Publications by authors named "M N Bamne"
Article Synopsis
- Sickle cell disease (SCD) can lead to hepatic crises, but the exact molecular mechanisms of liver injury in SCD are not well understood, prompting research using humanized mouse models and patient blood samples.* -
- The study found that SCD mice showed liver issues like sinusoidal ischemia and increased liver size due to activation of NF-κB, which disrupted farnesoid X receptor (FXR) function and impaired bile transport and metabolism, causing bile buildup in the liver.* -
- By blocking NF-κB activation, researchers were able to restore FXR signaling and reduce liver damage in SCD mice, highlighting a potential target for treatments of liver-related complications in sickle cell disease.*
A variable number tandem repeat polymorphism (VNTR) in the period 3 (PER3) gene has been associated with heritable sleep and circadian variables, including self-rated chronotypes, polysomnographic (PSG) variables, insomnia and circadian sleep-wake disorders. This report describes novel molecular and clinical analyses of PER3 VNTR polymorphisms to better define their functional consequences. As the PER3 VNTR is located in the exonic (protein coding) region of PER3, we initially investigated whether both alleles (variants) are transcribed into messenger RNA in human fibroblasts.
View Article and Find Full Text PDFOver 20 risk loci have been identified for late-onset Alzheimer's disease (LOAD), most of which display relatively small effect sizes. Recently, a rare missense (R47H) variant, rs75932628 in TREM2, has been shown to mediate LOAD risk substantially in Icelandic and Caucasian populations. Here, we present more evidence for the association of the R47H with LOAD risk in a Caucasian population comprising 4567 LOAD cases and controls.
View Article and Find Full Text PDFGenetic variation in lipid regulatory genes, particularly APOE, significantly influences the risk of coronary artery disease (CAD). This study aimed to assess the association between APOE polymorphism and angiographically assessed coronary stenosis in Pakistani population. A total of 695 subjects (22.
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