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Background: The Bombay and para-Bombay blood groups are rare blood types that are significant to clinical blood transfusions. Accurate para-Bombay blood group identification is important for the safety of transfusions.
Methods: Serological and molecular biology methods were used to detect one case of ABO blood type.
There is no doubt that global warming, with its extreme heat events, is having an increasing impact on human health. Heat is not independent of ambient temperature but acts synergistically with relative humidity (RH) to increase the risk of several diseases, such as cardiovascular and pulmonary diseases. Although the skin is the organ in direct contact with the environment, it is currently unknown whether skin health is similarly affected.
View Article and Find Full Text PDFIdentification of two novel variants, c.-35A>T and c.[-35A>T, 725T>G], in the FUT1 gene in a patient exhibiting the para-Bombay phenotype.
Transfusion
December 2024
Graduate Program in Biomedical Sciences, Faculty of Allied Health Sciences, Thammasat University, Pathumtani, Thailand.
Background: Reduced or absent H antigens on red cells with the (para-)Bombay phenotype can arise from FUT1 gene mutations, impacting the structure and function of 1,2-L-fucosyltransferase 1 (1,2-L-FucT1). Here, we identified the novel mutations in one patient displaying the para-Bombay phenotype and examined the potential molecular mechanisms underlying this phenotype.
Materials And Methods: ABH antigens and antibodies were detected in patient's blood and saliva using serological methods.
Association of Secretor And Nonsecretor Status with Lewis Phenotyping Among Blood Donors: A Prospective Observational Study from Tertiary Care Hospital.
Indian J Hematol Blood Transfus
October 2024
Department of Transfusion Medicine, JIPMER (Jawaharlal Institute of Postgraduate Medical Education and Research), Puducherry, India.
Article Synopsis
- The expression of ABO (ABH) antigens on red blood cells and the secretion of ABH substances in bodily fluids are controlled by different genes, with the Secretor gene determining secretor status.
- A study conducted on 318 blood donors in South India from Jan 2020 to Dec 2021 found that 72% were secretors while 28% were nonsecretors, revealing a clear relationship between secretor status and Lewis phenotyping.
- The findings suggest that knowing the Lewis phenotype can help identify blood group secretor status, which is crucial for resolving discrepancies in ABO blood groups in medical settings.
Spectrum of Clinical Variability with SEPT9 Gene Mutation in Hereditary Neuralgic Amyotrophy: Understanding the Pathogenesis Using Molecular Dynamics Simulation Study.
Neurol India
September 2024
Department of Genetics, ICMR-National Institute for Research in Reproductive Health (ICMR-NIRRH), Jahangir Merwanji Street, Maharashtra, India.
Article Synopsis
- Hereditary Neuralgic Amyotrophy (HNA) is an autosomal dominant disorder linked to mutations in the SEPTIN9 gene, causing episodes of severe pain and muscle atrophy, particularly affecting the brachial plexus.
- * In a study of a large family with HNA, genetic analysis showed a mutation (NM_001113491.2:p.Arg106Trp) in the SEPTIN9 gene present in six affected members, leading to significant changes in the protein's structure and function.
- * Despite sharing the same genetic mutation, affected family members exhibited a wide range of symptoms, suggesting that factors such as variable penetrance and epigenetic influences may contribute to this variability.
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