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Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.
Żurowska AM, Bielska O, Daca-Roszak P, Jankowski M, Szczepańska M, Roszkowska-Bjanid D, Kuźma-Mroczkowska E, Pańczyk-Tomaszewska M, Moczulska A, Drożdż D, Hadjipanagi D, Deltas C, Ostalska-Nowicka D, Rabiega A, Taraszkiewicz J, Taranta-Janusz K, Wieczorkiewicz-Plaza A, Jobs K, Mews J, Musiał K, Jakubowska A, Nosek H, Jander AE, Koutsofti C, Stanisławska-Sachadyn A, Kuleszo D, Ziętkiewicz E, Lipska-Ziętkiewicz BS. Żurowska AM, et al. Among authors: koutsofti c. Kidney Int. 2021 Jun;99(6):1451-1458. doi: 10.1016/j.kint.2020.10.040. Epub 2020 Dec 10. Kidney Int. 2021. PMID: 33309955 Free article.
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. Papazachariou L, et al. Among authors: koutsofti c. Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25. Clin Genet. 2017. PMID: 28632965
Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.
Hadjipanagi D, Papagregoriou G, Koutsofti C, Polydorou C, Alivanis P, Andrikos A, Christodoulidou S, Dardamanis M, Diamantopoulos AA, Fountoglou A, Frangou E, Georgaki E, Giannikouris I, Gkinis V, Goudas PC, Kalaitzidis RG, Kaperonis N, Koutroumpas G, Makrydimas G, Myserlis G, Mitsioni A, Paliouras C, Papachristou F, Papadopoulou D, Papagalanis N, Papagianni A, Perysinaki G, Siomou E, Sombolos K, Tzanakis I, Vergoulas GV, Printza N, Deltas C. Hadjipanagi D, et al. Among authors: koutsofti c. Genes (Basel). 2022 Nov 24;13(12):2203. doi: 10.3390/genes13122203. Genes (Basel). 2022. PMID: 36553470 Free PMC article.
Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.
Koutsofti C, Ioannides M, Polydorou C, Papagregoriou G, Malatras A, Michael G, Hadjiioannou I, Pieri S, Loizidou EM, Eftychiou C, Papasavvas E, Christophides T, Alkelai A, Kapoor M, Shuldiner AR, Avraamides P, Deltas C. Koutsofti C, et al. Genes (Basel). 2024 Feb 28;15(3):319. doi: 10.3390/genes15030319. Genes (Basel). 2024. PMID: 38540378 Free PMC article.