BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

262 related articles for article (PubMed ID: 35369551)

  • 1. Heterozygous Urinary Abnormality-Causing Variants of
    Horinouchi T; Yamamura T; Nagano C; Sakakibara N; Ishiko S; Aoto Y; Rossanti R; Nakanishi K; Shima Y; Morisada N; Iijima K; Nozu K
    Kidney360; 2020 Sep; 1(9):936-942. PubMed ID: 35369551
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
    Riedhammer KM; Simmendinger H; Tasic V; Putnik J; Abazi-Emini N; Stajic N; Berutti R; Weidenbusch M; Patzer L; Lungu A; Milosevski-Lomic G; Günthner R; Braunisch MC; Ćomić J; Hoefele J
    Clin Genet; 2024 Apr; 105(4):406-414. PubMed ID: 38214412
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
    Nabais Sá MJ; Storey H; Flinter F; Nagel M; Sampaio S; Castro R; Araújo JA; Gaspar MA; Soares C; Oliveira A; Henriques AC; da Costa AG; Abreu CP; Ponce P; Alves R; Pinho L; Silva SE; de Moura CP; Mendonça L; Carvalho F; Pestana M; Alves S; Carvalho F; Oliveira JP
    Clin Genet; 2015 Nov; 88(5):456-61. PubMed ID: 25307543
    [TBL] [Abstract][Full Text] [Related]  

  • 4. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
    Longo I; Porcedda P; Mari F; Giachino D; Meloni I; Deplano C; Brusco A; Bosio M; Massella L; Lavoratti G; Roccatello D; Frascá G; Mazzucco G; Muda AO; Conti M; Fasciolo F; Arrondel C; Heidet L; Renieri A; De Marchi M
    Kidney Int; 2002 Jun; 61(6):1947-56. PubMed ID: 12028435
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.
    Zhang Y; Ding J; Zhang H; Yao Y; Xiao H; Wang S; Wang F
    Mol Genet Genomic Med; 2019 May; 7(5):e647. PubMed ID: 30883042
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy.
    Hou P; Chen Y; Ding J; Li G; Zhang H
    Am J Nephrol; 2007; 27(5):538-44. PubMed ID: 17726307
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.
    Pierides A; Voskarides K; Athanasiou Y; Ioannou K; Damianou L; Arsali M; Zavros M; Pierides M; Vargemezis V; Patsias C; Zouvani I; Elia A; Kyriacou K; Deltas C
    Nephrol Dial Transplant; 2009 Sep; 24(9):2721-9. PubMed ID: 19357112
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.
    Zhang Y; Wang F; Ding J; Zhang H; Zhao D; Yu L; Xiao H; Yao Y; Zhong X; Wang S
    Am J Med Genet A; 2012 Sep; 158A(9):2188-93. PubMed ID: 22887978
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.
    Uliana V; Sebastio P; Riva M; Carli D; Ruberto C; Bianchi L; Graziano C; Capelli I; Faletra F; Pillon R; Mattina T; Sensi A; Bonatti F; Percesepe A
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1576. PubMed ID: 33369211
    [TBL] [Abstract][Full Text] [Related]  

  • 10. COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
    Storey H; Savige J; Sivakumar V; Abbs S; Flinter FA
    J Am Soc Nephrol; 2013 Dec; 24(12):1945-54. PubMed ID: 24052634
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.
    Li A; Cui YX; Lv X; Liu JH; Gao EZ; Wei XX; Xia XY; Gao CL; Liu FX; Xia ZK; Asan ; Liu ZH; Li XJ
    Cytogenet Genome Res; 2018; 154(3):132-136. PubMed ID: 29742505
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
    Furlano M; Martínez V; Pybus M; Arce Y; Crespí J; Venegas MDP; Bullich G; Domingo A; Ayasreh N; Benito S; Lorente L; Ruíz P; Gonzalez VL; Arlandis R; Cabello E; Torres F; Guirado L; Ars E; Torra R
    Am J Kidney Dis; 2021 Oct; 78(4):560-570.e1. PubMed ID: 33838161
    [TBL] [Abstract][Full Text] [Related]  

  • 13. COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
    Ramzan K; Imtiaz F; Taibah K; Alnufiee S; Akhtar M; Al-Hazzaa SA; Al-Owain M
    Int J Pediatr Otorhinolaryngol; 2014 Mar; 78(3):427-32. PubMed ID: 24398087
    [TBL] [Abstract][Full Text] [Related]  

  • 14. How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists.
    Imafuku A; Nozu K; Sawa N; Nakanishi K; Ubara Y
    Clin Exp Nephrol; 2020 Aug; 24(8):651-656. PubMed ID: 32232700
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Digenic Alport Syndrome.
    Savige J; Renieri A; Ars E; Daga S; Pinto AM; Rothe H; Gale DP; Aksenova M; Cerkauskaite A; Bielska O; Lipska-Zietkiewicz B; Gibson JT
    Clin J Am Soc Nephrol; 2022 Nov; 17(11):1697-1706. PubMed ID: 35675912
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
    Mastrangelo A; Madeira C; Castorina P; Giani M; Montini G
    Nephrol Dial Transplant; 2022 Nov; 37(12):2398-2407. PubMed ID: 35090027
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
    Kamiyoshi N; Nozu K; Fu XJ; Morisada N; Nozu Y; Ye MJ; Imafuku A; Miura K; Yamamura T; Minamikawa S; Shono A; Ninchoji T; Morioka I; Nakanishi K; Yoshikawa N; Kaito H; Iijima K
    Clin J Am Soc Nephrol; 2016 Aug; 11(8):1441-1449. PubMed ID: 27281700
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.
    Imafuku A; Nozu K; Sawa N; Hasegawa E; Hiramatsu R; Kawada M; Hoshino J; Tanaka K; Ishii Y; Takaichi K; Fujii T; Ohashi K; Iijima K; Ubara Y
    Nephrology (Carlton); 2018 Oct; 23(10):940-947. PubMed ID: 28704582
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.
    Cervera-Acedo C; Coloma A; Huarte-Loza E; Sierra-Carpio M; Domínguez-Garrido E
    BMC Nephrol; 2017 Oct; 18(1):325. PubMed ID: 29089023
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome.
    Girimaji N; Murugan Sm S; Nada R; Sharma A; Rathi M; Kohli HS; Gupta KL; Ramachandran R
    Nephrology (Carlton); 2020 Jun; 25(6):497-501. PubMed ID: 31925849
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.