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Journal Abstract Search

220 related items for PubMed ID: 8661006

  • 1. Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis.
    Zhang X, Zhou J, Reeders ST, Tryggvason K.
    Genomics; 1996 May 01; 33(3):473-9. PubMed ID: 8661006
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  • 2. Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth.
    Thielen BK, Barker DF, Nelson RD, Zhou J, Kren SM, Segal Y.
    Hum Mutat; 2003 Nov 01; 22(5):419. PubMed ID: 14517961
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  • 3. Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
    Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper MJ, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler MC, Antignac C.
    Cytogenet Cell Genet; 1997 Nov 01; 78(3-4):240-6. PubMed ID: 9465897
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  • 4. Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.
    Ueki Y, Naito I, Oohashi T, Sugimoto M, Seki T, Yoshioka H, Sado Y, Sato H, Sawai T, Sasaki F, Matsuoka M, Fukuda S, Ninomiya Y.
    Am J Hum Genet; 1998 Feb 01; 62(2):253-61. PubMed ID: 9463311
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  • 5. Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization.
    Heidet L, Cai Y, Sado Y, Ninomiya Y, Thorner P, Guicharnaud L, Boye E, Chauvet V, Solal LC, Beziau A, Torres RG, Antignac C, Gubler MC.
    Lab Invest; 1997 Feb 01; 76(2):233-43. PubMed ID: 9042160
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  • 6. Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
    Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP.
    J Med Genet; 2013 Nov 01; 50(11):745-53. PubMed ID: 23958657
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  • 7. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 01; 56(3):105-52. PubMed ID: 19728970
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  • 9. Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.
    Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JD, Leppig KA, Proesmans W, Guyot C, Guillot M.
    Hum Mol Genet; 1995 Jan 01; 4(1):99-108. PubMed ID: 7711741
    [Abstract] [Full Text] [Related]

  • 10. Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.
    Nozu K, Minamikawa S, Yamada S, Oka M, Yanagita M, Morisada N, Fujinaga S, Nagano C, Gotoh Y, Takahashi E, Morishita T, Yamamura T, Ninchoji T, Kaito H, Morioka I, Nakanishi K, Vorechovsky I, Iijima K.
    J Hum Genet; 2017 Jul 01; 62(7):733-735. PubMed ID: 28275241
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  • 12. Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome.
    Zhou J, Hostikka SL, Chow LT, Tryggvason K.
    Genomics; 1991 Jan 01; 9(1):1-9. PubMed ID: 2004755
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  • 13. Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis.
    Zheng K, Harvey S, Sado Y, Naito I, Ninomiya Y, Jacobs R, Thorner PS.
    Am J Pathol; 1999 Jun 01; 154(6):1883-91. PubMed ID: 10362815
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  • 16. Clinical and molecular diagnosis of Alport syndrome.
    Kashtan CE.
    Proc Assoc Am Physicians; 1995 Oct 01; 107(3):306-13. PubMed ID: 8608415
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  • 20. Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes.
    Oohashi T, Naito I, Ueki Y, Yamatsuji T, Permpoon R, Tanaka N, Naomoto Y, Ninomiya Y.
    Matrix Biol; 2011 Jan 01; 30(1):3-8. PubMed ID: 20951201
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