Results 151 to 160 of about 8,072 (166)

Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient

Clinica Chimica Acta, 2016
Thiamine-responsive megaloblastic anemia (TRMA), an autosomal recessive disorder, is caused by mutations in SLC19A2 gene encodes a high affinity thiamine transporter (THTR-1). The occurrence of TRMA is diagnosed by megaloblastic anemia, diabetes mellitus, and sensorineural deafness.
Paramasivam Manimaran, Veedamali S. Subramanian, Sellamuthu Karthi, Krishnan Gandhimathi, Perumal Varalakshmi, Ramasamy Ganesh, Andiappan Rathinavel, Hamid M. Said, Balasubramaniem Ashokkumar   +8 more
openaire   +2 more sources

Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis

American Journal of Physiology-Gastrointestinal and Liver Physiology, 2002
SLC19A2 is a membrane thiamine transporter expressed in a variety of human tissues, including the gastrointestinal tract. Little is currently known about the structure/function relationship of SLC19A2. We examined the effect of introducing mutations in SLC19A2 identical to those found in thiamine-responsive megaloblastic anemia syndrome (TRMA), on ...
Krishnaswamy, Balamurugan, Hamid M, Said
openaire   +2 more sources

Analysis of SLC19A2, on 1q23.3 Encoding a Thiamine Transporter as a Candidate Gene for Type 2 Diabetes Mellitus in Pima Indians

Molecular Genetics and Metabolism, 2001
Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia (TRMA) frequently combined with diabetes mellitus and deafness. Type 2 diabetes mellitus is heritable and a region on 1q21-q23 encompassing SLC19A2 was linked with the disease in Pima Indians and Caucasians.
F, Thameem, J K, Wolford, C, Bogardus, M, Prochazka   +3 more
openaire   +2 more sources

Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family With Thiamine-Responsive Megaloblastic Anemia

Laboratory Medicine, 2022
Samira Kalayinia, Serwa Ghasemi
exaly  

Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest

Pediatric Blood & Cancer, 2013
Vikas Dua, Satya P. Yadav, Vijay Kumar, Afaq Ahmed Khan, Ratna Puri, Ishwar C. Verma, Sarah E. Flanagan, Sian Ellard, Anupam Sachdeva   +8 more
openaire   +1 more source

Recovered Insulin Production After Thiamine Administration in Permanent Neonatal Diabetes Mellitus With a Novel Solute Carrier Family 19 Member 2 (SLC19A2) Mutation.

Journal of Diabetes, 2018
Chengjun Sun, Feihong Luo, Lin Yang
exaly  

Frameshift Variance in SLC19A2 Gene Causing Thiamine Responsive Megaloblastic Anemia (TRMA): A Case Report From Pakistan

International Journal of Diabetes in Developing Countries, 2020
Abdul Basit, Asher Fawwad, Mohsina Ibrahim   +2 more
exaly  

Homozygous pathogenic variant in SLC19A2 gene in two unrelated Lithuanians with thiamine responsive megaloblastic anemia

Background. Thiamine responsive megaloblastic anemia (TRMA) is a very rare autosomal recessive syndrome (prevalence <1/1.000.000), commonly presented in consanguineous families and characterized by the triad: megaloblastic anemia, progressive sensorineural deafness and non-type I diabetes mellitus.
Mackus, Lukas, Jašinskienė, Edita, Preikšaitienė, Eglė, Rutkauskaitė, Vilma, Rutkauskienė, Giedrė, Vaitkevičienė, Goda Elizabeta   +5 more
openaire   +1 more source

Thiamine Responsive Megaloblastic Anemia Syndrome: A Novel Homozygous SLC19A2 Gene Mutation Identified

American Journal of Medical Genetics, Part A, 2015
Eugenijus Lesinskas, Rasa Verkauskienė, Violeta Mikstiene   +2 more
exaly  

The Spectrum of Mutations, Including Four Novel Ones, in the Thiamine-Responsive Megaloblastic Anemia Gene SLC19A2 of Eight Families

Human Mutation, 2000
Marcos Borato Viana, Hanna Mandel, Jean-Michel Cayuela   +2 more
exaly