Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders. - Wikidata - awgldk - TriplyDB

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.

http://www.wikidata.org/entity/Q36436834

about

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment ISWI and CHD chromatin remodelers bind promoters but act in gene bodies Single-molecule decoding of combinatorially modified nucleosomes De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms The ATP-dependent chromatin remodeling enzymes CHD6, CHD7, and CHD8 exhibit distinct nucleosome binding and remodeling activities.Transcriptional regulation by trithorax-group proteins Epigenetic Developmental Disorders: CHARGE syndrome, a case study Architects of the genome: CHD dysfunction in cancer, developmental disorders and neurological syndromes Chromatin deregulation in disease.Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination The trithorax group proteins Kismet and ASH1 promote H3K36 dimethylation to counteract Polycomb group repression in Drosophila Different CHD chromatin remodelers are required for expression of distinct gene sets and specific stages during development of Dictyostelium discoideum.CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome.CHD7 interacts with BMP R-SMADs to epigenetically regulate cardiogenesis in mice The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme.Regulation of nucleosome positioning by a CHD Type III chromatin remodeler and its relationship to developmental gene expression in Dictyostelium Nucleosome sliding mechanisms: new twists in a looped history.Proteolytic clipping of histone tails: the emerging role of histone proteases in regulation of various biological processes.Rescue of neural crest-derived phenotypes in a zebrafish CHARGE model by Sox10 downregulation.CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.EcR recruits dMi-2 and increases efficiency of dMi-2-mediated remodelling to constrain transcription of hormone-regulated genes.The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization.Genotranscriptomic meta-analysis of the CHD family chromatin remodelers in human cancers - initial evidence of an oncogenic role for CHD7.Versatile Roles of the Chromatin Remodeler CHD7 during Brain Development and Disease.CHARGEd with neural crest defects.Polycomb and Trithorax Group Genes in Drosophila.Identification and in silico structural analysis of Gallus gallus protein arginine methyltransferase 4 (PRMT4).Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.Reproductive endocrine phenotypes relating to CHD7 mutations in humans.Genotype-phenotype correlations in individuals with pathogenic RERE variants.Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development.Tumour-associated missense mutations in the dMi-2 ATPase alters nucleosome remodelling properties in a mutation-specific manner.

P2860

Q24602558-CC639AEE-035E-4AAF-93F6-F60BE630D063 Q26786457-BBFA8090-4040-4E38-B146-0481B7FE5594 Q26822979-CA84FBBB-4055-4A66-B218-926300D651CC Q27332274-734EE489-758F-4429-957B-7C3F3AF821D9 Q27931272-33982DD2-DF3D-4F69-A528-86F56419F631 Q28830526-6BD4861F-949D-4C3F-84BF-7815D7C1D8ED Q29147465-268F9CB8-FCB6-40DB-9E52-DD593EBDCE32 Q33907425-3ED42A80-1B73-45E6-9C03-0508B7B6C254 Q34248098-373C9864-B841-4321-B3BF-011EA07D1214 Q34463003-281FADC4-D34E-4776-AE8E-8DDA9AABB1E9 Q34520690-85C25DF1-886D-4605-A18E-11EF122AE173 Q36599581-CDF8338C-2CAC-477A-8DFA-BD29E8A71038 Q36623495-F3782B45-2B6F-4A12-9AA4-96689B180CF2 Q36840018-954E6C62-F4B4-421D-87E9-2B5BDEB88A8E Q37209149-48313FD8-9428-4CDB-AAAB-C64899F2F51B Q37358729-65E89A54-DE08-4666-AA99-8434897D1DB7 Q37406443-61DD0264-DD2D-4125-BFF4-3F66E3CFDE35 Q37649103-BB359934-38B1-4153-8106-14756E7E6B8C Q37672096-DF2D1BC4-981A-4AEC-8F29-B6BC51D9AF77 Q37719291-BB3ADD13-A0ED-4DCF-ABE8-F43B13131875 Q37735511-811060F5-0584-448F-9306-849A5A3A6316 Q38134612-8B6D9078-52BB-4EF2-A8C6-E0050FAECD5C Q38182451-BABB2015-B2AA-4031-8C08-15739F037B18 Q38291699-EB2F7A82-3FBE-493A-A4E2-E7EE6884A8CA Q38704694-F09374E2-D736-4982-9F7B-29EAA3FF6284 Q38840545-0EA55385-38A4-4A05-945C-A9FD3A309AF3 Q40257427-263ECDD0-CE6C-4507-B5D0-0150A5FBD160 Q41897764-4362B42C-7B5B-4960-B7A4-1D7A9F8426B1 Q42288449-FCCC1F9A-862C-4BBB-9EE8-B4678776C8F9 Q42369167-329353D4-1D7C-4F26-8064-0223C116426D Q46054331-04508CBF-3AEC-4E95-9257-DE76931E94EF Q46253902-9975BECA-C89F-48C6-B1F7-E1A583E378E8 Q47097917-355C9128-52C8-4CA4-8799-5AC12FA96E79 Q47222829-8CBD1925-3053-4CF5-BAA4-B51A99311177 Q47387884-C70FF7A0-581D-49F6-95FE-87D15F3C1BDE Q47866259-C3542764-030A-42D1-AD20-CB2E4F27C3CA Q48106045-393F7CB4-624A-4F8F-80CD-58A768F5E966 Q48248088-B38AD3EF-0893-4D48-8F66-7EC077319829 Q50422411-79133881-81A2-4B75-9960-235C59041DD4 Q54957021-4921D2BA-7464-406B-A76C-DAE9499159ED

P2860

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.

http://www.wikidata.org/entity/Q36436834

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年学术文章

@wuu

2012年学术文章

@zh-cn

2012年学术文章

@zh-hans

2012年学术文章

@zh-my

2012年学术文章

@zh-sg

2012年學術文章

@yue

2012年學術文章

@zh

2012年學術文章

@zh-hant

name

Chromatin remodeling by the CH ...... human developmental disorders.

@ast

Chromatin remodeling by the CH ...... human developmental disorders.

@en

type

label

Chromatin remodeling by the CH ...... human developmental disorders.

@ast

Chromatin remodeling by the CH ...... human developmental disorders.

@en

prefLabel

Chromatin remodeling by the CH ...... human developmental disorders.

@ast

Chromatin remodeling by the CH ...... human developmental disorders.

@en

P1433

Q36436834-490291A8-C0B8-489D-86BB-398A9461511C

P1476

Q36436834-FCF02655-6BED-45B4-8E76-08B27CD500B3

P2093

Q36436834-5D46936B-E977-4A61-A331-56ECDEF7660C

Q36436834-A9528F54-DE46-4B3B-89D7-D870699A3D47

P2860

Q36436834-04F150C4-DFC3-46A7-B33E-670E668E6B75

Q36436834-0F5BBABA-9FDF-4F46-AD31-3D09B90C584C

Q36436834-14E01B38-8C94-44CA-B008-67F521A07681

Q36436834-16A55611-E494-49D5-9CF0-DB55EFFB8EC3

Q36436834-16C09126-F202-4396-9A44-25AC61E5B71B

Q36436834-1A08DD84-5BC5-4038-BA43-6CD955F4E51F

Q36436834-1C826951-AE0E-4710-A806-8ED6710985AC

Q36436834-2204E62C-D548-4DD0-9901-2D57405C16E2

Q36436834-24FA00C1-4D65-41BE-891B-6AAB8F565924

Q36436834-2679BC9B-53B4-4907-84E6-7DE63991D5E8

P304

Q36436834-F29EACA6-BBE3-43A9-AE68-9AE9F982FE67

P31

Q36436834-1AA35CE7-8AE9-4EEC-8FE4-339A042708CA

P356

Q36436834-BB07EC32-5737-4FED-8490-545475FBEB76

P407

Q36436834-FA72D0F1-9DD1-4106-AEAD-39AD383D8FC4

P433

Q36436834-24630DB9-E96C-4AF7-86E6-D82586858D76

P478

Q36436834-16E6D483-451C-44FB-8B8C-3B143AAAF6BB

P577

Q36436834-4990098A-7766-42A5-8166-12177D1E26EA

P5875

Q36436834-4509E3A8-54D1-456F-B1F5-744229DE6491

P698

Q36436834-1AEC1C2F-F0DD-4492-B273-EDF0E27BCFAC

P932

Q36436834-56B59D2F-CC93-4CAA-BA29-2ABA79B7B7C3

P356

PNAS.1213825109

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

Chromatin remodeling by the CH ...... human developmental disorders.

@en

P2093

Karim Bouazoune

http://www.w3.org/2001/XMLSchema#string

Robert E Kingston

http://www.w3.org/2001/XMLSchema#string

P2860

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes

Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

Mitotic inactivation of a human SWI/SNF chromatin remodeling complex

SMART, a simple modular architecture research tool: identification of signaling domains

A small-cell lung cancer genome with complex signatures of tobacco exposure

CHD7 cooperates with PBAF to control multipotent neural crest formation

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

P304

19238-19243

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1073/PNAS.1213825109

http://www.w3.org/2001/XMLSchema#string

P407

P433

47

http://www.w3.org/2001/XMLSchema#string

P478

109

http://www.w3.org/2001/XMLSchema#string

P577

2012-11-07T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

233328644

http://www.w3.org/2001/XMLSchema#string

P698

23134727

http://www.w3.org/2001/XMLSchema#string

P932

3511097

http://www.w3.org/2001/XMLSchema#string