Results 21 to 30 of about 565,186 (153)

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family With Thiamine-Responsive Megaloblastic Anemia

Cellular Physiology and Biochemistry, 2018
Background/Aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss ...
Fa-Quan Lin, Lin Liao, Yuanyuan Qin
exaly   +3 more sources

Diagnosis of a patient with severe sensorineural hearing loss as the initial symptom caused by novel compound heterozygous variant in SLC19A2 gene [PDF]

Brazilian Journal of Otorhinolaryngology
Objective: Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome, caused by biallelic variants in the SLC19A2 gene, typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss.
Yanan Shi, Junyang Li, Xiaoqin Chen, Niu Li, Sijie Yang, Youjin Li, Min Zhou   +6 more
doaj   +2 more sources

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. [PDF]

Gene, 2013
Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene.
Setoodeh A, Haghighi A, Saleh-Gohari N, Ellard S, Haghighi A.   +4 more
europepmc   +6 more sources

An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by an <i>SLC19A2</i> c.1223+1G>A Founder Mutation. [PDF]

Int J Mol Sci
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by biallelic loss of function variants in the SLC19A2 gene.
Gurzhikhanova M, Fomenko S, Chekanov N, Musharova O, Salimova T, Goronkova O, Abasov R, Raykina E, Zinchenko R, Sharova M, Khisamieva F, Imyanitov E, Sokolenko A, Klimuk E, Maschan A, Severinov K, Maschan M.   +16 more
europepmc   +2 more sources

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia. [PDF]

Hum Mutat, 2017
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations.
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG.   +33 more
europepmc   +2 more sources

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.

Acta Haematol
Introduction: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive disease with a homozygous or compound-heterozygous mutation in the SLC19A2 gene characterized by megaloblastic anemia, diabetes mellitus (DM), and sensorineural hearing loss with onset in childhood.
Klötzer C, Schnabel F, Kubasch AS, Jentzsch M, Franke GN, Uhlig J, Faust H, Jauss RT, Oppermann H, Popp D, Metzeler KH, Lemke JR, Vučinić V, Platzbecker U.   +13 more
europepmc   +3 more sources

Thiamine-Responsive Megaloblastic Anemia

Nutrition Reviews, 2009
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in
Lulu, Mathews, K, Narayanadas, G, Sunil
openaire   +4 more sources

Vitomics: A novel paradigm for examining the role of vitamins in human biology

BioEssays, Volume 45, Issue 12, December 2023., 2023
I advocate for an integrated model called “vitomics,” defined as vitamin‐related actions adapting an organism's metabolism/biology to a specific environmental condition(s) within, across and beyond the lifecycle. This does not preclude classic vitamin roles, but generally reflects a wider “systems biology” influence, embracing environmental/genetic ...
Mark D. Lucock
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2023/24: Transporters

British Journal of Pharmacology, Volume 180, Issue S2, Page S374-S469, October 2023., 2023
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander, Doriano Fabbro, Eamonn Kelly, Alistair A. Mathie, John A. Peters, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +27 more
wiley   +1 more source

A Rare Case of Thiamine Responsive Megaloblastic Anemia Presenting with Seizures [PDF]

, 2021
Thiamine responsive megaloblastic anemia (TRMA) also known as Rogers syndrome is a rare entity inherited as an autosomal recessive disorder. It consists of a pentad of diabetes-mellitus, megaloblastic anemia, thrombocytopenia, leukopenia and sensory ...
Hassan, Muhammad, Inayat, Tehmina, Shahzad, Waleed, Khan, Naveed Ullah, Syed, Fibhaa, Badshah, Mazhar, Iqbal, Mansoor   +6 more
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