191 related articles for article (PubMed ID: 8356449)
1. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.
Zhou J; Mochizuki T; Smeets H; Antignac C; Laurila P; de Paepe A; Tryggvason K; Reeders ST
Science; 1993 Aug; 261(5125):1167-9. PubMed ID: 8356449
[TBL] [Abstract][Full Text] [Related]
2. 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; 4(1):99-108. PubMed ID: 7711741
[TBL] [Abstract][Full Text] [Related]
3. 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; 62(2):253-61. PubMed ID: 9463311
[TBL] [Abstract][Full Text] [Related]
4. 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; 76(2):233-43. PubMed ID: 9042160
[TBL] [Abstract][Full Text] [Related]
5. Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene.
Antignac C; Zhou J; Sanak M; Cochat P; Roussel B; Deschênes G; Gros F; Knebelmann B; Hors-Cayla MC; Tryggvason K
Kidney Int; 1992 Nov; 42(5):1178-83. PubMed ID: 1453602
[TBL] [Abstract][Full Text] [Related]
6. 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; 22(5):419. PubMed ID: 14517961
[TBL] [Abstract][Full Text] [Related]
7. 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; 50(11):745-53. PubMed ID: 23958657
[TBL] [Abstract][Full Text] [Related]
8. 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; 154(6):1883-91. PubMed ID: 10362815
[TBL] [Abstract][Full Text] [Related]
9. 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; 30(1):3-8. PubMed ID: 20951201
[TBL] [Abstract][Full Text] [Related]
10. Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.
Dahan K; Heidet L; Zhou J; Mettler G; Leppig KA; Proesmans W; David A; Roussel B; Mongeau JG; Gould JM
Kidney Int; 1995 Dec; 48(6):1900-6. PubMed ID: 8587250
[TBL] [Abstract][Full Text] [Related]
11. 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; 33(3):473-9. PubMed ID: 8661006
[TBL] [Abstract][Full Text] [Related]
12. 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; 62(7):733-735. PubMed ID: 28275241
[TBL] [Abstract][Full Text] [Related]
13. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
Kashtan CE
Medicine (Baltimore); 1999 Sep; 78(5):338-60. PubMed ID: 10499074
[TBL] [Abstract][Full Text] [Related]
14. 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; 78(3-4):240-6. PubMed ID: 9465897
[TBL] [Abstract][Full Text] [Related]
15. [Detection of large deletions in X linked Alport syndrome using competitive multiplex fluorescence polymerase chain reaction].
Wang F; Zhang YQ; Ding J; Yu LX
Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct; 49(5):760-767. PubMed ID: 29045953
[TBL] [Abstract][Full Text] [Related]
16. Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis.
Garcia-Torres R; Cruz D; Orozco L; Heidet L; Gubler MC
Nephrologie; 2000; 21(1):9-12. PubMed ID: 10730274
[TBL] [Abstract][Full Text] [Related]
17. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
Antignac C; Knebelmann B; Drouot L; Gros F; Deschênes G; Hors-Cayla MC; Zhou J; Tryggvason K; Grünfeld JP; Broyer M
J Clin Invest; 1994 Mar; 93(3):1195-207. PubMed ID: 8132760
[TBL] [Abstract][Full Text] [Related]
18. Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.
Renieri A; Bassi MT; Galli L; Zhou J; Giani M; De Marchi M; Ballabio A
Hum Mutat; 1994; 4(3):195-8. PubMed ID: 7833948
[TBL] [Abstract][Full Text] [Related]
19. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
Renieri A; Galli L; Grillo A; Bruttini M; Neri T; Zanelli P; Rizzoni G; Massella L; Sessa A; Meroni M; Peratoner L; Riegler P; Scolari F; Mileti M; Giani M; Cossu M; Savi M; Ballabio A; De Marchi M
Am J Med Genet; 1995 Nov; 59(3):380-5. PubMed ID: 8599366
[TBL] [Abstract][Full Text] [Related]
20. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]