Results 101 to 110 of about 23,995 (263)
Inactive alleles of cytochrome P450 2C19 may be positively selected in human evolution Genome evolution and evolutionary systems biology [PDF]
, 2014 © 2014 Janha et al.; licensee BioMed Central Ltd.Background: Cytochrome P450 CYP2C19 metabolizes a wide range of pharmacologically active substances and a relatively small number of naturally occurring environmental toxins.
Janha, RE +5 more
core +3 more sources
Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants
Indian Journal of Hematology and Blood Transfusion, 2019 G6PD deficiency is a monogenic, X-linked genetic defect with a worldwide prevalence of around 400 million people and an overall prevalence of 8.5% in India. Hemolytic anemia is encountered in only a small proportion of patients with G6PD variants and is usually triggered by some exogenous agent.
Arun Kumar, Arunachalam +6 more
openaire +3 more sources
The return of metabolism: biochemistry and physiology of glycolysis
Biological Reviews, Volume 101, Issue 2, Page 751-803, April 2026.ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning +19 more
wiley +1 more source
Cancer Science, Volume 117, Issue 4, Page 1010-1025, April 2026.FB23‐2 potentiates cisplatin's antitumor efficacy in head and neck squamous cell carcinoma by disrupting XPF/ERCC1 complex assembly and nuclear translocation, thereby suppressing DNA damage repair machinery and amplifying platinum‐induced tumor cell death.
Yaoqi Jiang +7 more
wiley +1 more source
Molecular Genetics & Genomic MedicineBackground Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is an X‐linked recessive disorder that predisposes individuals to hemolysis due to an inborn error of metabolism.
Neel S. Iyer +6 more
doaj +1 more source
Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman [PDF]
, 2010 Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder, is usually observed in hemizygote males and very rarely in females. The G6PD class 1 variants, very uncommon, are associated with chronic hemolytic anemia.
Bento, C +6 more
core
Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers [PDF]
, 2009 Malaria has occurred in the Cabo Verde archipelago with epidemic characteristics since its colonization. Nowadays, it occurs in Santiago Island alone and though prophylaxis is not recommended by the World Health Organization, studies have highlight the ...
Alves, Joana +10 more
core +1 more source
Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
International Journal of Laboratory Hematology, Volume 48, Issue 2, Page 295-304, April 2026.ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source
Pyruvate kinase deficiency and G6PD deficiency
SEIBUTSU BUTSURI KAGAKU, 1978 G6PD deficiency was discovered in 1956. It causes drug-induced acute hemolysis and is inherited by a sex-linked recessive trait. While the disorder is frequently seen in Negroes and inhabitants around the Mediterranean basin, it is rare in Japanese, the frequency of which is about 0.1%.
openaire +2 more sources