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

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

Auriculocondylar syndrome 2 (ARCND2) is a rare autosomal dominant craniofacial malformation syndrome linked to multiple genetic variants in the coding sequence of phospholipase C β4 (PLCB4). PLCB4 is a direct signaling effector of the endothelin receptor type A (EDNRA)-Gq/11 pathway, which establish...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: The Company of Biologists 2022-04-01
Series:Disease Models & Mechanisms
Subjects:
craniofacial
g protein
neural crest cell
crispr
evolution
mice
Online Access:http://dmm.biologists.org/content/15/4/dmm049320

Internet

http://dmm.biologists.org/content/15/4/dmm049320

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