Results 31 to 40 of about 2,699,597 (146)

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice [PDF]

Human Molecular Genetics, 2002
Thiamin-responsive megaloblastic anemia syndrome (TRMA) is characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Mutations in the thiamin transporter gene SLC19A2 cause TRMA. To generate a mouse model of TRMA, we developed an Slc19a2 targeting construct using transposon-mediated mutagenesis and disrupted the gene through ...
Kimihiko, Oishi, Susanna, Hofmann, George A, Diaz, Tartania, Brown, Deepa, Manwani, Lily, Ng, Randy, Young, Helen, Vlassara, Yiannis A, Ioannou, Douglas, Forrest, Bruce D, Gelb   +10 more
openaire   +3 more sources

Changes in the gut microbiome, metabolic pathways, and intestinal gene expression during the peak, mid, and decline egg production phases in laying hens. [PDF]

Poult Sci
The decline in egg production due to aging poses a significant challenge for the egg industry. This study investigated the cecal microbiota, predicted metabolic pathways, and ileal gene expression to clarify how gut health, nutrient availability, and ...
Shahid MAH, Jha R, Mishra B.
europepmc   +2 more sources

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

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

BMC Pediatrics, 2019
Abstract Background Phenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded. Meanwhile, earlier knowledge says patients who suffered from two kinds of different Mendelian disease are very rare.
Yan Zhang, Yi Zhang, Victor Wei Zhang, Chunyi Zhang, Hongke Ding, Aihua Yin   +5 more
openaire   +3 more sources

Phospholipid scrambling induced by an ion channel/metabolite transporter complex. [PDF]

Nat Commun
Cells establish the asymmetrical distribution of phospholipids and alter their distribution by phospholipid scrambling (PLS) to adapt to environmental changes.
Niu H, Maruoka M, Noguchi Y, Kosako H, Suzuki J.   +4 more
europepmc   +2 more sources

Identification and Verification of Hub Mitochondrial Dysfunction Genes in Osteoarthritis Based on Bioinformatics Analysis. [PDF]

J Immunol Res
Objective. 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 ...
Niu H, Deng X, Zhang Q, Zhao Y, Wen J, Li W, Liu H, Guo X, Wu C.   +8 more
europepmc   +2 more sources

Thiamine responsive megaloblastic Anemia and deafness: A rare case of Roger's syndrome with successful hearing rehabilitation by cochlear implantation. [PDF]

J Otol
Thiamine responsive megaloblastic anemia (TRMA), also known as Roger's syndrome, is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests
Marfatia H, Sahai A, Narkhede K, Sharma M.   +3 more
europepmc   +2 more sources

Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report

, 2017
Background. Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus.
Koker, Sultan Aydin, Tunc, Selma, Ay, Yilmaz, Korkmaz, Huseyin A., Karapinar, Tuba H., Ozkan, Behzat, Katipoglu, Nagehan, Oymak, Yesim, Vergin, Canan, Nalbantoglu, Ozlem, Yildiz, Melek, Hazan, Filiz, DEMİR, KORCAN   +12 more
core   +1 more source

A review of xenobiotic membrane transporter expression within the human placenta: Lessons gained from primary tissue and in vitro methodologies

The Journal of Physiology, EarlyView.
Abstract figure legend A summary of the current knowledge around membrane transporter expression in the most widely used in vitro models of human trophoblasts, including primary placental tissue, cancer cell lines and trophoblast stem cells, as well as the techniques to attempt to mimic the human placenta in vivo.
Rhiannon Pass, Kathryn Wolton, Amanda N. Sferruzzi‐Perri   +2 more
wiley   +1 more source

Validation of gene expression.

, 2019
Dose-dependent effects of gamma and proton radiation on Aen, Cdkn1a, Ephx1 and Slc19a2 expression in aorta, kidney, lung and heart. Gene expression was measured by quantitative RT-PCR.
Jenine K. Sanzari (306909), Ann R. Kennedy (306913), Dimitra Sarantopoulou (6320906), Emanuela Ricciotti (2020690), Tilo Grosser (265007), Amber J. Kiliti (6320912), Gregory R. Grant (4109659), Gabriel S. Krigsfeld (6320909)   +7 more
core   +1 more source