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Keywords: Craniofacial
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Journal Articles

Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis

In collection:
Developmental Disorders
Sabrina Shameen Alam, Shruti Kumar, Marie-Claude Beauchamp, Eric Bareke, Alexia Boucher, Nadine Nzirorera, Yanchen Dong, Reinnier Padilla, Si Jing Zhang, Jacek Majewski, Loydie A. Jerome-Majewska
Journal: Disease Models & Mechanisms
Dis Model Mech (2022) 15 (6): dmm049544.
https://doi.org/10.1242/dmm.049544
Published: 23 June 2022
... ribonucleoprotein particles of the spliceosome, are responsible for cerebrocostomandibular syndrome (CCMS). We show that Snrpb heterozygous mouse embryos arrest shortly after implantation. Additionally, heterozygous deletion of Snrpb in the developing brain and neural crest cells models craniofacial malformations...
View article titled, Snrpb is required in murine neural crest cells for proper splicing and <span class="search-highlight">craniofacial</span> morphogenesis
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Includes: Supplementary data
Journal Articles

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants

In collection:
Developmental Disorders , Human Genetic Disease
Stanley M. Kanai, Caleb Heffner, Timothy C. Cox, Michael L. Cunningham, Francisco A. Perez, Aaron M. Bauer, Philip Reigan, Cristan Carter, Stephen A. Murray, David E. Clouthier
Journal: Disease Models & Mechanisms
Dis Model Mech (2022) 15 (4): dmm049320.
https://doi.org/10.1242/dmm.049320
Published: 29 April 2022
...Stanley M. Kanai; Caleb Heffner; Timothy C. Cox; Michael L. Cunningham; Francisco A. Perez; Aaron M. Bauer; Philip Reigan; Cristan Carter; Stephen A. Murray; David E. Clouthier ABSTRACT Auriculocondylar syndrome 2 (ARCND2) is a rare autosomal dominant craniofacial malformation syndrome linked...
View article titled, Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants
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Includes: Supplementary data
Journal Articles

Using the avian mutant talpid 2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome

Elizabeth N. Schock, Ching-Fang Chang, Jaime N. Struve, Ya-Ting Chang, Julie Chang, Mary E. Delany, Samantha A. Brugmann
Journal: Disease Models & Mechanisms
Dis Model Mech (2015) 8 (8): 855–866.
https://doi.org/10.1242/dmm.020222
Published: 1 August 2015
... ). The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2 . Development   141 , 3003 - 3012 . 10.1242/dev.105924 Darnell , D. K. , Kaur , S. , Stanislaw , S. , Davey , S. , Konieczka , J. H. , Yatskievych , T. A. and Antin , P...
View article titled, Using the avian mutant talpid 2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome
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Includes: Supplementary data
Journal Articles

Tfap2a -dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage

Rebecca M. Green, Weiguo Feng, Tzulip Phang, Jennifer L. Fish, Hong Li, Richard A. Spritz, Ralph S. Marcucio, Joan Hooper, Heather Jamniczky, Benedikt Hallgrímsson, Trevor Williams
Journal: Disease Models & Mechanisms
Dis Model Mech (2015) 8 (1): 31–43.
https://doi.org/10.1242/dmm.017616
Published: 1 January 2015
....   Jr ( 2006 ). Recent advances in craniofacial morphogenesis . Dev. Dyn.   235 , 2353 – 2375 . Cooper   W. J. , Albertson   R. C. ( 2008 ). Quantification and variation in experimental studies of morphogenesis . Dev. Biol.   321 , 295 – 302 . Das   A. , Crump   J. G...
View article titled, Tfap2a -dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage
Open the PDF for Tfap2a -dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage in another window
Includes: Supplementary data