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Volume 21, Issue 5, 1 March 2012
Articles
The homocysteine-inducible endoplasmic reticulum (ER) stress protein Herp counteracts mutant α-synuclein-induced ER stress via the homeostatic regulation of ER-resident calcium release channel proteins
Cherine Belal and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 963–977, https://doi.org/10.1093/hmg/ddr502
Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition
Robert W. Gilkerson and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 978–990, https://doi.org/10.1093/hmg/ddr529
Parkin interacts with Klokin1 for mitochondrial import and maintenance of membrane potential
Yukiko Kuroda and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 991–1003, https://doi.org/10.1093/hmg/ddr530
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A
Aurelie Carabalona and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1004–1017, https://doi.org/10.1093/hmg/ddr531
Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion
Matthew J. Hill and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1018–1024, https://doi.org/10.1093/hmg/ddr532
Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis
Nicole Gröger and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1025–1036, https://doi.org/10.1093/hmg/ddr533
DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death
Anne T. Bertrand and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1037–1048, https://doi.org/10.1093/hmg/ddr534
Tuberin and PRAS40 are anti-apoptotic gatekeepers during early human amniotic fluid stem-cell differentiation
Christiane Fuchs and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1049–1061, https://doi.org/10.1093/hmg/ddr535
Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy
Agatha Schlüter and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1062–1077, https://doi.org/10.1093/hmg/ddr536
Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neurons
Fredrik H. Sterky and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1078–1089, https://doi.org/10.1093/hmg/ddr537
Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression
MacLean Pancoast Nasrallah and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1090–1098, https://doi.org/10.1093/hmg/ddr538
Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network
Yoko Nakamura and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1099–1110, https://doi.org/10.1093/hmg/ddr539
C/EBPβ and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2α as the inducer in chondrocytes
Makoto Hirata and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1111–1123, https://doi.org/10.1093/hmg/ddr540
Pharmacologic activation of mitochondrial biogenesis exerts widespread beneficial effects in a transgenic mouse model of Huntington's disease
Ashu Johri and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1124–1137, https://doi.org/10.1093/hmg/ddr541
Cellular prion protein is essential for oligomeric amyloid-β-induced neuronal cell death
Wataru Kudo and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1138–1144, https://doi.org/10.1093/hmg/ddr542
Genetic polymorphism of cytochrome P450 2D6 determines oestrogen receptor activity of the major infertility drug clomiphene via its active metabolites
Thomas E. Mürdter and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1145–1154, https://doi.org/10.1093/hmg/ddr543
The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis
Detina Zalli and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1155–1171, https://doi.org/10.1093/hmg/ddr544
BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription
Patrick M. Grierson and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1172–1183, https://doi.org/10.1093/hmg/ddr545
ASSOCIATION STUDIES ARTICLES
Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese
Youling Guo and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1184–1189, https://doi.org/10.1093/hmg/ddr550
The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma
Summer S. Han and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Pages 1190–1200, https://doi.org/10.1093/hmg/ddr551
Corrigendum
The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response
Pan Chen and others
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Page 1201, https://doi.org/10.1093/hmg/ddr571
FRONT-MATTER/BACK-MATTER
Contents Page
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Page NP, https://doi.org/10.1093/hmg/dds041
Cover Page
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Page NP, https://doi.org/10.1093/hmg/dds042
Editorial Board
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Page NP, https://doi.org/10.1093/hmg/dds043
Subscription Page
Human Molecular Genetics, Volume 21, Issue 5, 1 March 2012, Page NP, https://doi.org/10.1093/hmg/dds044
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