Novel JARID1C/SMCX mutations in patients with X-linked mental retardation - Wikidata - wikimedia - TriplyDB

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

http://www.wikidata.org/entity/Q28302378

about

PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase Structural and Evolutionary Basis for the Dual Substrate Selectivity of Human KDM4 Histone Demethylase Family Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain.Methamphetamine-associated memory is regulated by a writer and an eraser of permissive histone methylation.A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.PHD fingers: epigenetic effectors and potential drug targets The JmjN domain of Jhd2 is important for its protein stability, and the plant homeodomain (PHD) finger mediates its chromatin association independent of H3K4 methylation Proliferating cell nuclear antigen is required for loading of the SMCX/KMD5C histone demethylase onto chromatin.Chromatin and oxygen sensing in the context of JmjC histone demethylases The genetic basis of non-syndromic intellectual disability: a review Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation The hidden genetics of epilepsy-a clinically important new paradigm.Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.Reversible histone methylation regulates brain gene expression and behavior.Epigenetic Regulation by Lysine Demethylase 5 (KDM5) Enzymes in Cancer.Epigenetic gene regulation in the adult mammalian brain: multiple roles in memory formation.Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.A cell-permeable ester derivative of the JmjC histone demethylase inhibitor IOX1 Epileptogenesis: can the science of epigenetics give us answers?Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease.Histone demethylases and cancer.NRSF and BDNF polymorphisms as biomarkers of cognitive dysfunction in adults with newly diagnosed epilepsy Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.Chromatin-bound RNA and the neurobiology of psychiatric disease.The histone demethylase Dmel\Kdm4A controls genes required for life span and male-specific sex determination in Drosophila.Epigenetic mechanisms underlying human epileptic disorders and the process of epileptogenesis.Physiological roles of class I HDAC complex and histone demethylase.Epigenetic treatments for cognitive impairments Role of H3K4 demethylases in complex neurodevelopmental diseases.Histone methylation in the nervous system: functions and dysfunctions.Histone lysine demethylases as targets for anticancer therapy.Jumonji family histone demethylases in neural development.Histone H3K4 trimethylation: dynamic interplay with pre-mRNA splicing.Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.A Drosophila Model of Intellectual Disability Caused by Mutations in the Histone Demethylase KDM5.Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.

P2860

Q24309265-21C7A601-2BDA-4D1C-9457-A85A42B895BA Q27673793-FE30CBBB-764E-4124-9B53-68F30BFBCB58 Q29617086-59EF3BA8-A40D-4F7E-8BE9-A41C518A65C7 Q33348587-EDCBD1E8-598A-4FBA-A2E4-1F4AEAB0624C Q33624077-D58E39D7-E2E8-47B9-8084-F3B6CA65F6FB Q33698314-FDAE4933-8A4C-4F5F-AA73-576042CAFC1A Q33819263-7FD18421-201E-4CB7-B1D4-29DA348F49B2 Q34042577-87F50BA8-FB62-43CD-A218-F0633C278507 Q34047729-60760723-330F-4E5A-B966-7FD566786EBD Q34103385-0C46B59B-D1B7-419C-B06E-C19F10C01C2E Q34283901-E66D8C52-36FC-42D6-B687-7E9086F8D075 Q34328652-B7ABB394-CFA8-4C9C-A2DB-1B7A9E8CFA2F Q34415194-EACD1CDF-F4C1-4C76-AA9B-549BEE06E730 Q34565537-688D4BED-DE9A-4686-8509-C816E7414532 Q34879560-7437366A-D2A7-4FE0-AFE6-7A796476F46C Q34897761-26FC7C07-E604-4E20-A479-0756FCE2FA07 Q35036368-63C78873-9D35-40C9-8E4E-BD300ABFCF64 Q35849485-2C006023-6925-40B7-AF68-FD76A1705D05 Q35854599-E19C2337-618A-47A3-B307-37D3450BCDAC Q36008878-C8E640AA-8821-45B3-B2BF-34E317B24553 Q36324695-44AED7C5-A0D7-481B-97B3-8F681878DBE8 Q36421138-7950C1F9-155E-4FB4-9AF6-FAF7245C023B Q36520757-5C85F10A-8BBF-48C9-B8A1-D52307BF5AD9 Q36591206-97DE05F7-8FD2-4C61-BAD5-C5430DE0233E Q37013268-F68D5859-21DF-4CC7-A466-F6B3C67C1F1C Q37351175-1D677A62-9061-43BC-884B-E37343979288 Q37480775-9E356B66-71B5-437B-887E-042C393828CE Q37699484-B837B084-7A50-462D-AC49-66314CC8B860 Q37806964-D386BD95-BD4E-457D-B873-F3290068A94E Q37877119-B4A7C610-E13C-4EB6-9274-22879B6163AE Q37961732-F132F1C5-6658-4D61-9E48-286B1B985D66 Q38060650-8AF07570-8D32-445A-A7E7-E1808E1F0A99 Q38162717-87F68B80-85ED-4412-A645-08F1E40270D9 Q38221959-FA391A56-E033-4653-9602-15B96BCD6872 Q38583533-6F55D53E-B674-426F-82CC-E133321F271F Q38757954-667CE02E-4D3A-42A4-957A-55CFF5412393 Q42658858-06C92629-F77B-46E2-A2F7-584266A6A322 Q50421548-C8B7A914-4112-41DD-A704-60476CC9AE65 Q52579275-FDFBBCA1-A698-4666-A1ED-5C1CF53757B9 Q55022100-0884BA6A-F1C5-4A99-A51B-9383FF6A2ADF

P2860

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

http://www.wikidata.org/entity/Q28302378

description

2006 nî lūn-bûn

@nan

2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2006年の論文

@ja

2006年論文

@yue

2006年論文

@zh-hant

2006年論文

@zh-hk

2006年論文

@zh-mo

2006年論文

@zh-tw

2006年论文

@wuu

name

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

@ast

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

@en

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

@nl

type

label

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

@ast

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

@en

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

@nl

prefLabel

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

@ast

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

@en

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

@nl

P1433

Q28302378-BBFC66A1-D777-4259-844C-5CBDBC146ECE

P1476

Q28302378-7DCCF429-B6C1-4944-A742-47EFCD0BB5FC

P2093

Q28302378-00EAC8B0-C9C1-47FA-AE03-E605C76E4786

Q28302378-39F65D30-B025-41FF-98FA-58BBAD341A3C

Q28302378-3E727CFE-8B73-4851-8FB5-0EF9AF941308

Q28302378-87033ED9-D709-4CA2-B6A7-374FF89EDDBC

Q28302378-FC456993-E7ED-44BA-8487-A8D522F78563

P304

Q28302378-FE7AAF78-EFF0-4CC4-9725-52A30BE19FCC

P31

Q28302378-4C094B75-03F9-4EA2-AC55-C41CD17F8C03

P356

Q28302378-A75C3E2C-ADAC-4434-A2B0-074BFDC268C9

P407

Q28302378-7D1B216B-1689-42C0-B380-F7B5C2E8DC2E

P433

Q28302378-9270D605-F558-4B91-99CF-6AB1EC4E4189

P478

Q28302378-BD6ACA3A-C59A-4A77-9E98-8D894A3BD67A

P50

Q28302378-031FC720-59EB-4649-B84F-A802FDA1F905

Q28302378-2D3FC138-D1C9-4E5F-9E4F-7E8C386494FA

Q28302378-8F142C2F-CC4C-4AB3-9046-1D48E359629B

Q28302378-91B433C8-1494-4FBA-9A86-12A1E00D65FD

Q28302378-925BEE68-21BF-4D5C-9A12-0E4C415C57B2

Q28302378-980E90F4-BFD0-4ACC-BA88-795689CB308A

Q28302378-D0EE31D2-4736-4D8B-AC8C-57FE933E5A4E

P577

Q28302378-7B571667-4C25-4B02-A4FC-E37BFA4D8AE7

P5875

Q28302378-C5736116-495C-4FEF-8D46-A8948FEAAAAC

P698

Q28302378-71E9527C-75A9-4229-B719-E17C62F2A143

P356

P1433

P1476

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

@en

P2093

Andreas Kuss

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

Gillian Turner

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

Lars Riff Jensen

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

Richard Reinhardt

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

Steffen Lenzner

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

P304

389

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

P31

scholarly article

P356

10.1002/HUMU.9420

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

P407

P433

4

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

P478

27

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

P50

Hans-Hilger Ropers

Jean-Pierre Fryns

Tjitske Kleefstra

Martine Raynaud

Andreas Tzschach

P577

2006-04-01T00:00:00Z

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

P5875

7238062

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

P698

16541399

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