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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Salvato in:
Dettagli Bibliografici
Pubblicato in:Front Cell Dev Biol
Autori principali: Liu, Bowen, Zhao, Sen, Yan, Zihui, Zhao, Lina, Lin, Jiachen, Wang, Shengru, Niu, Yuchen, Li, Xiaoxin, Qiu, Guixing, Zhang, Terry Jianguo, Wu, Zhihong, Wu, Nan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2021
Soggetti:
Cell and Developmental Biology
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8017210/
https://ncbi.nlm.nih.gov/pubmed/33816491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.641133
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