Human Molecular Genetics
@hmg_journal
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Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics.
Joined January 2019
SPECIAL: 2025 REVIEWS ISSUE 1 https://t.co/jiXRPsHzL4 COVER: STING: a multifaced player in cellular homeostasis https://t.co/2l1waDBYOe
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A new preprint reports a rare case of a boy with X-linked Fanconi anemia in whom the hematopoietic phenotype (bone marrow failure) was completely rescued by full triploid mosaicism (69, XXY) 🤯 Fanconi anemia (FA) is an inherited genetic disorder caused by mutations in DNA
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Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans #RareDisease #Genetics
https://t.co/AOOtmUQOSh
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A GWAS of dilated cardiomyopathy in African ancestry individuals (1,802 cases/93,804 controls) revealed an intronic nonsense risk variant in CD36. The signal colocalizes with CD36 expression in heart tissue and explains 8% of dilated cardiomyopathy cases in this population.
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Complex de novo structural variants are an underestimated cause of rare disorders #RareDisease #Genetics
https://t.co/3BTTOksi5H
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Second-tier (Cr/Crn)/GAA ratio improves PPV of #PompeDisease #NewbornScreening but can it predict disease onset? https://t.co/Cqg8cqv0DZ
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Genome sequencing of ~30k predominately African-ancestry individuals in the Vanderbilt biobank. Relatively few people who have disease risk variants are aware of it. https://t.co/vcoYufvhbD
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Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice https://t.co/oNieMo9LTs
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ESC derived human cortical neurons harboring the NACC1 c.892C > T p.R298W missense mutation exhibit molecular differences from controls that influence neuronal maturation https://t.co/BDMJWcFvLF
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Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in Leber’s hereditary optic neuropathy patient-derived fibroblasts https://t.co/vSgYiNBavq
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New: Volume 34, Issue 21, 1 November 2025 Cover: Isogenic embryonic stem cell (ESC) line development, differentiation, and transcriptomic analysis to model the NACC1 neurodevelopmental disorder https://t.co/BDMJWcFvLF
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A common (MAF=9%) loss of function variant in CD36, encoding a fatty acid transporter, is found to be the major genetic risk factor of dilated cardiomyopathy (DCM) in African populations. 8% of the DCM cases in African populations could be explained by this single variant. Mind
Today in @NatureGenetics, we report the discovery of a common CD36 variant specific to individuals of African ancestry that increases risk of DCM, and may help explain the ~2x higher rate of DCM/heart failure in this population https://t.co/rEH2B8bzta
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Lower levels of the MRE11-ATLD1 variant cause severe disease symptoms, while higher expression mitigates phenotype severity in mouse models. by DeFoer MB, Mostafa AM (...) Sekiguchi JM et 6 al. in Hum Mol Genet https://t.co/g1jLmA69aq
#MedX #MedResearch
academic.oup.com
Abstract. The MRE11 DNA nuclease plays central roles in the repair of DNA double-strand breaks (DSBs) as a core component of the MRE11-RAD50-NBS1 (MRN) com
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A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect https://t.co/K1xHgkDA8E
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Bidirectional role of Costameres in the pathophysiology of mdx skeletal muscles https://t.co/ZKfwBisLvP
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Triploid & haploid conceptions are a common occurrence in humans, accounting for 10% of all pregnancy losses. @eva_hoffmann & co. of @AJHGNews latest study shed light on how meiotic checkpoint errors in oocytes can influence ploidy at time of conception: https://t.co/4VLqxA423x
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A new GWAS resource: a pheweb server hosting GWAS results of 100+ EHR phenotypes in >500,000 Han Chinese from the Taiwan Precision Medicine Initiative. https://t.co/lMVFH8IdHp Yang, Kwok, Li, Liu, Jong, Lee, et al. Nature 2025 https://t.co/7A9CjzOA6K
TPMI PheWeb offers GWAS/PheWAS results from 100K+ Han Chinese genomes linked to EHRs—an invaluable resource for exploring population-specific genetic associations and advancing precision medicine. 🔗 https://t.co/uhWaVfbtjY
@hailianghuang @doctorveera @XihongLin @buutrg
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