Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. - sprookjes - yvandenbroek - TriplyDB

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

http://www.wikidata.org/entity/Q34050919

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Nuclear receptor coregulators: modulators of pathology and therapeutic targets Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states Of mice and men: molecular genetics of congenital heart disease Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches A role for histone deacetylases in the cellular and behavioral mechanisms underlying learning and memory Aberrant Expression of Histone Deacetylases 4 in Cognitive Disorders: Molecular Mechanisms and a Potential Target Advances in Skeletal Dysplasia Genetics Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.METTL23, a transcriptional partner of GABPA, is essential for human cognition.From neural development to cognition: unexpected roles for chromatin.Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.HDAC4: mechanism of regulation and biological functions Histone deacetylase-4 is required during early cranial neural crest development for generation of the zebrafish palatal skeleton Epigenetic memory: the Lamarckian brain DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways.Deficiency of the chromatin regulator BRPF1 causes abnormal brain development.Regulation of neuronal gene expression and survival by basal NMDA receptor activity: a role for histone deacetylase 4.On the spot: very local chromosomal rearrangements.Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes Epigenetic regulation in neural crest development.Proteomics analysis of human obesity reveals the epigenetic factor HDAC4 as a potential target for obesity A hormone-dependent module regulating energy balance.TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.Hdac-mediated control of endochondral and intramembranous ossification Novel Histone Deacetylase Class IIa Selective Substrate Radiotracers for PET Imaging of Epigenetic Regulation in the Brain.Histone Deacetylases in Bone Development and Skeletal Disorders.Parathyroid hormone-related protein: an update.Fine mapping of bone structure and strength QTLs in heterogeneous stock rat.An essential role for histone deacetylase 4 in synaptic plasticity and memory formation Chromatin deregulation in disease.Late breaking chromosomes.Reflections on the Field of Human Genetics: A Call for Increased Disease Genetics Theory Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

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P2860

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

http://www.wikidata.org/entity/Q34050919

description

2010 nî lūn-bûn

@nan

2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի օգոստոսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Haploinsufficiency of HDAC4 ca ...... lays, and behavioral problems.

@ast

Haploinsufficiency of HDAC4 ca ...... lays, and behavioral problems.

@en

Haploinsufficiency of HDAC4 ca ...... lays, and behavioral problems.

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type

label

Haploinsufficiency of HDAC4 ca ...... lays, and behavioral problems.

@ast

Haploinsufficiency of HDAC4 ca ...... lays, and behavioral problems.

@en

Haploinsufficiency of HDAC4 ca ...... lays, and behavioral problems.

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prefLabel

Haploinsufficiency of HDAC4 ca ...... lays, and behavioral problems.

@ast

Haploinsufficiency of HDAC4 ca ...... lays, and behavioral problems.

@en

Haploinsufficiency of HDAC4 ca ...... lays, and behavioral problems.

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Haploinsufficiency of HDAC4 ca ...... lays, and behavioral problems.

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D Ross McLeod

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Fahed Halal

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Gordon Gowans

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Helga V Toriello

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Micheala A Aldred

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R Ellen Magenis

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P2860

Three proteins define a class of human histone deacetylases related to yeast Hda1p

Enzymatic activity associated with class II HDACs is dependent on a multiprotein complex containing HDAC3 and SMRT/N-CoR

The transcription factor MEF2C mediates cardiomyocyte hypertrophy induced by IGF-1 signaling

HDAC4 regulates neuronal survival in normal and diseased retinas

Strong association of de novo copy number mutations with autism

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder

MEF2: a calcium-dependent regulator of cell division, differentiation and death

Class II histone deacetylases act as signal-responsive repressors of cardiac hypertrophy

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene

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