Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 6
Results: 17
Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1247, doi. 10.1093/hmg/ddw007
- By:
- Publication type:
- Article
Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1233, doi. 10.1093/hmg/ddw004
- By:
- Publication type:
- Article
Fine mapping the MHC region identified four independent variants modifying susceptibility to chronic hepatitis B in Han Chinese.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1225, doi. 10.1093/hmg/ddw003
- By:
- Publication type:
- Article
Genome-wide meta-analyses identify novel loci associated with n-3 and n-6 polyunsaturated fatty acid levels in Chinese and European-ancestry populations.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1215, doi. 10.1093/hmg/ddw002
- By:
- Publication type:
- Article
Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1203, doi. 10.1093/hmg/ddv492
- By:
- Publication type:
- Article
Genetic overexpression of Serpina3n attenuates muscular dystrophy in mice.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1192, doi. 10.1093/hmg/ddw005
- By:
- Publication type:
- Article
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1176, doi. 10.1093/hmg/ddw001
- By:
- Publication type:
- Article
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1165, doi. 10.1093/hmg/ddv639
- By:
- Publication type:
- Article
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1152, doi. 10.1093/hmg/ddv638
- By:
- Publication type:
- Article
Gene network and familial analyses uncover a gene network involving Tbx5/Osr1/Pcsk6 interaction in the second heart field for atrial septation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1140, doi. 10.1093/hmg/ddv636
- By:
- Publication type:
- Article
Nf1<sup>+/-</sup> monocytes/macrophages induce neointima formation via CCR2 activation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1129, doi. 10.1093/hmg/ddv635
- By:
- Publication type:
- Article
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1116, doi. 10.1093/hmg/ddv634
- By:
- Publication type:
- Article
α-Synuclein interferes with the ESCRT-III complex contributing to the pathogenesis of Lewy body disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1100, doi. 10.1093/hmg/ddv633
- By:
- Publication type:
- Article
Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1088, doi. 10.1093/hmg/ddv632
- By:
- Publication type:
- Article
Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1074, doi. 10.1093/hmg/ddv631
- By:
- Publication type:
- Article
Wnt4 coordinates directional cell migration and extension of the Müllerian duct essential for ontogenesis of the female reproductive tract.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1059, doi. 10.1093/hmg/ddv621
- By:
- Publication type:
- Article
AMPK activation protects from neuronal dysfunction and vulnerability across nematode, cellular and mouse models of Huntington's disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1043, doi. 10.1093/hmg/ddv513
- By:
- Publication type:
- Article