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Chromodomain helicase DNA binding protein 7

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, FGFR1, Kms, PKR2
Papers on CHD7
12th international CHARGE syndrome conference proceedings.
Hefner et al., Saint Louis, United States. In Am J Med Genet A, Feb 2016
Here, we summarize presentations from the meeting, including a synopsis of each of the three different breakout sessions (Medical/Clinical, Basic Science/CHD7, and Education), followed by a list of abstracts and authors for both platform and poster presentations.
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.
Casteels et al., Leuven, Belgium. In Horm Res Paediatr, Feb 2016
Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation or deletion in the CHD7 gene.
Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.
Martin et al., Ann Arbor, United States. In Invest Ophthalmol Vis Sci, Jan 2016
Heterozygous mutations in CHD7 cause CHARGE syndrome in 70% to 90% of patients.
Genetics of Hypogonadotropic Hypogonadism.
Kotan et al., In Endocr Dev, Dec 2015
In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10).
CHARGE syndrome with oculomotor nerve palsy.
Hwang et al., Seoul, South Korea. In J Aapos, Dec 2015
He had patent ductus arteriosus, small testicles, growth retardation, auricular deformity, left semicircular canal aplasia, and a de novo nonsense mutation (p.Ser705X) of the CHD7 gene.
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
Martin et al., Ann Arbor, United States. In Am J Med Genet A, Dec 2015
Heterozygous pathogenic variants in the chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome, and have been identified in 70-90% of individuals fulfilling clinical diagnostic criteria.
CHARGE syndrome: a review of the immunological aspects.
van Ravenswaaij-Arts et al., Groningen, Netherlands. In Eur J Hum Genet, Nov 2015
CHARGE syndrome is caused by a dominant variant in the CHD7 gene.
Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.
van Ravenswaaij-Arts et al., Groningen, Netherlands. In Trends Genet, Oct 2015
Dominant loss-of-function mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7), which is an ATP-dependent chromatin remodeller, have been identified as the cause of CHARGE syndrome.
Inappropriate p53 activation during development induces features of CHARGE syndrome.
Attardi et al., Stanford, United States. In Nature, 2014
Despite 70-90% of CHARGE syndrome cases resulting from mutations in the gene CHD7, which encodes an ATP-dependent chromatin remodeller, the pathways underlying the diverse phenotypes remain poorly understood.
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Choi et al., Seoul, South Korea. In Korean J Audiol, 2014
The most frequent causative gene of Korean sporadic severe to profound hearing loss families was SLC26A4 followed by GJB2, CHD7, and CDH23.
Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.
Beckers et al., Liège, Belgium. In Front Endocrinol (lausanne), 2013
KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration.
CHD7 in charge of neurogenesis.
Roberts et al., Boston, United States. In Cell Stem Cell, 2013
(2013) report that the gene mutated in human CHARGE syndrome, ATP-dependent chromatin remodeling factor CHD7, contributes to the control of neurogenesis.
The chromatin remodeler CHD7 regulates adult neurogenesis via activation of SoxC transcription factors.
Liu et al., Heidelberg, Germany. In Cell Stem Cell, 2013
Here, we demonstrate that the chromatin remodeler chromodomain-helicase-DNA-binding protein 7 (CHD7), a protein frequently mutated in human CHARGE syndrome, is a master regulator of neurogenesis in mammalian brain.
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Morton et al., Boston, United States. In N Engl J Med, 2013
Using a 13-day sequence and analysis pipeline, we discovered direct disruption of CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atresia of the choanae, retardation, and genital and ear anomalies).
Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L.
Nakayama et al., Fukuoka, Japan. In Genes Cells, 2012
The results indicate that CHD7S functions cooperatively or antagonistically with CHD7L in the nucleolus and nucleoplasm, respectively.
The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.
van Ravenswaaij-Arts et al., Groningen, Netherlands. In J Clin Endocrinol Metab, 2012
We identified three heterozygous CHD7 mutations in patients with Kallmann syndrome. The CHD7-positive patients were carefully reexamined and were all found to have additional features of CHARGE syndrome.
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
Kohlhase et al., Göttingen, Germany. In Clin Genet, 2012
De novo CHD7 mutations associated with CHARGE syndrome occur predominantly in the male germ line.
Ophthalmic features of CHARGE syndrome with CHD7 mutations.
Kosaki et al., Tokyo, Japan. In Am J Med Genet A, 2012
that bilateral large retinochoroidal colobomata represents a typical ophthalmic feature of CHARGE syndrome in patients with confirmed CHD7 mutations
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
Poot et al., Rotterdam, Netherlands. In Nat Genet, 2011
Chd7, a chromatin remodeling ATPase associated with CHARGE syndrome, was identified as a Sox2 transcriptional cofactor.
CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.
Kim et al., South Korea. In Plos One, 2010
analysis of CHD7 mutations and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome
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