Results 51 to 60 of about 4,171 (132)

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, Volume 183, Issue 16, Page 4735-4760, August 2026.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China

Diabetology & Metabolic Syndrome, 2022
Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human genetic abnormalities, with a high prevalence in Guangdong, China.
Aijing Xu, Minyan Jiang, Wen Zhang, Yunting Lin, Yongxian Shao, Huifen Mei, Jing Cheng, Cuili Liang, Cuiling Li, Xiuzhen Li, Li Liu   +10 more
doaj   +1 more source

Strain‐Specific Biotransformation of Grape Marc by Lactic Acid Bacteria: Genomic Validation and Gut Microbiota Modulation

Food Frontiers, Volume 7, Issue 4, July 2026.
ABSTRACT Grape marc (GM) is a polyphenol‐rich winery byproduct that remains underutilized due to its complex fiber matrix, which limits the bioaccessibility of bound phenolics. While lactic acid fermentation (LAF) can enhance the release of these compounds, the strain‐specific metabolic fate of GM phenolics during digestion and colonic fermentation ...
Ziyao Liu, Hanjing Wu, Brendan Holland, Colin J. Barrow, Hafiz A. R. Suleria   +4 more
wiley   +1 more source

Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil

Einstein (São Paulo)
Objective To evaluate the prevalence of G6PD deficiency and characterize G202A, A376G and C563T polymorphisms in neonates using molecular assays. Methods A total of one thousand samples were tested through quantitative analysis of enzyme activity ...
Lucas Luís Meigre Dias Pereira, Cristina Augusta Bravin, Terezinha Sarquis Cintra, Wélida Santos Portela Cassa, Thainá Altoé Santos, Armando Fonseca, Rodrigo Pratte-Santos   +6 more
doaj   +1 more source

Dynamics of G6PD activity in patients receiving weekly primaquine for therapy of Plasmodium vivax malaria.

PLoS Neglected Tropical Diseases, 2021
BackgroundAcute Plasmodium vivax malaria is associated with haemolysis, bone marrow suppression, reticulocytopenia, and post-treatment reticulocytosis leading to haemoglobin recovery. Little is known how malaria affects glucose-6-phosphate dehydrogenase (
Walter R J Taylor, Saorin Kim, Sim Kheng, Sinoun Muth, Pety Tor, Eva Christophel, Mavuto Mukaka, Alexandra Kerleguer, Lucio Luzzatto, J Kevin Baird, Didier Menard   +10 more
doaj   +1 more source

Splenectomy Impact and Outcome Among Patients With Sickle Cell Disease: A Cross‐Sectional Study

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background It is common to perform a splenectomy for patients with sickle cell disease (SCD); however, our understanding of its impact on long‐term clinical outcomes remains incomplete. Objectives To evaluate the clinical outcomes of splenectomy in SCD patients and to assess perioperative physician practices.
Mortadah Alsalman, Zainab Bu‐Khamsin, Fatimah AlSahaf, Fatima Al Amer, Fatema Alhelal, Ali Essa, Mohammed Alessa, Somaia Shehab‐Eldeen, Abdallah Essa   +8 more
wiley   +1 more source

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

Orphanet Journal of Rare Diseases, 2021
Background Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack of enough knowledge on its natural history ...
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Leticia Belmont-Martínez, Carlos López-Candiani, Isabel Ibarra-González   +5 more
doaj   +1 more source

Embedded CRISPRi Enhances Gene‐Silencing Efficiency in Drosophila

Advanced Science, Volume 13, Issue 31, 4 June 2026.
Current CRISPR interference (CRISPRi) technology in Drosophila has limited efficiency. This study introduces the emCRISPRi platform, which significantly enhances transcriptional silencing efficacy by embedding inhibitory domains within the dCas9 architecture.
Pengchong Fu, Xuedi Zhang, Ying Zhou, Jie Zheng, Angyang Sun, Kailong Zhuang, Weiwei Bao, Guanjun Gao   +7 more
wiley   +1 more source

Evaluating the relationship between Clinical G6PD enzyme activity and gene variants [PDF]

PeerJ
Glucose-6-phosphate dehydrogenase (G6PD) is a the first and rate-limiting enzyme that plays a critical role in G6PD deficiency, the most common enzyme disorder worldwide, is related to intravascular hemolysis.
Xinyi Zhou, Zheng Qiang, Sufen Zhang, Yuqiu Zhou, Qizhi Xiao, Gongjun Tan   +5 more
doaj   +2 more sources

Deep intronic ANK1 variants causing pseudo‐exon inclusion in hereditary spherocytosis: Whole‐genome sequencing and functional assessment

British Journal of Haematology, EarlyView.
Victor Marin, Alexandre Janin, Céline Renoux, Yoann Huguenin, AURAGEN consortium, Stéphanie Dulucq, Louis Lebreton, Philippe Joly, Julian Boutin   +8 more
wiley   +1 more source