https://www.hindawi.com/journals/crig/2024/6475425/ Full title: Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T...
APOE4/4 is linked to damaging lipid droplets in Alzheimer’s disease microglia Haney, Michael S.; Pálovics, Róbert; Munson, Christy Nicole; Long,...
Abstract Raynaud’s phenomenon (RP) is a common vasospastic disorder that causes severe pain and ulcers, but despite its high reported...
Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of...
[A study from 2009.] Abstract Chronic fatigue syndrome (CFS) is characterized by debilitating fatigue, often accompanied by widespread muscle...
A common allele of HLA is associated with asymptomatic SARS-CoV-2 infection Abstract Studies have demonstrated that at least 20% of individuals...
I felt like writing about this. In my opinion ME/CFS is probably a label for several different poorly understood illnesses that happen to share...
Post copied from the DecodeME thread: I agree the 85% response rate is fantastic - unheard of really. Decode ME is such a brilliant study. On a...
Abstract Nucleotide-binding oligomerization domain-containing protein 2 (NOD2) is a protein encoded by the NOD2 gene and plays an important role...
Abstract (only): Exploring the Genetic Contribution to Oxidative Stress in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Nicholas Henry...
BBC: Thousands of children with severe developmental disorders have finally been given a diagnosis, in a study that found 60 new diseases....
Whole genome sequencing - NHS (I had a request to share some of my information about whole genome sequencing on a public thread so more people...
This thesis describes two investigations into the disease Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), specifically its genetic...
published paper posted on this thread here Preprint Abstract Background: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a...
Abstract Inborn errors of metabolism have traditionally been viewed as the quintessential single gene disorders; defects in one gene leads to...
Full title: No replication of previously reported association with genetic variants in the T cell receptor alpha (TRA) locus for myalgic...
Abstract Background: Myalgic encephalomyelitis (ME)/chronic fatigue syndrome (CFS) is a disabling multi-system complex disorder with prevalence...
Clarifying the causes of consistent and inconsistent findings in genetics Saloni Dattani, David M. Howard, Cathryn M. Lewis, Pak C. Sham...
Chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) is a multisystem disease, the pathogenesis of which remains undetermined. We set out...
Largest ME/CFS genetic study to date. Three different cohorts totaling more than 2500 patients. First Immunochip study in ME/CFS. Possible...
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