Works in Human Molecular Genetics, 2014, Vol 23, Issue 6
Results: 27
CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1669
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- Article
Absence of cell surface expression of human ACE leads to perinatal death.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1479, doi. 10.1093/hmg/ddt535
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SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1619, doi. 10.1093/hmg/ddt552
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Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1656
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- Article
Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1399, doi. 10.1093/hmg/ddt526
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Cover Page.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. NP, doi. 10.1093/hmg/ddu083
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- Article
Major epigenetic development distinguishing neuronal and non-neuronal cells occurs postnatally in the murine hypothalamus.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1579, doi. 10.1093/hmg/ddt548
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The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1425
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Subscription Page.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. NP, doi. 10.1093/hmg/ddu085
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- Article
SIRT2 regulates ciliogenesis and contributes to abnormal centrosome amplification caused by loss of polycystin-1.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1644, doi. 10.1093/hmg/ddt556
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Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1516, doi. 10.1093/hmg/ddt538
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Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1413, doi. 10.1093/hmg/ddt528
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Dual-tagged amyloid-β precursor protein reveals distinct transport pathways of its N- and C-terminal fragments.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1631, doi. 10.1093/hmg/ddt555
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Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1467, doi. 10.1093/hmg/ddt534
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- Article
Distinct roles of TRAF6 at early and late stages of muscle pathology in the mdx model of Duchenne muscular dystrophy.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1492, doi. 10.1093/hmg/ddt536
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New Lmna knock-in mice provide a molecular mechanism for the ‘segmental aging’ in Hutchinson–Gilford progeria syndrome†.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1506, doi. 10.1093/hmg/ddt537
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Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1453, doi. 10.1093/hmg/ddt533
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- Article
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1538, doi. 10.1093/hmg/ddt541
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Contents Page.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. NP, doi. 10.1093/hmg/ddu082
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- Article
Editorial Board.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. NP, doi. 10.1093/hmg/ddu084
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- Article
FOXO3 determines the accumulation of α-synuclein and controls the fate of dopaminergic neurons in the substantia nigra.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1435, doi. 10.1093/hmg/ddt530
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Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1606, doi. 10.1093/hmg/ddt551
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Methionine sulfoxide reductase B3 deficiency causes hearing loss due to stereocilia degeneration and apoptotic cell death in cochlear hair cells.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1591, doi. 10.1093/hmg/ddt549
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A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1602
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High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1551, doi. 10.1093/hmg/ddt542
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Inferring primary tumor sites from mutation spectra: a meta-analysis of histology-specific aberrations in cancer-derived cell lines.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1527, doi. 10.1093/hmg/ddt539
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Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1563, doi. 10.1093/hmg/ddt547
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