Results 31 to 40 of about 563,023 (137)

A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine‐responsive megaloblastic anaemia, diabetes and deafness syndrome [PDF]

British Journal of Haematology, 2001
Thiamine‐responsive megaloblastic anaemia (TRMA) syndrome with diabetes and deafness was found in two patients from a Tunisian kindred. The proband was homozygous for a novel mutation, 287delG, in the high‐affinity thiamine transporter gene, SLC19A2. We demonstrated that fibroblasts from this patient exhibited defective thiamine transport.
S, Gritli, S, Omar, E, Tartaglini, S, Guannouni, J C, Fleming, M P, Steinkamp, C I, Berul, R, Hafsia, S B, Jilani, A, Belhani, M, Hamdi, E J, Neufeld   +11 more
openaire   +2 more sources

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I [PDF]

Journal of Medical Genetics, 2000
The thiamine transporter geneSLC19A2 was recently found to be mutated in thiamine responsive megaloblastic anaemia with diabetes and deafness (TRMA, Rogers syndrome), an early onset autosomal recessive disorder. We now report a novel G1074A transition mutation in exon 4 of theSLC19A2 gene, predicting a Trp358 to ter change, in a girl with ...
C, Scharfe, M, Hauschild, T, Klopstock, A J, Janssen, P H, Heidemann, T, Meitinger, M, Jaksch   +6 more
openaire   +2 more sources

Novel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases

Journal of Clinical Research in Pediatric Endocrinology, 2013
Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss. Mutations in the thiamine transporter gene, solute carrier family 19, member 2 (SLC19A2), have been associated with TRMA.
Ghaemi, Nosrat, Ghahraman, Martha, Abbaszadegan, Mohammad Reza, Baradaran-Heravi, Alireza, Vakili, Rahim   +4 more
openaire   +2 more sources

Mutation testing on an object-oriented framework: An experience report [PDF]

, 2011
This is the preprint version of the article - Copyright @ 2011 ElsevierContext The increasing presence of Object-Oriented (OO) programs in industrial systems is progressively drawing the attention of mutation researchers toward this paradigm.
Sergio Segura, Segura, S, Benavides, D, Antonio Ruiz-Cortés, Ruiz Cortés, Antonio, Segura Rueda, Sergio, Robert M. Hierons, Benavides Cuevas, David Felipe, Hierons, Robert M., David Benavides, Hierons, RM, Ruiz-Cortes, A   +11 more
core   +1 more source

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

, 2009
OBJECTIVE: To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine-responsive megaloblastic anemia, online Mendelian inheritance in man, no.
L. Mathews, A. Bagg, E. Hexner, M. L. Ribeiro, I. Sahai, A. K. Bergmann, E. J. Neufeld, BORGNA, Caterina, L. Fabris, J. Fleming, K. J. Wierenga, J. F. Falcone, R. Casey   +12 more
core   +2 more sources

A comparative study of adaptive mutation operators for metaheuristics [PDF]

, 2009
Genetic algorithms (GAs) are a class of stochastic optimization methods inspired by the principles of natural evolution. Adaptation of strategy parameters and genetic operators has become an important and promising research area in GAs.
Yang, S, Li, C, Korejo, I
core   +5 more sources

Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China

Journal of Diabetes Research, 2016
Aims. To study the clinical features, genetic etiology, and the correlation between phenotype and genotype of neonatal diabetes mellitus (NDM) in Chinese patients. Methods.
Bingyan Cao, Chunxiu Gong, Di Wu, Chaoxia Lu, Fang Liu, Xiaojing Liu, Yingxian Zhang, Yi Gu, Zhan Qi, Xiaoqiao Li, Min Liu, Wenjing Li, Chang Su, Xuejun Liang, Mei Feng   +14 more
doaj   +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

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

PIK‐III‐Mediated Elevation of Thiamine Re‐Sensitises Renal Cell Carcinoma to Cuproptosis via Activating PDHA1

Cell Proliferation, Volume 59, Issue 3, March 2026.
PIK‐III enhancing the efficacy of cuproptosis to kill renal cancer cells through dysregulating thiamine metabolism and dephosphorylation of pyruvate dehydrogenase complex E1 (PDHA1), providing a potential option for treatment of cuproptosis‐resistant renal cancer by the combination of PIK‐III and elesclomol.
Dongdong Xie, Yu Wang, Wenjie Cheng, Minbo Yan, Kunyu Li, Xiang Wu, Jiaqing Wu, Zhuangzhuang Zhang, Yingbo Dai   +8 more
wiley   +1 more source