5 research outputs found
A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse
- Author
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- Field of study
Neural Crest Stem Cells
- Author
- A. Erlebacher
- B. Kanzler
- C. Paratore
- C.J. Kubu
- D.L. Stemple
- E.A. Carver
- G. Dechant
- G.M. Kruger
- H.Y. Lee
- J. Kim
- J.G. Toma
- J.G. Toma
- K. Soo
- K.J. Fernandes
- L.A. Hanna
- M. Guzman-Ayala
- M. Kleber
- M. Miura
- M. Sieber-Blum
- N.M. Shah
- N.M. Shah
- P. Soriano
- P.M. White
- Q.L. Ying
- R. Jiang
- R.W. Stottmann
- S. Bixby
- S. Britsch
- S.J. Morrison
- T. Iwashita
- X. Qi
- Y. Chai
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2006
- Field of study
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
- Author
- Akleh H.
- Al Fares A.
- Al Ghamdi M.
- Alhashem A.
- Aljeaid D.
- Alkuraya F.S.
- Basel-Salmon L.
- Bauer P.
- Bazak L.
- Bertoli-Avella A.
- Brunetti-Pierri N.
- Cappuccio G.
- Columbaro M.
- Davidov B.
- de Wit M.C.Y.
- Demmers J.
- Divizia M.T.
- Dobyns W.B.
- Dremmen M.
- Fornerod M.
- Gawlinski P.
- Gleeson J.G.
- Hopkin R.J.
- Hufnagel R.B.
- Jansen A.C.
- Kasteleijn E.
- Laure-Kamionowska M.
- Lequin M.H.
- Magini P.
- Mancini G.M.S.
- Mirzaa G.M.
- Musaev D.
- Ordonez-Herrera N.
- Palombo F.
- Pippucci T.
- Rolfs A.
- Schot R.
- Seri M.
- Severino M.
- Shahar N.R.
- Smits D.J.
- Stanley V.
- Stottmann R.W.
- Striano P.
- van der Ent M.
- van der Spek P.J.
- van Slegtenhorst M.
- Vandervore L.
- Verheijen F.W.
- Wilke M.
- Wiszniewski W.
- Zaki M.S.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2019
- Field of study
Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis. Children from 12 unrelated families presented with microcephaly, simplified gyral pattern of the cortex, hypomyelination, cerebellar hypoplasia, congenital arthrogryposis, and early fetal/postnatal demise. Genomic analysis revealed bi-allelic loss-of-function variants in SMPD4, coding for the neutral sphingomyelinase-3 (nSMase-3/SMPD4). Overexpression of human Myc-tagged SMPD4 showed localization both to the outer nuclear envelope and the ER and additionally revealed interactions with several nuclear pore complex proteins by proteomics analysis. Fibroblasts from affected individuals showed ER cisternae abnormalities, suspected for increased autophagy, and were more susceptible to apoptosis under stress conditions, while treatment with siSMPD4 caused delayed cell cycle progression. Our data show that SMPD4 links homeostasis of membrane sphingolipids to cell fate by regulating the cross-talk between the ER and the outer nuclear envelope, while its loss reveals a pathogenic mechanism in microcephaly
Neural Crest Contribution to the Cardiovascular System
- Author
- A. Asakura
- A. Baldini
- A. Graham
- A. Inoue
- A. Nohe
- A. Orr-Urtreger
- A.A. Levin
- A.D. Gitler
- A.G. Reaume
- A.M. Koppel
- B.L. Hogan
- C. Gu
- C. Kioussi
- C. Liu
- C.B. Brown
- C.B. Brown
- C.H. Mjaatvedt
- C.S. Lievre Le
- C.W. Lo
- D. Franco
- D. Lang
- D. Lohnes
- D. Zhang
- D.A. Driscoll
- D.A. Driscoll
- D.A. Driscoll
- D.E. Bockman
- D.E. Bockman
- D.E. Bockman
- D.J. Epstein
- D.J. Epstein
- D.U. Frank
- E. Goldmuntz
- E.A. Lindsay
- E.C. Delot
- E.N. Olson
- F. Vitelli
- F. Vitelli
- G. Couly
- G. Proetzel
- G.E. Winnier
- G.Q. Zhao
- G.R. Lewin
- G.Y. Huang
- H. Arai
- H. Grunberg
- H. Wurdak
- H. Xu
- H. Yagi
- H. Yamagishi
- H. Yanagisawa
- H. Yanagisawa
- H.C. Etchevers
- H.C. Etchevers
- H.H. Yu
- I.A. Scarisbrick
- J. Burn
- J. Capdevila
- J. Larsson
- J. Li
- J. Li
- J. Ya
- J. Ya
- J.A. Epstein
- J.A. Epstein
- J.A. Epstein
- J.G. Wilson
- J.G. Wilson
- J.G. Wilson
- J.L. Ewart
- J.O. Hiltunen
- K. Iida
- K. Niederreither
- K. Niederreither
- K. Waldo
- K. Waldo
- K.H. Kaestner
- K.J. Vogan
- K.L. Waldo
- K.L. Waldo
- K.L. Waldo
- K.L. Waldo
- K.L. Waldo
- L. Feiner
- L. Fredriksson
- L. Kochilas
- L. Tessarollo
- L.A. Jerome
- M. Barbacid
- M. Caestecker de
- M. Farrell
- M. Nishibatake
- M. Oshima
- M.D. Tallquist
- M.J. Donovan
- M.J. Farrell
- M.J. Hoff van den
- M.J. Peters-van der Sanden
- M.L. Kirby
- M.L. Kirby
- M.L. Kirby
- M.L. Kirby
- M.L. Kirby
- M.R. Hutson
- M.V. Cruz de la
- N.M. Douarin Le
- N.M. LeDouarin
- N.S. Hamblet
- P. Seale
- P. Soriano
- P. Soriano
- R. Abu-Issa
- R. Abu-Issa
- R. Auerbach
- R. Matsuoka
- R.A. Heyman
- R.E. Poelmann
- R.E. Poelmann
- R.G. Kelly
- R.P. Harvey
- R.W. Stottmann
- S. Kallapur
- S. Merscher
- S. Webb
- S. Zaffran
- S.J. Conway
- S.J. Conway
- S.J. Conway
- T. Franz
- T. Hiruma
- T. Hiruma
- T. Hu
- T. Kume
- T. Pietri
- T. Sakurai
- T.J. Desai
- T.L. Creazzo
- T.L. Creazzo
- T.L. Macatee
- T.M. Yelbuz
- T.M. Yelbuz
- U. Bartram
- V. Brondani
- V. Giguere
- V. Kaartinen
- W. Liu
- W.E. Li
- W.Y. Chan
- X. Jiang
- X. Jiang
- Y. Ito
- Y. Luo
- Y. Mishina
- Y. Shi
- Y. Yamauchi
- Y.H. Youn
- Y.P. Yang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2006
- Field of study
Branching Morphogenesis in Vertebrate Neurons
- Author
- A. Acebes
- A. Augsburger
- A. Davy
- A. Hall
- A. Inoue
- A. Kossel
- A. Kruttgen
- A. Leingartner
- A. Markus
- A. Matus
- A. Matus
- A. Matus
- A. Pavlik
- A. Prochiantz
- A. Ridley
- A. Shimada
- A. Tabuchi
- A.F. Schinder
- A.H. Kossel
- A.J. Furley
- A.J. Ridley
- A.K. Butler
- A.K. Lewis
- A.K. McAllister
- A.K. McAllister
- A.K. McAllister
- A.K. McAllister
- A.K. McAllister
- A.L. Bishop
- A.L. Kolodkin
- A.L. Roskies
- A.M. Ainsztein
- A.M. Craig
- A.M. Craig
- A.M. Davies
- A.M. Davies
- A.M. Davies
- A.M. Harvey
- A.M. Sydor
- A.M. Turing
- A.P. Braun
- A.R. Kriegstein
- A.S. Leonard
- A.S. Nilsson
- A.T. Schaefer
- A.Y. Deutch
- A.Y. Nakayama
- A.Y. Nakayama
- B. Berninger
- B. Berninger
- B. Chamak
- B. Clendening
- B. Clendening
- B. Knoll
- B. Lorn
- B. Monschau
- B. Winckler
- B. Winckler
- B.A. Barres
- B.D. Johnson
- B.D. Philpot
- B.J. Dickson
- B.S. McEwen
- B.W. Sheasby
- C. Albertinazzi
- C. Faivre-Sarrailh
- C. Faivre-Sarrailh
- C. Faivre-Sarrailh
- C. Faivre-Sarrailh
- C. Gaiddon
- C. Labelle
- C. Sanchez
- C. Sotelo
- C. Strohmaier
- C. Wetmore
- C.A. Baptista
- C.B. Chien
- C.C. Tsui
- C.D. McCaig
- C.D. Toran-Allerand
- C.E. Henderson
- C.G. Dotti
- C.H. Lin
- C.M. Niell
- C.M. Waterman-Storer
- C.S. Bartheld van
- C.S. Bartheld van
- C.S. Goodman
- C.S. Goodman
- C.S. Woolley
- D. Bray
- D. Bray
- D. Higgins
- D. Hogan
- D. Kryl
- D. Kuhl
- D. Lindholm
- D. Lindholm
- D. Lindholm
- D. Lindholm
- D. Purves
- D. Purves
- D. Purves
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- D. Vactor Van
- D. Vactor Van
- D. Xu
- D.A. Vouyiouklis
- D.D. O’Leary
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- D.E. Hillman
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- D.F. Condorelli
- D.G. Wells
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- D.J. Goldberg
- D.J. Mackay
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- D.J. Zou
- D.K. Simon
- D.L. Foletti
- D.L. Morgan
- D.M. Kingsley
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- D.M. Valenzuela
- D.R. Kaplan
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- D.V. Vactor Van
- D.W. Burmeister
- D.W. Rickman
- E. Castren
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- E. Mohr
- E. Nedivi
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- E. Ruoslahti
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- E. Ruoslahti
- E. Tanaka
- E. Thies
- E. Tongiorgi
- E. Tongiorgi
- E.G. Jones
- E.J. Huang
- E.M. Quinlan
- E.M. Quinlan
- E.M. Tanaka
- E.S. Lein
- E.T. Coffey
- E.W. Dent
- E.W. Dent
- F. Angenstein
- F. Bradke
- F. Bradke
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- F. Lafont
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- F. Lamballe
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- F. Polleux
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- F. Sato
- F. Solomon
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- F. Stastny
- F. Yang
- F. Zafra
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- F.J. Ahmad
- F.J. Ahmad
- F.J. Diez-Guerra
- F.J. Diez-Guerra
- F.J. Diez-Guerra
- F.J. McNally
- F.L. Watson
- F.M. Benes
- G. Audesirk
- G. Banker
- G. Drewes
- G. Gallo
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- G. Kadmon
- G. Martinez
- G. Mellitzer
- G. Morfini
- G. Morfini
- G. Perides
- G. Pfeiffer
- G. Ruthel
- G. Szebenyi
- G. Szebenyi
- G. Vrbova
- G.A. Banker
- G.A. Banker
- G.G. Borisy
- G.G. Turrigiano
- G.L. Lyford
- G.M. Edelman
- G.M. Edelman
- G.R. Lewin
- G.S. Naeve
- G.S. Withers
- G.Y. Wu
- G.Y. Wu
- H. Bito
- H. Chen
- H. Fujita
- H. Fukumitsu
- H. Hirai
- H. Kasai
- H. Kunizuka
- H. Neumann
- H. Paves
- H. Schulman
- H. Schulman
- H. Steinbeisser
- H. Thoenen
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- H. Yanagida
- H.A. Cameron
- H.E. Bulow
- H.J. Cheng
- H.J. Song
- H.L. Zhang
- H.S. Li
- H.T. Cline
- H.T. Cline
- H.W. Horch
- I. Cantallops
- I. Ginzburg
- I. Neveu
- I. Rajan
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- I. Vastrik
- J. Alder
- J. Altman
- J. Condeelis
- J. Eberwine
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- J. Holmberg
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- J.A. Raper
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- J.A. Ripellino
- J.C. Conover
- J.C. Fiala
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- J.E. Cavanaugh
- J.E. Dowling
- J.E. Vaughn
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- J.E. Vaughn
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- J.F. Fohlmeister
- J.F. Guzowski
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- J.F. Zmuda
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- J.G. Flanagan
- J.G. Parnavelas
- J.H. Neale
- J.K. Pinkstaff
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- J.L. Bixby
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- J.L. Nicholson
- J.L. Nicholson
- J.M. Aletta
- J.M. Lauder
- J.M. Pasquini
- J.P. Fawcett
- J.Q. Zheng
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- J.R. Sanes
- J.S. Deitch
- J.S. Deitch
- K. Arndt
- K. Brose
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- K. Fukunaga
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- K. Goslin
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- K. Huber
- K. Kalil
- K. Kohara
- K. Mertz
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- K. Schilling
- K. Zhou
- K.D. Murray
- K.G. Ruit
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- K.L. Tucker
- K.L. Whitford
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- K.M. Huber
- K.M. Kollins
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- K.M. Yamada
- K.S. Dingwell
- K.T. Edds
- K.U. Bayer
- K.W. Tosney
- L. Cabell
- L. Ferhat
- L. Ferhat
- L. Luckenbill-Edds
- L. Luo
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- L. Minichiello
- L. Redmond
- L.A. Flanagan
- L.A. Lopez
- L.C. Katz
- L.C. Katz
- L.C. Katz
- L.I. Benowitz
- L.I. Binder
- M. Bahjaoui-Bouhaddi
- M. Barbacid
- M. Barbacid
- M. Barbacid
- M. Bastmeyer
- M. Bastmeyer
- M. Bibel
- M. Caleo
- M. Canossa
- M. Chao
- M. Chrzanowska-Wodnicka
- M. Fukuda
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- M. Kojima
- M. Korte
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- M. Montero
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- M. Yuzaki
- M.A. Utton
- M.A. Wilk-Blaszczak
- M.B. Feller
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- N. Hirokawa
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- N.E. Ziv
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- T. Audesirk
- T. Brummendorf
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- T. Lee
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- T. Mitchison
- T. Pizzorusso
- T. Pizzorusso
- T. Ringstedt
- T. Sakai
- T. Sakurai
- T. Sarafian
- T. Takahashi
- T. Timmusk
- T. Yagi
- T.A. Hely
- T.A. Schroer
- T.A. Schroer
- T.B. Kuhn
- T.B. Kuhn
- T.B. Kuhn
- T.R. Soderling
- T.W. Gong
- U. Drescher
- U. Drescher
- U. Drescher
- U. Drescher
- V. Castellani
- V. Castellani
- V. Chan-Palay
- W. Rall
- W. Rall
- W. Rall
- W. Rall
- W. Rall
- W.D. Snider
- W.D. Snider
- W.D. Snider
- W.J. Friedman
- W.M. Fu
- W.M. Jurney
- W.P. Bartlett
- W.P. Bartlett
- W.Q. Gao
- W.T. Wong
- X. Bi
- X. Guo
- X. Lin
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- Y. Akaneya
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- Y. Fujita
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- Y.A. Barde
- Y.A. Barde
- Y.K. Hayashi
- Y.K. Hayashi
- Z. Jin
- Z. Li
- Z.F. Mainen
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2005
- Field of study