The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus

[1]  J. Roland,et al.  Adolescent onset Type 2 diabetes in a non‐obese Caucasian patient with an unbalanced translocation , 2003, Diabetic medicine : a journal of the British Diabetic Association.

[2]  T. Sanke,et al.  Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. , 2002, The Journal of clinical endocrinology and metabolism.

[3]  A. Hattersley,et al.  Maturity-Onset Diabetes of the Young Caused by a Balanced Translocation Where the 20q12 Break Point Results in Disruption Upstream of the Coding Region of Hepatocyte Nuclear Factor-4α (HNF4A) Gene , 2002 .

[4]  C. Dina,et al.  Genome-wide search for type 2 diabetes in Japanese affected sib-pairs confirms susceptibility genes on 3q, 15q, and 20q and identifies two new candidate Loci on 7p and 11p. , 2002, Diabetes.

[5]  Tom H. Lindner,et al.  Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus , 2000, Nature Genetics.

[6]  C. Dina,et al.  The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes , 2000, Nature Genetics.

[7]  S. Snyder,et al.  Synthesis of diphosphoinositol pentakisphosphate by a newly identified family of higher inositol polyphosphate kinases , 1999, Current Biology.

[8]  Marc Montminy,et al.  Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus , 1999, Nature Genetics.

[9]  Johan Auwerx,et al.  A Pro12Ala substitution in PPARγ2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity , 1998, Nature Genetics.

[10]  V. van Heyningen,et al.  Position effect in human genetic disease. , 1998, Human molecular genetics.

[11]  P. Boutin,et al.  A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus. , 1998, The Journal of clinical investigation.

[12]  D. Nižetić,et al.  Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. , 1998, Genomics.

[13]  R. Gomis,et al.  Mutation in the calcium-binding domain of the mitochondrial glycerophosphate dehydrogenase gene in a family of diabetic subjects. , 1997, Biochemical and biophysical research communications.

[14]  J. Carey,et al.  Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. , 1996, American journal of human genetics.

[15]  J. D. den Dunnen,et al.  Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region. , 1996, American journal of human genetics.

[16]  S. Snyder,et al.  Purified inositol hexakisphosphate kinase is an ATP synthase: diphosphoinositol pentakisphosphate as a high-energy phosphate donor. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[17]  M. Laakso,et al.  Insulin receptor substrate-1 variants in non-insulin-dependent diabetes. , 1994, The Journal of clinical investigation.

[18]  M. Permutt,et al.  Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients , 1994, Diabetologia.

[19]  J. Olefsky,et al.  Analysis of the gene sequences of the insulin receptor and the insulin-sensitive glucose transporter (GLUT-4) in patients with common-type non-insulin-dependent diabetes mellitus. , 1991, The Journal of clinical investigation.

[20]  P. Schwarz,et al.  Mapping genes influencing type 2 diabetes risk and BMI in Japanese subjects. , 2003, Diabetes.

[21]  B. Zinman,et al.  HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community. , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[22]  A. Hattersley,et al.  Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene. , 2002, Diabetes.

[23]  C. Dina,et al.  Genome-Wide Search for Type 2 Diabetes in Japanese Affected Sib-Pairs Confirms Susceptibility Genes on 3 q , 15 q , and 20 q and Identifies Two New Candidate Loci on 7 p and 11 p , 2002 .

[24]  N. Nomura,et al.  Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. , 1996, DNA research : an international journal for rapid publication of reports on genes and genomes.