PubMed

A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.

Shimajiri Y, Sanke T, Furuta H, Hanabusa T, Nakagawa T, Fujitani Y, Kajimoto Y, Takasu N, Nanjo K.

Diabetes. 2001 Dec;50(12):2864-9.PMID: 11723072 [PubMed - indexed for MEDLINE]Related articlesFree article

PAX4 mutation (R121W) as a prodiabetic variant in Okinawans.

Shimajiri Y, Shimabukuro M, Tomoyose T, Yogi H, Komiya I, Takasu N.

Biochem Biophys Res Commun. 2003 Mar 7;302(2):342-4.PMID: 12604352 [PubMed - indexed for MEDLINE]Related articles

Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4.

Kanatsuka A, Tokuyama Y, Nozaki O, Matsui K, Egashira T.

Metabolism. 2002 Sep;51(9):1161-5.PMID: 12200761 [PubMed - indexed for MEDLINE]Related articles

Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history.

Shimomura H, Sanke T, Hanabusa T, Tsunoda K, Furuta H, Nanjo K.

Diabetes. 2000 Sep;49(9):1597-600.PMID: 10969846 [PubMed - indexed for MEDLINE]Related articlesFree article

PAX4 gene variations predispose to ketosis-prone diabetes.

Mauvais-Jarvis F, Smith SB, Le May C, Leal SM, Gautier JF, Molokhia M, Riveline JP, Rajan AS, Kevorkian JP, Zhang S, Vexiau P, German MS, Vaisse C.

Hum Mol Genet. 2004 Dec 15;13(24):3151-9. Epub 2004 Oct 27.PMID: 15509590 [PubMed - indexed for MEDLINE]Related articlesFree article

The Arg121Trp variant in PAX4 gene is associated with beta-cell dysfunction in Japanese subjects with type 2 diabetes mellitus.

Tokuyama Y, Matsui K, Ishizuka T, Egashira T, Kanatsuka A.

Metabolism. 2006 Feb;55(2):213-6.PMID: 16423628 [PubMed - indexed for MEDLINE]Related articles

No evidence of linkage or diabetes-associated mutations in the transcription factors BETA2/NEUROD1 and PAX4 in Type II diabetes in France.

Dupont S, Vionnet N, Chèvre JC, Gallina S, Dina C, Seino Y, Yamada Y, Froguel P.

Diabetologia. 1999 Apr;42(4):480-4.PMID: 10230653 [PubMed - indexed for MEDLINE]Related articles

Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity.

Biason-Lauber A, Boehm B, Lang-Muritano M, Gauthier BR, Brun T, Wollheim CB, Schoenle EJ.

Diabetologia. 2005 May;48(5):900-5. Epub 2005 Apr 15.PMID: 15834548 [PubMed - indexed for MEDLINE]Related articles

Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.

Furuta H, Furuta M, Sanke T, Ekawa K, Hanabusa T, Nishi M, Sasaki H, Nanjo K.

J Clin Endocrinol Metab. 2002 Aug;87(8):3859-63.PMID: 12161522 [PubMed - indexed for MEDLINE]Related articlesFree article

[Diagnostic use of gene polymorphism for type 2 diabetes]

Sanke T.

Rinsho Byori. 2002 Sep;50(9):871-6. Review. Japanese. PMID: 12386964 [PubMed - indexed for MEDLINE]Related articles

Functional consequences of mutations in the MODY4 gene (IPF1) and coexistence with MODY3 mutations.

Weng J, Macfarlane WM, Lehto M, Gu HF, Shepherd LM, Ivarsson SA, Wibell L, Smith T, Groop LC.

Diabetologia. 2001 Feb;44(2):249-58.PMID: 11270685 [PubMed - indexed for MEDLINE]Related articles

PAX4 mutations in Thais with maturity onset diabetes of the young.

Plengvidhya N, Kooptiwut S, Songtawee N, Doi A, Furuta H, Nishi M, Nanjo K, Tantibhedhyangkul W, Boonyasrisawat W, Yenchitsomanus PT, Doria A, Banchuin N.

J Clin Endocrinol Metab. 2007 Jul;92(7):2821-6. Epub 2007 Apr 10.PMID: 17426099 [PubMed - indexed for MEDLINE]Related articlesFree article

IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes.

Gragnoli C, Stanojevic V, Gorini A, Von Preussenthal GM, Thomas MK, Habener JF.

Metabolism. 2005 Aug;54(8):983-8.PMID: 16092045 [PubMed - indexed for MEDLINE]Related articles

T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects.

Zhu Q, Yamagata K, Miura A, Shihara N, Horikawa Y, Takeda J, Miyagawa J, Matsuzawa Y.

Diabetologia. 2003 Apr;46(4):567-73. Epub 2003 Mar 25.PMID: 12669197 [PubMed - indexed for MEDLINE]Related articles

PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.

Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M.

Diabetes. 2002 Jan;51(1):224-30.PMID: 11756345 [PubMed - indexed for MEDLINE]Related articlesFree article

A missense mutation in the CD38 gene, a novel factor for insulin secretion: association with Type II diabetes mellitus in Japanese subjects and evidence of abnormal function when expressed in vitro.

Yagui K, Shimada F, Mimura M, Hashimoto N, Suzuki Y, Tokuyama Y, Nata K, Tohgo A, Ikehata F, Takasawa S, Okamoto H, Makino H, Saito Y, Kanatsuka A.

Diabetologia. 1998 Sep;41(9):1024-8.PMID: 9754820 [PubMed - indexed for MEDLINE]Related articles

Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor.

Kemp DM, Lin JC, Habener JF.

J Biol Chem. 2003 Sep 12;278(37):35057-62. Epub 2003 Jun 26.PMID: 12829700 [PubMed - indexed for MEDLINE]Related articlesFree article

A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome.

Haaland WC, Scaduto DI, Maldonado MR, Mansouri DL, Nalini R, Iyer D, Patel S, Guthikonda A, Hampe CS, Balasubramanyam A, Metzker ML.

Diabetes Care. 2009 May;32(5):873-7. Epub 2009 Feb 19.PMID: 19228875 [PubMed - indexed for MEDLINE]Related articlesFree article

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.

Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayres S, Shepherd M, Clark P, Millward A, Demaine A, Wilkin T, Docherty K, Hattersley AT.

J Clin Invest. 1999 Nov;104(9):R33-9.PMID: 10545530 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of three new mutations of the HNF-1 alpha gene in Japanese MODY families.

Ikema T, Shimajiri Y, Komiya I, Tawata M, Sunakawa S, Yogi H, Shimabukuro M, Takasu N.

Diabetologia. 2002 Dec;45(12):1713-8. Epub 2002 Nov 12.PMID: 12488962 [PubMed - indexed for MEDLINE]Related articles