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• W1972506265 abstract "In humans, heterozygous mutations in the adenosine triphosphate-dependent chromatin remodeling gene CHD7 cause CHARGE syndrome, a common cause of deaf-blindness, balance disorders, congenital heart malformations, and olfactory dysfunction with an estimated incidence of approximately 1 in 10,000 newborns. The clinical features of CHARGE in humans and mice are highly variable and incompletely penetrant, and most mutations appear to result in haploinsufficiency of functional CHD7 protein. Mice with heterozygous loss of function mutations in Chd7 are a good model for CHARGE syndrome, and analyses of mouse mutant phenotypes have begun to clarify a role for CHD7 during development and into adulthood. Chd7 heterozygous mutant mice have postnatal delayed growth, inner ear malformations, anosmia/hyposmia, and craniofacial defects, and Chd7 homozygous mutants are embryonic lethal. A central question in developmental biology is how chromodomain proteins like CHD7 regulate important developmental processes, and whether they directly activate or repress downstream gene transcription or act more globally to alter chromatin structure and/or function. CHD7 is expressed in a wide variety of tissues during development, suggesting that it has tissue-specific and developmental stage-specific roles. Here, we review recent and ongoing analyses of CHD7 function in mouse models and cell-based systems. These studies explore tissue-specific effects of CHD7 deficiency, known CHD7 interacting proteins, and downstream target sites for CHD7 binding. CHD7 is emerging as a critical regulator of important developmental processes in organs affected by human CHARGE syndrome." @default.
• W1972506265 created "2016-06-24" @default.
• W1972506265 creator A5011401860 @default.
• W1972506265 creator A5036837500 @default.
• W1972506265 creator A5068022285 @default.
• W1972506265 date "2010-04-08" @default.
• W1972506265 modified "2023-09-29" @default.
• W1972506265 title "Chromodomain proteins in development: lessons from CHARGE syndrome" @default.
• W1972506265 cites W1534917150 @default.
• W1972506265 cites W1548284673 @default.
• W1972506265 cites W1572327520 @default.
• W1972506265 cites W1799167770 @default.
• W1972506265 cites W1902810312 @default.
• W1972506265 cites W1964041173 @default.
• W1972506265 cites W1969370783 @default.
• W1972506265 cites W1975210273 @default.
• W1972506265 cites W1976886867 @default.
• W1972506265 cites W1976915484 @default.
• W1972506265 cites W1977515912 @default.
• W1972506265 cites W1979495004 @default.
• W1972506265 cites W1984249881 @default.
• W1972506265 cites W1984578713 @default.
• W1972506265 cites W1987178480 @default.
• W1972506265 cites W1987213367 @default.
• W1972506265 cites W1990987097 @default.
• W1972506265 cites W1997670476 @default.
• W1972506265 cites W2003187305 @default.
• W1972506265 cites W2007839434 @default.
• W1972506265 cites W2008386530 @default.
• W1972506265 cites W2008747810 @default.
• W1972506265 cites W2012494987 @default.
• W1972506265 cites W2016606965 @default.
• W1972506265 cites W2019286990 @default.
• W1972506265 cites W2019933810 @default.
• W1972506265 cites W2022704218 @default.
• W1972506265 cites W2023713129 @default.
• W1972506265 cites W2024836293 @default.
• W1972506265 cites W2025419885 @default.
• W1972506265 cites W2025790767 @default.
• W1972506265 cites W2029375303 @default.
• W1972506265 cites W2035493030 @default.
• W1972506265 cites W2035797012 @default.
• W1972506265 cites W2037162373 @default.
• W1972506265 cites W2038299287 @default.
• W1972506265 cites W2039633795 @default.
• W1972506265 cites W2043153437 @default.
• W1972506265 cites W2047304258 @default.
• W1972506265 cites W2049156910 @default.
• W1972506265 cites W2050192633 @default.
• W1972506265 cites W2052060728 @default.
• W1972506265 cites W2052818299 @default.
• W1972506265 cites W2055950761 @default.
• W1972506265 cites W2057474301 @default.
• W1972506265 cites W2059227599 @default.
• W1972506265 cites W2063767893 @default.
• W1972506265 cites W2069491433 @default.
• W1972506265 cites W2074064220 @default.
• W1972506265 cites W2074100887 @default.
• W1972506265 cites W2076063204 @default.
• W1972506265 cites W2079455457 @default.
• W1972506265 cites W2080731586 @default.
• W1972506265 cites W2082567345 @default.
• W1972506265 cites W2085057361 @default.
• W1972506265 cites W2085916218 @default.
• W1972506265 cites W2092710299 @default.
• W1972506265 cites W2101121629 @default.
• W1972506265 cites W2102539783 @default.
• W1972506265 cites W2102709024 @default.
• W1972506265 cites W2102989229 @default.
• W1972506265 cites W2114570499 @default.
• W1972506265 cites W2114905487 @default.
• W1972506265 cites W2116040812 @default.
• W1972506265 cites W2116864075 @default.
• W1972506265 cites W2119610358 @default.
• W1972506265 cites W2119848173 @default.
• W1972506265 cites W2122087314 @default.
• W1972506265 cites W2122377572 @default.
• W1972506265 cites W2122803804 @default.
• W1972506265 cites W2123193985 @default.
• W1972506265 cites W2131729017 @default.
• W1972506265 cites W2134371698 @default.
• W1972506265 cites W2142402192 @default.
• W1972506265 cites W2143951372 @default.
• W1972506265 cites W2144968224 @default.
• W1972506265 cites W2146567515 @default.
• W1972506265 cites W2149229961 @default.
• W1972506265 cites W2150666000 @default.
• W1972506265 cites W2152509610 @default.
• W1972506265 cites W2157747554 @default.
• W1972506265 cites W2160897315 @default.
• W1972506265 cites W2169590130 @default.
• W1972506265 cites W2170792029 @default.
• W1972506265 cites W4252854803 @default.
• W1972506265 doi "https://doi.org/10.1111/j.1399-0004.2010.01446.x" @default.
• W1972506265 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3097394" @default.
• W1972506265 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20507341" @default.
• W1972506265 hasPublicationYear "2010" @default.
• W1972506265 type Work @default.

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