An induced pluripotent stem cell line (MUSIi019-A) generated from a patient with distal renal tubular acidosis carrying a compound heterozygous mutation in solute carrier family 4 member 1 (SLC4A1) gene.

Distal renal tubular acidosis (dRTA), a disease characterized by the failure of the distal nephron to secrete acid into the urine, can be caused by mutations in SLC4A1 gene encoding erythroid and kidney anion exchanger 1 (AE1). Here, an induced pluripotent stem cell (iPSC) line was generated from a patient with dRTA and hemolytic anemia carrying compound heterozygous SLC4A1 mutations containing c.1199_1225del (p.

Generation of an induced pluripotent stem cell line (MUSIi015-A) from a diabetic patient carrying mutations in ZYG11A (p.L475P) and GATA6 (p.E51K).

Two heterozygous mutations (p.L475P in ZYG11A and p.E51K in GATA6) were identified in a family with autosomal dominant diabetes.

Generation of an induced pluripotent stem cell line (MUSIi014-A) from an affected member of a family with autosomal dominant diabetes carrying p.L475P mutation in ZYG11A gene associated with a cell cycle arrest in beta-cell.

A heterozygous mutation (c.T1424C: p.L475P) in ZYG11A completely segregating with hyperglycemia in a Thai family with familial diabetes of the adulthood has been reported as a cause of cell cycle arrest in 1.

The Functional Polymorphism of rs9267551 Is an Independent Determinant of Arterial Stiffness.

The association of circulating asymmetric dimethylarginine (ADMA) levels with cardiovascular risk and arterial stiffness has been reportedly demonstrated, although the causal involvement of ADMA in the pathogenesis of these conditions is still debated. Dimethylaminohydrolase 2 (DDAH2) is the enzyme responsible for ADMA hydrolysis in the vasculature, and carriers of the polymorphism rs9267551 C in the 5'-UTR of have been reported to have higher expression and reduced levels of serum ADMA. We genotyped rs9267551 in 633 adults of European ancestry and measured their carotid-femoral pulse wave velocity (cfPWV), the gold-standard method to estimate arterial stiffness.

Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.

Context: Genes causing familial forms of diabetes mellitus are only partially known.

Objective: We set out to identify the genetic cause of hyperglycemia in multigenerational families with an apparent autosomal dominant form of adult-onset diabetes not due to mutations in known monogenic diabetes genes.

Methods: Existing whole-exome sequencing (WES) data were used to identify exonic variants segregating with diabetes in 60 families from the United States and Italy.

Autosomal dominant diabetes associated with a novel ZYG11A mutation resulting in cell cycle arrest in beta-cells.

Diabetes is a genetically heterogeneous disease, for which we are aiming to identify causative genes. Here, we report a missense mutation (c.T1424C:p.

Defective functions of HNF1A variants on BCL2L1 transactivation and beta-cell growth.

Maturity-onset diabetes of the young type 3 (MODY3) is caused by mutations in a gene encoding transcription factor hepatocyte nuclear factor 1-alpha (HNF1A). Although the roles of HNF1A in regulation of hepatic and pancreatic genes to maintain glucose homeostasis were investigated, the functions of HNF1A are not completely elucidated. To better understand the functions of HNF1A, we characterized mutations of HNF1A in Thai MODY3 patients and studied the functions of wild-type HNF1A and variant proteins.