TMEM161B modulates radial glial scaffolding in neocortical development

TMEM161B encodes an evolutionarily conserved widely expressed novel 8-pass transmembrane protein of unknown function in human. Here we identify TMEM161B homozygous hypomorphic missense variants in our recessive polymicrogyria (PMG) cohort. Patients carrying TMEM161B mutations exhibit striking neocor...

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Detalles Bibliográficos
Autores principales: Wang, Lu, Heffner, Caleb, Vong, Keng loi, Barrows, Chelsea, Ha, Yoo-Jin, Lee, Sangmoon, Lara-Gonzalez, Pablo, Jhamb, Ishani, Van Der Meer, Dennis, Loughnan, Robert, Parker, Nadine, Sievert, David, Mittal, Swapnil, Issa, Mahmoud Y., Andreassen, Ole A., Dale, Anders, Dobyns, William B., Zaki, Maha S., Murray, Stephen A., Gleeson, Joseph G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2023
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9942823/
https://www.ncbi.nlm.nih.gov/pubmed/36669109
http://dx.doi.org/10.1073/pnas.2209983120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9942823/
https://www.ncbi.nlm.nih.gov/pubmed/36669109
http://dx.doi.org/10.1073/pnas.2209983120

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