Results 91 to 100 of about 23,913 (202)

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Management of Treatment Resistant EGFR Inhibitor‐Induced Papulopustular Exanthema With Isotretinoin and Dapsone

Australasian Journal of Dermatology, Volume 67, Issue 5, Page 288-293, August 2026.
ABSTRACT Background/Objectives Epidermal growth factor receptor inhibitors (EGFRi) commonly cause papulopustular exanthemas that may compromise the success of cancer therapy. While tetracyclines are first‐line treatment, data on alternative systemic agents for refractory cases remain limited.
Ishana Dixit, Raquel Ruiz Araujo, Pablo Fernandez‐Peñas   +2 more
wiley   +1 more source

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

Evidence for G6PD variant classification from multiplexed functional assays

Genome Biology
Background G6PD deficiency is one of the most common enzyme deficiencies worldwide, and increases the likelihood of adverse reactions to certain drugs and foods.
Renee C. Geck, Melinda K. Wheelock, Rachel L. Powell, Ziyu R. Wang, Daniel L. Holmes, Shawn Fayer, Gabriel E. Boyle, Allyssa J. Vandi, Abby V. McGee, Clara J. Amorosi, Nick Moore, Alan F. Rubin, Douglas M. Fowler, Maitreya J. Dunham   +13 more
doaj   +1 more source

Lysine l‐Lactylation: Bridging Metabolism, Chromatin and Disease

Cell Proliferation, Volume 59, Issue 8, August 2026.
Enzymatic regulation of KL‐la. The enzymatic regulation of KL‐la involves two distinct pathways for L‐lactate accumulation: intracellular production through glycolysis‐derived pyruvate conversion by lactate dehydrogenase (LDH) or direct cellular uptake via monocarboxylate transporters (MCTs). These L‐lactate pools fuel two distinct lactylation pathways—
Anoosha Malik, Muhammad Dilawar, Junguang Liao, Jie Zheng, Qitao Qian, Ming Xu, Sisi Lin, Xiaobo Zhu, Qiuwei Ge, Limin Jin, Guiqian Chen   +10 more
wiley   +1 more source

Short‐Course Low‐Dose Primaquine for Radical Cure in G6PD‐Normal Patients in the Pre‐Elimination Context of Nepal

Tropical Medicine &International Health, Volume 31, Issue 8, Page 1028-1034, August 2026.
ABSTRACT Background Plasmodium vivax remains a challenge for malaria elimination in Nepal due to its ability to relapse. Radical cure with primaquine is effective but limited by poor adherence to the standard 14‐day low‐dose regimen. In 2022, the WHO recommended administering the same total dose (3.5 mg/kg) over 7 days to improve adherence.
Prakash Ghimire, Gokarna Dahal, Nabaraj Adhikari, Komal Raj Rijal, Sanjib Adhikari, Megha Raj Banjara, Hellen Mnjala, Grant Lee, Sophie Weston, Angela Rumaseb, Anjana Rai, Benedikt Ley, Mohammad Sharif Hossain, Julie A. Simpson, Megha Rajasekhar, Bipin Adhikari, Ric N. Price, Bibek K. Lal, Kamala Thriemer   +18 more
wiley   +1 more source

G6PD deficiency [PDF]

Blood, 1994
openaire   +2 more sources

SPREAD OF THE GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANT (G6PD-MEDITERRANEAN) IN ONE OF THE COASTAL PROVINCES OF CASPIAN SEA IN IRAN [PDF]

Journal of Sciences, Islamic Republic of Iran, 2000
In order to explore the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency in one of the coastal provinces of the Caspian Sea (Mazandaran) in Iran, we have analysed the G6PD gene in 74 unrelated G6PD-deficient males (2-6 year children) with a ...
doaj  

Melatonin as a protector against endocrine disruption across tissues: A systematic review

Physiological Reports, Volume 14, Issue 15, August 2026.
Graphical Abstract showing the biological mechanisms by which melatonin protects tissues against endocrine disruption. Abstract Endocrine‐disrupting chemicals (EDCs) are widespread environmental pollutants that interfere with hormonal homeostasis and contribute to multisystem toxicity.
Clenie Isingizwe, Gaudence Ndinganire, Abdullateef Isiaka Alagbonsi   +2 more
wiley   +1 more source

Phylogeny and Origin of Glucose-6-Phosphate Dehydrogenase (G6PD) Defi ciency Mutations in Indonesia

Indonesian Journal of Biotechnology, 2015
The aim of this study is to analyze the relationship between the types of G6PD mutations found in Indonesia and the relationships of mutations found in Indonesia to those found in other countries.
Maria Omega, Ross T. Barnard
doaj