Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 25
Results: 24
Reduced PLP2 expression increases ER-stress-induced neuronal apoptosis and risk for adverse neurological outcomes after hypoxia ischemia injury.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7221, doi. 10.1093/hmg/ddv422
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- Article
Genome-wide genetic homogeneity between sexes and populations for human height and body mass index.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7445, doi. 10.1093/hmg/ddv443
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- Article
An insoluble frontotemporal lobar degeneration-associated TDP-43 C-terminal fragment causes neurodegeneration and hippocampus pathology in transgenic mice.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7241, doi. 10.1093/hmg/ddv424
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- Article
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7361, doi. 10.1093/hmg/ddv437
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- Article
Methylation quantitative trait locus analysis of osteoarthritis links epigenetics with genetic risk.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7432, doi. 10.1093/hmg/ddv433
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- Article
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7159, doi. 10.1093/hmg/ddv384
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- Article
Identification of shared and unique susceptibility pathways among cancers of the lung, breast, and prostate from genome-wide association studies and issue-specific protein interactions.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7406, doi. 10.1093/hmg/ddv440
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- Article
A role for Kalirin-7 in corticostriatal synaptic dysfunction in Huntington's disease.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7265, doi. 10.1093/hmg/ddv426
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- Article
Regulation of SPRY3 by X chromosome and PAR2-linked promoters n an autism susceptibility region.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7450, doi. 10.1093/hmg/ddv448
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- Article
Delayed pubertal onset and prepubertal Kiss1 expression in female mice lacking central oestrogen receptor beta.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7326, doi. 10.1093/hmg/ddv430
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PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7227, doi. 10.1093/hmg/ddv423
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- Article
Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7349, doi. 10.1093/hmg/ddv435
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- Article
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7339, doi. 10.1093/hmg/ddv431
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- Article
α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7295, doi. 10.1093/hmg/ddv428
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- Article
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7171, doi. 10.1093/hmg/ddv414
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- Article
Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7196, doi. 10.1093/hmg/ddv417
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- Article
CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7255, doi. 10.1093/hmg/ddv425
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- Publication type:
- Article
Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7390, doi. 10.1093/hmg/ddv439
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- Article
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7207, doi. 10.1093/hmg/ddv421
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- Article
Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7421, doi. 10.1093/hmg/ddv432
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- Article
Plectin isoform 1-dependent nuclear docking of desmin networks affects myonuclear architecture and expression of mechanotransducers.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7373, doi. 10.1093/hmg/ddv438
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- Article
Mitochondrial division inhibitor 1 protects against mutant huntingtin-induced abnormal mitochondrial dynamics and neuronal damage in Huntington's disease.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7308, doi. 10.1093/hmg/ddv429
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Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal ethylation status or hearing.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7286, doi. 10.1093/hmg/ddv427
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- Article
Huntingtin differentially regulates the axonal transport of a sub-set of Rab-containing vesicles in vivo.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7182, doi. 10.1093/hmg/ddv415
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- Article