Results 31 to 40 of about 8,072 (166)
Identification and Verification of Hub Mitochondrial Dysfunction Genes in Osteoarthritis Based on Bioinformatics Analysis [PDF]
Journal of Immunology ResearchObjective. Age-related mitochondrial dysfunction and associated oxidative stress may contribute to the development of osteoarthritis. The aim of this study was to identify hub genes associated with mitochondrial dysfunction in osteoarthritis (OA ...
Hui Niu +8 more
doaj +2 more sources
Indian Journal of Health Sciences and Biomedical Research (KLEU), 2018 Reporting a rare and treatable case of thiamine responsive Megaloblastic Anemia with Sensori-neural Hearing Loss with Diabetes Mellitus in a 6 year old child due to SLC19A2 mutation. Simple thiamine treatment is cost effective and can reverse this disorder except hearing loss.
Tanmaya Metgud +4 more
openaire +2 more sources
Frontiers in Pediatrics, 2021 Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in SLC19A2. Some cases show familial inheritance.Case report: A female patient (from a gravida 1, para 1 mother) of 3.5
Pengjiang Kang +5 more
doaj +1 more source
Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2022 Purpose In patients diagnosed with diabetes mellitus (DM) before the age of 12 months, there is an increasing recognition of diabetes caused by single-gene mutations, also known as monogenic diabetes of infancy or neonatal DM (NDM).
Yasmine Abdelmeguid +4 more
doaj +1 more source
Thiamine-responsive megaloblastic anemia syndrome: A case report
Journal of Diabetology, 2020 Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder characterized by a cardinal triad consisting of megaloblastic anemia, sensorineural deafness, and diabetes mellitus.
Omkar Patil +5 more
doaj +1 more source
PIK-III-Mediated Elevation of Thiamine Re-Sensitises Renal Cell Carcinoma to Cuproptosis via Activating PDHA1. [PDF]
Cell ProlifPIK‐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.
Xie D +8 more
europepmc +2 more sources
iScience, 2022 Summary: Thiamine (vitamin B1) is an essential micronutrient. Genes involved in thiamine metabolisms, such as SLC19A2, SLC35F3, and SLC35F4, were assumed to be underlying positive selection in East Asians, but the detailed mechanism remains unknown. Here,
Xixian Ma, Shuhua Xu
doaj +1 more source
Min pig skeletal muscle response to cold stress.
PLoS ONE, 2022 The increased sensitivity of pigs to ambient temperature is due to today's intensive farming. Frequent climate disasters increase the pressure on healthy pig farming.
Dongjie Zhang +6 more
doaj +2 more sources
Chronic Nicotine Exposure In Vivo and In Vitro Inhibits Vitamin B1 (Thiamin) Uptake by Pancreatic Acinar Cells. [PDF]
PLoS ONE, 2015 Thiamin (vitamin B1), a member of the water-soluble family of vitamins, is essential for normal cellular functions; its deficiency results in oxidative stress and mitochondrial dysfunction.
Padmanabhan Srinivasan +6 more
doaj +1 more source
A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia [PDF]
International Journal of Pediatric Endocrinology, 2015 Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents.
Tahir, Sophia +5 more
openaire +2 more sources