10 research outputs found
A trans-ancestral meta-analysis of Genome-wide Association Studies reveals loci associated with childhood obesity
- Author
- Ahluwalia TS
- Alyass A
- Atalay M
- Baier LJ
- Berkowitz RI
- Bisgaard H
- Blanco E
- Boh ET-H
- Bonnefond A
- Bonnelykke K
- Bradfield JP
- Brown CD
- Bustamante M
- Butte NF
- Canouil M
- Chen Z
- Chesi A
- Cole SA
- Comuzzie AG
- Cousminer DL
- Cruz M
- Curtin JA
- Custovic A
- Early Growth Genetics Consortium
- Eriksson J
- Felix JF
- Fernandez-Rhodes L
- Frithioff-Bøjsøe C
- Froguel P
- Gahagan S
- Gauderman WJ
- Gilliland FD
- Grant SFA
- Grarup N
- Hakonarson H
- Hansen T
- Hanson RL
- Have CT
- Hebebrand J
- Heinrich J
- Helgeland Ø
- Highland HM
- Hinney A
- Hollensted M
- Holm J-C
- Horikoshi M
- Hyppönen E
- Jaddoe VWV
- Johansson S
- Joro R
- Justice AE
- Järvelin M-R
- Karhunen V
- Kobes S
- Kähönen M
- Lakka TA
- Lehtimäki T
- Leinonen JT
- Lindi V
- Lowry E
- Lyytikäinen L-P
- McCarthy MI
- McCormack SE
- Meyre D
- Monnereau C
- Njølstad PR
- North KE
- Parra EJ
- Pedersen O
- Pennell CE
- Peralta-Romero J
- Peters T
- Pitkänen N
- Power C
- Raitakari OT
- Rivadeneira F
- Saw S-M
- Sebert S
- Simpson A
- Standl M
- Sørensen TIA
- Teo KK
- Teo Y-Y
- Thiering E
- Timpson NJ
- Uitterlinden AG
- Valladares-Salgado A
- Van Schaik BDC
- Vaudel M
- Vilor-Tejedor N
- Vioque J
- Vogelezang S
- Voruganti VS
- Vrijheid M
- Vrijkotte TGM
- Wang CA
- Wang Y
- Widén E
- Zafarmand MH
- Zemel BS
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2019
- Field of study
Although hundreds of GWAS-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity, and with only a few studies conducted in non-European populations to date. Searching for additional genetic variants associated with childhood obesity, we performed a trans-ancestral meta-analysis of thirty studies consisting of up to 13,005 cases (≥95th percentile of BMI achieved 2-18 years old) and 15,599 controls (consistently <50th percentile of BMI) of European, African, North/South American and East Asian ancestry. Suggestive loci were taken forward for replication in a sample of 1,888 cases and 4,689 controls from seven cohorts of European and North/South American ancestry. In addition to observing eighteen previously implicated BMI or obesity loci, for both early and late onset, we uncovered one completely novel locus in this trans-ancestral analysis (nearest gene: METTL15). The variant was nominally associated in only the European subgroup analysis but had a consistent direction of effect in other ethnicities. We then utilized trans-ancestral Bayesian analysis to narrow down the location of the probable causal variant at each genome-wide significant signal. Of all the fine-mapped loci, we were able to narrow down the causative variant at four known loci to fewer than ten SNPs (FAIM2, GNPDA2, MC4R and SEC16B loci). In conclusion, an ethnically diverse setting has enabled us to both identify an additional pediatric obesity locus and further fine-map existing loci
Das Glykogen in menschlichen Embryonen von 15, 27 und 40 mm
- Author
- August Cramer
- Bernhard Schöndorff
- Carl Sundberg
- Claude Bernard
- Claude Bernard
- D. Barfurth
- E. Pflüger
- E. Pflüger
- Felix Marchand
- G. Fichera
- Georg Salomon
- Hilding Bergstrand
- Hilding Bergstrand
- Julius Kollmann
- K. Gierke
- L. Butte
- L. F. Driessen
- O. Lubarsch
- Pietro Giuzzetto
- S. H. Gage
- V. Paschutin
- W. Klestadt
- W. Neubert
- W. Wittich von
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Macronutrient composition and gestational weight gain: a systematic review
- Author
- Adair
- Ali
- Althuizen
- Ancri
- Anderson
- André Peralta Santos
- Audry H Garcia
- Begum
- Bellati
- Bergmann
- Black
- Blumfield
- Bompiani
- Butte
- Butte
- Carreno
- Castro Pda
- Changamire
- Chasan-Taber
- Clapp Iii
- Costa
- Das
- DeLany
- DeVader
- Drehmer
- Ebrahimi
- Eduardo Moreira
- Eric AP Steegers
- Ester AL de Jonge
- Febbraio
- Gaillard
- Garrow
- Geriolda Topi
- Giordano
- Gresham
- Han
- Health Council of the Netherlands
- Heery
- Herouvi
- Ho
- Hooper
- Hsu
- Hu
- Hussain
- Institute of Medicine
- Janine F Felix
- Jaruratanasirikul
- Jessica C Kiefte-de Jong
- Kardjati
- Kaseb
- Lagiou
- Langford
- Langhoff-Roos
- Latner
- Lechtig
- Liberati
- Livingstone
- Lozano
- Ludwig
- Maple-Brown
- Martins
- Maslova
- Mateus J Luvizotto
- Mikkelsen
- Montpetit
- Moore
- Myrte J Tielemans
- Nahar
- National Research Council
- Nehring
- Nehring
- Nellija Luksa
- Olafsdottir
- Ortolano
- Oscar H Franco
- Ostachowska-Gasior
- Papoz
- Pereira-Lancha
- Perichart-Perera
- Picone
- Piers
- Pitkin
- Popa
- Quinlivan
- Qureshi
- Raben
- Rae
- Rasmussen
- Renault
- Rodrigues
- Roos
- Saowakontha
- Scholl
- Shin
- Siega-Riz
- Sloan
- Smith
- Streuling
- Stroup
- Stuebe
- Talai Rad
- Thangaratinam
- Thirsa L Visser
- Tontisirin
- Trudy Voortman
- Uusitalo
- Viegas
- Viegas
- von Elm
- Wagner
- Walker
- Walker
- Wichor M Bramer
- Willett
- Wong
- Zulfiqar
- Publication venue
- 'American Society for Nutrition'
- Publication date
- 01/01/2016
- Field of study
Public Health and primary carePrevention, Population and Disease management (PrePoD
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity
- Author
- Ahluwalia Tarunveer S.
- Alyass Akram
- Atalay Mustafa
- Baier Leslie J.
- Berkowitz Robert I.
- Bisgaard Hans
- Blanco Estela
- Boh Eileen Tai-Hui
- Bonnefond Amélie
- Bradfield Jonathan P.
- Brown Christopher D.
- Bustamante Mariona
- Butte Nancy F.
- Bønnelykke Klaus
- Canouil Mickaël
- Chen Zhanghua
- Chesi Alessandra
- Cole Shelley A.
- Comuzzie Anthony G.
- Cousminer Diana L.
- Cruz Miguel
- Curtin John A.
- Custovic Adnan
- Eriksson Johan
- Felix Janine F.
- Fernandez-Rhodes Lindsay
- Frithioff-Bøjsøe Christine
- Froguel Philippe
- Gahagan Sheila
- Gauderman William J.
- Gilliland Frank D.
- Grarup Niels
- Hakonarson Hakon
- Hansen Torben
- Hanson Robert L.
- Have Christian T.
- Hebebrand Johannes
- Heinrich Joachim
- Helgeland Øyvind
- Highland Heather M.
- Hinney Anke
- Hollensted Mette
- Holm Jens-Christian
- Horikoshi Momoko
- Hyppönen Elina
- Jaddoe Vincent W.V.
- Johansson Stefan
- Joro Raimo
- Justice Anne E.
- Järvelin Marjo-Riitta
- Kahonen Mika
- Karhunen Ville
- Kobes Sayuko
- Lakka Timo A.
- Lehtimäki Terho
- Leinonen Jaakko T.
- Lindi Virpi
- Lowry Estelle
- Lyytikäinen Leo-Pekka
- McCarthy Mark I.
- McCormack Shana E.
- Meyre David
- Monnereau Claire
- Njølstad Pål Rasmus
- North Kari E.
- Parra Esteban J.
- Pedersen Oluf
- Pennell Craig E.
- Peralta-Romero Jesus
- Peters Triinu
- Pitkänen Niina
- Power Christine
- Raitakari Olli T.
- Rivadeneira Fernando
- Saw Seang-Mei
- Sebert Sylvain
- Simpson Angela
- Standl Marie
- Sørensen Thorkild I.A.
- Teo Koon K.
- Teo Yik-Ying
- Thiering Elisabeth
- Timpson Nicholas J.
- Uitterlinden André G.
- Valladares-Salgado Adan
- van Schaik Barbera D.C.
- Vaudel Marc
- Vilor-Tejedor Natalia
- Vioque Jesus
- Vogelezang Suzanne
- Voruganti V. Saroja
- Vrijheid Martine
- Vrijkotte Tanja G.M.
- Wang Carol A.
- Wang Yujie
- Widén Elisabeth
- Zafarmand Mohammad H.
- Zemel Babette S.
- Publication venue
- Publication date
- 01/01/2019
- Field of study
A Trans-ancestral Meta-Analysis of Genome-Wide Association Studies Reveals Loci Associated with Childhood Obesity
- Author
- Ahluwalia Tarunveer S
- Alyass Akram
- Atalay Mustafa
- Baier Leslie J
- Berkowitz Robert I
- Bisgaard Hans
- Blanco Estela
- Boh Eileen Tai-hui
- Bonnefond Amélie
- Bonnelykke Klaus
- Bradfield Jonathan P
- Brown Christopher D
- Bustamante Mariona
- Butte Nancy F
- Canouil Mickaël
- Chen Zhanghua
- Chesi Alessandra
- Cole Shelley A
- Comuzzie Anthony G
- Cousminer Diana L
- Cruz Miguel
- Curtin John A
- Custovic Adnan
- Eriksson Johan
- Felix Janine F
- Fernandez-rhodes Lindsay
- Frithioff-bøjsøe Christine
- Froguel Philippe
- Gahagan Sheila
- Gauderman William J
- Gilliland Frank D
- Grant Struan F A
- Grarup Niels
- Hakonarson Hakon
- Hansen Torben
- Hanson Robert L
- Have Christian T
- Hebebrand Johannes
- Heinrich Joachim
- Helgeland Øyvind
- Highland Heather M
- Hinney Anke
- Hollensted Mette
- Holm Jens-christian
- Horikoshi Momoko
- Hyppönen Elina
- Jaddoe Vincent W V
- Johansson Stefan
- Joro Raimo
- Justice Anne E
- Järvelin Marjo-riitta
- Karhunen Ville
- Kobes Sayuko
- Kähönen Mika
- Lakka Timo A
- Lehtimäki Terho
- Leinonen Jaakko T
- Lindi Virpi
- Lowry Estelle
- Lyytikäinen Leo-pekka
- Mccarthy Mark I
- Mccormack Shana E
- Meyre David
- Monnereau Claire
- Njølstad Pål R
- North Kari E
- Parra Esteban J
- Pedersen Oluf
- Pennell Craig E
- Peralta-romero Jesus
- Peters Triinu
- Pitkänen Niina
- Power Christine
- Raitakari Olli T
- Rivadeneira Fernando
- Saw Seang-mei
- Sebert Sylvain
- Simpson Angela
- Standl Marie
- Sørensen Thorkild I A
- Teo Koon K
- Teo Yik-ying
- Thiering Elisabeth
- Timpson Nicholas J
- Uitterlinden André G
- Valladares-salgado Adan
- Van Schaik Barbera D C
- Vaudel Marc
- Vilor-tejedor Natalia
- Vioque Jesus
- Vogelezang Suzanne
- Voruganti V Saroja
- Vrijheid Martine
- Vrijkotte Tanja G M
- Wang Carol A
- Wang Yujie
- Widén Elisabeth
- Zafarmand Mohammad H
- Zemel Babette S
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2019
- Field of study
Under embargo until: 2020-06-08Although hundreds of genome-wide association studies-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity and with only a few studies conducted in non-European populations to date. Searching for additional genetic variants associated with childhood obesity, we performed a trans-ancestral meta-analysis of 30 studies consisting of up to 13 005 cases (≥95th percentile of body mass index (BMI) achieved 2–18 years old) and 15 599 controls (consistently <50th percentile of BMI) of European, African, North/South American and East Asian ancestry. Suggestive loci were taken forward for replication in a sample of 1888 cases and 4689 controls from seven cohorts of European and North/South American ancestry. In addition to observing 18 previously implicated BMI or obesity loci, for both early and late onset, we uncovered one completely novel locus in this trans-ancestral analysis (nearest gene, METTL15). The variant was nominally associated with only the European subgroup analysis but had a consistent direction of effect in other ethnicities. We then utilized trans-ancestral Bayesian analysis to narrow down the location of the probable causal variant at each genome-wide significant signal. Of all the fine-mapped loci, we were able to narrow down the causative variant at four known loci to fewer than 10 single nucleotide polymorphisms (SNPs) (FAIM2, GNPDA2, MC4R and SEC16B loci). In conclusion, an ethnically diverse setting has enabled us to both identify an additional pediatric obesity locus and further fine-map existing loci.acceptedVersio
The Antidiabetic and Antioxidant Effects of Carotenoids: A Review
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- Agte V Tarwadi K.
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- Nagasawa H Mitamura T, Sakamoto S, Yamamoto K.
- Naito Y Uchiyama K, Aoi W, Hasegawa G, Nakamura N, Yoshida N, et al.
- Nishikawa T Edelstein D, Du XL, Yamagishi S-i, Matsumura T, Kaneda Y, et al.
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- Publication venue
- 'Informatics Publishing Limited'
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Studies on Hibbs' Spine Fusion in the Treatment of Scoliosis
- Author
- Abbott E. G.
- Allison Nathaniel
- Baeyer von H.
- Baeyer von H.
- Behrend H. W.
- Behrend H. W.
- Bergmann Ernst
- Beust von A.
- Bickel W. H.
- Bisgard J. Dewey
- Bisgard J. Dewey
- Bisgard J. Dewey
- Bjarni Jónsson
- Blumensaat Carl
- Bouvier
- Brogden W. E.
- Buchman Joseph
- Bush Leonard F.
- Butte Felix L.
- Böhm Max
- Camera Ugo
- Carey Eben J.
- Casse
- Chapman Earle M.
- Childs G. B.
- Chlumský V.
- Cleveland Mather
- Cohen Lawrence J.
- Colonna Paul C.
- Compere
- Diamant-Berger L.
- Dungal Niels
- Dyes
- Elmslie R. C.
- Engelmann Guido
- Epstein I.
- Epstein I.
- Faber Alexander
- Fenkner Walter
- Fenkner Walter
- Fenkner Walter
- Ferguson Albert B.
- Finck Julius V.
- Flagstad A. E.
- Forbes A. Mackensie
- Forbes A. Mackensie
- Frejka Bedrich
- Frey E. K.
- Fromme Albert
- Frosch L.
- Fèvre Marcel
- Fèvre Marcel.
- Galloway
- Gaudier H.
- Gaudier H.
- Giertsen Per E.
- Girard P. M.
- Goecke
- Golebiewski
- Gonzales Aguilar
- Gruca Adam
- Gruca Adam
- Gurd
- Guérin Jules
- Guérin Jules
- Guérin Jules
- Györy von G.
- Haas S. L.
- Haas S. L.
- Haas S. L.
- Hanausek J.
- Heine
- Henry Myron O.
- Herz Max
- Heyman Clarence H.
- Hibbs Russel A.
- Hibbs Russel A.
- Hibbs Russel A.
- Hibbs Russel A.
- Hoessly H.
- Hoffa Albert
- Hoke Michael
- Jaboulay
- Jaboulay
- Jaroschy Wilhelm
- Jaroschy Wilhelm
- Johow Arnulfo
- Kasakevič I.
- Kerwin A. J.
- Ketch Samuel
- Klein August
- Kleinberg Samuel
- Kleinberg Samuel
- Kleinberg Samuel
- Kleinberg Samuel
- Kozlovski A.
- Krukenberg H.
- Krukenberg H.
- Krukenberg H.
- Lackum von Herman Roy
- Lam Conrad R.
- Lange Fritz
- Lange Fritz
- Lange Max
- Laycock T.
- Leclerc Georges (rapport par Tuffier)
- Lehmann-Facius Hermann
- Lehrnbecher A.
- Lewin Philip
- Loeffler Friedrich
- Lovett Robert
- Lowman C. L.
- Mac Lennan Alex
- Malgaigne
- Matchett Foster
- Mathieu Poul
- Mauclaire
- McKenzie Kenneth G.
- Meinert
- Meyer G. Hermann
- Moffat Bareley W.
- Peckham Frank E.
- Plagemann Hermann
- Plagemann Hermann
- Plagemann Hermann
- Radulescu Al. D.
- Ridlon John
- Risser Joseph C.
- Risser Joseph C.
- Rocher H. L.
- Royle Norman D.
- Ruhlin Carl W.
- Saal von Frederick
- Sauerbruch F.
- Schanz A.
- Schede Fr.
- Schepelmann Emil
- Schultz O. E.
- Selig Seth
- Smith Alan DeForest
- Smith Alan DeForest.
- Smith Alan Forest
- Tavernier L.
- Tavernier L.
- Thomas Henry Bascom
- Thoroddscn Katrín
- Tietze
- Vogel K.
- von Volkmann
- Wenger Leslie H.
- Wenger Leslie H.
- Whitman Armitage
- Whitman Armitage
- Whitman Armitage
- Whitman Armitage
- Whitman Royal
- Wittek
- Wreden R.
- Wreden R.
- Wullstein L.
- Young Charles S.
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity
- Author
- Ahluwalia Tarunveer S.
- Alyass Akram
- Atalay Mustafa
- Baier Leslie J.
- Berkowitz Robert, I
- Bisgaard Hans
- Blanco Estela
- Boh Eileen Tai-Hui
- Bonnefond Amelie
- Bonnelykke Klaus
- Bradfield Jonathan P.
- Brown Christopher D.
- Bustamante Mariona
- Butte Nancy F.
- Canouil Mickael
- Chen Zhanghua
- Chesi Alessandra
- Cole Shelley A.
- Comuzzie Anthony G.
- Cousminer Diana L.
- Cruz Miguel
- Curtin John A.
- Custovic Adnan
- Eriksson Johan
- Felix Janine F.
- Fernandez-Rhodes Lindsay
- Frithioff-Bojsoe Christine
- Froguel Philippe
- Gahagan Sheila
- Gauderman William J.
- Gilliland Frank D.
- Grant Struan F. A.
- Grarup Niels
- Hakonarson Hakon
- Hansen Torben
- Hanson Robert L.
- Have Christian T.
- Hebebrand Johannes
- Heinrich Joachim
- Helgeland Oyvind
- Highland Heather M.
- Hinney Anke
- Hollensted Mette
- Holm Jens-Christian
- Horikoshi Momoko
- Hypponen Elina
- Jaddoe Vincent W. V.
- Jarvelin Marjo-Riitta
- Johansson Stefan
- Joro Raimo
- Justice Anne E.
- Kahonen Mika
- Karhunen Ville
- Kobes Sayuko
- Lakka Timo A.
- Lehtimaki Terho
- Leinonen Jaakko T.
- Lindi Virpi
- Lowry Estelle
- Lyytikainen Leo-Pekka
- McCarthy Mark, I
- McCormack Shana E.
- Meyre David
- Monnereau Claire
- Njolstad Pal R.
- North Kari E.
- Parra Esteban J.
- Pedersen Oluf
- Pennell Craig E.
- Peralta-Romero Jesus
- Peters Triinu
- Pitkanen Niina
- Power Christine
- Raitakari Olli T.
- Rivadeneira Fernando
- Saw Seang-Mei
- Sebert Sylvain
- Simpson Angela
- Sorensen Thorkild I. A.
- Standl Marie
- Teo Koon K.
- Teo Yik-Ying
- Thiering Elisabeth
- Timpson Nicholas J.
- Uitterlinden Andre G.
- Valladares-Salgado Adan
- van Schaik Barbera D. C.
- Vaudel Marc
- Vilor-Tejedor Natalia
- Vioque Jesus
- Vogelezang Suzanne
- Voruganti V. Saroja
- Vrijheid Martine
- Vrijkotte Tanja G. M.
- Wang Carol A.
- Wang Yujie
- Widen Elisabeth
- Zafarmand Mohammad H.
- Zemel Babette S.
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- Field of study
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
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- 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
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- I
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- Maeterlinck Maurice
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- S. Rbli
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- S. Rbli
- S. Rbli
- S. Rbli
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- S. Rbli
- S. Rbli
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- S. Rcr N. S.
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- S.-A.
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- Sabbadino
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- Salvatore Farina
- Salvatore Farina
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- Saniere Debenedetti
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- Sansoni G. C.
- Santorre D
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- Scalvanti
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- Schofler
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- Schuohardt
- Scritti
- Seb Palmeri
- Sebarthee
- Seche
- Seche
- Seconda
- Seconda
- Seilliere
- Seoane Marques
- Sept Juli
- Serafino P
- Sero
- Sesto Fassini
- Sevigne Mme
- Sidney G
- Sidney G
- Siecle
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- Silvain Pouvreau
- Simioneeou
- Simon Caratsch
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- Smith M.
- Snow William
- Sociote In La
- Sode Les
- Sode Les
- Soldati-Manis Nozze
- Soler A.
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- Sommer
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- Sophie Apponyi Lettres
- Sovira
- Spanish Lang H. R.
- Spencer Dodgeon Eduardo
- Spencer Dodgson Eduardo
- Spitzer
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- Stanislas Reizler
- Stanley Leman G
- Steiner Eszti
- Steinilber
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- Storia
- Storia
- Storia
- Stoweil William
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- Stuart D.
- Stuart M
- Studi
- Studi
- Sturel
- Stuttgart
- Stuttgart
- Sues
- Suit Iturralde
- Sul
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- Szczepanski Mac
- Szombathely Marino
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- T
- T.
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- Taylor Una
- Teildruck M.
- Temps In Le
- Temps In Le
- Temps In Le
- Temps In Le
- Temps In Le
- Temps In Le
- Temps In Le
- Temps In Le
- Teodoro Flournoy
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- Terenzio Tocoi
- Teresa Ruga Maria
- Terraoina
- Textes
- Th A.
- Th Bornecque H. B.
- The
- The Kastner L. E.
- The Northup G. T.
- The Spanish Rennert H. A.
- Theo Spira
- Theodor Gerold
- Theodor Kalepky
- Theodor Kalepky
- Theodor Kalepky
- Theodor Kalepky
- Theuriet
- Theuriet
- Thomas
- Thomasset
- Thoophile Gautier
- Thoophile Gautier
- Thoophile Gautier
- Thoophile Gautier
- Thoophile Gautier
- Thoriaque La
- Timoneda Juan
- Tischner
- Tod
- Toledo Bd. I
- Tonelli F.
- Toni Fischer
- Torino
- Torquato Tasso
- Torquato Tasso
- Torquato Tasso
- Torre La
- TOU.
- Touflet
- Toujours
- Tournyol
- Trabajos de Diego Galan Cautiverio
- Trattato
- Tristan
- Tristan F. M. War r en Enoas
- Tristan Tomo XV.
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- v. Navarra Margareta
- v. Orleans Elisabeth Charlotte
- V. R
- v. Troyes Nioolas
- v. Valois Margareta
- v. Valois Margareta
- Vacandard
- Vaganay
- Vaillat
- Valdruche
- Valentin
- Valfrido Garda
- Vallier
- Varietä
- Vay
- Velasoo Lino Munarriz
- Velleman
- Venetian Livingeton A. A.
- Verdi
- Veronica Franco
- Verrier
- Vestigi
- Veuillot
- Veuillot
- VI
- Vianey
- Vianey
- Vicente Gay
- Vict Du Bled
- Victor
- Victor
- Victor
- Victor
- Victor C
- Victor Du Bled
- Victor Du Bled
- Victor Giraud
- Victor Hugo
- Victor Sallentien
- Vicuna Cifuentes
- Vidal
- VII
- Villari
- Villeneuve
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- Vinc Bartholomaeis
- Vinc Toscano
- Vincenzina Messina
- Vincenzo P
- Vindry F.
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- Voltaire
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- von Beaujeu Renaut
- von Bouillon Godefroi
- Von G. L. P
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- von Marseille Folquet
- von Metz Herviz
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- Välsan GiÜglea G. u. G.
- W.
- W.
- W. F
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- W. v.
- Waddington William
- Wagner J. K. G.
- Walberg
- Walter Bonary
- Walter Pater
- Walther Franke Max
- Walther Küchler
- Walther S
- Warszawska Biblioteka
- Weigand
- Weill
- Werder
- Werke S. M.
- Werr Gassner H.
- Wiehert
- Wilhelm T
- Wilhelm Weinmann
- Willcox C.
- Willibald
- Willibald
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- Winifred Smith
- Witte
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- Wolf Max
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- X S.
- X S.
- XV
- XVI
- XVII
- XXVIII
- XXVIII
- Yderroman
- York New
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- Zamet
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- Zeitschr S. M.
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- zu St Bibliothek
- Zur
- £·
- °·
- ßeatrice Cenci Guerrazzi F.D.
- ßeatrice Cenci Guerrazzi F.D.
- äficas R. C.
- äge
- ährig S.
- ätre de Maeterlinck Le
- öallo Juan Guzmann
- ös Sammlung
- ös Sammlung
- ös Sammlung
- ös Sammlung
- ösischen Zur
- ün
- ΙΛΕβρίηβ Jean
- Publication venue
- 'Walter de Gruyter GmbH'
- Publication date
- 01/01/1914
- Field of study