Results 91 to 100 of about 8,072 (166)

CONDIÇÃO PORFIRIA-LIKE EM PACIENTE COM DOENÇA FALCIFORME: UM DESAFIO CLÍNICO MULTISSISTÊMICO

Hematology, Transfusion and Cell Therapy
Introdução: A Porfiria Cutânea Tarda (PCT) é a forma mais comum das porfirias e caracteriza-se por fotossensibilidade cutânea, fragilidade da pele e formação de bolhas, principalmente em áreas foto expostas.
Ana Maria Mach QUEIROZ, Adriane Affonso LIMA, Andre BAIMA, Renata De Souza CRAVO, Cibele FRANZ   +4 more
doaj   +1 more source

Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families

, 2006
Aim: Thiamine-responsive megaloblastic anaemia syndrome (TRMA) is the association of diabetes mellitus, anaemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein.
Ricketts, Christopher, Ricketts, CJ, Wales, JK, Ariyawansa, I, Minton, JA, Lo, IF, Barrett, TG, Barrett, Timothy; id_orcid, Samuel, J   +8 more
core   +1 more source

Thiamine-responsive megaloblastic anemia in two Ingush siblings with a homozygous <i>SLC19A2</i> c.1223+1G>A variant

Thiamine-responsive megaloblastic anemia (Rogers syndrome; OMIM #249270) is a rare autosomal recessive disorder caused by pathogenic variants in the SLC19A2 gene, which encodes the high-affinity thiamine transporter type 1.
Medina Kh. Gurzhikhanova, O. V. Goronkova, A. A. Maschan, M. A. Maschan, T. Yu. Salimova, E. V. Raykina   +5 more
core   +1 more source

Thiamine-responsive megaloblastic anemia syndrome

, 2010
Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early
Hizli, Samil, KESKİN, MEHMET, Samil Hizli, Mehmet Keskin, Alper Dai, Fatma Gumruk, Uygun, Hatice, Dai, Alper, Hatice Uygun, GÜMRÜK, FATMA, Ali Bay, Bay, Ali, Keskin, M, Uygun, H, Dai, A, Bay, A, Gumruk, F   +16 more
core   +1 more source

Whole-exome sequencing in Russian children with non-type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY-related and unrelated genes

, 2019
The present study reports on the frequency and the spectrum of genetic variants causative of monogenic diabetes in Russian children with non-type 1 diabetes mellitus.
Dmitrii Polev, Olga Romanova, Anastasiia Petrovskaia‑Kaminskaia, Olga Efimova, Yury Barbitoff, Elena Bashnina, Sergey Scherbak, Alena Tiselko, Anna Pendina, Rostislav Skitchenko, Liubov Lonishin, Ludmila Tyrtova, Evgenii Suspitsin, Vladislav Baranov, Andrey Sarana, Oleg Glotov, Olga Berseneva, Liliya Ditkovskaya, Alexander Predeus, Natalia Shved, Elena Serebryakova, Andrey Glotov, Liudmila Zhelenina, Yulia Nasykhova, Mikhail Fedyakov, Irina Polyakova, Ekaterina Musina, Elena Shabanova, Tatyana Ivashchenko, Mariia Turkunova, Petrovskaia-Kaminskaia, Anastasiia V, Berseneva, Olga S, Nasykhova, Yulia A, Predeus, Alexander V, Glotov, Andrey S, Ditkovskaya, Liliya V, Shved, Natalia Y, Shabanova, Elena S, Zhelenina, Liudmila A, Fedyakov, Mikhail A, Suspitsin, Evgenii N, Serebryakova, Elena A, Sarana, Andrey M, Bashnina, Elena B, Efimova, Olga A, Polyakova, Irina V, Skitchenko, Rostislav K, Barbitoff, Yury A, Lonishin, Liubov R, Ivashchenko, Tatyana E, Turkunova, Mariia E, Glotov, Oleg S, Baranov, Vladislav S, Polev, Dmitrii E, Pendina, Anna A, Tyrtova, Ludmila V, Scherbak, Sergey G, Musina, Ekaterina V, Tiselko, Alena V, Romanova, Olga V   +59 more
core   +1 more source

Comparison of thiamine transporter expression and thiamine metabolites in human kidney cells and HK-2 cell line.

, 2013
a. SLC19A2 and SLC19A3 mRNA. Key: HK-2 cells (hollow bars) and human kidney cortex (filled bars). The bar for SLC19A3 mRNA in HK-2 cells is 122-fold lower than for human kidney cortex. b. Cellular metabolites of thiamine.
Naila Rabbani (291722), Lisa Godfrey (291719), Paul J. Thornalley (291723), Fang Zhang (197215), Guerman Molostvov (291720), James R. Larkin (291717), Daniel Zehnder (291721)   +6 more
core   +1 more source

Membrantransport von Thiamin im menschlichen Körper

Thiamine (vitamin B$_1$) is an essential coenzyme for central metabolic pathways. Metazoans, including humans, have to take up thiamine via the solute carriers SLC19A2 and SLC19A3, because they lost the ability to synthesize thiamine de novo ...
Loew, Christian, Gabriel, Florian
core   +1 more source

Integrative Genetic and Transcriptomic Analysis Reveals Candidate Molecular Differences Among Dementia with Lewy Bodies, Alzheimer's Disease, and Parkinson's Disease Dementia. [PDF]

Int J Mol Sci
Öztan G, İşsever T, İşsever H.
europepmc   +1 more source

Exploring the bioavailability and bioactivity of thiamine versus allithiamine: studies in <i>Drosophila melanogaster</i> and mice. [PDF]

Front Nutr
Nevermann S, Weiß H, Fischer A, Lüersen K, Chikamoto K, Nakata D, Ishida Y, Furune T, Terao K, Rimbach G.   +9 more
europepmc   +1 more source

LncRNA like NMRK2 mRNA functions as a key molecular scaffold to enhance mitochondrial respiration of NONO-TFE3 rearranged renal cell carcinoma in an NAD⁺ kinase-independent manner. [PDF]

J Exp Clin Cancer Res, 2023
Chen Y, Lu Y, Yang L, Ma W, Dong Y, Zhou S, Liu N, Gan W, Li D.   +8 more
europepmc   +1 more source