Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 9
Results: 25
The p.Cys169Tyr variant of connexin 26 is not a polymorphism.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2641, doi. 10.1093/hmg/ddv026
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Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2411, doi. 10.1093/hmg/ddv002
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Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2649, doi. 10.1093/hmg/ddv029
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An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2492, doi. 10.1093/hmg/ddv010
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Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2426, doi. 10.1093/hmg/ddv005
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- Article
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2689, doi. 10.1093/hmg/ddv027
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Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2470, doi. 10.1093/hmg/ddv008
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miRNA-558 promotes tumorigenesis and aggressiveness of neuroblastoma cells through activating the transcription of heparanase.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2539, doi. 10.1093/hmg/ddv018
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Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2458, doi. 10.1093/hmg/ddv007
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- Article
The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2578, doi. 10.1093/hmg/ddv021
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Common polymorphisms in WNT10A affect tooth morphology as well as hair shape.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2673, doi. 10.1093/hmg/ddv014
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Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2627, doi. 10.1093/hmg/ddv025
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- Article
FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2552, doi. 10.1093/hmg/ddv019
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Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington's disease.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2508, doi. 10.1093/hmg/ddv016
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Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2700, doi. 10.1093/hmg/ddv028
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- Article
A missense mutation in DCDC2 causeshuman recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2482, doi. 10.1093/hmg/ddv009
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- Article
ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2565, doi. 10.1093/hmg/ddv020
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The mitochondrial protein BNIP3L is the substrate of PARK2 and mediates mitophagy in PINK1/PARK2 pathway.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2528, doi. 10.1093/hmg/ddv017
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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2594, doi. 10.1093/hmg/ddv022
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A systematic investigation of the contribution of genetic variation within the MHC region to HPV seropositivity.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2681, doi. 10.1093/hmg/ddv015
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Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2442, doi. 10.1093/hmg/ddv006
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A Huntingtin-based peptide inhibitor of caspase-6 provides protection from mutant Huntingtin-induced motor and behavioral deficits.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2604, doi. 10.1093/hmg/ddv023
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Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2662, doi. 10.1093/hmg/ddv030
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Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2615, doi. 10.1093/hmg/ddv024
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A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2482, doi. 10.1093/hmg/ddv009
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- Publication type:
- Article