Results 51 to 60 of about 8,072 (166)

Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa

Molecular Genetics and Metabolism Reports, 2020
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gene is
Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman   +6 more
doaj   +1 more source

Genetic Parameters and Genome‐Wide Association Studies for Fertility and Reproduction Traits in U.S. Katahdin Sheep Based on the Single‐Step GBLUP Methodology

Journal of Animal Breeding and Genetics, Volume 143, Issue 5, Page 625-638, September 2026.
ABSTRACT Sheep production contributes to a secure and diverse food and fibre supply in the United States, with growing ethnic diversity strengthening demand. Katahdin is a composite hair‐type sheep breed developed in the United States that has become the most popular breed in many regions of the country and the first one to have genomic selection ...
Alejandra Toro Ospina, Ronald M. Lewis, Bradley A. Freking, Joan M. Burke, Thomas W. Murphy, Carrie S. Wilson, Luiz F. Brito   +6 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis

BMC Pediatrics, 2019
Background Phenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded.
Yan Zhang, Yi Zhang, Victor Wei Zhang, Chunyi Zhang, Hongke Ding, Aihua Yin   +5 more
doaj   +1 more source

Effect of chronic exposure of pancreatic acinar 266-6 cells to NNK on activity of SLC19A2 and SLC19A3 promoters.

, 2013
Full-length SLC19A2 (A) and SLC19A3 (B) promoters in pGL3-Basic were transfected into 266-6 cells were exposed to 3 µM NNK for 24 h followed by determination of luciferase activity.
Veedamali S. Subramanian (452244), Padmanabhan Srinivasan (481324), Hamid M. Said (385809)   +2 more
core   +1 more source

Dietary thiamine influences L-asparaginase sensitivity in a subset of leukemia cells

, 2020
Tumor environment influences anticancer therapy response but which extracellular nutrients affect drug sensitivity is largely unknown. Using functional genomics, we determine modifiers of l-asparaginase (ASNase) response and identify thiamine ...
Williams, Robert T., Birsoy, Kivanc, Mestanoglu, Mert, Guarecuco, Rohiverth, La, Konnor, Passarelli, Maria C., Molina, Henrik, Baudrier, Lou, Alwaseem, Hanan, Fidelin, Justine, Ekizoglu, Naz, Garcia-Bermudez, Javier, Rostandy, Bety, La, Konnor C.   +13 more
core   +1 more source

Circular RNA circ_0003423 Promotes Osteoarthritis Progression by Sponging miR‐330‐5p to Upregulate TWIST1‐Mediated Chondrocyte Inflammation and Extracellular Matrix Degradation

Journal of Cellular and Molecular Medicine, Volume 30, Issue 13, July 2026.
ABSTRACT Osteoarthritis (OA) is a debilitating degenerative joint disease characterized by progressive articular cartilage destruction, persistent inflammation, and functional impairment. Circular RNAs (CireRNAs) have emerged as critical epigenetic regulators in OA pathogenesis; however, the precise functional role of Circ_0003423 in OA remains largely
Lei Zhang, Hua Wang, Shaoyang Liu, Jianjun Qiu, Yue Ding, Fei Wu   +5 more
wiley   +1 more source

Bioenhancer‐Driven Modulation of Membrane Dynamics Improves B‐Vitamin Uptake in Caco‐2 Cells

ChemFoodChem, Volume 2, Issue 2, June 2026.
Natural bioenhancers such as extracts from ginger, turmeric, black pepper, and spearmint increase the uptake of vitamins B1, B5, B6, and B7 in Caco‐2 cells. Micellized formulations further increase efficacy. These findings indicate that altered membrane fluidity contributes to enhanced cellular absorption, providing a new route to improve vitamin B ...
Verena Preinfalk, Bernhard Blank‐Landeshammer, Marina Bishara, Sigrid Ihninger, Katja Essl, Stefanie Atzmüller, Mara Heckmann, Marcus Iken, Mario Brameshuber, Julian Weghuber   +9 more
wiley   +1 more source

Effect of chronic exposure of transgenic mice carrying SLC19A2 and SLC19A3 promoters to NNK on the activity of these promoters.

, 2013
The activity of SLC19A2 (A) and SLC19A3 (B) promoters were determined as described in “Materials and Methods” and are presented as percentage relative to pair-fed controls.
Veedamali S. Subramanian (452244), Padmanabhan Srinivasan (481324), Hamid M. Said (385809)   +2 more
core   +1 more source

ACSL5 Regulates Glucose Metabolism and Chemotherapy Sensitivity in Colorectal Cancer Cells under Glutamine Deficiency

Advanced Science, Volume 13, Issue 7, 3 February 2026.
Glutamine deprivation triggers ACSL5 upregulation in tumor cells, sustaining their viability via dual metabolic rewiring programs. ACSL5 enhances glycolysis by relieving p53's inhibition of PGAM1 while also sustaining mitochondrial respiration and TCA cycle flux through promoting IDH2 dimerization.
Shuai Tian, Qiaoxia Zhang, Xuedan Sun, Rick Francis Thorne, Zeyuan Shi, Qiang Ji, Zhangran Sun, Yuanxiang Lu, Qun Zhao, Xianjun Yu, Wanglai Hu, Mian Wu   +11 more
wiley   +1 more source