Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. - Wikidata - awgldk - TriplyDB

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

http://www.wikidata.org/entity/Q42034899

about

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10 Upregulation of the E3 ligase NEDD4-1 by oxidative stress degrades IGF-1 receptor protein in neurodegeneration Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease Neuronal RNA-binding proteins in health and disease Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy Spinocerebellar ataxia type 36 in the Han Chinese 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.Systems biology analysis of Drosophila in vivo screen data elucidates core networks for DNA damage repair in SCA1.Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects.TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan Brain pathology of spinocerebellar ataxias.Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast.Top-down but not bottom-up visual scanning is affected in hereditary pure cerebellar ataxia.Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31.Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.Quantitative evaluation of human cerebellum-dependent motor learning through prism adaptation of hand-reaching movement.TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy.The 3-second rule in hereditary pure cerebellar ataxia: a synchronized tapping study.SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia The Repeat Expansion Diseases: The dark side of DNA repair.RNA imaging in living cells - methods and applications.A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult Neurodegeneration the RNA way RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy.Distinct roles for Toll and autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases.Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia.RNA pathogenesis via Toll-like receptor-activated inflammation in expanded repeat neurodegenerative diseases.RNA-mediated toxicity in neurodegenerative disease Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Mechanisms of toxicity in C9FTLD/ALS.Developments in RNA splicing and disease.Nucleolar aggresomes as counterparts of cytoplasmic aggresomes in proteotoxic stress. Proteasome inhibitors induce nuclear ribonucleoprotein inclusions that accumulate several key factors of neurodegenerative diseases and cancer.

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P2860

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

http://www.wikidata.org/entity/Q42034899

description

2009 nî lūn-bûn

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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2009年论文

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2009年论文

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name

Spinocerebellar ataxia type 31 ...... e repeats containing (TGGAA)n.

@en

Spinocerebellar ataxia type 31 ...... -nucleotide repeats containing

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type

label

Spinocerebellar ataxia type 31 ...... e repeats containing (TGGAA)n.

@en

Spinocerebellar ataxia type 31 ...... -nucleotide repeats containing

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prefLabel

Spinocerebellar ataxia type 31 ...... e repeats containing (TGGAA)n.

@en

Spinocerebellar ataxia type 31 ...... -nucleotide repeats containing

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J.AJHG.2009.09.019

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American Journal of Human Genetics

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Spinocerebellar ataxia type 31 ...... e repeats containing (TGGAA)n.

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Fumitoshi Ishino

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Hidehiro Mizusawa

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Kazuhiro Kobayashi

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Kinya Ishikawa

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Makoto Takahashi

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Mari Yoshida

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Nobuyoshi Shimizu

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Sawa Iwasaki

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Shigeo Murayama

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Shoji Tsuji

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P2860

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom

Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts

Human sat III and Drosophila hsr omega transcripts: a common paradigm for regulation of nuclear RNA processing in stressed cells

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1

The DNA sequence of human chromosome 21

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

RNA and disease

Highly conserved repetitive DNA sequences are present at human centromeres.

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Kevin M. Flanigan

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38057195

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