X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.

Autor: Demosthenous, P, Voskarides, K, Stylianou, K, Hadjigavriel, M, Arsali, M, Patsias, C, Georgaki, E, Zirogiannis, P, Stavrou, C, Daphnis, E, Pierides, A, Deltas, C

Publikováno v: Clinical Genetics; Mar2012, Vol. 81 Issue 3, p240-248, 9p, 1 Diagram, 1 Chart, 1 Graph

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.

Autor: Voskarides K; Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus., Stefanou C; Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus., Pieri M; Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus., Demosthenous P; Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus., Felekkis K; Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus., Arsali M; Department of Nephrology, Limassol General Hospital, Limassol, Cyprus., Athanasiou Y; Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus., Xydakis D; Department of Nephrology, University of Crete, Heraklion, Crete, Greece., Stylianou K; Department of Nephrology, University of Crete, Heraklion, Crete, Greece., Daphnis E; Department of Nephrology, University of Crete, Heraklion, Crete, Greece., Goulielmos G; Department of Internal Medicine, Section of Molecular Medicine and Human Genetics, Medical School, University of Crete, Heraklion, Greece., Loizou P; Private Clinical Laboratory, Paralimni, Cyprus., Savige J; Department of Medicine, The University of Melbourne, Northern Health, Epping, Australia., Höhne M; Department 2 of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Systems Biology of Ageing Cologne (Sybacol), University of Cologne, Cologne, Germany., Völker LA; Department 2 of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Benzing T; Department 2 of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Systems Biology of Ageing Cologne (Sybacol), University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany., Maxwell PH; Division of Medicine, University College London, London, United Kingdom., Gale DP; UCL Centre for Nephrology, University College London, London, United Kingdom., Gorski M; Department of Nephrology, University Hospital Regensburg, Regensburg, Germany.; Department of Genetic Epidemiology, University Regensburg, Regensburg, Germany., Böger C; Department of Nephrology, University Hospital Regensburg, Regensburg, Germany., Kollerits B; Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria., Kronenberg F; Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria., Paulweber B; First Department of Internal Medicine, Paracelsus Private Medical University Salzburg, Salzburg, Austria., Zavros M; Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus., Pierides A; Department of Nephrology, Hippocrateon Hospital, Nicosia, Cyprus., Deltas C; Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus.

Publikováno v: PloS one [PLoS One] 2017 Mar 23; Vol. 12 (3), pp. e0174274. Date of Electronic Publication: 2017 Mar 23 (Print Publication: 2017).

Genetic diagnosis of Alport syndrome in 16 Chinese families.

Autor: Xiao, Tangli¹ (AUTHOR), Zhang, Jun¹ (AUTHOR), Liu, Li¹ (AUTHOR), Zhang, Bo¹ (AUTHOR) bo_zhang@tmmu.edu.cn

Publikováno v: Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-7. 7p.

Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.

Autor: Liang, Lei¹ (AUTHOR), Wu, Haotian² (AUTHOR), Cai, Zeyu³ (AUTHOR), Zhao, Jianrong³ (AUTHOR) 547449358@qq.com

Publikováno v: BMC Medical Genomics. 8/18/2023, Vol. 16 Issue 1, p1-14. 14p.

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.

Autor: Voskarides K; Department of Biological Sciences, Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Kallipoleos 75, 1678 Nicosia, Cyprus., Arsali M, Athanasiou Y, Elia A, Pierides A, Deltas C

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2012 Apr; Vol. 27 (4), pp. 675-9. Date of Electronic Publication: 2012 Jan 08.