Citations for
1INS
Mapping of INS promoter interactions reveals its role in long-range regulation of SYT8 transcription.
Xu Z, Wei G, Chepelev I, Zhao K, Felsenfeld G.
Nat Struct Mol Biol. 18(3):372-8. 2011
2INS, PNDM4
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group, Johnstone K, Flanagan SE, Martínez R, Castańo C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castańo L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT.
Proc Natl Acad Sci U S A 107(7):3105-10. Epub 2010 Jan 28.PMID: 20133622 2010
3INS, MODY10
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T.
BMC Med Genet 11:42.PMID: 20226046 2010
4INS
Implications for the active form of human insulin based on the structural convergence of highly active hormone analogues.
Jirácek J, Záková L, Antolíková E, Watson CJ, Turkenburg JP, Dodson GG, Brzozowski AM.
Proc Natl Acad Sci U S A 107(5):1966-70. Epub 2010 Jan 25.PMID: 20133841 2010
5INS, PNDM4
Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.
Park SY, Ye H, Steiner DF, Bell GI.
Biochem Biophys Res Commun 391(3):1449-54. Epub 2009 Dec 23.PMID: 20034470 2010
6INS
Insulin gene expression is regulated by DNA methylation.
Kuroda A, Rauch TA, Todorov I, Ku HT, Al-Abdullah IH, Kandeel F, Mullen Y, Pfeifer GP, Ferreri K.
PLoS One 4(9):e6953. Erratum in: PLoS One. 2009;4(10) 10.1371/annotation/947a8d4a-3585-4b23-ac84-b47a255a70d9. PMID: 19742322 2009
7CLEC16A, CTLA4, IFIH1, IL2RA, INS, MODY10, PTPN2, PTPN22
The molecular genetics of type 1 diabetes: new genes and emerging mechanisms.
Ounissi-Benkalha H, Polychronakos C.
Trends Mol Med 14(6):268-75. Epub 2008 May 14. 2008
8INS, PNDM4
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.
Ahamed A, Unnikrishnan AG, Pendsey SS, Nampoothiri S, Bhavani N, Praveen VP, Kumar H, Jayakumar RV, Nair V, Ellard S, Edghill EL.
JOP 9(6):715-8.PMID: 18981553 2008
9INS, PNDM4
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Střy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.
Diabetes 57(4):1034-42. Epub 2007 Dec 27.PMID: 18162506 2008
10AGT, INS, MAPK7, MODY10
Regulation of ERK5 by insulin and angiotensin-II in vascular smooth muscle cells.
Sharma G, Goalstone ML.
Biochem Biophys Res Commun 354(4):1078-83. Epub 2007 Jan 26. 2007
11INS, MODY10, PNDM4
Insulin gene mutations as a cause of permanent neonatal diabetes.
Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group.
Proc Natl Acad Sci U S A 104(38):15040-4. Epub 2007 Sep 12. 2007
12ATF2, INS
ATF-2 stimulates the human insulin promoter through the conserved CRE2 sequence.
Hay CW, Ferguson LA, Docherty K.
Biochim Biophys Acta 1769(2):79-91. Epub 2007 Jan 28. 2007
13INS, KLF11
Human Krüppel-like factor 11 inhibits human proinsulin promoter activity in pancreatic beta cells.
Niu X, Perakakis N, Laubner K, Limbert C, Stahl T, Brendel MD, Bretzel RG, Seufert J, Päth G.
Diabetologia 50(7):1433-41. Epub 2007 May 4. Erratum in: Diabetologia. 2007 Sep;50(9):2031. 2007
14TRPM5, INS, DMR1, KCNQ1OT1, IGF2, BWS
The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.
Du M, Zhou W, Beatty LG, Weksberg R, Sadowski PD.
Genomics 84(2):288-300. 2004
15IGF2, INS
Evidence of multiple causal sites affecting weight in the IGF2-INS-TH region of human chromosome 11.
Gu D, O'Dell SD, Chen Xh XH, Miller GJ, Day IM.
Hum Genet 110(2):173-81. 2002
16INS
Insulin and leptin combine additively to reduce food intake and body weight in rats.
Air EL, Benoit SC, Clegg DJ, Seeley RJ, Woods SC.
Endocrinology. 143(6):2449-52. 2002
17INS, MODY10
Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity.
Le Stunff C, Fallin D, Bougneres P.
Nat Genet 29(1):96-9. 2001
18INS, MODY10
The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity.
Le Stunff C, Fallin D, Schork NJ, Bougneres P.
Nat Genet 26(4):444-6. 2000
19IGF2, INS
Transmission ratio distortion at the INS-IGF2 VNTR.
Eaves IA, et al.
Nat Genet 22(4):324-5. No abstract available 1999
20IGF2, INS, MODY10
Associations of IGF2 apaI RFLP and INS VNTR class I allele size with obesity.
O'Dell SD, et al.
Eur J Hum Genet 7(7):821-7 1999
21INS, RPH3AL
Novel rabphilin-3-like protein associates with insulin-containing granules in pancreatic beta cells.
Wang J, Takeuchi T, Yokota H, Izumi T.
J Biol Chem 274(40):28542-8. 1999
22IDDM2, INS, MODY10
The insulin gene VNTR, type 2 diabetes and birth weight.
Ong KK, Phillips DI, Fall C, Poulton J, Bennett ST, Golding J, Todd JA, Dunger DB.
Nat Genet 21(3):262-3. No abstract available. 1999
23IDDM2, INS
Association of the INS VNTR with size at birth.
Dunger DB, et al.
Nat Genet 19 : 98-100. 1998
24INS, MODY10
Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin : identification of the mutation by restriction enzyme mapping.
Collinet M, et al.
Eur J Pediatr 157 : 456-460. 1998
25IDDM2, INS, MODY10
The insulin gene is transcribed in the human thymus and transcription levels correlate with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes.
Pugliese A, et al.
Nat Genet 15 : 293-297. 1997
26IDDM2, INS, MODY10
Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus.
Vafiadis P, et al.
Nat Genet 15 : 289-292. 1997
27INS, MODY10
A novel point mutation in the insulin gene giving rise to hyperproinsulinemia.
Warren-Perry MG, et al.
J Clin Endocrinol Metab 82 : 1629-1631. 1997
28IDDM2, INS, MODY10
Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype.
Lucassen AM, et al.
Hum Mol Genet 4 : 501-506. 1995
29MYOD1, PTH, INS
An ordered Notl fragment map of human chromosome band 11p15.
Higgins MJ, et al.
Genomics 23 : 211-222. 1994
30INS, MODY10
A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).
Yano H, et al.
J Clin Invest 89 : 1902-1907. 1992
31INS, MODY10
A variant insulin promoter in non-insulin-dependent diabetes mellitus.
Olansky L, et al.
J Clin Invest 89 : 1596-1602. 1992
32INS
Pstl polymorphism within the 3' untranslated region of the insulin gene detectable by the polymerase chain reaction (INS).
Hoban PR, et al.
Nucleic Acids Res 19 : 4576. 1991
33INS
A MaeIII polymorphism within intron A of the insulin (INS) gene detectable by PCR.
Hoban PR, et al.
Nucleic Acids Res 19 : 5091. 1991
34INS, MODY10
Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule : identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.
Barbetti F, et al.
J Clin Endocrinol Metab 71 : 164-169. 1990
35INS, TH
DraI and PstI RFLPs in the tyrosine hydroxylase (TH) and insulin gene (INS) region of chromosome 11.
Sten-Linder M, et al.
Nucleic Acids Res 17 : 5873. 1989
36TH, INS
Human tyrosine hydroxylase and insulin genes are contiguous on chromosome 11.
O'Malley KL, et al.
Nucleic Acids Res 16 : 4437-4446. 1988
37INS, HRAS
DNA polymorphisms indicate loss of heterozygosity for chromosome 11 of D98AH2 cells.
Kaelbling M, et al.
Cytogenet Cell Genet 41 : 240-244. 1986
38HB-NA@, PTH, INS, LDHA
Mapping parathyroid hormone, beta-globin, insulin, and LDH-A genes within the human chromosome 11 short arm by spot blotting sorted chromosomes.
Lebo RV, et al.
Hum Genet 69 : 316-320. 1985
39INS, PTH
Chromosome mapping of genes on the short arm of human chromosome 11: parathyroid hormone gene is at 11p15 together with the genes for insulin, c-Harvey-ras 1, and beta-hemoglobin.
Zabel BU, et al.
Cytogenet Cell Genet 39 : 200-205. 1985
40HB-NA@, HBB, HBBP1, HBD, HBE1, HBG1, HBG2, HRAS, INS, MODY10, PTH
Germ-line chromosomal localization of genes in chromosome 11p linkage: parathyroid hormone, beta-globin, c-H-ras-1, and insulin.
Chaganti RSK, et al.
Somat Cell Mol Genet 11 : 197-202. 1985
41INS, MODY10
Familial hyperinsulinemia due to a structurally abnormal insulin.
Haneda M, et al.
N Engl J Med 310 : 1288-1294. 1984
42D3S1, INS, AMY@
Gene mapping by in situ hybridization.
Zabel BU, et al.
(HGM7) Cytogenet Cell Genet 37 : 615. 1984
43HB-NA@, INS, WAGR, HRAS
Wilms tumor-aniridia association : segregation of affected chromosome in somatic cell hybrids, identification of cell surface antigen associated with deleted area, and regional mapping of c-Ha-ras-1 oncogene, insulin gene, and beta-globin gene.
Fisher JH, et al.
Somat Cell Mol Genet 10 : 455-464. 1984
44HRAS, INS
HRAS 1, insulin, and beta-globin map outside of 11p11.2-->p14.1
de Martinville B, et al.
(HGM7) Cytogenet Cell Genet 37 : 530. 1984
45INS
Three mutant insulins in man.
Shoelson S, et al.
Nature 302 : 540-543. 1983
46INS
Use of chromosome rearrangements to more precisely localize the insulin gene with in situ hybridization.
Donlon TA, et al.
(HGM7) Cytogenet Cell Genet 37 : 455. 1983
47INS
The human insulin gene (INS) maps on the short arm of chromosome 11.
de Martinville B, et al.
Cytogenet Cell Genet 32 : 265. 1982
48INS
Localization of the insulin gene (INS) on the short arm of chromosome 11.
Owerbach D, et al.
Cytogenet Cell Genet 32 : 306. 1982
49INS
Localization of the human insulin gene to the distal end of the short arm of chromosome 11.
Harper ME, et al.
Proc Natl Acad Sci U S A 78 : 4458-4460. 1981
50INS
The insulin gene is located on the short arm of chromosome 11 in humans.
Owerbach D, et al.
Diabetes 30 : 267-270. 1981
51INS
The insulin gene is located on chromosome 11 in humans.
Owerbach D, et al.
Nature 286: 82-84. 1980