A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
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Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingAdvances in understanding - genetic basis of intellectual disabilityX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesAn X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesMammalian Y chromosomes retain widely expressed dosage-sensitive regulatorsThe promise of whole-exome sequencing in medical genetics.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.BOD1 Is Required for Cognitive Function in Humans and Drosophila.Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.Identification of candidate intergenic risk loci in autism spectrum disorder.Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expressionA novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.The necessity for in vivo functional analysis in human medical genetics.Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease.The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.Genetic studies in intellectual disability and related disorders.Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disabilityA non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth.Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.Genetics of intellectual disability in consanguineous families.A functional strategy to characterize expression Quantitative Trait Loci.HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Effects of hypo O-GlcNAcylation on Drosophila development.-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling
P2860
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P2860
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
description
2012 nî lūn-bûn
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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
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2012年學術文章
@zh-hant
name
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
@ast
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
@en
type
label
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
@ast
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
@en
prefLabel
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
@ast
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
@en
P2093
P2860
P50
P1476
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
@en
P2093
Alison Gardner
Andreas Tzschach
Anna Hackett
Dagmar Wieczorek
Evelyn Douglas
Guy Froyen
Hans-Hilger Ropers
Lingli Huang
Mark A Corbett
P2860
P304
P356
10.1016/J.AJHG.2012.08.011
P407
P577
2012-09-20T00:00:00Z