| 1 | LPCN
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| Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients.
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| Osawa H, Nishimiya T, Ochi M, Niiya T, Onuma H, Kitamuro F, Kaino Y, Kida K, Makino H.
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| Clin Genet 59(3):194-7. 2001
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| 2 | LPCN, MAWMA
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| Single-nucleotide polymorphism alleles in the insulin receptor gene are associated with typical migraine.
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| McCarthy LC, Hosford DA, Riley JH, Bird MI, White NJ, Hewett DR, Peroutka SJ, Griffiths LR, Boyd PR, Lea RA, Bhatti SM, Hosking LK, Hood CM, Jones KW, Handley AR, Rallan R, Lewis KF, Yeo AJ, Williams PM, Priest RC, Khan P, Donnelly C, Lumsden SM, O'Sullivan J, See CG, Smart DH, Shaw-Hawkins S, Patel J, Langrish TC, Feniuk W, Knowles RG, Thomas M, Libri V, Montgomery DS, Manasco PK, Xu CF, Dykes C, Humphrey PP, Roses AD, Purvis IJ.
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| Genomics 78(3):135-49. 2001
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| 3 | CBL, FLOT1, FLOT2, LPCN, SORBS1
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| CAP defines a second signalling pathway required for insulin-stimulated glucose transport.
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| Baumann CA, Ribon V, Kanzaki M, Thurmond DC, Mora S, Shigematsu S, Bickel PE, Pessin JE, Saltiel AR.
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| Nature 407(6801):202-7. 2000
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| 4 | LPCN
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| Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome.
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| Takahashi Y, Kadowaki H, Ando A, Quin JD, MacCuish AC, Yazaki Y, Akanuma Y, Kadowaki T.
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| J Clin Invest 101(3):588-94. 1998
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| 5 | LPCN
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| Identification of two novel insulin receptor mutations, asp59GLY and LEU62Pro, in type A syndrome of extreme insulin resistance.
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| Rouard M, Macari F, Bouix O, Lautier C, Brun JF, Lefebvre P, Renard E, Bringer J, Jaffiol C, Grigorescu F.
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| Biochem Biophys Res Commun 234(3):764-8. 1997
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| 6 | LPCN
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| Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.
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| Kadowaki H, Takahashi Y, Ando A, Momomura K, Kaburagi Y, Quin JD, MacCuish AC, Koda N, Fukushima Y, Taylor SI, Akanuma Y, Yazaki Y, Kadowaki T.
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| Biochem Biophys Res Commun 237(3):516-20. 1997
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| 7 | LPCN
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| Dominant transmission of insulin resistance in a type A family resulting from a heterozygous nonsense mutation in the insulin receptor gene and associated with decreased mRNA level and insulin binding sites.
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| Magre J, Karayanni C, Hadjiathanasiou CG, Desbois-Mouthon C, Meier M, Vigouroux C, Stavrinadis C, Sinaniotis C, Caron M, Capeau J.
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| Diabetes 46(11):1901-3. 1997
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| 8 | LPCN
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| SSCP analysis of the tyrosine kinase domain of the insulin receptor gene : polymorphisms detected in South African black and white subjects.
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| Panz VR, et al.
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| Hum Genet 97 : 438-440. 1996
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| 9 | LPCN
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| An insulin receptor mutant (Asp707-Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin.
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| Hart LM, et al.
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| J Biol Chem 271 : 18719-18724. 1996
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| 10 | LPCN
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| Association of the insulin-receptor variant Met-985 with hyperglycemia and non-insulin-dependent diabetes mellitus in the Netherlands : a population-based study.
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| T'Hart LM, et al.
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| Am J Hum Genet 59 : 1119-1125. 1996
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| 11 | LPCN
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| Short sequence repeats in intron 2 of the insulin receptor gene among black and white South Africans.
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| Panz VR, et al.
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| Clin Genet 50 : 529-530. 1996
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| 12 | LPCN
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| Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor.
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| Desbois-Mouthon C, et al.
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| Metabolism 45 : 1493-1500. 1996
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| 13 | LPCN
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| Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism.
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| Hone J, et al.
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| Hum Mutat 6 : 17-22. 1995
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| 14 | TSG19B, LPCN
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| Frequent deletion of chromosome 19 and a rare rearrangement of 19p13.3 involving the insulin receptor gene in human ovarian cancer.
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| Amfo K, et al.
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| Oncogene 11 : 351-358. 1995
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| 15 | LPCN
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| Molecular defects of the insulin receptor gene.
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| Accili D.
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| Diabetes Metab Rev 11 : 47-62. 1995
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| 16 | LPCN
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| Two mutant alleles of the insulin receptor gene in a family with a genetic form of insulin resistance : a 10 base pair deletion in exon 1 and a mutation substituting serine for asparagine-462.
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| Cama A, et al.
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| Hum Genet 95 : 174-182. 1995
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| 17 | LPCN
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| Two mutations in a conserved structural motif in the insulin receptor inhibit normal folding and intracellular transport of the receptor.
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| Wertheimer E, et al.
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| J Biol Chem 269 : 7587-7592. 1994
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| 18 | LPCN
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| Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.
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| Moller DE, et al.
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| Diabetes 43 : 247-255. 1994
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| 19 | LPCN
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| Homozygosity for a new mutation (Ile119-Met) in the insulin receptor gene in five sibs with familial insulin resistance.
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| Hone J, et al.
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| J Med Genet 31 : 715-716. 1994
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| 20 | LPCN
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| Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance.
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| Wertheimer E, et al.
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| J Clin Endocrinol Metab 78 : 1153-1158. 1994
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| 21 | LPCN
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| Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism : binding, phosphorylation, and biological activity.
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| Jospe N, et al.
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| J Clin Endocrinol Metab 79 : 1294-1302. 1994
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| 22 | LPCN
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| A 3-basepair in-frame deletion (deltaLeu999) in exon 17 of the insulin receptor gene in a family with insulin resistance.
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| Awata T, et al.
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| J Clin Endocrinol Metab 79 : 1840-1844. 1994
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| 23 | LPCN
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| Leprechaunism and homozygous nonsense mutation in the insulin receptor gene.
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| Psiachou H, et al.
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| Lancet 342 : 924. 1993
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| 24 | LPCN
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| Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.
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| Krook A, et al.
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| Lancet 342 : 277-278. 1993
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| 25 | LPCN
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| Mutation in a conserved motif next to the insulin receptor key autophosphorylation sites de-regulates kinase activity and impairs insulin action.
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| Formisano P, et al.
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| J Biol Chem 268 : 5241-5248. 1993
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| 26 | LPCN
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| Homozygous deletion of the human insulin receptor gene results in leprechaunism.
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| Wertheimer E, et al.
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| Nat Genet 5 : 71-73. 1993
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| 27 | LPCN
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| Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance.
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| Carrera P, et al.
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| Hum Mol Genet 2 : 1437-1441. 1993
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| 28 | LPCN
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| Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis.
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| Desbois C, et al.
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| Hum Mutat 2 : 395-403. 1993
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| 29 | LPCN
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| An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport.
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| van der Vorm ER, et al.
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| J Biol Chem 267 : 66-71. 1992
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| 30 | LPCN
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| Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance.
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| Longo N, et al.
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| Am J Hum Genet 50 : 998-1007. 1992
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| 31 | LPCN
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| Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis.
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| Barbetti F, et al.
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| Diabetes 41 : 408-415. 1992
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| 32 | LPCN
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| NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.
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| Cocozza S, et al.
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| Diabetes 41 : 521-526. 1992
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| 33 | LPCN
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| Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms.
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| Kim H, et al.
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| Diabetologia 35 : 261-266. 1992
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| 34 | LPCN
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| DNA haplotype analysis suggests linkage disequilibrium in the human insulin receptor gene.
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| Sten-Linder M, et al.
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| Hum Genet 87 : 469-474. 1991
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| 35 | LPCN
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| Microsatellite polymorphism in human insulin receptor gene (INSR) on chromosome 19.
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| Xiang K, et al.
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| Nucleic Acids Res 19 : 5094. 1991
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| 36 | LPCN
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| An EcoRI polymorphism at the insulin receptor locus on a fragment comprising exons 4 to 8.
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| Aman P, et al.
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| Nucleic Acids Res 19 : 5452. 1991
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| 37 | LPCN
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| A leucine to proline mutation at position 233 in the insulin receptor inhibits cleavage of the proreceptor and transport to the cell surface.
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| Maassen JA, et al.
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| Biochemistry 30 : 10778-10783. 1991
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| 38 | LPCN
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| Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.
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| Kusari J, et al.
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| J Biol Chem 266 : 5260-5267. 1991
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| 39 | LPCN
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| Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene.
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| Shimada F, et al.
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| Lancet 335 : 1179-1181. 1990
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| 40 | LPCN
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| A nonsense mutation causing decreased levels of insulin receptor mRNA : detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction.
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| Kadowaki T, et al.
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| Proc Natl Acad Sci U S A 87 : 658-662. 1990
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| 41 | LPCN
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| A naturally occurring mutation of insulin receptor Alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance.
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| Moller DE, Yokota A, White MF, Pazianos AG, Flier JS.
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| J Biol Chem 265(25):14979-85. 1990
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| 42 | LPCN
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| Identification of an insulin receptor exon 8 NsiI polymorphism using the polymerase chain reaction.
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| Hanis CL, et al.
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| Nucleic Acids Res 18 : 5923. 1990
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| 43 | LPCN
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| Mspl and Sstl RFLPs at the human insulin receptor locus on chromosome 19.
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| Elbein SC, et al.
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| Nucleic Acids Res 18 : 209. 1990
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| 44 | LPCN
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| Human insulin receptor RFLPs detected by HindIII and DraI.
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| Sten-Linder M, et al.
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| Nucleic Acids Res 17 : 1277. 1989
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| 45 | LPCN
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| A new EcoRI polymorphism for the insulin receptor gene.
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| Accili D, et al.
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| Nucleic Acids Res 17 : 821. 1989
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| 46 | LPCN
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| A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes.
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| Accili D, Frapier C, Mosthaf L, McKeon C, Elbein SC, Permutt MA, Ramos E, Lander E, Ullrich A, Taylor SI.
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| EMBO J 8 : 2509-2517. 1989
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| 47 | LPCN
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| Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance).
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| Moller DE, Flier JS.
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| N Engl J Med 319(23):1526-9. 1988
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| 48 | LPCN
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| Four RFLPs of the human insulin receptor gene: PstI, KpnI, RsaI (2 RFLPs).
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| Cox NJ, Spielman RS, Kahn CR, Muller-Wieland D, Kriauciunas KM, Taub R.
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| Nucleic Acids Res 16 : 8204. 1988
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| 49 | LPCN
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| Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing.
|
| Yoshimasa Y, et al.
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| Science 240 : 784-787. 1988
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| 50 | LPCN
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| Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.
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| Kadowaki T, et al.
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| Science 240 : 787-790. 1988
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| 51 | LPCN
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| A new SstI RFLP associated with human insulin receptor locus.
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| Patel P, et al.
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| Nucleic Acids Res 16 : 5700. 1988
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| 52 | LPCN
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| Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism.
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| Endo F, Nagata N, Priest JH, Longo N, Elsas LJ 2nd.
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| Am J Hum Genet 41(3):402-17. 1987
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| 53 | LPCN
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| Three RFLPs for the insulin receptor gene INSR : EcoRI, PstI, HindIII.
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| Sanna MA, et al.
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| Nucleic Acids Res 14 : 6776. 1986
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| 54 | C3, LPCN
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| Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19.
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| Shaw DJ, et al.
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| Hum Genet 74 : 267-269. 1986
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| 55 | LPCN
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| PvuII polymorphic sites in the human insulin receptor gene INSR.
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| Takeda J, et al.
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| Nucleic Acids Res 14 : 6777. 1986
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| 56 | LPCN
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| Multiple restriction fragment length polymorphisms at the insulin receptor locus : A highly informative marker for linkage analysis.
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| Elbein SC, et al.
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| Proc Natl Acad Sci U S A 83 : 5223-5227. 1986
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| 57 | LPCN
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| Leprechaunism: an inherited defect in a high-affinity insulin receptor.
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| Elsas LJ, Endo F, Strumlauf E, Elders J, Priest JH.
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| Am J Hum Genet 37(1):73-88. 1985
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| 58 | LPCN
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| Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts.
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| Taylor SI, et al.
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| J Clin Endocrinol Metab 56 : 856-861. 1983
|