Phenotypic complexities of rare heterozygous neurexin-1 deletions.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Kristen J Brennand, Lei Cao, P J Michael Deans, Yu Fan, Gang Fang, Michael B Fernando, Erin K Flaherty, Sadaf Ghorbani, Sarah Kammourh, David A Knowles, Aleta N Murphy, Ryan Onatzevitch, Christopher Padilla, Adriana Pero, Iya A Prytkova, Paul A Slesinger, Alex Tokolyi, Sarah E Williams, Yanchun Zhang

Ngôn ngữ: eng

Ký hiệu phân loại: 547.632 Phenols

Thông tin xuất bản: England : Nature , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 742865

Given the large number of genes significantly associated with risk for neuropsychiatric disorders, a critical unanswered question is the extent to which diverse mutations-sometimes affecting the same gene-will require tailored therapeutic strategies. Here we consider this in the context of rare neuropsychiatric disorder-associated copy number variants (2p16.3) resulting in heterozygous deletions in NRXN1, which encodes a presynaptic cell-adhesion protein that serves as a critical synaptic organizer in the brain. Complex patterns of NRXN1 alternative splicing are fundamental to establishing diverse neurocircuitry, vary between the cell types of the brain and are differentially affected by unique (non-recurrent) deletions
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH