Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. - Wikidata - awgldk - TriplyDB

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.

http://www.wikidata.org/entity/Q34231877

about

Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1 Pathogenic mechanisms and therapeutic strategies in spinobulbar muscular atrophy Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p Spinal and bulbar muscular atrophy: pathogenesis and clinical management HAP1 can sequester a subset of TBP in cytoplasmic inclusions via specific interaction with the conserved TBP(CORE).CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.Dynamic mutations on the move.Gametic but not somatic instability of CAG repeat length in Huntington's disease.Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool.Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.Androgen receptor mutation in Kennedy's disease Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation Correlation of clinical and molecular features in spinal bulbar muscular atrophy.Animal models of Kennedy disease.Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy Triplet repeat expansion in neuromuscular disease.Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA.The androgen receptor gene and its influence on the development and progression of prostate cancer.The CAG repeat polymorphism in the androgen receptor gene modifies the risk for hypospadias in Caucasians.The Nature, Extent, and Consequences of Genetic Variation in the opa Repeats of Notch in Drosophila.Spinal and Bulbar Muscular Atrophy.Abundant contribution of short tandem repeats to gene expression variation in humans.Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy (SBMA).Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy Clinical features of spinal and bulbar muscular atrophy.The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function.The androgen receptor: structure, mutations, and antiandrogens.The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases.Correlation between CAG repeat length and clinical features in Machado-Joseph disease Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy.Kennedy's disease: pathogenesis and clinical approaches.Neurogenic and myogenic contributions to hereditary motor neuron disease.Polar zippers: their role in human disease.Family, twin, adoption, and molecular genetic studies of juvenile bipolar disorder.

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P2860

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.

http://www.wikidata.org/entity/Q34231877

description

1992 nî lūn-bûn

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1992 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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1992 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1992年の論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年论文

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Meiotic stability and genotype ...... l and bulbar muscular atrophy.

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Meiotic stability and genotype ...... l and bulbar muscular atrophy.

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Meiotic stability and genotype ...... l and bulbar muscular atrophy.

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type

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Meiotic stability and genotype ...... l and bulbar muscular atrophy.

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Meiotic stability and genotype ...... l and bulbar muscular atrophy.

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Meiotic stability and genotype ...... l and bulbar muscular atrophy.

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prefLabel

Meiotic stability and genotype ...... l and bulbar muscular atrophy.

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Meiotic stability and genotype ...... l and bulbar muscular atrophy.

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Meiotic stability and genotype ...... l and bulbar muscular atrophy.

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Nature Genetics

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Meiotic stability and genotype ...... l and bulbar muscular atrophy.

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P2093

Fischbeck KH

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Harding AE

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Hausmanowa-Petrusewicz I

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La Spada AR

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Roling DB

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Spiegel R

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Warner CL

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Yee WC

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P2860

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait.

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.

A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure.

Absence of expression of the FMR-1 gene in fragile X syndrome.

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

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10.1038/NG1292-301

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1992-12-01T00:00:00Z

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1303283

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