Publications by authors named "Nasrin Alipour Olyaei"
Major histocompatibility complex class I (MHC-I) deficiency, also known as bare lymphocyte syndrome type 1 (BLS-1), is a rare autosomal recessively inherited immunodeficiency disorder with remarkable clinical and biological heterogeneity. Transporter associated with antigen processing (TAP) is a member of the ATP-binding cassette superfamily of transporters and consists of two subunits, TAP1 or TAP2. Any defect resulting from a mutation or deletion of these two subunits may adversely affect the peptide translocation in the endoplasmic reticulum, which is an important process for properly assembling MHC-I molecules.
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- At least 10% of critical COVID-19 pneumonia cases are linked to genetic defects in type I interferon immunity and autoantibodies against these cytokines, with rare X-linked variants found in 16 male individuals aged 7 to 71 years.
- In a study involving 1,202 males with unexplained critical COVID-19, none of the asymptomatically infected participants had these deleterious variants, indicating a significant genetic component to severe illness.
- The research highlights that X-linked recessive TLR7 deficiency plays a crucial role in about 1.8% of critical COVID-19 cases in males under 60, as effective TLR7 and plasmacytoid dendritic cells are vital for
Article Synopsis
- Glycogen storage diseases (GSDs) are a diverse set of disorders caused by mutations in over 30 different genes, often presenting similar symptoms that can make them difficult to diagnose.
- This study used whole-exome sequencing (WES) on three unrelated families suspected of having liver GSDs, employing a custom filtering pipeline to identify rare pathogenic variants related to GSD genes and other important genetic conditions.
- The analysis uncovered three novel genetic variants associated with specific GSDs—HERS disease and Fanconi-Bickel syndrome—and identified other actionable medical and pharmacogenetic findings that could inform patient treatment and genetic counseling.
Article Synopsis
- Breast cancer is the second most common cancer globally, significantly impacting women, with gene expression analysis used to guide prognosis and treatment.
- The study examined the expression of five specific genes (SIRT3, HRAS, LSP1, SCUBE2, and AP2A2) in 136 Iranian women with breast cancer, revealing varying expression levels among patients and controls.
- Key findings indicated that while SIRT3 levels were consistent, LSP1 was downregulated in patients, HRAS was overexpressed in tumors, and SCUBE2 showed increased expression, highlighting their potential as biomarkers and prognostic factors in breast cancer.