
Volume 29, Issue 20
15 October 2020
Cover image
Cover image

Cover: Confocal image showing a coronal slice from a mouse cortex at embryonic day 14. Cell nuclei are stained with DAPI (blue), cells that have undergone one cell division are labelled with BrdU (green), and cortical progenitors are labelled with Sox9 (red). Sterling & Duncan et al. found that a human patient with a heterozygous mutation in MPP5 was born with microcephaly. A conditional, heterozygous deletion of MPP5 using Nestin-Cre in mice also resulted in a microcephaly phenotype due to diminution of proliferating cortical progenitors and compromised cell survival, supporting the pathogenic effects of de novo mutations of MPP5.
ISSN 0964-6906
EISSN 1460-2083
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Volume 29, Issue 20, 15 October 2020
Articles
The Duffy-null genotype and risk of infection
Sophie E Legge and others
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3341–3349, https://doi.org/10.1093/hmg/ddaa208
Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethality in mice
Marjorie J Lindhurst and others
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3350–3360, https://doi.org/10.1093/hmg/ddaa216
RNA-Seq profiling of leukocytes reveals a sex-dependent global circular RNA upregulation in multiple sclerosis and 6 candidate biomarkers
Leire Iparraguirre and others
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3361–3372, https://doi.org/10.1093/hmg/ddaa219
Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye
Wesley R Sun and others
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3373–3387, https://doi.org/10.1093/hmg/ddaa228
De novo variants in MPP5 cause global developmental delay and behavioral changes
Noelle Sterling and others
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3388–3401, https://doi.org/10.1093/hmg/ddaa224
Variants in RABL2A causing male infertility and ciliopathy
Xinbao Ding and others
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3402–3411, https://doi.org/10.1093/hmg/ddaa230
SWI/SNF inactivation in the endometrial epithelium leads to loss of epithelial integrity
Jake J Reske and others
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3412–3430, https://doi.org/10.1093/hmg/ddaa227
Unravelling the disease mechanism for TSPYL1 deficiency
Gunnar Buyse and others
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3431–3442, https://doi.org/10.1093/hmg/ddaa233
Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion
Annabel Berthon and others
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3443–3450, https://doi.org/10.1093/hmg/ddaa215
Association Studies Article
Insights into genetic variants associated with NASH-fibrosis from metabolite profiling
Jake P Mann and others
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Pages 3451–3463, https://doi.org/10.1093/hmg/ddaa162
Corrigendum
Corrigendum to: Genome-wide heritability analysis of severe malaria resistance reveals evidence of polygenic inheritance
Delesa Damena and Emile R Chimusa
Human Molecular Genetics, Volume 29, Issue 20, 15 October 2020, Page 3464, https://doi.org/10.1093/hmg/ddaa241
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