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- W2045539393 endingPage "1160" @default.
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- W2045539393 abstract "CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling. Loss-of-function mutations in CHD7 are known to cause CHARGE syndrome, an autosomal-dominant malformation syndrome in which several organ systems, for example, the central nervous system, eye, ear, nose, and mediastinal organs, are variably involved. In this article, we review all the currently described CHD7 variants, including 183 new pathogenic mutations found by our laboratories. In total, we compiled 528 different pathogenic CHD7 alterations from 508 previously published patients with CHARGE syndrome and 294 unpublished patients analyzed by our laboratories. The mutations are equally distributed along the coding region of CHD7 and most are nonsense or frameshift mutations. Most mutations are unique, but we identified 94 recurrent mutations, predominantly arginine to stop codon mutations. We built a locus-specific database listing all the variants that is easily accessible at www.CHD7.org. In addition, we summarize the latest data on CHD7 expression studies, animal models, and functional studies, and we discuss the latest clinical insights into CHARGE syndrome. Hum Mutat 33:1149–1160, 2012. © 2012 Wiley Periodicals, Inc." @default.
- W2045539393 created "2016-06-24" @default.
- W2045539393 creator A5010714367 @default.
- W2045539393 creator A5026408247 @default.
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- W2045539393 creator A5040752527 @default.
- W2045539393 creator A5052368642 @default.
- W2045539393 creator A5068452281 @default.
- W2045539393 creator A5074421387 @default.
- W2045539393 creator A5085342539 @default.
- W2045539393 date "2012-04-16" @default.
- W2045539393 modified "2023-10-14" @default.
- W2045539393 title "Mutation update on the CHD7 gene involved in CHARGE syndrome" @default.
- W2045539393 cites W1572327520 @default.
- W2045539393 cites W1588606760 @default.
- W2045539393 cites W1969370783 @default.
- W2045539393 cites W1972506265 @default.
- W2045539393 cites W1975210273 @default.
- W2045539393 cites W1976581270 @default.
- W2045539393 cites W1977391705 @default.
- W2045539393 cites W1977515912 @default.
- W2045539393 cites W1987178480 @default.
- W2045539393 cites W1987207509 @default.
- W2045539393 cites W1987213367 @default.
- W2045539393 cites W1989901196 @default.
- W2045539393 cites W1990829663 @default.
- W2045539393 cites W1991683917 @default.
- W2045539393 cites W1994191614 @default.
- W2045539393 cites W1994505633 @default.
- W2045539393 cites W1995134475 @default.
- W2045539393 cites W2006278806 @default.
- W2045539393 cites W2007839434 @default.
- W2045539393 cites W2008687409 @default.
- W2045539393 cites W2008747810 @default.
- W2045539393 cites W2011151314 @default.
- W2045539393 cites W2012329831 @default.
- W2045539393 cites W2015233788 @default.
- W2045539393 cites W2016606965 @default.
- W2045539393 cites W2021615791 @default.
- W2045539393 cites W2022073424 @default.
- W2045539393 cites W2023106353 @default.
- W2045539393 cites W2023713129 @default.
- W2045539393 cites W2025419885 @default.
- W2045539393 cites W2025708683 @default.
- W2045539393 cites W2025790767 @default.
- W2045539393 cites W2026894384 @default.
- W2045539393 cites W2027154027 @default.
- W2045539393 cites W2028979432 @default.
- W2045539393 cites W2029375303 @default.
- W2045539393 cites W2034709147 @default.
- W2045539393 cites W2035493030 @default.
- W2045539393 cites W2037162373 @default.
- W2045539393 cites W2038299287 @default.
- W2045539393 cites W2039633795 @default.
- W2045539393 cites W2040882621 @default.
- W2045539393 cites W2047035086 @default.
- W2045539393 cites W2049156910 @default.
- W2045539393 cites W2055950761 @default.
- W2045539393 cites W2057900870 @default.
- W2045539393 cites W2058496300 @default.
- W2045539393 cites W2059366905 @default.
- W2045539393 cites W2059505790 @default.
- W2045539393 cites W2060272403 @default.
- W2045539393 cites W2061173495 @default.
- W2045539393 cites W2063767893 @default.
- W2045539393 cites W2066858953 @default.
- W2045539393 cites W2069491433 @default.
- W2045539393 cites W2070562883 @default.
- W2045539393 cites W2071489834 @default.
- W2045539393 cites W2071919361 @default.
- W2045539393 cites W2074146701 @default.
- W2045539393 cites W2074343656 @default.
- W2045539393 cites W2074801783 @default.
- W2045539393 cites W2074802551 @default.
- W2045539393 cites W2076326423 @default.
- W2045539393 cites W2079455457 @default.
- W2045539393 cites W2080882810 @default.
- W2045539393 cites W2082382656 @default.
- W2045539393 cites W2082567345 @default.
- W2045539393 cites W2085916218 @default.
- W2045539393 cites W2088770742 @default.
- W2045539393 cites W2090712436 @default.
- W2045539393 cites W2092710299 @default.
- W2045539393 cites W2095603572 @default.
- W2045539393 cites W2098003767 @default.
- W2045539393 cites W2101164395 @default.
- W2045539393 cites W2102473920 @default.
- W2045539393 cites W2102539783 @default.
- W2045539393 cites W2102709024 @default.
- W2045539393 cites W2104655319 @default.
- W2045539393 cites W2108392516 @default.
- W2045539393 cites W2108575348 @default.
- W2045539393 cites W2110603311 @default.
- W2045539393 cites W2114570499 @default.
- W2045539393 cites W2114905487 @default.
- W2045539393 cites W2116040812 @default.
- W2045539393 cites W2116864075 @default.