Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 23
Results: 24
The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5019, doi. 10.1093/hmg/dds343
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. NP, doi. 10.1093/hmg/dds462
- Publication type:
- Article
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5106, doi. 10.1093/hmg/dds356
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- Article
Can genetic associations change with age? CFH and age-related macular degeneration.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5229, doi. 10.1093/hmg/dds364
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- Article
Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5222, doi. 10.1093/hmg/dds361
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- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. NP, doi. 10.1093/hmg/dds453
- Publication type:
- Article
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5039, doi. 10.1093/hmg/dds348
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- Publication type:
- Article
IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5078, doi. 10.1093/hmg/dds354
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- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. NP, doi. 10.1093/hmg/dds456
- Publication type:
- Article
ETS1 regulates the expression of ATXN2.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5048, doi. 10.1093/hmg/dds349
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. NP, doi. 10.1093/hmg/dds459
- Publication type:
- Article
Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5185
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- Article
Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5238, doi. 10.1093/hmg/dds366
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- Publication type:
- Article
Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5193, doi. 10.1093/hmg/dds347
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- Publication type:
- Article
A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5066, doi. 10.1093/hmg/dds350
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- Publication type:
- Article
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5174, doi. 10.1093/hmg/dds368
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- Publication type:
- Article
Seven newly identified loci for autoimmune thyroid disease.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5202
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- Publication type:
- Article
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5209, doi. 10.1093/hmg/dds359
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- Publication type:
- Article
Abnormal interaction of VDAC1 with amyloid beta and phosphorylated tau causes mitochondrial dysfunction in Alzheimer's disease.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5131, doi. 10.1093/hmg/dds360
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- Publication type:
- Article
Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5159, doi. 10.1093/hmg/dds367
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- Publication type:
- Article
Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5091, doi. 10.1093/hmg/dds355
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- Publication type:
- Article
PDGF-B-mediated downregulation of miR-21: new insights into PDGF signaling in glioblastoma.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5118, doi. 10.1093/hmg/dds358
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- Publication type:
- Article
α-Synuclein levels modulate Huntington's disease in mice.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5237, doi. 10.1093/hmg/dds351
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- Publication type:
- Article
Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5147, doi. 10.1093/hmg/dds365
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- Publication type:
- Article