De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
BACKGROUND: Autism spectrum disorders (ASDs) are common and have a strong genetic basis, yet the cause of ∼70-80% ASDs remains unknown. By clinical cytogenetic testing, we identified a family in which two brothers had ASD, mild intellectual disability and a chromosome 22 pericentric inversion, not d...
প্রধান লেখক: | Babbs, C, Lloyd, D, Pagnamenta, A, Twigg, SR, Green, J, McGowan, S, Mirza, G, Naples, R, Sharma, V, Volpi, E, Buckle, V, Wall, SA, Knight, S, Parr, JR, Wilkie, A |
---|---|
বিন্যাস: | Journal article |
ভাষা: | English |
প্রকাশিত: |
2014
|
অনুরূপ উপাদানগুলি
অনুরূপ উপাদানগুলি
-
Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis
অনুযায়ী: Goos, J, অন্যান্য
প্রকাশিত: (2016) -
VGLL4 targets a TCF4–TEAD4 complex to coregulate Wnt and Hippo signalling in colorectal cancer
অনুযায়ী: Shi Jiao, অন্যান্য
প্রকাশিত: (2017-01-01) -
Coregulated human globin genes are frequently in spatial proximity when active
অনুযায়ী: Brown, J, অন্যান্য
প্রকাশিত: (2006) -
SPBP is a sulforaphane induced transcriptional coactivator of NRF2 regulating expression of the autophagy receptor p62/SQSTM1.
অনুযায়ী: Sagar Ramesh Darvekar, অন্যান্য
প্রকাশিত: (2014-01-01) -
De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder
অনুযায়ী: Reijnders, M, অন্যান্য
প্রকাশিত: (2018)