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...
Հիմնական հեղինակներ: | 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 |
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Ձևաչափ: | Journal article |
Լեզու: | English |
Հրապարակվել է: |
2014
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Նմանատիպ նյութեր
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Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis
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A phylogenetic study of SPBP and RAI1: evolutionary conservation of chromatin binding modules.
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VGLL4 targets a TCF4–TEAD4 complex to coregulate Wnt and Hippo signalling in colorectal cancer
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Coregulated human globin genes are frequently in spatial proximity when active
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Հրապարակվել է: (2006) -
SPBP is a sulforaphane induced transcriptional coactivator of NRF2 regulating expression of the autophagy receptor p62/SQSTM1.
: Sagar Ramesh Darvekar, և այլն
Հրապարակվել է: (2014-01-01)