Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 2
Results: 27
Mutation of SLC9A1, encoding the major Na1/H1 exchanger, causes ataxia–deafness Lichtenstein–Knorr syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 463, doi. 10.1093/hmg/ddu461
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Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 424, doi. 10.1093/hmg/ddu458
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Comprehensive phosphoproteome analysis unravels the core signaling network that initiates the earliest synapse pathology in preclinical Alzheimer’s disease brain.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 540, doi. 10.1093/hmg/ddu475
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Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 525, doi. 10.1093/hmg/ddu472
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A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 516, doi. 10.1093/hmg/ddu471
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Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 436, doi. 10.1093/hmg/ddu459
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The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 471, doi. 10.1093/hmg/ddu462
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Systematic annotation of celiac disease loci refines pathological pathways and suggests a genetic explanation for increased interferon-gamma levels.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 397, doi. 10.1093/hmg/ddu453
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Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 299, doi. 10.1093/hmg/ddu444
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Pioglitazone suppresses neuronal and muscular degeneration caused by polyglutamine-expanded androgen receptors.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 314, doi. 10.1093/hmg/ddu445
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A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 361, doi. 10.1093/hmg/ddu448
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The Drosophila Huntington’s disease gene ortholog dhtt influences chromatin regulation during development.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 330, doi. 10.1093/hmg/ddu446
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Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 572, doi. 10.1093/hmg/ddu454
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DNA methylation analysis of human myoblasts during in vitro myogenic differentiation: de novo methylation of promoters of muscle-related genes and its involvement in transcriptional down-regulation.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 410, doi. 10.1093/hmg/ddu457
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Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 559, doi. 10.1093/hmg/ddu450
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- Article
Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 346, doi. 10.1093/hmg/ddu447
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- Article
Loss of nNOS inhibits compensatory muscle hypertrophy and exacerbates inflammation and eccentric contraction-induced damage in mdx mice.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 492, doi. 10.1093/hmg/ddu469
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- Article
Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 480, doi. 10.1093/hmg/ddu46
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- Article
A huntingtin-mediated fast stress response halting endosomal trafficking is defective in Huntington’s disease.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 450, doi. 10.1093/hmg/ddu460
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The IRF5–TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 582, doi. 10.1093/hmg/ddu455
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Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 506, doi. 10.1093/hmg/ddu470
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Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 383, doi. 10.1093/hmg/ddu451
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The adipocyte differentiation protein APMAP is an endogenous suppressor of Aβ production in the brain.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 371, doi. 10.1093/hmg/ddu449
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Editorial Board.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. NP, doi. 10.1093/hmg/ddu681
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- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 2, p. NP, doi. 10.1093/hmg/ddu629
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 2, p. NP, doi. 10.1093/hmg/ddu707
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- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 2, p. NP, doi. 10.1093/hmg/ddu655
- Publication type:
- Article