Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism

Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism

CSF1R encodes the colony-stimulating factor 1 receptor which regulates the proliferation, differentiation, and biological activity of monocyte/macrophage lineages. Pathogenic variants in CSF1R could lead to autosomal dominant adult-onset leukoencephalopathy with axonal spheroids and pigmented glia o...

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Bibliographic Details
Main Authors: Bowen Liu, Sen Zhao, Zihui Yan, Lina Zhao, Jiachen Lin, Shengru Wang, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Terry Jianguo Zhang, Zhihong Wu, Nan Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
colony stimulating factor 1 receptor
congenital vertebra malformation
C-terminal variant
gain-of-function mechanism
zebrafish model
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.641133/full

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https://www.frontiersin.org/articles/10.3389/fcell.2021.641133/full

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