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Volume 21, Issue 23, 1 December 2012
Articles
The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module
Vanessa A. van Rahden and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5019–5038, https://doi.org/10.1093/hmg/dds343
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice
Cuiling Lu and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5039–5047, https://doi.org/10.1093/hmg/dds348
ETS1 regulates the expression of ATXN2
Daniel R. Scoles and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5048–5065, https://doi.org/10.1093/hmg/dds349
A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions
Francisca Diaz and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5066–5077, https://doi.org/10.1093/hmg/dds350
IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia
Paula Dietrich and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5078–5090, https://doi.org/10.1093/hmg/dds354
Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice
Magali Dumont and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5091–5105, https://doi.org/10.1093/hmg/dds355
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development
Laurence de Nijs and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5106–5117, https://doi.org/10.1093/hmg/dds356
PDGF-B-mediated downregulation of miR-21: new insights into PDGF signaling in glioblastoma
Pedro M. Costa and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5118–5130, https://doi.org/10.1093/hmg/dds358
Abnormal interaction of VDAC1 with amyloid beta and phosphorylated tau causes mitochondrial dysfunction in Alzheimer's disease
Maria Manczak and P. Hemachandra Reddy
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5131–5146, https://doi.org/10.1093/hmg/dds360
Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression
Lanying Song and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5147–5158, https://doi.org/10.1093/hmg/dds365
Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts
Massimo Tatti and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5159–5173, https://doi.org/10.1093/hmg/dds367
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies
Silvio Alessandro Di Gioia and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5174–5184, https://doi.org/10.1093/hmg/dds368
ASSOCIATION STUDIES ARTICLES
Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis
Jo Knight and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5185–5192, https://doi.org/10.1093/hmg/dds344
Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height
Julian C. Lui and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5193–5201, https://doi.org/10.1093/hmg/dds347
Seven newly identified loci for autoimmune thyroid disease
Jason D. Cooper and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5202–5208, https://doi.org/10.1093/hmg/dds357
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants
Brian D. Juran and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5209–5221, https://doi.org/10.1093/hmg/dds359
Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men
Guangfu Jin and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5222–5228, https://doi.org/10.1093/hmg/dds361
Can genetic associations change with age? CFH and age-related macular degeneration
Madeleine K.M. Adams and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Pages 5229–5236, https://doi.org/10.1093/hmg/dds364
Corrigenda
α-Synuclein levels modulate Huntington's disease in mice
Silvia Corrochano and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Page 5237, https://doi.org/10.1093/hmg/dds351
Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia
Cynthia Shannon Weickert and others
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Page 5238, https://doi.org/10.1093/hmg/dds366
FRONT-MATTER/BACK-MATTER
Contents Page
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Page NP, https://doi.org/10.1093/hmg/dds453
Cover Page
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Page NP, https://doi.org/10.1093/hmg/dds456
Editorial Board
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Page NP, https://doi.org/10.1093/hmg/dds459
Subscription Page
Human Molecular Genetics, Volume 21, Issue 23, 1 December 2012, Page NP, https://doi.org/10.1093/hmg/dds462
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