Volume 21, Issue 4
15 February 2012
ISSN 0964-6906
EISSN 1460-2083
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Volume 21, Issue 4, 15 February 2012
Articles
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 721–729, https://doi.org/10.1093/hmg/ddr504
A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 730–750, https://doi.org/10.1093/hmg/ddr505
Derivation of new human embryonic stem cell lines reveals rapid epigenetic progression in vitro that can be prevented by chemical modification of chromatin
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 751–764, https://doi.org/10.1093/hmg/ddr506
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 765–775, https://doi.org/10.1093/hmg/ddr508
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 776–783, https://doi.org/10.1093/hmg/ddr509
A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 784–798, https://doi.org/10.1093/hmg/ddr510
Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 799–810, https://doi.org/10.1093/hmg/ddr511
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 811–825, https://doi.org/10.1093/hmg/ddr512
The BH4 domain of Bcl-XL rescues astrocyte degeneration in amyotrophic lateral sclerosis by modulating intracellular calcium signals
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 826–840, https://doi.org/10.1093/hmg/ddr513
A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 841–851, https://doi.org/10.1093/hmg/ddr514
Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 852–862, https://doi.org/10.1093/hmg/ddr515
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 863–873, https://doi.org/10.1093/hmg/ddr520
Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 874–889, https://doi.org/10.1093/hmg/ddr521
LRRK2 Parkinson disease mutations enhance its microtubule association
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 890–899, https://doi.org/10.1093/hmg/ddr526
In vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylation
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 900–915, https://doi.org/10.1093/hmg/ddr527
Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 916–925, https://doi.org/10.1093/hmg/ddr528
ASSOCIATION STUDIES ARTICLES
A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 926–933, https://doi.org/10.1093/hmg/ddr522
Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 934–946, https://doi.org/10.1093/hmg/ddr523
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 947–957, https://doi.org/10.1093/hmg/ddr524
Gene–gene interactions in breast cancer susceptibility
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Pages 958–962, https://doi.org/10.1093/hmg/ddr525
FRONT-MATTER/BACK-MATTER
Contents Page
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Page NP, https://doi.org/10.1093/hmg/dds014
Cover Page
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Page NP, https://doi.org/10.1093/hmg/dds015
Editorial Board
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Page NP, https://doi.org/10.1093/hmg/dds016
Subscription Page
Human Molecular Genetics, Volume 21, Issue 4, 15 February 2012, Page NP, https://doi.org/10.1093/hmg/dds017
