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Developmental Cell, ISSN 1534-5807, 05/2019, Volume 49, Issue 4, pp. 556 - 573.e6
Chromatin remodeling accompanies differentiation, however, its role in self-renewal is less well understood. We report that in , the chromatin remodeler... 
Drosophila midgut | Trr/MLL3/4 | Kismet/CHD7/CHD8 | Epigenetic | Cbl | chromatin regulators | EGFR | Proliferation control | adult stem cells | tissue homeostasis | GROWTH-FACTOR RECEPTOR | DROSOPHILA HOMOLOG | GENE | TISSUE HOMEOSTASIS | IN-VIVO | D-CBL | SELF-RENEWAL | DEVELOPMENTAL BIOLOGY | KABUKI SYNDROMES | MUTATIONS | EGFR PATHWAY | CELL BIOLOGY | Life Sciences | MLL3 | CHD8 | CHD7 | Trr | Kismet
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 773 - 788
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 514, Issue 7521, pp. 228 - 232
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 05/2018, Volume 38, Issue 19, pp. 4460 - 4461
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2015, Volume 125, Issue 6, pp. 2413 - 2428
Journal Article
Medicine (United States), ISSN 0025-7974, 07/2018, Volume 97, Issue 27
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2017, Volume 175, Issue 4, pp. 417 - 430
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 12/2017, Volume 8, pp. 210 - 210
We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear... 
CHARGE syndrome | KMT2D | Kabuki syndrome | Phenotypic overlap | CHD7 | MLL2 | CHD7 MUTATION | ANOMALIES | PHENOTYPIC SPECTRUM | DEFICIENCY | COLOBOMA | CHOANAL ATRESIA | phenotypic overlap | GENETICS & HEREDITY | OVERLAP | KALLMANN-SYNDROME | PATIENT | Genetic research | Health aspects | Genetic aspects
Journal Article
DEVELOPMENT, ISSN 0950-1991, 07/2019, Volume 146, Issue 13, p. dev170522
The transcription factor sex determining region Y-box 2 (SOX2) is required for the formation of hair cells and supporting cells in the inner ear and is a... 
PROGENITOR CELLS | CELL FATE SPECIFICATION | Otocyst | Specification | DEVELOPMENTAL BIOLOGY | CHD7 FUNCTION | Inner ear | ORGAN | STEM | SOX2 | HAIR-CELLS | Mouse | CYCLE EXIT | Cochlea | DIFFERENTIATION | Sensory | EXPRESSION
Journal Article
European journal of medical genetics, ISSN 1769-7212, 05/2019
CHARGE syndrome is an autosomal dominant congenital disorder caused primarily by mutations in the CHD7 gene. Using a small molecule screen in a zebrafish model... 
Journal Article
Journal Article
Annals of Pediatric Endocrinology and Metabolism, ISSN 2287-1012, 03/2019, Volume 24, Issue 1, pp. 49 - 54
Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome... 
CHARGE syndrome | Pubertal delay | CHD7 | Novel mutation | Case Report
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 04/2018, Volume 35, Issue 2, pp. 244 - 247
Journal Article