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Volume 23, Issue 12, 15 June 2014
Articles
Fate of induced pluripotent stem cells following transplantation to murine seminiferous tubules
Jens Durruthy Durruthy and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3071–3084, https://doi.org/10.1093/hmg/ddu012
Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice
Alison M. Muir and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3085–3101, https://doi.org/10.1093/hmg/ddu013
Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS
Shannon M. Conley and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3102–3114, https://doi.org/10.1093/hmg/ddu014
Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot
Marcel Grunert and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3115–3128, https://doi.org/10.1093/hmg/ddu021
Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease
Angelica Vittori and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3129–3137, https://doi.org/10.1093/hmg/ddu022
microRNA-224 regulates Pentraxin 3, a component of the humoral arm of innate immunity, in inner ear inflammation
Anya Rudnicki and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3138–3146, https://doi.org/10.1093/hmg/ddu023
Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease
Jordi Duran and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3147–3156, https://doi.org/10.1093/hmg/ddu024
Thiol peroxidases ameliorate LRRK2 mutant-induced mitochondrial and dopaminergic neuronal degeneration in Drosophila
Dario C. Angeles and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3157–3165, https://doi.org/10.1093/hmg/ddu026
Identification of a post-translationally myristoylated autophagy-inducing domain released by caspase cleavage of Huntingtin
Dale D.O. Martin and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3166–3179, https://doi.org/10.1093/hmg/ddu027
Human skeletal muscle xenograft as a new preclinical model for muscle disorders
Yuanfan Zhang and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3180–3188, https://doi.org/10.1093/hmg/ddu028
Partial restoration of cardiac function with ΔPDZ nNOS in aged mdx model of Duchenne cardiomyopathy
Yi Lai and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3189–3199, https://doi.org/10.1093/hmg/ddu029
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
Hilary C. Martin and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3200–3211, https://doi.org/10.1093/hmg/ddu030
Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production
Amanda K. Tilot and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3212–3227, https://doi.org/10.1093/hmg/ddu031
CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size
Anna Lisa Ludwig and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3228–3238, https://doi.org/10.1093/hmg/ddu032
Long-term treatment with naproxcinod significantly improves skeletal and cardiac disease phenotype in the mdx mouse model of dystrophy
Kitipong Uaesoontrachoon and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3239–3249, https://doi.org/10.1093/hmg/ddu033
Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy
Annalisa Lattanzi and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3250–3268, https://doi.org/10.1093/hmg/ddu034
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
Keren J. Carss and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3269–3277, https://doi.org/10.1093/hmg/ddu038
A distinct set of long non-coding RNAs in childhood MLL-rearranged acute lymphoblastic leukemia: biology and epigenetic target
Ke Fang and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3278–3288, https://doi.org/10.1093/hmg/ddu040
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish
Regie Lyn P. Santos-Cortez and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3289–3298, https://doi.org/10.1093/hmg/ddu042
Fat mass and obesity-associated (FTO) protein interacts with CaMKII and modulates the activity of CREB signaling pathway
Li Lin and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3299–3306, https://doi.org/10.1093/hmg/ddu043
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome
Mohammed A. Aldahmesh and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3307–3315, https://doi.org/10.1093/hmg/ddu044
ASSOCIATION STUDIES ARTICLES
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis
Derek W. Morris and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3316–3326, https://doi.org/10.1093/hmg/ddu025
Meta-analysis of loci associated with age at natural menopause in African-American women
Christina T.L. Chen and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3327–3342, https://doi.org/10.1093/hmg/ddu041
A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort
Abhishek Nag and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3343–3348, https://doi.org/10.1093/hmg/ddu050
FRONT-MATTER/BACK-MATTER
Contents Page
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Page NP, https://doi.org/10.1093/hmg/ddu260
Cover Page
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Page NP, https://doi.org/10.1093/hmg/ddu261
Editorial Board
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Page NP, https://doi.org/10.1093/hmg/ddu262
Subscription Page
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Page NP, https://doi.org/10.1093/hmg/ddu263
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