Heterozygous t674c mutation in the proband leads to heterozygous L225P point mutation. B: On-cell current relative to maximal ... Comparison with other NDM-causing mutations in SUR1.. Two reports have identified three SUR1 mutations associated with PNDM ( ... associated F132L mutation (11). Although the number of NDM-associated SUR1 mutations is still relatively small, thus far it ... associated KATP mutations are localized to Kir6.2, recent studies have now described such mutations in SUR1 (11,12). Here we ...

A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young. Tohoku J Exp Med 2011;223:113-118pmid: ... A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. Diabetes 2001;50:2864-2869pmid: ... PAX4 mutation (R121W) as a prodiabetic variant in Okinawans. Biochem Biophys Res Commun 2003;302:342-344pmid:12604352. ... Mutations and polymorphisms in the pax4 gene have been associated with both type 1 and type 2 diabetes in several populations, ...

Recently, insulin receptors with a mutation where Ala1134 is replaced by Thr in the tyrosine kinase domain of the β-subunit ... Moller DE, Yokota A, White MF, Pazianos AG, Flier JS: A naturally occurring mutation of insulin receptor alanine 1134 impairs ... Humans with the Thr1134 mutation are insulin resistant. We performed metabolic and vascular characterization of this model. ... Moller DE, Benecke H, Flier JS: Biologic activities of naturally occurring human insulin receptor mutations: evidence that ...

Mutation analysis identified a potential disease-causing mutation, delSer1387 in exon 34 of SUR1. Coexpression of the ... It was noted that this potential disease-causing delSer1387 mutation is immediately adjacent to the delPhe1388 mutation that ... and in a second child we have identified with the Ser1387Phe mutation, surgery revealed diffuse disease, but no second mutation ... SUR1 mutation expression.. Plasmids containing human Kir6.2 and hamster SUR1 cDNA plus and minus a myc epitope were used as ...

Greco TL, Takada S, Newhouse MM, McMahon JA, McMahon AP, Camper SA: Analysis of the vestigial tail mutation demonstrates that ... Heston WE: The "vestigial tail: mouse: a new recessive mutation. J Hered42 :71 -74,1951. ...

For this model, we used the BKS.Cg-m+/+Leprdb/J strain, in which the db/db mutation is placed on the highly diabetes-prone ... On this background, the db/db mutation results in diabetes. Blood glucose was measured by tail snip in fed state at 10:00 a.m. ... Leiter EH, Coleman DL, Hummel KP: The influence of genetic background on the expression of mutations at the diabetes locus in ...

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. Am J Hum Genet 2011;89:464 ...

INS-gene mutations: from genetics and beta cell biology to clinical disease. Mol Aspects Med 2015;42:3-18. ... Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes 2008;57:1131-1135. ... Insulin gene mutations and posttranslational and translocation defects: associations with diabetes. Endocrine 2020;70:488-497. ... The substitution proinsulin-R(B22)E is known to yield a bioactive insulin, although R(B22)Q has been reported as a mutation ...

A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science 2004;304:1325-1328pmid:15166380. ...

Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic ... Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic ... Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic ... Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic ...

Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic ... Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic ... Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic ... Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic ...

Mutations in the SHIP2 gene are associated with type 2 diabetes. Here, we used hyperglycemic and hyperinsulinemic KKAy mice to ... NM_001567) was amplified from HepG2-derived cDNA samples and cloned into the pCR2.1-TOPO (Invitrogen, Carlsbad, CA). Mutation ... Activating mutations in the SHIP2 gene contribute to the genetic susceptibility to type 2 diabetes in humans (4). Mice lacking ...

Increased mtDNA mutations have been reported in type 2 diabetic patients (50). One source of injury to mtDNA could be reactive ... Mitochondrial DNA mutations in human degenerative diseases and aging. Biochimica Biophysica Acta1271 :141 -151,1995. ... it is more likely to develop acquired mutations, as has been reported for skeletal muscle in aging (48,49). ...

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. J Clin Endocrinol ...

Phillips MS, Liu Q, Hammond HA, Dugan V, Hey PJ, Caskey CJ, Hess JF: Leptin receptor missense mutation in the fatty Zucker rat ... Obesity develops as a result of a recessive mutation in the gene for the leptin receptor (4). By 4-5 weeks of age, obese rats ...

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U ... Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome. Am J Hum ...

OBJECTIVE Inactivating mutations in glucokinase (GCK) cause mild fasting hyperglycemia. Identification of a GCK mutation has ... The mutation maps to a potential transcriptional activator binding site for Sp1. Reporter assays demonstrated that the mutation ... This mutation was not identified in ,400 ethnically matched normal chromosomes. Family testing demonstrated that the mutation ... The GCK mutation status is shown under each symbol. Individuals V:9 (SK R78 family) and I:2 (SK R25 family) are diabetic ...

Subject A2 had a novel mutation in the acceptor splice site of intron 6 (cDNA:1016/-2 A→C). A mutation previously found near ... and there was a noncoding mutation in the seipin gene in this pedigree, as the mutation screen (see below) did not cover ... sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in ... In conclusion, novel mutations in the seipin gene (W259X and cDNA:1,016/-2 A→C) were identified in three of five CGL subjects ...

Identification of a Point Mutation in the Human Insulin Gene Giving Rise to a Structurally Abnormal Insulin (Insulin Chicago) ...

Cao H, Hegele RA: Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum ...

Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. F ... Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia ...

The frequency of HLA class II genotypes in 32 individuals with a defined mutation in KCNJ11 and in 155 negative for mutations ... such as heterozygous-activating KCNJ11 mutations (6) and homozygous glucokinase mutations (20). In contrast, there is evidence ... These data, including mutation status, country of origin, HLA data, and age at diagnosis, are available in an online appendix ( ... 32 with KCNJ11 mutations and 155 in whom mutations have been excluded. ...

9) and Coleman and Hummel (14) have shown that when mutations in leptin found in the ob/ob mouse are bred into different ... It is possible that the almost complete lack of disease in the 129Sv mice that carry the same mutation indicates the presence ... The introduction of the IR/IRS-1 mutation led to striking hyperinsulinemia and hyperglycemia in the DH mice on the B6 and DBA ... Furthermore, the lack of sequence variations in the IR or IRS-1 rules out the possibility of functional mutations in the early ...

In support of these functions, rare mutations in the GCK gene have been found to be associated with maturity-onset diabetes of ... Gloyn AL: Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal ...

The mutation at the area (−318 to −302) exhibited no change of the promoter activity in response to high glucose as compared ... In contrast, the mutation at the area (−339 to −327) showed slightly higher promoter activity than the wild type in the cells ... Furthermore, the mutation at the area (−537 to -524) showed only a 1.5-fold increase of the promoter activity in response to ... Jiang X-C, Bruce C, Mar J, Lin M, Ji Y, Francone OL, Tall AR: Targeted mutation of plasma phospholipid transfer protein gene ...

... identifying a mutation causing lower gene expression in diabetic mice. Moreover, Timp3 is among the few genes downregulated in ...

... may develop in some of the patients with genetic mutations in the insulin receptor (IR) supports an important role for ...

In these contexts, it is relevant that both Fischer rats with mutations in the catalytic site and mice with a targeted deletion ...

Genomic structure and mutations in adipose-specific gene, adiponectin. Int J Obes Relat Metab Disord 24 : 861 -868,2000. ...

4A), we speculate that a similar function should exist in humans and that mutations in this regulatory region should have a ... whereas serine 727 mutation abolished the inhibition (Fig. 4D). Quantitative RT-PCR analysis of mRNA confirmed that STAT3 CA or ...