Volume 26, Issue 11
1 June 2017
Cover image
Cover image
Cover: Transverse view of the dorsal trunk region of a wildtype E10.5 mouse embryo immunolabelled for myosin heavy chain (red), laminin α2 chain (green) and with DAPI staining (blue). The myotome, containing differentiated myocytes (red) and myoblasts, stains strongly for laminin α2 (green). When α2-laminins are absent, as in merosin-deficient congenital muscular dystrophy (MDC1A), fetal muscle growth is impaired, and normal muscle size is not recovered postnatally. MDC1A thus starts before birth in laminin α2-deficient mice and the onset of the disease in utero is marked by impaired fetal myogenesis. See article by Nunes et al., pp. 2018–2033.
ISSN 0964-6906
EISSN 1460-2083
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Volume 26, Issue 11, 1 June 2017
Articles
Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle
Aurelia Defour; Sushma Medikayala; Jack H. Van der Meulen; Marshall W. Hogarth; Nicholas Holdreith
...
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 1979–1991, https://doi.org/10.1093/hmg/ddx065
Tags:
annexin a2, dysferlin, inflammation, mice, muscle function
Disrupted-in-Schizophrenia-1 is essential for normal hypothalamic-pituitary-interrenal (HPI) axis function
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 1992–2005, https://doi.org/10.1093/hmg/ddx076
Tags:
adult, behavior, disc1 gene, embryo, history of present illness
Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2006–2017, https://doi.org/10.1093/hmg/ddx080
Impaired fetal muscle development and JAK-STAT activation mark disease onset and progression in a mouse model for merosin-deficient congenital muscular dystrophy
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2018–2033, https://doi.org/10.1093/hmg/ddx083
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot–Marie–Tooth disease 2P
Johanna E. Hakonen; Vincenzo Sorrentino; Rossella Avagliano Trezza; Marit B. de Wissel; Marlene van den Berg
...
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2034–2041, https://doi.org/10.1093/hmg/ddx089
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2042–2052, https://doi.org/10.1093/hmg/ddx094
Bimodal regulation of Dishevelled function by Vangl2 during morphogenesis
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2053–2061, https://doi.org/10.1093/hmg/ddx095
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2062–2075, https://doi.org/10.1093/hmg/ddx099
Collagen XIII secures pre- and postsynaptic integrity of the neuromuscular synapse
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2076–2090, https://doi.org/10.1093/hmg/ddx101
Scn2a deletion improves survival and brain–heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP)
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2091–2103, https://doi.org/10.1093/hmg/ddx104
Genetic modifications of Mecr reveal a role for mitochondrial 2-enoyl-CoA/ACP reductase in placental development in mice
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2104–2117, https://doi.org/10.1093/hmg/ddx105
Tags:
embryo, mice, mitochondria, oxidoreductase, placentation
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2118–2132, https://doi.org/10.1093/hmg/ddx107
Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2133–2145, https://doi.org/10.1093/hmg/ddx108
A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2146–2155, https://doi.org/10.1093/hmg/ddx112
Tags:
actins, adult, diptera, drosophila, motor neurons
Association Studies Articles
Detection of genetic loci associated with plasma fetuin-A: a meta-analysis of genome-wide association studies from the CHARGE Consortium
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2156–2163, https://doi.org/10.1093/hmg/ddx091
Identification of genetic variants affecting vitamin D receptor binding and associations with autoimmune disease
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2164–2176, https://doi.org/10.1093/hmg/ddx092