228 related articles for article (PubMed ID: 36925663)
1. Kidney Disease Associated With Mono-allelic
Groen In 't Woud S; Rood IM; Steenbergen E; Willemsen B; Dijkman HB; van Geel M; Schoots J; Wetzels JFM; Lugtenberg D; Deegens JKJ; Bongers EMHF
Kidney Med; 2023 Apr; 5(4):100607. PubMed ID: 36925663
[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. Identification of 27 Novel Variants in Genes
Cerkauskaite A; Savige J; Janonyte K; Jeremiciute I; Miglinas M; Kazenaite E; Laurinavicius A; Strupaite-Sileikiene R; Vainutiene V; Burnyte B; Jankauskiene A; Rolfs A; Bauer P; Schröder S; Cerkauskiene R
Front Med (Lausanne); 2022; 9():859521. PubMed ID: 35419377
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Thin basement membrane nephropathy.
Savige J; Rana K; Tonna S; Buzza M; Dagher H; Wang YY
Kidney Int; 2003 Oct; 64(4):1169-78. PubMed ID: 12969134
[TBL] [Abstract][Full Text] [Related]
7. Mutation Analysis of Thin Basement Membrane Nephropathy.
Hirabayashi Y; Katayama K; Mori M; Matsuo H; Fujimoto M; Joh K; Murata T; Ito M; Dohi K
Genes (Basel); 2022 Oct; 13(10):. PubMed ID: 36292665
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
Voskarides K; Papagregoriou G; Hadjipanagi D; Petrou I; Savva I; Elia A; Athanasiou Y; Pastelli A; Kkolou M; Hadjigavriel M; Stavrou C; Pierides A; Deltas C
BMC Nephrol; 2018 May; 19(1):114. PubMed ID: 29764427
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.
Buzza M; Wang YY; Dagher H; Babon JJ; Cotton RG; Powell H; Dowling J; Savige J
Kidney Int; 2001 Aug; 60(2):480-3. PubMed ID: 11473630
[TBL] [Abstract][Full Text] [Related]
16. Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
Yuan X; Su Q; Wang H; Shi S; Liu L; Lv J; Wang S; Zhu L; Zhang H
J Am Soc Nephrol; 2023 Jan; 34(1):132-144. PubMed ID: 36130833
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Heterozygous Pathogenic
Savige J
Kidney Int Rep; 2022 Sep; 7(9):1933-1938. PubMed ID: 36090501
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
