Early recurrence of focal segmental glomerulosclerosis in a kidney transplant recipient with APOL1 one risk variant
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2023-254593
Abstract: Apolipoprotein 1 (APOL1) risk variants (G1 and G2) are associated with focal segmental glomerulosclerosis (FSGS) in patients of African ancestry. The prevalence of APOL1 two risk variants is lower in Hispanics and very rare in… read more here.
Keywords: recipient; focal segmental; risk variant; kidney ... See more keywords
Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-01073-z
Abstract: Background Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with neuronal cell inclusions composed of neurofilaments and other abnormal aggregative proteins as pathological hallmarks. Approximately 90% of patients have sporadic cases (sALS), and at… read more here.
Keywords: risk variant; risk; ser787arg; amyotrophic lateral ... See more keywords
SH2B3 (lnk) Regulates Type 1 Diabetes Immune Phenotypes
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DOI: 10.2337/db18-224-lb
Abstract: Background: The type 1 diabetes (T1D)-associated risk gene SH2B Adaptor Protein 3 (SH2B3) encodes a phosphatase with specificity for Janus Kinase 2 (JAK2). We hypothesized that variations in SH2B3 would affect immune signaling pathways relevant… read more here.
Keywords: risk variant; t1d; risk; variant ... See more keywords