Human Molecular Genetics
@hmg_journal
Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics.
Latest Issue: academic.oup.com/hmg/issue/34/14 Cover article: doi.org/10.1093/hmg/dd…
Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis doi.org/10.1093/hmg/dd…
Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci doi.org/10.1093/hmg/dd…
Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function doi.org/10.1093/hmg/dd…
Thrilled to announce that our book chapter was published by @routledgebooks in #OpenAccess. This chapter is part of an outstanding 740-page book that examines the early events of the Bantu expansion in Central Africa from multidisciplinary perspectives. 🧵taylorfrancis.com/chapters/oa-ed…
Classification of missense variants in the N-methyl-D-aspartate receptor GRIN gene family as gain- or loss-of-function academic.oup.com/hmg/article/do…
New research from @vforvanitha & colleagues outlines distinct pathways controlling neurodegeneration & protein degradation in complex I deficiency; RIOK kinases; Implications for #Parkinsons? academic.oup.com/hmg/advance-ar…
New research finds that GBA1-associated #Parkinsons-dopamine neurons have autophagy defects that may be caused by the deleterious effects of glucosylsphingosine-dependent mTOR hyperactivation; Inhibition of acid ceramidase prevents this &⬇️synuclein agg. academic.oup.com/hmg/advance-ar…
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models doi.org/10.1093/hmg/dd…
Whole-genome sequencing reveals the impact of lipid pathway and APOE genotype on brain amyloidosis doi.org/10.1093/hmg/dd…
💀 Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation Human Molecular Genetics, Volume 14, Issue 7, 1 April 2005, Pages 953–965, doi.org/10.1093/hmg/dd… academic.oup.com/hmg/article-ab…
We know that DNAJB6 mutations cause skeletal myopathy but we know less about the function of DNAJB6 in muscle. @emilymckaige and co-authors have found that mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model academic.oup.com/hmg/advance-ar…
Macrophages: sentinels, warriors, and healers. Our latest review on macrophages @EricBartnicki and Eduardo! @lab_khanna academic.oup.com/hmg/article-ab… academic.oup.com/hmg/advance-ar…
New research from @WadeMartinsLab & colleagues explores mitochondrial dysfunction & mitophagy defects in LRRK2-R1441C-associated #Parkinsons models; Also shows LRRK2 interaction with MIRO1 occurs at mitochondria, in a genotype-independent manner academic.oup.com/hmg/advance-ar…
RT @FranMartinezGr: The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome #RareDisease #Genetics #morbidgene academic.oup.com/hmg/advance-ar…
New research suggests that #Parkinsons-associated α-synuclein is an accessory factor that positively modulates the anterograde transport of endolysosomes in melanoma cells & loss of α-syn expression results signif. inhibited growth, invasion, & migration academic.oup.com/hmg/advance-ar…
New paper! Our team developed a new missense variant pathogenicity and function predictor for #GRIN1, #GRIN2A, #GRIN2B & #GRIN2D genes, linked to severe neurodevelopmental disorders (NDDs). 🔗to Study: academic.oup.com/hmg/advance-ar… #bioinformatics #precisionmedicine #genetics
Very proud of you Sampurna - @thought_riot08 - for persevering and succeeding…your PhD labour is starting to come to fruition! And the best is yet to come. #mitochondria #disease academic.oup.com/hmg/advance-ar…
This is an interesting review of the groundbreaking contributions of the H3Africa Consortium and the H3ABioNet network. Congrats Dhriti Sengupta, Ananyo Choudhury, and Michèle Ramsay for this great piece. academic.oup.com/hmg/advance-ar…
New international collaborative work incl. our team on KDM2B: KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome academic.oup.com/hmg/article/do… #NDD, #genetics #genomics #morbidgene
.@HGGAdvances article identifies SMAD5 variants in six families with congenital heart disease. Through in silico and functional assessments, the authors implicate haploinsufficiency as the cause of the cardiac abnormalities: cell.com/hgg-advances/f… #ASHG