BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

473 related articles for article (PubMed ID: 24130771)

  • 1. Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.
    Chatterjee R; Hoffman M; Cliften P; Seshan S; Liapis H; Jain S
    PLoS One; 2013; 8(10):e76360. PubMed ID: 24130771
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
    Malone AF; Phelan PJ; Hall G; Cetincelik U; Homstad A; Alonso AS; Jiang R; Lindsey TB; Wu G; Sparks MA; Smith SR; Webb NJ; Kalra PA; Adeyemo AA; Shaw AS; Conlon PJ; Jennette JC; Howell DN; Winn MP; Gbadegesin RA
    Kidney Int; 2014 Dec; 86(6):1253-9. PubMed ID: 25229338
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
    Papazachariou L; Papagregoriou G; Hadjipanagi D; Demosthenous P; Voskarides K; Koutsofti C; Stylianou K; Ioannou P; Xydakis D; Tzanakis I; Papadaki A; Kallivretakis N; Nikolakakis N; Perysinaki G; Gale DP; Diamantopoulos A; Goudas P; Goumenos D; Soloukides A; Boletis I; Melexopoulou C; Georgaki E; Frysira E; Komianou F; Grekas D; Paliouras C; Alivanis P; Vergoulas G; Pierides A; Daphnis E; Deltas C
    Clin Genet; 2017 Nov; 92(5):517-527. PubMed ID: 28632965
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease.
    Fan LL; Liu L; Luo FM; Du R; Wang CY; Dong Y; Liu JS
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1545. PubMed ID: 33159707
    [TBL] [Abstract][Full Text] [Related]  

  • 6. COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.
    Ozdemir G; Gulhan B; Atayar E; Saygılı S; Soylemezoglu O; Ozcakar ZB; Eroglu FK; Candan C; Demir BK; Soylu A; Yüksel S; Alpay H; Agbas A; Duzova A; Hayran M; Ozaltin F; Topaloglu R
    Pediatr Nephrol; 2020 Oct; 35(10):1941-1952. PubMed ID: 32394188
    [TBL] [Abstract][Full Text] [Related]  

  • 7.
    Zhang P; Zhuo L; Zou Y; Li G; Peng K
    Clin Nephrol; 2019 Aug; 92(2):98-102. PubMed ID: 31198170
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. COL4A3 mutations cause focal segmental glomerulosclerosis.
    Xie J; Wu X; Ren H; Wang W; Wang Z; Pan X; Hao X; Tong J; Ma J; Ye Z; Meng G; Zhu Y; Kiryluk K; Kong X; Hu L; Chen N
    J Mol Cell Biol; 2014 Dec; 6(6):498-505. PubMed ID: 25596306
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome.
    Wang Z; Jiang B; Jin S; Hu Z; Liu G
    Biomed Res Int; 2020; 2020():1626378. PubMed ID: 33524082
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.
    Lin F; Bian F; Zou J; Wu X; Shan J; Lu W; Yao Y; Jiang G; Gale DP
    BMC Nephrol; 2014 Nov; 15():175. PubMed ID: 25381091
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
    Gast C; Pengelly RJ; Lyon M; Bunyan DJ; Seaby EG; Graham N; Venkat-Raman G; Ennis S
    Nephrol Dial Transplant; 2016 Jun; 31(6):961-70. PubMed ID: 26346198
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.
    Deltas C; Savva I; Voskarides K; Papazachariou L; Pierides A
    Nephron; 2015; 130(4):271-80. PubMed ID: 26201269
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.
    Savige J; Harraka P
    Am J Kidney Dis; 2021 Dec; 78(6):857-864. PubMed ID: 34245817
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations.
    Choi M; Anistan YM; Eckardt KU; Gollasch M; Nickel P
    Nephron; 2019; 141(3):213-218. PubMed ID: 30661074
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.
    Papazachariou L; Demosthenous P; Pieri M; Papagregoriou G; Savva I; Stavrou C; Zavros M; Athanasiou Y; Ioannou K; Patsias C; Panagides A; Potamitis C; Demetriou K; Prikis M; Hadjigavriel M; Kkolou M; Loukaidou P; Pastelli A; Michael A; Lazarou A; Arsali M; Damianou L; Goutziamani I; Soloukides A; Yioukas L; Elia A; Zouvani I; Polycarpou P; Pierides A; Voskarides K; Deltas C
    PLoS One; 2014; 9(12):e115015. PubMed ID: 25514610
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 24.