Volume 31, Issue 17
1 September 2022
Cover image
Cover image
Cover: Genetic variants in SCN2A, encoding the NaV1.2 voltage-gated sodium channel, are associated with neurodevelopmental disorders. The variant SCN2A-p.K1422E results in substitution of glutamic acid for lysine (DEKA to DEEA) in the highly conserved ion selectivity filter, and converts channels from being highly selective for sodium into channels that permeate other cations, including calcium. This change in permeability can be observed during action potential (AP) initiation. Under normal conditions, calcium influx occurs only during AP repolarization. In mice heterozygous for Scn2aK1422E, aberrant calcium influx was observed during the rising phase of the AP in axonal regions enriched with NaV1.2 channels.
ISSN 0964-6906
EISSN 1460-2083
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Volume 31, Issue 17, 1 September 2022
Articles
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 2845–2856, https://doi.org/10.1093/hmg/ddac074
Caspar, an adapter for VAPB and TER94, modulates the progression of ALS8 by regulating IMD/NFκB-mediated glial inflammation in a Drosophila model of human disease
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 2857–2875, https://doi.org/10.1093/hmg/ddac076
Genetic architecture of RNA editing regulation in Alzheimer’s disease across diverse ancestral populations
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 2876–2886, https://doi.org/10.1093/hmg/ddac075
Phenome-wide screening of the putative causal determinants of depression using genetic data
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 2887–2898, https://doi.org/10.1093/hmg/ddac081
Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 2899–2917, https://doi.org/10.1093/hmg/ddac082
Alpha-synucleinopathy reduces NMNAT3 protein levels and neurite formation that can be rescued by targeting the NAD+ pathway
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 2918–2933, https://doi.org/10.1093/hmg/ddac077
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 2934–2950, https://doi.org/10.1093/hmg/ddac085
An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 2951–2963, https://doi.org/10.1093/hmg/ddac086
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 2964–2988, https://doi.org/10.1093/hmg/ddac087
A combinatorial approach increases SMN level in SMA model mice
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 2989–3000, https://doi.org/10.1093/hmg/ddac068
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 3001–3011, https://doi.org/10.1093/hmg/ddac089
Association Studies Article
A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Pages 3012–3019, https://doi.org/10.1093/hmg/ddac048
Correction
Correction to: Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology
Human Molecular Genetics, Volume 31, Issue 17, 1 September 2022, Page 3020, https://doi.org/10.1093/hmg/ddac154
