenotype. Our findings show that for patients with spastic paraparesis and bilateral cataracts, FAR1 should be considered as a candidate gene and added to gene panels for hereditary spastic paraplegia, cerebral palsy, and juvenile cataracts
Recommended from our members
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
- Author
- Acosta Maria T
- Adam Margaret
- Adams David R
- Agrawal Pankaj B
- Alejandro Mercedes E
- Alkelai Anna
- Alvey Justin
- Amendola Laura
- Andrews Ashley
- Antonarakis Stylianos E
- Ashley Euan A
- Atallah Isis
- Au Ping Yee Billie
- Azamian Mahshid S
- Bacino Carlos A
- Bademci Guney
- Baker Eva
- Balasubramanyam Ashok
- Baldridge Dustin
- Bale Jim
- Bamshad Michael
- Bar-Yosef Omer
- Barbouth Deborah
- Bayrak-Toydemir Pinar
- Beck Anita
- Beggs Alan H
- Behrens Edward
- Bejerano Gill
- Bennett Jimmy
- Berg-Rood Beverly
- Bernstein Jonathan A
- Berry Gerard T
- Bican Anna
- Bilan Frédéric
- Bivona Stephanie
- Bjorgo Kathrine
- Blanc Xavier
- Blue Elizabeth
- Bohnsack John
- Bolkier Yoav
- Bonnenmann Carsten
- Bonner Devon
- Botto Lorenzo
- Boyd Brenna
- Briere Lauren C
- Brokamp Elly
- Brown Gabrielle
- Burke Elizabeth A
- Burrage Lindsay C
- Butte Manish J
- Byers Peter
- Byrd William E
- Carey John
- Carrasquillo Olveen
- Chang Ta Chen Peter
- Chanprasert Sirisak
- Chao Hsiao-Tuan
- Christ Björn U
- Clark Gary D
- Coakley Terra R
- Cobban Laurel A
- Cogan Joy D
- Coggins Matthew
- Cole F. Sessions
- Colley Heather A
- Cooper Cynthia M
- Cope Heidi
- Craigen William J
- Crouse Andrew B
- Cunningham Michael
- Dai Hongzheng
- Dasari Surendra
- Davis Joie
- Dayal Jyoti G
- Deardorff Matthew
- Dell’Angelica Esteban C
- Dhar Shweta U
- Dickson Patricia
- Dipple Katrina
- Doherty Daniel
- Donald Kirsten A
- Dorrani Naghmeh
- Doss Argenia L
- Douine Emilie D
- Draper David D
- Dubourg Christèle
- Duncan Laura
- D’Souza Precilla
- Earl Dawn
- Eckstein David J
- Eliyahu Aviva
- Emrick Lisa
- Eng Christine M
- Engleman Kendra
- Esteves Cecilia
- Falk Marni
- Fernandez Liliana
- Ferreira Carlos
- Fieg Elizabeth L
- Findley Laurie C
- Fisher Paul G
- Fogel Brent L
- Forghani Irman
- Fresard Laure
- Gahl William A
- Glass Ian
- Gochuico Bernadette
- Godfrey Rena A
- Golden-Grant Katie
- Goldman Alica M
- Goldrich Madison P
- Goldstein David B
- Gonfiantini Michaela Veronika
- Good Jean-Marc
- Grajewski Alana
- Granadillo Jorge L
- Groden Catherine A
- Gutierrez Irma
- Hahn Sihoun
- Hamid Rizwan
- Hanchard Neil A
- Hassey Kelly
- Hayes Nichole
- High Frances
- Hing Anne
- Hisama Fuki M
- Holm Ingrid A
- Hom Jason
- Horike-Pyne Martha
- Huang Alden
- Huang Yong
- Huryn Laryssa
- Isasi Rosario
- Jamal Fariha
- Jarvik Gail P
- Jarvik Jeffrey
- Jayadev Suman
- Kalser Judith
- Karaviti Lefkothea
- Kelley Emily G
- Kennedy Jennifer
- Kiley Dana
- Kloeckner Chiara
- Kohane Isaac S
- Kohler Jennefer N
- Korrick Susan
- Kozuira Mary
- Krakow Deborah
- Krasnewich Donna M
- Kravets Elijah
- Krier Joel B
- Kurata Harley T
- Lachmeijer Guus
- Lalani Seema R
- Lam Byron
- Lam Christina
- Lamothe Shawn M
- LaMoure Grace L
- Lanpher Brendan C
- Lanza Ian R
- Latham Lea
- LeBlanc Kimberly
- Lee Brendan H
- Lee Hane
- Levitt Roy
- Lewis Richard A
- Lincoln Sharyn A
- Liu Pengfei
- Liu Xue Zhong
- Longo Nicola
- Loo Sandra K
- Loscalzo Joseph
- Maas Richard L
- Macchiaiolo Marina
- MacDowall John
- Macnamara Ellen F
- MacRae Calum A
- Maduro Valerie V
- Maghera Jasmine
- Majcherska Marta M
- Mak Bryan C
- Malicdan May Christine V
- Mamounas Laura A
- Manolio Teri A
- Mao Rong
- Maravilla Kenneth
- Markello Thomas C
- Marom Ronit
- Marth Gabor
- Martin Beth A
- Martin Martin G
- Martínez-Agosto Julian A
- Marwaha Shruti
- McCauley Jacob
- McConkie-Rosell Allyn
- McCormack Colleen E
- McCray Alexa T
- McGee Elisabeth
- Mefford Heather
- Merritt J. Lawrence
- Might Matthew
- Mirzaa Ghayda
- Morava Eva
- Moretti Paolo M
- Mosbrook-Davis Deborah
- Mulvihill John J
- Murdock David R
- Nagy Anna
- Nakano-Okuno Mariko
- Nath Avi
- Nelson Stanley F
- Nicholas Sarah K
- Nicita Francesco
- Nickerson Deborah
- Nieves-Rodriguez Shirley
- Novacic Donna
- Odent Sylvie
- Oglesbee Devin
- Orengo James P
- Ortiz-Gonzalez Xilma
- O’Heir Emily
- Pace Laura
- Pacio-Miguez Marta
- Pak Stephen
- Pallais J. Carl
- Palmer Christina G.S
- Palomares-Bralo María
- Papp Jeanette C
- Parker Neil H
- Pena Loren
- Perry Katherine Wesseling
- PhillipsIII John A
- Pitt Geoffrey S
- Platzer Konrad
- Pode-Shakked Ben
- Posey Jennifer E
- Potocki Lorraine
- Power Bradley
- Pusey Barbara N
- Quinlan Aaron
- Quinodoz Mathieu
- Raja Archana N
- Ranza Emmanuelle
- Rao Deepak A
- Raskind Wendy
- Renteria Genecee
- Reuter Chloe M
- Rives Lynette
- Robertson Amy K
- Rodan Lance H
- Rosenfeld Jill A
- Rosenwasser Natalie
- Rossignol Francis
- Roulet-Perez Eliane
- Rush Eric
- Ruzhnikov Maura
- Sacco Ralph
- Sampson Jacinda B
- Samson Susan L
- Santani Avni
- Santos-Simarro Fernando
- Saporta Mario
- Schaechter Judy
- Schedl Timothy
- Schoch Kelly
- Scott C. Ron
- Scott Daryl A
- Shashi Vandana
- Shin Jimann
- Signer Rebecca H
- Silverman Edwin K
- Sinsheimer Janet S
- Sisco Kathy
- Skraban Cara
- Slaugh Rachel
- Smith Edward C
- Smith Kevin S
- Solem Emily
- Solnica-Krezel Lilianna
- Solomon Ben
- Spillmann Rebecca C
- Stoler Joan M
- Sullivan Jennifer A
- Sullivan Kathleen
- Sun Angela
- Superti-Furga Andrea
- Sutton Shirley
- Sweetser David A
- Sybert Virginia
- Tabor Holly K
- Tan Queenie K.-G
- Tekin Mustafa
- Telischi Fred
- Thiffault Isabelle
- Thorson Willa
- Thurm Audrey
- Tifft Cynthia J
- Toro Camilo
- Tran Alyssa A
- Tucker Brianna M
- Urv Tiina K
- Van Bogaert Patrick
- van Jaabrsveld Richard H
- Vanderver Adeline
- Velinder Matt
- Vincent Marie
- Viskochil Dave
- Vogel Tiphanie P
- Wahl Colleen E
- Walker Melissa
- Wallace Stephanie
- Walley Nicole M
- Walsh Chris A
- Wambach Jennifer
- Wan Jijun
- Wang Hong-Gang
- Wang Lee-kai
- Wangler Michael F
- Ward Patricia A
- Wegner Daniel
- Wener Mark
- Wenger Tara
- Westerfield Monte
- Wheeler Matthew T
- Whitlock Jordan
- Wolfe Lynne A
- Woods Jeremy D
- Yamamoto Shinya
- Yang John
- Yousef Muhammad
- Zacher Pia
- Zastrow Diane B
- Zein Wadih
- Zhao Chunli
- Zuchner Stephan
- Publication venue
- Elsevier Inc
- Publication date
- 01/10/2021
- Field of study
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
- Author
- Acosta Maria T
- Adam Margaret
- Adams David R
- Agrawal Pankaj B
- Alejandro Mercedes E
- Alkelai Anna
- Alvey Justin
- Amendola Laura
- Andrews Ashley
- Antonarakis Stylianos E
- Ashley Euan A
- Atallah Isis
- Au Ping Yee Billie
- Azamian Mahshid S
- Bacino Carlos A
- Bademci Guney
- Baker Eva
- Balasubramanyam Ashok
- Baldridge Dustin
- Bale Jim
- Bamshad Michael
- Bar-Yosef Omer
- Barbouth Deborah
- Bayrak-Toydemir Pinar
- Beck Anita
- Beggs Alan H
- Behrens Edward
- Bejerano Gill
- Bennett Jimmy
- Berg-Rood Beverly
- Bernstein Jonathan A
- Berry Gerard T
- Bican Anna
- Bilan Frédéric
- Bivona Stephanie
- Bjorgo Kathrine
- Blanc Xavier
- Blue Elizabeth
- Bohnsack John
- Bolkier Yoav
- Bonnenmann Carsten
- Bonner Devon
- Botto Lorenzo
- Boyd Brenna
- Briere Lauren C
- Brokamp Elly
- Brown Gabrielle
- Burke Elizabeth A
- Burrage Lindsay C
- Burrage Lindsay C
- Butte Manish J
- Byers Peter
- Byrd William E
- Carey John
- Carrasquillo Olveen
- Chang Ta Chen Peter
- Chanprasert Sirisak
- Chao Hsiao-Tuan
- Christ Björn U
- Clark Gary D
- Coakley Terra R
- Cobban Laurel A
- Cogan Joy D
- Coggins Matthew
- Cole F. Sessions
- Colley Heather A
- Cooper Cynthia M
- Cope Heidi
- Craigen William J
- Crouse Andrew B
- Cunningham Michael
- Dai Hongzheng
- Dasari Surendra
- Davis Joie
- Dayal Jyoti G
- Deardorff Matthew
- Dell’Angelica Esteban C
- Dhar Shweta U
- Dickson Patricia
- Dipple Katrina
- Doherty Daniel
- Donald Kirsten A
- Dorrani Naghmeh
- Doss Argenia L
- Douine Emilie D
- Draper David D
- Dubourg Christèle
- Duncan Laura
- D’Souza Precilla
- Earl Dawn
- Eckstein David J
- Eliyahu Aviva
- Emrick Lisa
- Emrick Lisa T
- Eng Christine M
- Engleman Kendra
- Esteves Cecilia
- Falk Marni
- Fernandez Liliana
- Ferreira Carlos
- Fieg Elizabeth L
- Findley Laurie C
- Fisher Paul G
- Fogel Brent L
- Forghani Irman
- Fresard Laure
- Gahl William A
- Glass Ian
- Gochuico Bernadette
- Godfrey Rena A
- Golden-Grant Katie
- Goldman Alica M
- Goldrich Madison P
- Goldstein David B
- Gonfiantini Michaela Veronika
- Good Jean-Marc
- Grajewski Alana
- Granadillo Jorge L
- Groden Catherine A
- Gutierrez Irma
- Hahn Sihoun
- Hamid Rizwan
- Hanchard Neil A
- Hassey Kelly
- Hayes Nichole
- High Frances
- Hing Anne
- Hisama Fuki M
- Holm Ingrid A
- Hom Jason
- Horike-Pyne Martha
- Huang Alden
- Huang Yong
- Huryn Laryssa
- Isasi Rosario
- Jamal Fariha
- Jamra Rami Abou
- Jarvik Gail P
- Jarvik Jeffrey
- Jayadev Suman
- Kalser Judith
- Karaviti Lefkothea
- Kelley Emily G
- Kennedy Jennifer
- Kiley Dana
- Kloeckner Chiara
- Kohane Isaac S
- Kohler Jennefer N
- Korrick Susan
- Kozuira Mary
- Krakow Deborah
- Krasnewich Donna M
- Kravets Elijah
- Krier Joel B
- Kurata Harley T
- Lachmeijer Guus
- Lalani Seema R
- Lam Byron
- Lam Christina
- Lamothe Shawn M
- LaMoure Grace L
- Lanpher Brendan C
- Lanza Ian R
- Latham Lea
- LeBlanc Kimberly
- Lee Brendan H
- Lee Hane
- Levitt Roy
- Lewis Richard A
- Lincoln Sharyn A
- Liu Pengfei
- Liu Xue Zhong
- Longo Nicola
- Loo Sandra K
- Loscalzo Joseph
- Maas Richard L
- Macchiaiolo Marina
- MacDowall John
- Macnamara Ellen F
- MacRae Calum A
- Maduro Valerie V
- Maghera Jasmine
- Majcherska Marta M
- Mak Bryan C
- Malicdan May Christine V
- Mamounas Laura A
- Manolio Teri A
- Mao Rong
- Maravilla Kenneth
- Markello Thomas C
- Marom Ronit
- Marth Gabor
- Martin Beth A
- Martin Martin G
- Martínez-Agosto Julian A
- Marwaha Shruti
- McCauley Jacob
- McConkie-Rosell Allyn
- McCormack Colleen E
- McCray Alexa T
- McGee Elisabeth
- Mefford Heather
- Merritt J. Lawrence
- Might Matthew
- Mirzaa Ghayda
- Morava Eva
- Moretti Paolo
- Moretti Paolo M
- Mosbrook-Davis Deborah
- Mulvihill John J
- Murdock David R
- Nagy Anna
- Nakano-Okuno Mariko
- Nath Avi
- Nelson Stanley F
- Newman John H
- Nicholas Sarah K
- Nicita Francesco
- Nickerson Deborah
- Nieves-Rodriguez Shirley
- Novacic Donna
- Odent Sylvie
- Oglesbee Devin
- Orengo James P
- Ortiz-Gonzalez Xilma
- O’Heir Emily
- Pace Laura
- Pacio-Miguez Marta
- Pak Stephen
- Pallais J. Carl
- Palmer Christina G.S
- Palomares-Bralo María
- Papp Jeanette C
- Parker Neil H
- Pena Loren
- Perry Katherine Wesseling
- PhillipsIII John A
- Pitt Geoffrey S
- Platzer Konrad
- Pode-Shakked Ben
- Posey Jennifer E
- Potocki Lorraine
- Power Bradley
- Pusey Barbara N
- Quinlan Aaron
- Quinodoz Mathieu
- Raja Archana N
- Ranza Emmanuelle
- Rao Deepak A
- Raskind Wendy
- Renteria Genecee
- Reuter Chloe M
- Rives Lynette
- Robertson Amy K
- Rodan Lance H
- Rodan Lance H
- Rosenfeld Jill A
- Rosenfeld Jill A
- Rosenwasser Natalie
- Rossignol Francis
- Roulet-Perez Eliane
- Rush Eric
- Ruzhnikov Maura
- Sacco Ralph
- Sampson Jacinda B
- Samson Susan L
- Santani Avni
- Santos-Simarro Fernando
- Saporta Mario
- Schaechter Judy
- Schedl Timothy
- Schoch Kelly
- Scott C. Ron
- Scott Daryl A
- Shashi Vandana
- Shashi Vandana
- Shin Jimann
- Signer Rebecca H
- Silverman Edwin K
- Sinsheimer Janet S
- Sisco Kathy
- Skraban Cara
- Slaugh Rachel
- Smith Edward C
- Smith Kevin S
- Solem Emily
- Solnica-Krezel Lilianna
- Solomon Ben
- Spillmann Rebecca C
- Spillmann Rebecca C
- Stoler Joan M
- Sullivan Jennifer A
- Sullivan Kathleen
- Sun Angela
- Superti-Furga Andrea
- Sutton Shirley
- Sweetser David A
- Sybert Virginia
- Tabor Holly K
- Tan Queenie K.-G
- Tekin Mustafa
- Telischi Fred
- Thiffault Isabelle
- Thorson Willa
- Thurm Audrey
- Tifft Cynthia J
- Toro Camilo
- Tran Alyssa A
- Tucker Brianna M
- Undiagnosed Diseases Network
- Urv Tiina K
- Van Bogaert Patrick
- van Jaabrsveld Richard H
- Vanderver Adeline
- Velinder Matt
- Vincent Marie
- Viskochil Dave
- Vogel Tiphanie P
- Wahl Colleen E
- Walker Melissa
- Wallace Stephanie
- Walley Nicole M
- Walsh Chris A
- Wambach Jennifer
- Wan Jijun
- Wang Hong-Gang
- Wang Lee-kai
- Wangler Michael F
- Ward Patricia A
- Wegner Daniel
- Wener Mark
- Wenger Tara
- Westerfield Monte
- Wheeler Matthew T
- Whitlock Jordan
- Wolfe Lynne A
- Woods Jeremy D
- Yamamoto Shinya
- Yang John
- Yousef Muhammad
- Zacher Pia
- Zastrow Diane B
- Zein Wadih
- Zhao Chunli
- Zuchner Stephan
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/10/2021
- Field of study
International audiencePurpose:CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype.Methods:We describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who present with predominantly neurological manifestations.Results:Fourteen individuals have de novo, nontruncating variants and present variably with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy. Functional studies of a subgroup of missense variants via patch clamp experiments demonstrated differential effects on channel function in vitro, including loss of function (p.Leu1408Val), neutral effect (p.Leu614Arg), and gain of function (p.Leu657Phe, p.Leu614Pro). The remaining 11 individuals from eight families have truncating variants in CACNA1C. The majority of these individuals have expressive language deficits, and half have autism.Conclusion:We expand the phenotype associated with CACNA1C variants to include neurodevelopmental abnormalities and epilepsy, in the absence of classic features of Timothy syndrome or long QT syndrome
Radicalism, republicanism and revolutionism
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- Koyré
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- Kraditor
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- Kramnick
- Kraus
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- Kropotkin
- Kropotkin
- Kropotkin
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- Kubitz
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- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
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- Plekhanov
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- Pocock
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- Proudhon
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- Quint
- Quinton
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- Ranke
- Ranke
- Ranke
- Ranke
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- Rathbone
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- Readman
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- Reedy
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- Reeves
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- Reichert
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- Reiss
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- Reiß
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- Reybaud
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- Reynolds
- Reynolds
- Reynolds
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- Ricardo
- Ricardo
- Rich
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- Richards
- Richards
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- Richardson
- Richardson
- Richardson
- Richardson
- Richardson
- Richardson
- Richter
- Ridley
- Riedel
- Riedel
- Riehl
- Rigby
- Rihs
- Riley
- Riley
- Ritchie
- Ritchie
- Ritchie
- Ritchie
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- Ritter
- Ritter
- Rivers
- Rizvi
- Rizvi
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- Roberts
- Roberts
- Robertson
- Robinson
- Robson
- Robson
- Robson
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- Rodgers
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- Roe
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- Rogers
- Rogers
- Rogger
- Rogin
- Rogin
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- Rosanvallon
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- Roscher
- Roscher
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- Rosdolsky
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- Royer-Collard
- Royle
- Royle
- Royle
- Royle
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- Ruge
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- Ruskin
- Ruskin
- Ruskin
- Ruskin
- Ruskin
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- Russell
- Russell
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- Ryan
- Ryan
- Ryan
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- Saint-Simon
- Saint-Simon
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- Sainte-Beuve
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- Salvadori
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- Samuel
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- Say
- Saye
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- Schapiro
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- Schenk
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- Schiller
- Schiller
- Schiller
- Schimséwitsch
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- Schlegel
- Schlegel
- Schlegel
- Schlegel
- Schlegel
- Schlegel
- Schlegel
- Schleiermacher
- Schleiermacher
- Schleiermacher
- Schleiermacher
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- Schlesinger
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- Schmitt
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- Schraepler
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- Schulz
- Schulz
- Schulz
- Schulz
- Schulz
- Schumpeter
- Schumpeter
- Schönemann
- Schüle
- Schüller
- Scott
- Scott
- Scott
- Scruton
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- Secord
- Seebacher-Brandt
- Seeley
- Seeley
- Seeley
- Seigel
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- Semmel
- Semmel
- Semmel
- Sengupta
- Senior
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- Seton-Watson
- Seward
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- Shanley
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- Sheehan
- Sheehan
- Sheehan
- Sheehy-Skeffington
- Shelley
- Shelley
- Shelley
- Shelley
- Shelley
- Sherren
- Shine
- Shklar
- Shklar
- Shklar
- Showalter
- Sidgwick
- Sidgwick
- Sidgwick
- Sidgwick
- Sidgwick
- Siedentop
- Siedentop
- Siegel
- Siegfried
- Siemes
- Siep
- Sieyès
- Sigerman
- Silberner
- Silbey
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- Simon
- Simpson
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- Sinclair
- Sinclair
- Sinclair
- Sismondi
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- Sismondi
- Sked
- Skinner
- Skinner
- Skinner
- Skorupski
- Skorupski
- Skorupski
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- Smith
- Smith
- Smith
- Smith
- Smith
- Smith
- Smith
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- Snyder
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- Solovyov
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- Sombart
- Sombart
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- Sonn
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- Sorel
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- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
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- Spain
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- Spence
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- Spencer
- Spencer
- Spencer
- Spencer
- Spencer
- Sperber
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- Spitzer
- Spitzer
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- St John-Stevas
- Stack
- Stack
- Stadter
- Stafford
- Stafford
- Stahl
- Stahl
- Stahl
- Stanslowski
- Stanton
- Starobinski
- Starr
- Stauffer
- Staël
- Stears
- Stedman
- Stedman Jones
- Stedman Jones
- Stedman Jones
- Stedman Jones
- Stedman Jones
- Stedman Jones
- Stedman Jones
- Steenson
- Steevens
- Stein
- Stein
- Stein
- Stein
- Stepan
- Stepelevich
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stern
- Stern
- Stern
- Sternhell
- Stirner
- Stites
- Stocking
- Stocking
- Stocking
- Stoecker
- Stokes
- Stokes
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- Stopes
- Story
- Strachey
- Strasser
- Strauss
- Strauss
- Stremoukhoff
- Stresemann
- Strong
- Studenski
- Stöcker
- Sukehiro
- Sullivan
- Sumner
- Sumner
- Sumner
- Susman
- Sutton
- Sutton-Ramspeck
- Swanwick
- Sweet
- Switzer
- Taine
- Taine
- Taine
- Talmon
- Tanner
- Tarde
- Tarde
- Tarello
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Teichgraber
- Temple
- Ten
- Thaden
- Theiner
- Thieme
- Thierry
- Tholfsen
- Thomas
- Thomas
- Thomas
- Thomas
- Thomas
- Thomas
- Thomis
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thomson
- Thomson
- Thoreau
- Thorold Rogers
- Thrupp
- Tillinghast
- Tiryakian
- Tober
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Todd
- Todorova
- Toesca
- Toews
- Toews
- Tomba
- Tone
- Tort
- Tosh
- Totman
- Toynbee
- Trainor
- Traugott
- Trentmann
- Trung
- Tsunoda
- Tsuzuki
- Tsuzuki
- Tuck
- Tuck
- Tucker
- Tucker
- Tuckwell
- Tudor
- Tulloch
- Tunick
- Turner
- Tusi
- Twelve
- Twining
- Twomey
- Tönnies
- Tönnies
- Tönnies
- Ullmann
- Urbinati
- Urwick
- Utechin
- Vanden Bossche
- Varnhagen
- Varouxakis
- Veblen
- Veblen
- Venturi
- Vernadsky
- Vial
- Vicinus
- Vick
- Vidler
- Vidler
- Vierhaus
- Vile
- Villeneuve-Bargemont
- Villermé
- Villiers
- Vincent
- Vincent
- Vincent
- Vincent
- Vincent
- Vincent
- Vital
- Vital
- Vivekananda
- Vivian
- Vizetelly
- Vogeler
- Vollgraf
- Vollgraf
- Von
- Von Mehren
- Von Mohl
- Von Rosen
- Vucinich
- Wada
- Wagner
- Wagner
- Wagner
- Wakefield
- Walch
- Walch
- Walicki
- Walicki
- Walicki
- Walicki
- Walker
- Wallace
- Wallace
- Wallas
- Wallas
- Wallas
- Walras
- Walras
- Walras
- Walzer
- Walzer
- Walzer
- Walzer
- Wardlaw
- Warren
- Wartofsky
- Waszek
- Watson
- Watson
- Watts
- Wawn
- Wawn
- Webb
- Webb
- Webb
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Wedderburn
- Weeks
- Wehler
- Weil
- Weill
- Weill
- Weiming
- Weinstein
- Weinstein
- Weiss
- Weiss
- Weitling
- Weitling
- Welch
- Welch
- Welch
- Weld
- Wells
- Wells
- Wells
- Wells
- Wells
- Wells
- Welskopp
- Wempe
- Wendorff
- West
- Westerholt
- Whately
- Whatmore
- Wheen
- Whelan
- White
- Wieacker
- Wiebe
- Wilde
- Wilde
- Wilentz
- Wilentz
- Wilentz
- Wilentz
- Wilkinson
- Williams
- Williams
- Williams
- Williams
- Williamson
- Wills
- Wills
- Wills
- Wills
- Wilson
- Wilson
- Wilson
- Wiltse
- Wiltshire
- Winch
- Winch
- Winch
- Winckelmann
- Winckelmann
- Wingate
- Winkler
- Wisdom
- Wish
- Wisner
- Wittke
- Wittke
- Wokler
- Wolfe
- Wolin
- Wolin
- Wolin
- Wolin
- Wolin
- Wollstonecraft
- Wollstonecraft
- Wood
- Wood
- Wood
- Wood
- Woodcock
- Woodcock
- Woodcock
- Woodcock
- Woodward
- Woodward
- Woodworth
- Woolf
- Woolf
- Woolf
- Woolsey
- Wootton
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wormell
- Wright
- Wright
- Wright
- Yarmolinsky
- Yashinaga
- Yeol
- Young
- Young
- Young
- Yovel
- Zacek
- Zastoupil
- Zeldin
- Zeldin
- Zenker
- Zetkin
- Zimmermann
- Ziolkowski
- Zucker
- Zuckert
- Publication venue
- 'Cambridge University Press (CUP)'
- Publication date
- 01/01/2011
- Field of study
From Jeremy Bentham's radical philosophy to J. S. Mill's philosophic radicalism
- Author
- Aaron
- Abizadeh
- Abrams
- Abrams
- Acomb
- Acton
- Acton
- Acton
- Acton
- Adams
- Adams
- Adams
- Adams
- Adams
- Adams
- Adas
- Adelman
- Adorno
- Agulhon
- Al-Rashid
- Alcock
- Aldenhoff
- Allen
- Allen
- Amos
- Andelson
- Anderson
- Anderson
- Andrews
- Andrews
- Angell
- Angermann
- Angermann
- Annan
- Annan
- Ansart
- Anthony
- Antoine
- Appleby
- Appleby
- Arendt
- Arendt
- Argov
- Argyll
- Aris
- Armitage
- Armitage
- Arnaud
- Arnaud
- Arnaud
- Arnold
- Arnold
- Arnold
- Arnold
- Ashley
- Ashrama
- Ashton
- Ashton
- August
- Aureau
- Aurobindo
- Austen
- Austen
- Austin
- Austin
- Austin
- Avineri
- Avrich
- Avrich
- Avrich
- Badawi
- Badrawi
- Bagchi
- Bagehot
- Bagehot
- Bagehot
- Bagehot
- Bagehot
- Bagge
- Bailie
- Bailyn
- Bailyn
- Baker
- Baker
- Bakshi
- Bakunin
- Bakunin
- Bakunin
- Bakunin
- Bakunin
- Bakunin
- Bakunin
- Bakunin
- Balfour
- Ball
- Ballanche
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- Maine
- Maine
- Maistre
- Maistre
- Maistre
- Maistre
- Maistre
- Maitland
- Maitron
- Maitron
- Maitron
- Majumdar
- Majumedar
- Malangré
- Malatesta
- Malebranche
- Mali
- Mallet
- Mallet du Pan
- Mallock
- Mallock
- Malone
- Malthus
- Malthus
- Malthus
- Mancini
- Mandler
- Mandler
- Manin
- Mannheim
- Manninen
- Mansfield
- Manuel
- Manuel
- Manuel
- Manuel
- Marcuse
- Mariel
- Marinetti
- Marino
- Marino
- Marr
- Marshall
- Marshall
- Marshall
- Marshall
- Marshall
- Martin
- Martin
- Martin
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Marx
- Masaryk
- Masterman
- Masterman
- Masterman
- Masterman
- Masterman
- Masur
- Mathers
- Mathurin
- Mathy
- Matthews
- Matthews
- Mauduit
- Maurer
- Maximoff
- May
- Mayer
- Mayer
- Mayreder
- Maza
- Mazower
- Mazower
- Mazzini
- Mazzini
- Mazzini
- McAdoo
- McAlla
- McBriar
- McBriar
- McBride
- McCalman
- McCarthy
- McCracken
- McDonald
- McDonald
- McFadden
- McFadden
- McFeely
- McKenna
- McKenna
- McKibbin
- McLaughlin
- Mclloyd
- McMahon
- McPherson
- McPherson
- McWilliams
- Meek
- Meinecke
- Meinecke
- Melder
- Mellon
- Menand
- Menand
- Mendel
- Mendilow
- Menger
- Menger
- Menger
- Menger
- Menke
- Merchior
- Meredith
- Merriam
- Merriam
- Merriam
- Merton
- Metcalfe
- Meyer
- Meyer
- Meyers
- Michael
- Michelet
- Michelet
- Michels
- Mielke
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Mill
- Miller
- Miller
- Miller
- Miller
- Miller
- Miller
- Miller
- Miller
- Millhauser
- Mills
- Milner
- Miquel
- Mises
- Mittermaier
- Mitzakis
- Mitzman
- Moggach
- Moggach
- Moggach
- Mohl
- Molnar
- Mommsen
- Mommsen
- Mommsen
- Mommsen
- Mommsen
- Mommsen
- Money
- Monro
- Montesquieu
- Montesquieu
- Moody
- Moore
- Moore
- Moore
- Moore
- Moore
- Moran
- Moravia
- Moravia
- Moreau
- Morel
- Morgan
- Morison
- Morley
- Morley
- Morley
- Morley
- Morone
- Morris
- Morris
- Morris
- Morris
- Morris
- Morrow
- Morrow
- Morrow
- Morrow
- Mortensen
- Moses
- Moses
- Moss
- Mosse
- Mosse
- Moulinié
- Mueller Lehning
- Muirhead
- Muller
- Mummery
- Muthu
- Mélonio
- Mühlenbruch
- Müller
- Müller
- Müller
- Müller
- Müller
- Müller
- Müller
- Müller
- Na'aman
- Namier
- Nash
- Naumann
- Naumann
- Neale
- Nehamas
- Newbury
- Newman
- Newman
- Newman
- Newsinger
- Nicholson
- Nicolet
- Nicoll
- Niebuhr
- Niebuhr
- Nietzsche
- Nietzsche
- Nietzsche
- Nietzsche
- Nietzsche
- Nietzsche
- Nietzsche
- Nietzsche
- Nietzsche
- Nietzsche
- Nietzsche
- Nimni
- Nisbet
- Nitti
- Nitti
- Niven
- Nomad
- Nonini
- Nord
- Nordhoff
- Norman
- Noyes
- Noyes
- Nugent
- Nye
- O'Brien
- O'Brien
- O'Brien
- O'Brion
- O'Connell
- O'Connell
- O'Connor
- O'Donoghue
- O'Gorman
- O'Hegarty
- O'Hegarty
- O'Meara
- Oakeshott
- Obermann
- Offen
- Offen
- Ogden
- Okey
- Oldfield
- Oldroyd
- Oliver
- Oncken
- Onuf
- Onuf
- Orisini
- Orsini
- Osofsky
- Owen
- Owen
- Owen
- Owen
- Owen
- Ozouf
- Packe
- Packe
- Paetzold
- Pagden
- Pagden
- Paine
- Paine
- Paine
- Paine
- Pal
- Paley
- Paley
- Palgrave
- Palmegiano
- Paludan
- Pancaldi
- Pankhurst
- Pankhurst
- Pareyson
- Parkin
- Parrinder
- Parry
- Parry
- Parvi
- Pater
- Paternò
- Patsouras
- Patten
- Paul
- Paul
- Paulin
- Pawlikova-Vilhanova
- Peacock
- Pearson
- Pearson
- Pearson
- Pearson
- Pearson
- Pease
- Peel
- Peel
- Pelczynski
- Pelczynski
- Pelz
- Penty
- Pereira
- Perinbam
- Perras
- Peterson
- Peterson
- Peterson
- Petitjean
- Petrovich
- Pettit
- Phillips
- Philp
- Pick
- Picon
- Pierson
- Pierson
- Pigott
- Pilbeam
- Pinkard
- Pinker
- Pipes
- Pippin
- Pippin
- Pitts
- Plamenatz
- Plamenatz
- Plant
- Playfair
- Plekhanov
- Plekhanov
- Plessis
- Pluhar
- Pocock
- Pocock
- Pohl
- Poincaré
- Poliakov
- Polkinghorn
- Pollack
- Pollard
- Pollock
- Pollock
- Pomper
- Poole
- Pope
- Popitz
- Popper
- Portalis
- Portalis
- Portalis
- Porter
- Porter
- Porter
- Posada-Carbo
- Postgate
- Pott
- Pozzetta
- Prickett
- Pringle-Pattison
- Procacci
- Proudhon
- Proudhon
- Proudhon
- Proudhon
- Proudhon
- Proudhon
- Proudhon
- Proudhon
- Proudhon
- Proudhon
- Proudhon
- Proudhon
- Proudhon
- Pryme
- Préposiet
- Puchta
- Pugh
- Puntambekar
- Purcell
- Pyle
- Pyziur
- Quagliariello
- Quail
- Quataert
- Quentin-Bauchart
- Quine
- Quinlan
- Quinlivan
- Quint
- Quinton
- Qvortrup
- Rae
- Raeburn
- Ranade
- Randolph
- Ranke
- Ranke
- Ranke
- Ranke
- Ranke
- Rapoport
- Rathbone
- Rathbone
- Raulet
- Raven
- Ravindranathan
- Rawls
- Raynaud
- Read
- Readman
- Reagin
- Reardon
- Redeker
- Reed
- Reedy
- Reedy
- Rees
- Reeves
- Reeves
- Reichert
- Reichert
- Reiff
- Reill
- Reis
- Reiss
- Reizov
- Reiß
- Retallack
- Reybaud
- Reybaud
- Reynaud-Paligot
- Reynolds
- Reynolds
- Reynolds
- Reynolds
- Riall
- Riasanovsky
- Riasanovsky
- Ricardo
- Ricardo
- Ricardo
- Ricardo
- Rich
- Richards
- Richards
- Richards
- Richardson
- Richardson
- Richardson
- Richardson
- Richardson
- Richardson
- Richardson
- Richter
- Ridley
- Riedel
- Riedel
- Riehl
- Rigby
- Rihs
- Riley
- Riley
- Ritchie
- Ritchie
- Ritchie
- Ritchie
- Ritter
- Ritter
- Ritter
- Rivers
- Rizvi
- Rizvi
- Robbins
- Roberts
- Roberts
- Robertson
- Robinson
- Robson
- Robson
- Robson
- Rocker
- Rodbertus-Jagetzow
- Rodgers
- Rodgers
- Rodriguez
- Roe
- Roe
- Roebuck
- Roesler
- Rogers
- Rogers
- Rogers
- Rogger
- Rogin
- Rogin
- Rohs
- Romani
- Roosevelt
- Roper
- Rosanvallon
- Rosanvallon
- Roscher
- Roscher
- Roscher
- Rosdolsky
- Rosdolsky
- Rose
- Rose
- Rosen
- Rosen
- Rosen
- Rosen
- Rosenkranz
- Rosenzweig
- Ross
- Rossi
- Rossiter
- Roth
- Roth
- Rothschild
- Rotteck
- Rousseau
- Rowlands
- Rowntree
- Royer
- Royer-Collard
- Royle
- Royle
- Royle
- Royle
- Rubinstein
- Rudolph
- Ruge
- Ruge
- Ruskin
- Ruskin
- Ruskin
- Ruskin
- Ruskin
- Ruskin
- Russell
- Russell
- Russell
- Rutherford
- Ryan
- Ryan
- Ryan
- Ryan
- Ryusaku
- Rémusat
- Rémusat
- Sacks
- Saint-Simon
- Saint-Simon
- Saint-Simon
- Saint-Simon
- Saint-Simon
- Saint-Simon
- Sainte-Beuve
- Sainte-Beuve
- Salat
- Salvadori
- Samuel
- Samuel
- Samuels
- Sand
- Sandel
- Sanderson
- Sapiro
- Saraswati
- Sargant
- Sarrazin
- Savigny
- Say
- Say
- Saye
- Scanlan
- Schaack
- Schaeffle
- Schamber
- Schapiro
- Schapiro
- Schattschneider
- Schenk
- Scheuner
- Schiller
- Schiller
- Schiller
- Schiller
- Schimséwitsch
- Schlegel
- Schlegel
- Schlegel
- Schlegel
- Schlegel
- Schlegel
- Schlegel
- Schlegel
- Schleiermacher
- Schleiermacher
- Schleiermacher
- Schleiermacher
- Schleiffer
- Schlesinger
- Schlesinger
- Schmitt
- Schmitt
- Schneewind
- Scholtz
- Schorske
- Schraepler
- Schramm
- Schroeder
- Schulz
- Schulz
- Schulz
- Schulz
- Schulz
- Schumpeter
- Schumpeter
- Schönemann
- Schüle
- Schüller
- Scott
- Scott
- Scott
- Scruton
- Searle
- Secord
- Seebacher-Brandt
- Seeley
- Seeley
- Seeley
- Seigel
- Sellers
- Semmel
- Semmel
- Semmel
- Sengupta
- Senior
- Seth
- Seton-Watson
- Seton-Watson
- Seward
- Shanahan
- Shanley
- Shanley
- Sharpe
- Shaw
- Sheehan
- Sheehan
- Sheehan
- Sheehan
- Sheehy-Skeffington
- Shelley
- Shelley
- Shelley
- Shelley
- Shelley
- Sherren
- Shine
- Shklar
- Shklar
- Shklar
- Showalter
- Sidgwick
- Sidgwick
- Sidgwick
- Sidgwick
- Sidgwick
- Siedentop
- Siedentop
- Siegel
- Siegfried
- Siemes
- Siep
- Sieyès
- Sigerman
- Silberner
- Silbey
- Simmel
- Simms
- Simon
- Simon
- Simpson
- Sinclair
- Sinclair
- Sinclair
- Sinclair
- Sismondi
- Sismondi
- Sismondi
- Sked
- Skinner
- Skinner
- Skinner
- Skorupski
- Skorupski
- Skorupski
- Smith
- Smith
- Smith
- Smith
- Smith
- Smith
- Smith
- Smith
- Smith-Rosenberg
- Smithson
- Snowden
- Snyder
- Snyder
- Soffer
- Solomon
- Soloviev
- Solovyov
- Solovyov
- Soltau
- Sombart
- Sombart
- Sombart
- Sonn
- Sonn
- Soong
- Sorel
- Sorel
- Sotheran
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Southey
- Sowell
- Spain
- Spater
- Spence
- Spence
- Spencer
- Spencer
- Spencer
- Spencer
- Spencer
- Spencer
- Sperber
- Spinoza
- Spitzer
- Spitzer
- Srivastava
- St John-Stevas
- Stack
- Stack
- Stadter
- Stafford
- Stafford
- Stahl
- Stahl
- Stahl
- Stanslowski
- Stanton
- Starobinski
- Starr
- Stauffer
- Staël
- Stears
- Stedman
- Stedman Jones
- Stedman Jones
- Stedman Jones
- Stedman Jones
- Stedman Jones
- Stedman Jones
- Stedman Jones
- Steenson
- Steevens
- Stein
- Stein
- Stein
- Stein
- Stepan
- Stepelevich
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stephen
- Stern
- Stern
- Stern
- Sternhell
- Stirner
- Stites
- Stocking
- Stocking
- Stocking
- Stoecker
- Stokes
- Stokes
- Stopes
- Stopes
- Story
- Strachey
- Strasser
- Strauss
- Strauss
- Stremoukhoff
- Stresemann
- Strong
- Studenski
- Stöcker
- Sukehiro
- Sullivan
- Sumner
- Sumner
- Sumner
- Susman
- Sutton
- Sutton-Ramspeck
- Swanwick
- Sweet
- Switzer
- Taine
- Taine
- Taine
- Talmon
- Tanner
- Tarde
- Tarde
- Tarello
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Taylor
- Teichgraber
- Temple
- Ten
- Thaden
- Theiner
- Thieme
- Thierry
- Tholfsen
- Thomas
- Thomas
- Thomas
- Thomas
- Thomas
- Thomas
- Thomis
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thompson
- Thomson
- Thomson
- Thoreau
- Thorold Rogers
- Thrupp
- Tillinghast
- Tiryakian
- Tober
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Tocqueville
- Todd
- Todorova
- Toesca
- Toews
- Toews
- Tomba
- Tone
- Tort
- Tosh
- Totman
- Toynbee
- Trainor
- Traugott
- Trentmann
- Trung
- Tsunoda
- Tsuzuki
- Tsuzuki
- Tuck
- Tuck
- Tucker
- Tucker
- Tuckwell
- Tudor
- Tulloch
- Tunick
- Turner
- Tusi
- Twelve
- Twining
- Twomey
- Tönnies
- Tönnies
- Tönnies
- Ullmann
- Urbinati
- Urwick
- Utechin
- Vanden Bossche
- Varnhagen
- Varouxakis
- Veblen
- Veblen
- Venturi
- Vernadsky
- Vial
- Vicinus
- Vick
- Vidler
- Vidler
- Vierhaus
- Vile
- Villeneuve-Bargemont
- Villermé
- Villiers
- Vincent
- Vincent
- Vincent
- Vincent
- Vincent
- Vincent
- Vital
- Vital
- Vivekananda
- Vivian
- Vizetelly
- Vogeler
- Vollgraf
- Vollgraf
- Von
- Von Mehren
- Von Mohl
- Von Rosen
- Vucinich
- Wada
- Wagner
- Wagner
- Wagner
- Wakefield
- Walch
- Walch
- Walicki
- Walicki
- Walicki
- Walicki
- Walker
- Wallace
- Wallace
- Wallas
- Wallas
- Wallas
- Walras
- Walras
- Walras
- Walzer
- Walzer
- Walzer
- Walzer
- Wardlaw
- Warren
- Wartofsky
- Waszek
- Watson
- Watson
- Watts
- Wawn
- Wawn
- Webb
- Webb
- Webb
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Weber
- Wedderburn
- Weeks
- Wehler
- Weil
- Weill
- Weill
- Weiming
- Weinstein
- Weinstein
- Weiss
- Weiss
- Weitling
- Weitling
- Welch
- Welch
- Welch
- Weld
- Wells
- Wells
- Wells
- Wells
- Wells
- Wells
- Welskopp
- Wempe
- Wendorff
- West
- Westerholt
- Whately
- Whatmore
- Wheen
- Whelan
- White
- Wieacker
- Wiebe
- Wilde
- Wilde
- Wilentz
- Wilentz
- Wilentz
- Wilentz
- Wilkinson
- Williams
- Williams
- Williams
- Williams
- Williamson
- Wills
- Wills
- Wills
- Wills
- Wilson
- Wilson
- Wilson
- Wiltse
- Wiltshire
- Winch
- Winch
- Winch
- Winckelmann
- Winckelmann
- Wingate
- Winkler
- Wisdom
- Wish
- Wisner
- Wittke
- Wittke
- Wokler
- Wolfe
- Wolin
- Wolin
- Wolin
- Wolin
- Wolin
- Wollstonecraft
- Wollstonecraft
- Wood
- Wood
- Wood
- Wood
- Woodcock
- Woodcock
- Woodcock
- Woodcock
- Woodward
- Woodward
- Woodworth
- Woolf
- Woolf
- Woolf
- Woolsey
- Wootton
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wordsworth
- Wormell
- Wright
- Wright
- Wright
- Yarmolinsky
- Yashinaga
- Yeol
- Young
- Young
- Young
- Yovel
- Zacek
- Zastoupil
- Zeldin
- Zeldin
- Zenker
- Zetkin
- Zimmermann
- Ziolkowski
- Zucker
- Zuckert
- Publication venue
- 'Cambridge University Press (CUP)'
- Publication date
- 01/01/2011
- Field of study