Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

scientific article

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1086/427563
P3181OpenCitations bibliographic resource ID1165830
P932PMC publication ID1196368
P698PubMed publication ID15586325
P5875ResearchGate publication ID8142294

P50authorJozef GéczQ16230617
Jamel ChellyQ18169920
Hans-Hilger RopersQ20607814
Richard ReinhardtQ61060729
Ben HamelQ88244414
Lars Riff JensenQ89455422
Ulf GurokQ114446572
Steffen LenznerQ114446573
Jean-Pierre FrynsQ28468805
Tjitske KleefstraQ28468806
Hilde Van EschQ28468811
Vera M. KalscheuerQ28468812
Claude MoraineQ28468815
Bettina MoserQ32422682
Andreas JaneckeQ42884028
P2093author name stringGholamali Tariverdian
Andreas Tzschach
Gillian Turner
Marion Amende
Verena Gimmel
P2860cites workA missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardationQ22009561
Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9Q24298477
Characterization of the retinoblastoma binding proteins RBP1 and RBP2Q24319006
High prevalence of SLC6A8 deficiency in X-linked mental retardationQ24533559
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAsQ61040791
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilageQ78850605
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationQ24534092
Gender-specific gene expression in post-mortem human brain: localization to sex chromosomesQ24597085
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationQ28186625
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyQ28206529
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationQ28215614
Rb interacts with histone deacetylase to repress transcriptionQ28263985
The regulation of E2F by pRB-family proteinsQ28278789
Foxg1 suppresses early cortical cell fateQ28588844
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ARID proteins come in from the desertQ33904343
Novel syndromic form of X-linked complicated spastic paraplegiaQ33917456
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in malesQ34144191
Nonsyndromic X-linked mental retardation: where are the missing mutations?Q34205119
A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.Q34324914
ARID proteins: a diverse family of DNA binding proteins implicated in the control of cell growth, differentiation, and development.Q34604947
Nonsense-mediated decay approaches the clinicQ35851264
The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothersQ36622343
The prevalence of mental retardation: a critical review of recent literature.Q41376660
Sex differences in sex chromosome gene expression in mouse brainQ46717400
TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.Q47230045
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?Q51962112
Nonspecific X-linked mental retardation II: the frequency in British Columbia.Q52105786
The mouse Smcx gene exhibits developmental and tissue specific variation in degree of escape from X inactivation.Q52200103
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)227-236
P577publication date2004-12-07
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleMutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
P478volume76