327 related articles for article (PubMed ID: 12796257)
21. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
Nabais Sá MJ; Sampaio S; Oliveira A; Alves S; Moura CP; Silva SE; Castro R; Araújo JA; Rodrigues M; Neves F; Seabra J; Soares C; Gaspar MA; Tavares I; Freitas L; Sousa TC; Henriques AC; Costa FT; Morgado E; Sousa FT; Sousa JP; da Costa AG; Filipe R; Garrido J; Montalban J; Ponce P; Alves R; Faria B; Carvalho MF; Pestana M; Carvalho F; Oliveira JP
Clin Genet; 2015 Nov; 88(5):462-7. PubMed ID: 25307721
[TBL] [Abstract][Full Text] [Related]
22. Expression of mRNA for type IV collagen alpha1, alpha5 and alpha6 chains by cultured dermal fibroblasts from patients with X-linked Alport syndrome.
Sasaki S; Zhou B; Fan WW; Kim Y; Barker DF; Denison JC; Atkin CL; Gregory MC; Zhou J; Segal Y; Sado Y; Ninomiya Y; Michael AF; Kashtan CE
Matrix Biol; 1998 Aug; 17(4):279-91. PubMed ID: 9749944
[TBL] [Abstract][Full Text] [Related]
23. Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.
Hashimura Y; Nozu K; Kaito H; Nakanishi K; Fu XJ; Ohtsubo H; Hashimoto F; Oka M; Ninchoji T; Ishimori S; Morisada N; Matsunoshita N; Kamiyoshi N; Yoshikawa N; Iijima K
Kidney Int; 2014 May; 85(5):1208-13. PubMed ID: 24304881
[TBL] [Abstract][Full Text] [Related]
24. Siblings with Alport's syndrome showing unique staining patterns for alpha5(IV) and alpha6(IV) chains of collagen type IV.
Tsuji T; Fujigaki Y; Sakakima M; Sado Y; Hishida A
Clin Exp Nephrol; 2010 Jun; 14(3):283-7. PubMed ID: 20213338
[TBL] [Abstract][Full Text] [Related]
25. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
Hertz JM; Juncker I; Marcussen N
Clin Genet; 2008 Dec; 74(6):522-30. PubMed ID: 18616531
[TBL] [Abstract][Full Text] [Related]
26. Loss of alpha3/alpha4(IV) collagen from the glomerular basement membrane induces a strain-dependent isoform switch to alpha5alpha6(IV) collagen associated with longer renal survival in Col4a3-/- Alport mice.
Kang JS; Wang XP; Miner JH; Morello R; Sado Y; Abrahamson DR; Borza DB
J Am Soc Nephrol; 2006 Jul; 17(7):1962-9. PubMed ID: 16769745
[TBL] [Abstract][Full Text] [Related]
27. X-linked Alport Syndrome with Type IV Collagen α5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman's Capsule and Distal Tubular Basement Membrane: A Case Report.
Okamoto T; Shima H; Doi T; Nozu K; Inoue T; Tashiro M; Wariishi S; Bando H; Azuma H; Iwasaka N; Ohara T; Okada K; Minakuchi J
Tohoku J Exp Med; 2023 Sep; 261(1):69-73. PubMed ID: 37495524
[TBL] [Abstract][Full Text] [Related]
28. Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome.
Cosgrove D; Liu S
Matrix Biol; 2017 Jan; 57-58():45-54. PubMed ID: 27576055
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Distribution of alpha-chains of type IV collagen in glomerular basement membranes with ultrastructural alterations suggestive of Alport syndrome.
Barsotti P; Muda AO; Mazzucco G; Massella L; Basolo B; De Marchi M; Rizzoni G; Monga G; Faraggiana T
Nephrol Dial Transplant; 2001 May; 16(5):945-52. PubMed ID: 11328899
[TBL] [Abstract][Full Text] [Related]
31. Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
Malone AF; Funk SD; Alhamad T; Miner JH
Pediatr Nephrol; 2017 Jun; 32(6):997-1003. PubMed ID: 28013382
[TBL] [Abstract][Full Text] [Related]
32. Quantitative analysis of glomerular type IV collagen alpha3-5 chain expression in children with thin basement membrane disease.
Ueda T; Nakajima M; Akazawa H; Maruhashi Y; Shimoyama H; Sakagami Y; Takagawa K; Kamitsuji H; Naito I; Sado Y; Yoshioka A
Nephron; 2002 Oct; 92(2):271-8. PubMed ID: 12218303
[TBL] [Abstract][Full Text] [Related]
33. [Proteins structure changes of COL4A5 gene point mutations and structure-phenotype relations in Alport syndrome].
Wang YF; Ding J; Wang F; Bu DF
Zhonghua Er Ke Za Zhi; 2004 Aug; 42(8):589-94. PubMed ID: 15347445
[TBL] [Abstract][Full Text] [Related]
34. Clinical and molecular diagnosis of Alport syndrome.
Kashtan CE
Proc Assoc Am Physicians; 1995 Oct; 107(3):306-13. PubMed ID: 8608415
[TBL] [Abstract][Full Text] [Related]
35. Organization and expression of basement membrane collagen IV genes and their roles in human disorders.
Sado Y; Kagawa M; Naito I; Ueki Y; Seki T; Momota R; Oohashi T; Ninomiya Y
J Biochem; 1998 May; 123(5):767-76. PubMed ID: 9562604
[TBL] [Abstract][Full Text] [Related]
36. Transfer of the alpha 5(IV) collagen chain gene to smooth muscle restores in vivo expression of the alpha 6(IV) collagen chain in a canine model of Alport syndrome.
Harvey SJ; Zheng K; Jefferson B; Moak P; Sado Y; Naito I; Ninomiya Y; Jacobs R; Thorner PS
Am J Pathol; 2003 Mar; 162(3):873-85. PubMed ID: 12598321
[TBL] [Abstract][Full Text] [Related]
37. Clear lens extraction in Alport syndrome with combined anterior and posterior lenticonus or ruptured anterior lens capsule.
Gupta A; Ramesh Babu K; Srinivasan R; Mohanty D
J Cataract Refract Surg; 2011 Nov; 37(11):2075-8. PubMed ID: 22018369
[TBL] [Abstract][Full Text] [Related]
38. A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.
Arrondel C; Deschênes G; Le Meur Y; Viau A; Cordonnier C; Fournier A; Amadeo S; Gubler MC; Antignac C; Heidet L
Kidney Int; 2004 Jun; 65(6):2030-40. PubMed ID: 15149316
[TBL] [Abstract][Full Text] [Related]
39. A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities.
Zhao C; Wang F; Zhang Y; Wen Y; Su Y; Zhang C; Sui R; Xu F; Ding J; Dong F
Mol Vis; 2012; 18():2205-12. PubMed ID: 22919268
[TBL] [Abstract][Full Text] [Related]
40. Bilateral anterior lenticonus in a case of Alport syndrome: a clinical and histopathological correlation after successful clear lens extraction.
Sonarkhan S; Ramappa M; Chaurasia S; Mulay K
BMJ Case Rep; 2014 Jun; 2014():. PubMed ID: 24969069
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
