| 1 | GBGT1, WT1
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| 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.
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| Melo KF, Martin RM, Costa EM, Carvalho FM, Jorge AA, Arnhold IJ, Mendonca BB.
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| J Clin Endocrinol Metab 87(6):2500-5. Review. 2002
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| 2 | GBGT1, WT1
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| Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.
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| Perez de Nanclares G, Castano L, Bilbao JR, Vallo A, Rica I, Vela A, Martul P.
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| J Pediatr Endocrinol Metab 15(7):1047-50. 2002
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| 3 | DDS, GBGT1, WT1
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| Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation.
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| Hammes A, Guo JK, Lutsch G, Leheste JR, Landrock D, Ziegler U, Gubler MC, Schedl A.
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| Cell 106(3):319-29. 2001
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| 4 | GBGT1, WT1
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| The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.
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| Barbosa AS, et al.
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| Hum Mutat 13 : 146-153. 1999
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| 5 | GBGT1, WT1
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| Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
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| Kohsaka T, Tagawa M, Takekoshi Y, Yanagisawa H, Tadokoro K, Yamada M.
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| Hum Mutat 14(6):466-70 1999
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| 6 | GBGT1, WT1
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| A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene.
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| Okuhara K, Tajima S, Nakae J, Sasaki S, Tochimaru H, Abe S, Fujieda K.
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| Endocr J 46(5):639-42. 1999
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| 7 | GBGT1
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| Characterization of the human Forssman synthetase gene. An evolving association between glycolipid synthesis and host-microbial interactions.
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| Xu H, Storch T, Yu M, Elliott SP, Haslam DB.
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| J Biol Chem 274(41):29390-8. 1999
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| 8 | GBGT1, WT1
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| Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
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| Kikuchi H, Takata A, Akasaka Y, Fukuzawa R, Yoneyama H, Kurosawa Y, Honda M, Kamiyama Y, Hata J.
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| J Med Genet 35(1):45-8. 1998
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| 9 | GBGT1, WT1
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| Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
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| Klamt B, et al.
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| Hum Mol Genet 7 : 709-714. 1998
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| 10 | GBGT1, WT1, FS
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| Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
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| Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K.
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| Nat Genet 17(4):467-70. 1997
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| 11 | DDS, GBGT1, WT1
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| Sugar and spice and all things splice?
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| Van Heyningen V.
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| Nat Genet 17(4):367-8. No abstract available. 1997
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| 12 | GBGT1, WT1
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| Truncated WT1 mutants alter the subnuclear localization of the wild-type protein.
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| Englert C, et al.
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| Proc Natl Acad Sci U S A 92 : 11960-11964. 1995
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