BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

302 related articles for article (PubMed ID: 9499425)

  • 1. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
    Klamt B; Koziell A; Poulat F; Wieacker P; Scambler P; Berta P; Gessler M
    Hum Mol Genet; 1998 Apr; 7(4):709-14. PubMed ID: 9499425
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
    Barbaux S; Niaudet P; Gubler MC; Grünfeld JP; Jaubert F; Kuttenn F; Fékété CN; Souleyreau-Therville N; Thibaud E; Fellous M; McElreavey K
    Nat Genet; 1997 Dec; 17(4):467-70. PubMed ID: 9398852
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.
    Demmer L; Primack W; Loik V; Brown R; Therville N; McElreavey K
    J Am Soc Nephrol; 1999 Oct; 10(10):2215-8. PubMed ID: 10505699
    [TBL] [Abstract][Full Text] [Related]  

  • 4. WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.
    Denamur E; Bocquet N; Baudouin V; Da Silva F; Veitia R; Peuchmaur M; Elion J; Gubler MC; Fellous M; Niaudet P; Loirat C
    Kidney Int; 2000 May; 57(5):1868-72. PubMed ID: 10792605
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.
    Denamur E; Bocquet N; Mougenot B; Da Silva F; Martinat L; Loirat C; Elion J; Bensman A; Ronco PM
    J Am Soc Nephrol; 1999 Oct; 10(10):2219-23. PubMed ID: 10505700
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
    Kikuchi H; Takata A; Akasaka Y; Fukuzawa R; Yoneyama H; Kurosawa Y; Honda M; Kamiyama Y; Hata J
    J Med Genet; 1998 Jan; 35(1):45-8. PubMed ID: 9475094
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations.
    Little M; Holmes G; Bickmore W; van Heyningen V; Hastie N; Wainwright B
    Hum Mol Genet; 1995 Mar; 4(3):351-8. PubMed ID: 7795587
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.
    Melo KF; Martin RM; Costa EM; Carvalho FM; Jorge AA; Arnhold IJ; Mendonca BB
    J Clin Endocrinol Metab; 2002 Jun; 87(6):2500-5. PubMed ID: 12050205
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.
    Barbosa AS; Hadjiathanasiou CG; Theodoridis C; Papathanasiou A; Tar A; Merksz M; Györvári B; Sultan C; Dumas R; Jaubert F; Niaudet P; Moreira-Filho CA; Cotinot C; Fellous M
    Hum Mutat; 1999; 13(2):146-53. PubMed ID: 10094551
    [TBL] [Abstract][Full Text] [Related]  

  • 10. WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.
    Yang Y; Jeanpierre C; Dressler GR; Lacoste M; Niaudet P; Gubler MC
    Am J Pathol; 1999 Jan; 154(1):181-92. PubMed ID: 9916932
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology].
    Zugor V; Zenker M; Schrott KM; Schott GE
    Aktuelle Urol; 2006 Jan; 37(1):64-6. PubMed ID: 16440249
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
    Kohsaka T; Tagawa M; Takekoshi Y; Yanagisawa H; Tadokoro K; Yamada M
    Hum Mutat; 1999; 14(6):466-70. PubMed ID: 10571943
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.
    Pérez de Nanclares G; Castaño L; Bilbao JR; Vallo A; Rica I; Vela A; Martul P
    J Pediatr Endocrinol Metab; 2002; 15(7):1047-50. PubMed ID: 12199335
    [TBL] [Abstract][Full Text] [Related]  

  • 14. WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.
    Kanemoto K; Ishikura K; Ariyasu D; Hamasaki Y; Hataya H; Hasegawa Y; Ikeda M
    Pediatr Nephrol; 2007 Mar; 22(3):454-8. PubMed ID: 17061122
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1.
    Borel F; Barilla KC; Hamilton TB; Iskandar M; Romaniuk PJ
    Biochemistry; 1996 Sep; 35(37):12070-6. PubMed ID: 8810912
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.
    Pelletier J; Bruening W; Kashtan CE; Mauer SM; Manivel JC; Striegel JE; Houghton DC; Junien C; Habib R; Fouser L
    Cell; 1991 Oct; 67(2):437-47. PubMed ID: 1655284
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome.
    Schumacher V; Gueler B; Looijenga LH; Becker JU; Amann K; Engers R; Dotsch J; Stoop H; Schulz W; Royer-Pokora B
    Mol Reprod Dev; 2008 Sep; 75(9):1484-94. PubMed ID: 18271004
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9.
    Fujita S; Sugimoto K; Miyazawa T; Yanagida H; Tabata N; Okada M; Takemura T
    Clin Nephrol; 2010 Jun; 73(6):487-91. PubMed ID: 20497763
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Glomerulopathy in Denys-Drash syndrome. Case report of a model disease].
    Stallmach T; Neuhaus TJ; Kösters R; Hailemariam S
    Pathologe; 1998 May; 19(3):230-4. PubMed ID: 9648150
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Expression in Xenopus oocytes shows that WT1 binds transcripts in vivo, with a central role for zinc finger one.
    Ladomery M; Sommerville J; Woolner S; Slight J; Hastie N
    J Cell Sci; 2003 Apr; 116(Pt 8):1539-49. PubMed ID: 12640038
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.