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Haemoglobin (Hb) AE Bart's Disease in a Young Patient: A Case Report.
Cureus
December 2024
Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, MYS.
Haemoglobin (Hb) AE Bart's disease is a rare form of thalassemia that results from the co-inheritance of Hb E and alpha thalassemia, typically with Hb H disease. The clinical severity can vary depending on the underlying genetic mutations, particularly in the presence of Hb Constant Spring (Hb CS), which is a highly unstable form of alpha thalassemia. Understanding the genetic basis and haematological profiles of Hb AE Bart's disease is crucial for proper diagnosis and management.
View Article and Find Full Text PDFA Variable Clinical Presentation of Hemoglobin City of Hope.
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December 2024
Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Hemoglobin City of Hope (Hb-COH), NC_000011.9(NM_000518.5):c.
View Article and Find Full Text PDFThe APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event.
G3 (Bethesda)
December 2024
Harvard Medical School, Boston, MA, 02215, USA.
Black Americans are three to four times more likely to develop nondiabetic kidney disease than other populations. Exclusively found in people of recent African (AFR) ancestry, risk variants in Apolipoprotein L1 (APOL1) termed G1 and G2 contribute significantly to this increased susceptibility. Our group and others showed that a missense variant in APOL1, rs73885316 (p.
View Article and Find Full Text PDFA novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family.
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Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.
Hereditary antithrombin (AT) deficiency due to mutations in SERPINC1 is known to be the most severe form of thrombophilia. We report three members in a family with hereditary AT deficiency with a novel mutation in exon 2 of SERPINC1, that is c.119 G>A (p.
View Article and Find Full Text PDFTranscriptomic Insights into the Atrial Fibrillation Susceptibility Locus near the and Genes.
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September 2024
Departments of Cardiovascular & Metabolic Sciences, Cleveland Clinic, Cleveland, OH 44195, USA.
Genome-wide association studies have identified a locus on chromosome 10q22, where many co-inherited single nucleotide polymorphisms (SNPs) are associated with atrial fibrillation (AF). This study seeks to identify the impact of this locus on gene expression at the transcript isoform level in human left atria and to gain insight into potential causal variants. Bulk RNA sequencing was analyzed to identify myozenin 1 () and synaptopodin 2-like () transcript isoforms and the association of common SNPs in this region with transcript isoform expression levels.
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