Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis

Autor: Papazachariou, L. Papagregoriou, G. Hadjipanagi, D. and Demosthenous, P. Voskarides, K. Koutsofti, C. Stylianou, K. and Ioannou, P. Xydakis, D. Tzanakis, I. Papadaki, A. and Kallivretakis, N. Nikolakakis, N. Perysinaki, G. Gale, D. P. and Diamantopoulos, A. Goudas, P. Goumenos, D. Soloukides, A. Boletis, I. Melexopoulou, C. Georgaki, E. Frysira, E. and Komianou, F. Grekas, D. Paliouras, C. Alivanis, P. and Vergoulas, G. Pierides, A. Daphnis, E. Deltas, C.

Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical course

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::21ff696ec611d32ae1082f117d2b02ab
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3176664

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Autor: 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, D.P., Diamantopoulos, A., Goudas, P., Goumenos, D., Soloukides, A., Boletis, I.

Publikováno v: Clinical Genetics; Nov2017, Vol. 92 Issue 5, p517-527, 12p, 1 Color Photograph, 1 Diagram, 4 Charts

Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report.

Autor: Uedono, Hideki¹ (AUTHOR), Mori, Katsuhito² (AUTHOR), Nakatani, Shinya¹ (AUTHOR), Watanabe, Kohei¹ (AUTHOR), Nakaya, Rino¹ (AUTHOR), Morioka, Fumiyuki¹ (AUTHOR), Sone, Kazuma¹ (AUTHOR), Ono, Chie³ (AUTHOR), Hotta, Junko³ (AUTHOR), Tsuda, Akihiro¹ (AUTHOR), Morisada, Naoya⁴ (AUTHOR), Seto, Toshiyuki³ (AUTHOR), Nozu, Kandai⁴ (AUTHOR), Emoto, Masanori^1,2 (AUTHOR)

Publikováno v: Case Reports in Nephrology & Dialysis. Jan-Dec2024, Vol. 14 Issue 1, p1-9. 9p.

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.

Autor: Papazachariou L; Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus., Demosthenous P; Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus., Pieri M; Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus., Papagregoriou G; Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus., Savva I; Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus., Stavrou C; Department of Nephrology, Evangelismos Hospital, Pafos, Cyprus., Zavros M; Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus., Athanasiou Y; Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus., Ioannou K; Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus., Patsias C; Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus., Panagides A; Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus., Potamitis C; Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus., Demetriou K; Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus., Prikis M; Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus., Hadjigavriel M; Department of Nephrology, Larnaca General Hospital, Larnaca, Cyprus., Kkolou M; Department of Nephrology, Larnaca General Hospital, Larnaca, Cyprus., Loukaidou P; Department of Nephrology, Larnaca General Hospital, Larnaca, Cyprus., Pastelli A; Department of Nephrology, Larnaca General Hospital, Larnaca, Cyprus., Michael A; Department of Nephrology, Limassol General Hospital, Limassol, Cyprus., Lazarou A; Department of Nephrology, Limassol General Hospital, Limassol, Cyprus., Arsali M; Department of Nephrology, Limassol General Hospital, Limassol, Cyprus., Damianou L; Department of Nephrology, Limassol General Hospital, Limassol, Cyprus., Goutziamani I; Department of Nephrology, Limassol General Hospital, Limassol, Cyprus., Soloukides A; Department of Nephrology, Limassol General Hospital, Limassol, Cyprus., Yioukas L; Department of Nephrology, Paphos General Hospital, Paphos, Cyprus., Elia A; Department of Pediatrics, Archbishop Makarios III Hospital, Nicosia, Cyprus., Zouvani I; Department of Histopathology, Nicosia General Hospital, Nicosia, Cyprus., Polycarpou P; Department of Nephrology, Apollonion Private Hospital, Nicosia, Cyprus., Pierides A; Department of Nephrology, Hippocrateon Hospital, Nicosia, Cyprus., Voskarides K; Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus., Deltas C; Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus.

Publikováno v: PloS one [PLoS One] 2014 Dec 16; Vol. 9 (12), pp. e115015. Date of Electronic Publication: 2014 Dec 16 (Print Publication: 2014).

Epistatic role of the MYH9/APOL1 region on familial hematuria genes.

Autor: Voskarides K; Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus., Demosthenous P, Papazachariou L, Arsali M, Athanasiou Y, Zavros M, Stylianou K, Xydakis D, Daphnis E, Gale DP, Maxwell PH, Elia A, Pattaro C, Pierides A, Deltas C

Publikováno v: PloS one [PLoS One] 2013; Vol. 8 (3), pp. e57925. Date of Electronic Publication: 2013 Mar 14.