Results 131 to 140 of about 2,699,597 (146)

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

Novel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia (Rogers’ syndrome)

2012
Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA.  This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive ...
Ghaemi, Nosrat, Ghahraman, Martha, Abbaszadegan, Mohammad Reza, Vakili, Rahim   +3 more
openaire   +1 more source

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G

Pediatric Diabetes, 2016
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR-1). TRMA has been reported in less than 80 cases worldwide. Here, we illustrate 2 female patients with
Renata, Pomahačová, Jana, Zamboryová, Josef, Sýkora, Petra, Paterová, Karel, Fiklík, Tomáš, Votava, Zdeňka, Černá, Petr, Jehlička, Václav, Lád, Ivan, Šubrt, Jiří, Dort, Eva, Dortová   +11 more
openaire   +2 more sources

Clinical profile and thiamine transporter gene (SLC19A2 and SLC19A3) variations in infants with thiamine-responsive pulmonary hypertension and acute respiratory infection

Journal of Tropical Pediatrics
Abstract Maternal thiamine deficiency is prevalent in low- and middle-income countries. Thiamine-responsive pulmonary hypertension (TRPHTN) in exclusively breastfed infants is reported in India. Thiamine transporter gene (ThTR) variations have not been studied.
Swathi Shenoy, Vijaya Kumar Deekshit, Swathi Sunil Rao, Prathibha Shankar Ashwini, Rathika Damodara Shenoy   +4 more
openaire   +2 more sources

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

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  

Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS)

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2005
Irene, Guerrini, Allan D, Thomson, Cristopher C H, Cook, Andrew, McQuillin, Vishal, Sharma, Michael, Kopelman, Gerald, Reynolds, Pramod, Jauhar, Clive, Harper, Hugh M D, Gurling   +9 more
openaire   +2 more sources

Importance of Immediate Thiamine Therapy in Children With Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

Journal of Pediatric Genetics, 2022
Elisa De Franco, Natasa Rojnic Putarek, Ervina Bilic   +2 more
exaly  

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  

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