Mutation analysis of UBE3A in Angelman syndrome patients. - Wikidata - wikimedia - TriplyDB

Mutation analysis of UBE3A in Angelman syndrome patients.

Mutation analysis of UBE3A in Angelman syndrome patients.

http://www.wikidata.org/entity/Q34385742

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Angelman syndrome: a review of the clinical and genetic aspects Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling Zn-binding AZUL domain of human ubiquitin protein ligase Ube3A gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.[Genetic and brain structure anomalies in autism spectrum disorders. Towards an understanding of the aetiopathogenesis?].Genetics of Angelman syndrome.Recent advances in the genetics of epilepsy: insights from human and animal studies.Molecular mechanisms for CMT1A duplication and HNPP deletion.Epilepsy genes: the link between molecular dysfunction and pathophysiology.Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation Imprinting-mutation mechanisms in Prader-Willi syndrome Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.The role of epigenetics in personalized medicine: challenges and opportunities.Distinct phenotypes distinguish the molecular classes of Angelman syndrome A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes Noncoding RNAs in mental retardation An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.Molecular and Clinical Aspects of Angelman Syndrome.Understanding the pathogenesis of Angelman syndrome through animal models Genomic imprinting and dermatological disease.A model system to study genomic imprinting of human genes.Prader-Willi syndrome: an update and review for the primary pediatrician.A Drosophila model for Angelman syndrome.The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of Hsp70-bound misfolded proteins.Angelman syndrome (AS, MIM 105830)Clinical and genetic aspects of Angelman syndrome.Angelman syndrome: review of clinical and molecular aspects.Mutation Update for UBE3A variants in Angelman syndrome.Multilocus methylation defects in imprinting disorders.The Antisense Transcriptome and the Human Brain.Clinical significance of the ubiquitin ligase UBE3C in hepatocellular carcinoma revealed by exome sequencing.Role of DNA methylation in imprinting disorders: an updated review.Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome.Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation.Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.Chromosome abnormalities and epilepsy.

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Mutation analysis of UBE3A in Angelman syndrome patients.

http://www.wikidata.org/entity/Q34385742

description

1998 nî lūn-bûn

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1998 թուականի Յունիսին հրատարակուած գիտական յօդուած

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1998 թվականի հունիսին հրատարակված գիտական հոդված

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年论文

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name

Mutation analysis of UBE3A in Angelman syndrome patients.

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Mutation analysis of UBE3A in Angelman syndrome patients.

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Mutation analysis of UBE3A in Angelman syndrome patients.

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Mutation analysis of UBE3A in Angelman syndrome patients.

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Mutation analysis of UBE3A in Angelman syndrome patients.

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Mutation analysis of UBE3A in Angelman syndrome patients.

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Mutation analysis of UBE3A in Angelman syndrome patients.

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Mutation analysis of UBE3A in Angelman syndrome patients.

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Mutation analysis of UBE3A in Angelman syndrome patients.

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American Journal of Human Genetics

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Mutation analysis of UBE3A in Angelman syndrome patients.

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P2093

A Moncla

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C Williams

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H Webber

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J M Graham

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J Wagstaff

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L A Ramsdell

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R A Pagon

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P2860

UBE3A/E6-AP mutations cause Angelman syndrome

A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase

Physical interaction between specific E2 and Hect E3 enzymes determines functional cooperativity

Linkage analysis in familial Angelman syndrome.

Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

Angelman syndrome.

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

Genomic organization of the UBE3A/E6-AP gene and related pseudogenes.

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.

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1353-1360

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10.1086/301877

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