BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 9449692)

  • 1. 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]  

  • 2. 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]  

  • 3. The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
    Pepe CM; Saraco NI; Baquedano MS; Guercio G; Vaiani E; Marino R; Pandey AV; Flück CE; Rivarola MA; Belgorosky A
    Clin Endocrinol (Oxf); 2007 Nov; 67(5):698-705. PubMed ID: 17608756
    [TBL] [Abstract][Full Text] [Related]  

  • 4. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
    J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
    [TBL] [Abstract][Full Text] [Related]  

  • 5. In vitro expression of beta-thalassaemia gene (IVS1-1G>C) reveals complete inactivation of the normal 5' splice site and alternative aberrant RNA splicing.
    Fujihara N; Yamauchi K; Hirota-Kawadobora M; Ishikawa S; Tozuka M; Ishii E; Katsuyama T; Okumura N; Taniguchi S
    Ann Clin Biochem; 2007 Nov; 44(Pt 6):573-8. PubMed ID: 17961316
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A single base mutation in the 5' splice site of intron 7 of the lck gene is responsible for the deletion of exon 7 in lck mRNA of the JCaM1 cell line.
    Rouer E; Brule F; Benarous R
    Oncogene; 1999 Jul; 18(29):4262-8. PubMed ID: 10435639
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.
    Ookawara T; Davé V; Willems P; Martin JJ; de Barsy T; Matthys E; Yoshida A
    Arch Biochem Biophys; 1996 Mar; 327(1):35-40. PubMed ID: 8615693
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Nakamura K; Fukao T; Perez-Cerda C; Luque C; Song XQ; Naiki Y; Kohno Y; Ugarte M; Kondo N
    Mol Genet Metab; 2001 Feb; 72(2):115-21. PubMed ID: 11161837
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene.
    Piriev NI; Shih JM; Farber DB
    Invest Ophthalmol Vis Sci; 1998 Mar; 39(3):463-70. PubMed ID: 9501854
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.
    Isackson PJ; Bujnicki H; Harding CO; Vladutiu GD
    Mol Genet Metab; 2005; 86(1-2):250-6. PubMed ID: 16040263
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.
    Sun F; Knebelmann B; Pueyo ME; Zouali H; Lesage S; Vaxillaire M; Passa P; Cohen D; Velho G; Antignac C
    J Clin Invest; 1993 Sep; 92(3):1174-80. PubMed ID: 8376578
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.
    Yagi M; Takeshima Y; Wada H; Nakamura H; Matsuo M
    Hum Genet; 2003 Feb; 112(2):164-70. PubMed ID: 12522557
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.
    Jelassi A; Najah M; Jguirim I; Maatouk F; Lestavel S; Laroussi OS; Rouis M; Boileau C; Rabès JP; Varret M; Slimane MN
    Clin Chim Acta; 2008 Jun; 392(1-2):25-9. PubMed ID: 18355452
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    D'Souza-Li L; Canaff L; Janicic N; Cole DE; Hendy GN
    Hum Mutat; 2001 Nov; 18(5):411-21. PubMed ID: 11668634
    [TBL] [Abstract][Full Text] [Related]  

  • 18. X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.
    Goto M; Katsumata N
    Horm Res; 2009; 71(2):120-4. PubMed ID: 19129717
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Exon 5 alternative splicing of the cytochrome P450 aromatase could be a regulatory mechanism for estrogen production in humans].
    Pepe CM; Saraco NI; Baquedano MS; Guercio G; Vaiani E; Berensztein E; Rivarola MA; Belgorosky A
    Medicina (B Aires); 2007; 67(4):369-73. PubMed ID: 17891933
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4).
    Abed AA; Günther K; Kraus C; Hohenberger W; Ballhausen WG
    Hum Mutat; 2001 Nov; 18(5):397-410. PubMed ID: 11668633
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.