Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 23
Results: 23
Integrative pathway genomics of lung function and airflow obstruction.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6836, doi. 10.1093/hmg/ddv378
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- Article
Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6840, doi. 10.1093/hmg/ddv369
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- Article
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6614, doi. 10.1093/hmg/ddv367
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- Article
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6580, doi. 10.1093/hmg/ddv361
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- Article
Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6849, doi. 10.1093/hmg/ddv379
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- Article
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6769, doi. 10.1093/hmg/ddv382
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- Article
Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6811, doi. 10.1093/hmg/ddv386
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- Article
Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant α-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6675, doi. 10.1093/hmg/ddv372
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- Article
miR-132/212 deficiency impairs tau metabolism and promotes pathological aggregation in vivo.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6721, doi. 10.1093/hmg/ddv377
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- Article
Multi-level omics analysis in a murine model of dystrophin loss and therapeutic restoration.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6756, doi. 10.1093/hmg/ddv381
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- Article
Two novel COLVI long chains in zebrafish that are essential for muscle development.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6624, doi. 10.1093/hmg/ddv368
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- Publication type:
- Article
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6565, doi. 10.1093/hmg/ddv345
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- Publication type:
- Article
A novel mouse model that recapitulates adult-onset glycogenosis type 4.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6801, doi. 10.1093/hmg/ddv385
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- Article
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6603, doi. 10.1093/hmg/ddv366
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- Article
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6711, doi. 10.1093/hmg/ddv376
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- Publication type:
- Article
Overexpression of ATF3 or the combination of ATF3, c-Jun, STAT3 and Smad1 promotes regeneration of the central axon branch of sensory neurons but without synergistic effects.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6788, doi. 10.1093/hmg/ddv383
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- Publication type:
- Article
Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6736, doi. 10.1093/hmg/ddv380
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- Publication type:
- Article
Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6826, doi. 10.1093/hmg/ddv387
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- Article
The Alzheimer's disease risk factor CD2AP maintains blood-brain barrier integrity.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6667, doi. 10.1093/hmg/ddv371
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- Publication type:
- Article
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6588, doi. 10.1093/hmg/ddv363
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- Article
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6699, doi. 10.1093/hmg/ddv374
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- Article
Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leads.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6687, doi. 10.1093/hmg/ddv373
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- Publication type:
- Article
Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6653, doi. 10.1093/hmg/ddv370
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- Publication type:
- Article