BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

191 related articles for article (PubMed ID: 10505700)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation.
    Tajima T; Sasaki S; Tanaka Y; Kusunoki H; Nagashima T; Nonomura K; Fujieda K
    Horm Res; 2003; 60(6):302-5. PubMed ID: 14646409
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.
    Chernin G; Vega-Warner V; Schoeb DS; Heeringa SF; Ovunc B; Saisawat P; Cleper R; Ozaltin F; Hildebrandt F;
    Clin J Am Soc Nephrol; 2010 Sep; 5(9):1655-62. PubMed ID: 20595692
    [TBL] [Abstract][Full Text] [Related]  

  • 10. WT1 and glomerular diseases.
    Niaudet P; Gubler MC
    Pediatr Nephrol; 2006 Nov; 21(11):1653-60. PubMed ID: 16927106
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Clinical and pathological features and mutational types of WT1 mutation-associated nephropathy].
    Sun LZ; Wang HY; Li M; Lin HR; Wu JL; Tang W; Li YJ; Yue ZH; Liu T; Chen HM; Hu MY
    Zhonghua Er Ke Za Zhi; 2018 Oct; 56(10):769-774. PubMed ID: 30293282
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
    Hersmus R; van der Zwan YG; Stoop H; Bernard P; Sreenivasan R; Oosterhuis JW; Brüggenwirth HT; de Boer S; White S; Wolffenbuttel KP; Alders M; McElreavy K; Drop SL; Harley VR; Looijenga LH
    PLoS One; 2012; 7(7):e40858. PubMed ID: 22815844
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.
    Benetti E; Caridi G; Malaventura C; Dagnino M; Leonardi E; Artifoni L; Ghiggeri GM; Tosatto SC; Murer L
    Clin J Am Soc Nephrol; 2010 Apr; 5(4):698-702. PubMed ID: 20150449
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Transcriptional regulation of PDGF-A and TGF-beta by +KTS WT1 deletion mutants and a mutant mimicking Denys-Drash syndrome.
    Jin DK; Kang SJ; Kim SJ; Bang EH; Hwang HZ; Tadokoro K; Yamada M; Kohsaka T
    Ren Fail; 1999 Nov; 21(6):685-94. PubMed ID: 10586431
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes).
    Auber F; Lortat-Jacob S; Sarnacki S; Jaubert F; Salomon R; Thibaud E; Jeanpierre C; Nihoul-Fékété C
    J Pediatr Surg; 2003 Jan; 38(1):124-9; discussion 124-9. PubMed ID: 12592634
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria.
    Guaragna MS; Lutaif AC; Piveta CS; Belangero VM; Maciel-Guerra AT; Guerra G; De Mello MP
    Biochem Biophys Res Commun; 2013 Nov; 441(2):371-6. PubMed ID: 24161391
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.
    Lehnhardt A; Karnatz C; Ahlenstiel-Grunow T; Benz K; Benz MR; Budde K; Büscher AK; Fehr T; Feldkötter M; Graf N; Höcker B; Jungraithmayr T; Klaus G; Koehler B; Konrad M; Kranz B; Montoya CR; Müller D; Neuhaus TJ; Oh J; Pape L; Pohl M; Royer-Pokora B; Querfeld U; Schneppenheim R; Staude H; Spartà G; Timmermann K; Wilkening F; Wygoda S; Bergmann C; Kemper MJ
    Clin J Am Soc Nephrol; 2015 May; 10(5):825-31. PubMed ID: 25818337
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 10.