151 related articles for article (PubMed ID: 20881942)
1. Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.
Becknell B; Zender GA; Houston R; Baker PB; McBride KL; Luo W; Hains DS; Borza DB; Schwaderer AL
Kidney Int; 2011 Jan; 79(1):120-7. PubMed ID: 20881942
[TBL] [Abstract][Full Text] [Related]
2. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. X-Linked Glomerulopathy Due to COL4A5 Founder Variant.
Barua M; John R; Stella L; Li W; Roslin NM; Sharif B; Hack S; Lajoie-Starkell G; Schwaderer AL; Becknell B; Wuttke M; Köttgen A; Cattran D; Paterson AD; Pei Y
Am J Kidney Dis; 2018 Mar; 71(3):441-445. PubMed ID: 29198386
[TBL] [Abstract][Full Text] [Related]
5. A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.
Wilson JC; Yoon HS; Walker RJ; Eccles MR
Nephrol Dial Transplant; 2007 May; 22(5):1338-46. PubMed ID: 17277342
[TBL] [Abstract][Full Text] [Related]
6. Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.
Krol RP; Nozu K; Nakanishi K; Iijima K; Takeshima Y; Fu XJ; Nozu Y; Kaito H; Kanda K; Matsuo M; Yoshikawa N
Nephrol Dial Transplant; 2008 Aug; 23(8):2525-30. PubMed ID: 18332068
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic heterogeneity in females with X-linked Alport syndrome.
Allred SC; Weck KE; Gasim A; Mottl AK
Clin Nephrol; 2015 Nov; 84(5):296-300. PubMed ID: 26249550
[TBL] [Abstract][Full Text] [Related]
8. X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
Demosthenous P; Voskarides K; Stylianou K; Hadjigavriel M; Arsali M; Patsias C; Georgaki E; Zirogiannis P; Stavrou C; Daphnis E; Pierides A; Deltas C;
Clin Genet; 2012 Mar; 81(3):240-8. PubMed ID: 21332469
[TBL] [Abstract][Full Text] [Related]
9. X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
Fu XJ; Nozu K; Eguchi A; Nozu Y; Morisada N; Shono A; Taniguchi-Ikeda M; Shima Y; Nakanishi K; Vorechovsky I; Iijima K
Clin Exp Nephrol; 2016 Oct; 20(5):699-702. PubMed ID: 26581810
[TBL] [Abstract][Full Text] [Related]
10. Collagen type IV nephropathy: genetic heterogeneity examinations in affected Hungarian families.
Endreffy E; Ondrik Z; Iványi B; Maróti Z; Bereczki C; Haszon I; Györke Z; Worum E; Németh K; Rikker C; Ökrös Z; Túri S
Mol Cell Probes; 2011 Feb; 25(1):28-34. PubMed ID: 20951199
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. X-linked Alport syndrome presenting in mother and son with the same unique histopathological features.
Bergeron NAD; Garneau AP; Rousseau-Gagnon M; Riopel J; Isenring P
J Nephrol; 2024 Apr; 37(3):769-772. PubMed ID: 38668984
[TBL] [Abstract][Full Text] [Related]
13. A novel frameshift mutation of COL4A5 in a Chinese family with presumed IgA nephropathy and chronic glomerulonephritis.
Zhu Q; Zhou C; Wang J
J Clin Lab Anal; 2020 Dec; 34(12):e23558. PubMed ID: 32893410
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Familial hematuria: A review.
Plevová P; Gut J; Janda J
Medicina (Kaunas); 2017; 53(1):1-10. PubMed ID: 28236514
[TBL] [Abstract][Full Text] [Related]
16. Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis.
Haas M
Arch Pathol Lab Med; 2009 Feb; 133(2):224-32. PubMed ID: 19195966
[TBL] [Abstract][Full Text] [Related]
17. Kidney Injury by Variants in the
Frese J; Kettwig M; Zappel H; Hofer J; Gröne HJ; Nagel M; Sunder-Plassmann G; Kain R; Neuweiler J; Gross O
Int J Mol Sci; 2019 Jan; 20(3):. PubMed ID: 30691124
[TBL] [Abstract][Full Text] [Related]
18. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J; Storey H; Il Cheong H; Gyung Kang H; Park E; Hilbert P; Persikov A; Torres-Fernandez C; Ars E; Torra R; Hertz JM; Thomassen M; Shagam L; Wang D; Wang Y; Flinter F; Nagel M
PLoS One; 2016; 11(9):e0161802. PubMed ID: 27627812
[TBL] [Abstract][Full Text] [Related]
19. COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.
Voskarides K; Damianou L; Neocleous V; Zouvani I; Christodoulidou S; Hadjiconstantinou V; Ioannou K; Athanasiou Y; Patsias C; Alexopoulos E; Pierides A; Kyriacou K; Deltas C
J Am Soc Nephrol; 2007 Nov; 18(11):3004-16. PubMed ID: 17942953
[TBL] [Abstract][Full Text] [Related]
20. Pathogenicity of a Human Laminin
Funk SD; Bayer RH; Malone AF; McKee KK; Yurchenco PD; Miner JH
J Am Soc Nephrol; 2018 Mar; 29(3):949-960. PubMed ID: 29263159
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]