These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

117 related articles for article (PubMed ID: 8264140)

  • 41. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
    Martin P; Heiskari N; Pajari H; Grönhagen-Riska C; Kääriäinen H; Koskimies O; Tryggvason K
    Hum Mutat; 2000 Jun; 15(6):579. PubMed ID: 10862091
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody.
    Yoshioka K; Hino S; Takemura T; Maki S; Wieslander J; Takekoshi Y; Makino H; Kagawa M; Sado Y; Kashtan CE
    Am J Pathol; 1994 May; 144(5):986-96. PubMed ID: 8178947
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.
    Lemmink HH; Mochizuki T; van den Heuvel LP; Schröder CH; Barrientos A; Monnens LA; van Oost BA; Brunner HG; Reeders ST; Smeets HJ
    Hum Mol Genet; 1994 Aug; 3(8):1269-73. PubMed ID: 7987301
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Molecular genetics of Alport syndrome.
    Tryggvason K; Zhou J; Hostikka SL; Shows TB
    Kidney Int; 1993 Jan; 43(1):38-44. PubMed ID: 8433568
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
    Barker DF; Denison JC; Atkin CL; Gregory MC
    Am J Med Genet; 2001 Jan; 98(2):148-60. PubMed ID: 11223851
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
    Knebelmann B; Deschenes G; Gros F; Hors MC; Grünfeld JP; Zhou J; Tryggvason K; Gubler MC; Antignac C
    Am J Hum Genet; 1992 Jul; 51(1):135-42. PubMed ID: 1376965
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. Deletions of the COL4A5 gene in patients with Alport syndrome.
    Netzer KO; Renders L; Zhou J; Pullig O; Tryggvason K; Weber M
    Kidney Int; 1992 Dec; 42(6):1336-44. PubMed ID: 1474765
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Structure of the human type IV collagen COL4A5 gene.
    Zhou J; Leinonen A; Tryggvason K
    J Biol Chem; 1994 Mar; 269(9):6608-14. PubMed ID: 8120014
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain.
    Renieri A; Meroni M; Sessa A; Battini G; Serbelloni P; Torri Tarelli L; Seri M; Galli L; De Marchi M
    Nephron; 1994; 67(4):444-9. PubMed ID: 7969679
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.
    Hertz JM; Persson U; Juncker I; Segelmark M
    Hum Genet; 2005 Oct; 118(1):23-8. PubMed ID: 16133187
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.
    Renieri A; Seri M; Galli L; Cosci P; Imbasciati E; Massella L; Rizzoni G; Restagno G; Carbonara AO; Stramignoni E
    Hum Genet; 1993 Oct; 92(4):417-20. PubMed ID: 8225325
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
    Smeets HJ; Melenhorst JJ; Lemmink HH; Schröder CH; Nelen MR; Zhou J; Hostikka SL; Tryggvason K; Ropers HH; Jansweijer MC
    Kidney Int; 1992 Jul; 42(1):83-8. PubMed ID: 1635357
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
    Weber S; Strasser K; Rath S; Kittke A; Beicht S; Alberer M; Lange-Sperandio B; Hoyer PF; Benz MR; Ponsel S; Weber LT; Klein HG; Hoefele J
    Pediatr Nephrol; 2016 Jun; 31(6):941-55. PubMed ID: 26809805
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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]  

  • 57. A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
    Peissel B; Rossetti S; Renieri A; Galli L; De Marchi M; Battini G; Meroni M; Sessa A; Schiavano S; Pignatti PF
    Hum Mutat; 1994; 3(4):386-90. PubMed ID: 8081393
    [No Abstract]   [Full Text] [Related]  

  • 58. A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.
    Baikara BT; Zholdybayeva EV; Rakhimova SE; Nigmatullina NB; Momynaliev KT; Ramanculov YM
    PLoS One; 2015; 10(7):e0132010. PubMed ID: 26168235
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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; 9(1):1-9. PubMed ID: 2004755
    [TBL] [Abstract][Full Text] [Related]  

  • 60. The pathogenesis of Alport syndrome involves type IV collagen molecules containing the alpha 3(IV) chain: evidence from anti-GBM nephritis after renal transplantation.
    Hudson BG; Kalluri R; Gunwar S; Weber M; Ballester F; Hudson JK; Noelken ME; Sarras M; Richardson WR; Saus J
    Kidney Int; 1992 Jul; 42(1):179-87. PubMed ID: 1635348
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.