Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 25
Results: 22
Analysis of the ABCA4 genomic locus in Stargardt disease.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu396
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- Article
Deactivation of TBP contributes to SCA17 pathogenesis.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu410
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- Article
An ALS-mutant TDP-43 neurotoxic peptide adopts an anti-parallel β-structure and induces TDP-43 redistribution.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu409
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- Article
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu408
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- Article
LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu395
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- Article
Myofiber-specific inhibition of TGFβ signaling protects skeletal muscle from injury and dystrophic disease in mice.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu413
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- Article
Absence of ALOX5 gene prevents stress-induced memory deficits, synaptic dysfunction and tauopathy in a mouse model of Alzheimer's disease.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu412
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FTO genetic variants, dietary intake and body mass index: insights from 177 330 individuals.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu411
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- Article
Mutant cohesin drives chromosomal instability in early colorectal adenomas.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu394
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- Article
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu407
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Rare mutations associating with serum creatinine and chronic kidney disease.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu399
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Non-canonical Wnt5a/Ror2 signaling regulates kidney morphogenesis by controlling intermediate mesoderm extension.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu397
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- Article
p19-INK4d inhibits neuroblastoma cell growth, induces differentiation and is hypermethylated and downregulated in MYCN-amplified neuroblastomas.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu406
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- Article
Trans-ethnic meta-analysis of white blood cell phenotypes.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu401
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Global and disease-associated genetic variation in the human Fanconi anemia gene family.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu400
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- Article
Functional screening in Drosophila reveals the conserved role of REEP1 in promoting stress resistance and preventing the formation of Tau aggregates.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu393
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- Article
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu392
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- Article
The small GTPase Rab11 co-localizes with α-synuclein in intracellular inclusions and modulates its aggregation, secretion and toxicity.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu391
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- Article
Excess SMAD signaling contributes to heart and muscle dysfunction in muscular dystrophy.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu390
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- Article
Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC activation.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu389
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- Article
Phosphorylation within the cysteine-rich region of dystrophin enhances its association with β-dystroglycan and identifies a potential novel therapeutic target for skeletal muscle wasting.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu388
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Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu387
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- Article