MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome
Abstract Circumferential skin creases (CSC-KT) is a rare polymalformative syndrome characterised by intellectual disability associated with skin creases on the limbs, and very characteristic craniofacial malformations. Previously, heterozygous and homozygous mutations in MAPRE2 were found to be caus...
Main Authors: | Cedric Thues, Jorge S. Valadas, Liesbeth Deaulmerie, Ann Geens, Amit K. Chouhan, Ramon Duran-Romaña, Joost Schymkowitz, Frederic Rousseau, Michaela Bartusel, Rizwan Rehimi, Alvaro Rada-Iglesias, Patrik Verstreken, Hilde Van Esch |
---|---|
Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2021-03-01
|
Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-021-83771-3 |
Similar Items
-
Molecular Characterization of AtMAPRs in Arabidopsis
by: Ai-Ling Kao, et al.
Published: (2010) -
Potential Autoubiquitination of AtMAPRs in Arabidopsis
by: Ying-Han Lin, et al.
Published: (2009) -
The role of rhombencephalic neural crest in craniofacial patterning
by: Kontges, Georgy
Published: (1997) -
Tissue and Subcellular Localization of AtMAPRs from Arabidopsis
by: Kai-Ting Fan, et al.
Published: (2005) -
Editorial: Cranial Placodes and Neural Crest Interactions in Craniofacial Development
by: Jean-Pierre Saint-Jeannet, et al.
Published: (2021-04-01)