31.
Analysis of SLC19A2, on 1q23.3 Encoding a Thiamine Transporter as a Candidate Gene for Type 2 Diabetes Mellitus in Pima Indians
Thameem, Farook; Wolford, Johanna K; Bogardus, Clifton ...
Molecular genetics and metabolism,
04/2001, Letnik:
72, Številka:
4
Journal Article
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. We therefore investigated this candidate gene in selected diabetic and nondiabetic Pimas and found no variants. We conclude that mutations in SLC19A2 do not contribute to type 2 diabetes in this population.
več
Dostopno za:
GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
32.
A three-step programmed method for the identification of causative gene mutations of maturity onset diabetes of the young (MODY)
Li, Qian; Xi CaoauthorDepartment of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, ChinaBeijing Key Laboratory of Diabetes Research and Care, Beijing 100730, China; Hai-Yan QiuauthorDepartment of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China ...
2015
Journal Article
Naroči gradivo
33.
Dostopno za:
UL
34.
Dostopno za:
BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
35.
Dostopno za:
BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
36.
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified
Mikstiene, Violeta; Songailiene, Jurgita; Byckova, Jekaterina ...
American journal of medical genetics. Part A,
July 2015, Letnik:
167A, Številka:
7
Journal Article
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the ...
disease – megaloblastic anemia, early onset deafness, and non‐type I diabetes. TRMAS is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine transporter mediating vitamin B1 uptake through cell membrane has been identified. We present the first patient with TRMAS in Lithuania – a 3‐year‐old boy born to a non‐consanguineous family with a novel homozygous SLC19A2 gene mutation. The patient had insulin dependent diabetes (onset 11 months), respiratory illness (onset 11 months), bilateral profound hearing loss (onset at 7 months, verified at 20 months), refractory anemia (onset 2 years), and decreased vision acuity and photophobia (onset 2.5 years). The psychomotor abilities developed according to age. Phenotypic evaluation did not reveal any dysmorphic features. The clinical diagnosis of TRMAS was suspected and daily supplementation with thiamine 100 mg was started. The condition of the patient markedly improved several days after the initiation of treatment. The results of SLC19A2 gene molecular testing confirmed the clinical diagnosis – novel homozygous c.205G>T, p.(Val69Phe) mutation changing conserved amino acid residue or even interfering the mRNA splicing. Clinical heterogeneity, diverse dynamics, and wide spectrum of symptoms are aggravating factors in the diagnosis. The possibility of treatment demands early recognition of disorder to facilitate the improvement of the patient's condition. © 2015 Wiley Periodicals, Inc.
več
Dostopno za:
BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
