These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 9299395)

  • 1. Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.
    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
    Biochem Biophys Res Commun; 1997 Aug; 237(3):516-20. PubMed ID: 9299395
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome.
    Takahashi Y; Kadowaki H; Ando A; Quin JD; MacCuish AC; Yazaki Y; Akanuma Y; Kadowaki T
    J Clin Invest; 1998 Feb; 101(3):588-94. PubMed ID: 9449692
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism.
    Takahashi Y; Kadowaki H; Momomura K; Fukushima Y; Orban T; Okai T; Taketani Y; Akanuma Y; Yazaki Y; Kadowaki T
    Diabetologia; 1997 Apr; 40(4):412-20. PubMed ID: 9112018
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families.
    Desbois-Mouthon C; Girodon E; Ghanem N; Caron M; Pennerath A; Conteville P; Magre J; Besmond C; Goossens M; Capeau J; Amselem S
    Prenat Diagn; 1997 Jul; 17(7):657-63. PubMed ID: 9249867
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.
    Rouard M; Macari F; Bouix O; Lautier C; Brun JF; Lefebvre P; Renard E; Bringer J; Jaffiol C; Grigorescu F
    Biochem Biophys Res Commun; 1997 May; 234(3):764-8. PubMed ID: 9175790
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.
    Tuthill A; Semple RK; Day R; Soos MA; Sweeney E; Seymour PJ; Didi M; O'rahilly S
    Clin Endocrinol (Oxf); 2007 Jan; 66(1):21-6. PubMed ID: 17201797
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Insulin receptor and diabetes].
    Clauser E
    Rev Prat; 1994 May; 44(9):1154-62. PubMed ID: 7939336
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
    Bodzioch M; Lapicka K; Aslanidis C; Kacinski M; Schmitz G
    Hum Mutat; 2001; 17(1):72. PubMed ID: 11139246
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.
    Kadowaki T; Bevins CL; Cama A; Ojamaa K; Marcus-Samuels B; Kadowaki H; Beitz L; McKeon C; Taylor SI
    Science; 1988 May; 240(4853):787-90. PubMed ID: 2834824
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Insulin resistance associated with decreased levels of insulin-receptor messenger ribonucleic acid: evidence of a de novo mutation in the maternal allele.
    Suzuki Y; Hatanaka Y; Taira M; Shimada F; Hashimoto N; Takayanagi M; Taylor SI; Makino H; Yoshida S
    J Clin Endocrinol Metab; 1995 Apr; 80(4):1214-20. PubMed ID: 7714091
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene.
    Ogawa W; Iwamoto K; Mori H; Hashiramoto M; Miyake K; Sakaguchi K; Kasuga M
    Diabetes Res Clin Pract; 2009 Mar; 83(3):e75-7. PubMed ID: 19135752
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Leu 193 mutation in the cysteine rich region of the insulin receptor inhibits the cleavage of the insulin receptor precursor but not insulin binding.
    Takata Y; Imamura T; Haruta T; Egawa K; Takada Y; Sawa T; Yang GH; Kobayashi M
    Biochem Biophys Res Commun; 1994 Sep; 203(2):763-7. PubMed ID: 8093054
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
    Maassen JA; Tobias ES; Kayserilli H; Tukel T; Yuksel-Apak M; D'Haens E; Kleijer WJ; Féry F; van der Zon GC
    J Clin Endocrinol Metab; 2003 Sep; 88(9):4251-7. PubMed ID: 12970295
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy).
    Vorwerk P; Christoffersen CT; Müller J; Vestergaard H; Pedersen O; De Meyts P
    Horm Res; 1999; 52(5):211-20. PubMed ID: 10844410
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene.
    Hoshiya M; Christian BP; Cromie WJ; Kim H; Zhan Y; MacLaughlin DT; Donahoe PK
    Birth Defects Res A Clin Mol Teratol; 2003 Oct; 67(10):868-74. PubMed ID: 14745940
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Implications of compound heterozygous insulin receptor mutations in congenital muscle fibre type disproportion myopathy for the receptor kinase activation.
    Klein HH; Müller R; Vestergaard H; Pedersen O
    Diabetologia; 1999 Feb; 42(2):245-9. PubMed ID: 10064106
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Donohue's syndrome (Leprechaunism)].
    Imamura T; Kobayashi M
    Nihon Rinsho; 1994 Oct; 52(10):2643-7. PubMed ID: 7983792
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
    Gastier JM; Berg MA; Vesterhus P; Reiter EO; Francke U
    Hum Mutat; 2000 Oct; 16(4):323-33. PubMed ID: 11013443
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.
    Riqué S; Nogués C; Ibàñez L; Marcos MV; Ferragut J; Carrascosa A; Potau N
    Clin Genet; 2000 Jan; 57(1):67-9. PubMed ID: 10733238
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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.
    Jospe N; Zhu J; Liu R; Livingston JN; Furlanetto RW
    J Clin Endocrinol Metab; 1994 Nov; 79(5):1294-302. PubMed ID: 7962321
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.