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27 results on '"Cicek, Dilek"'

5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

Author

Cicek, Dilek, primary, Warr, Nick, additional, Yesil, Gozde, additional, Kocak Eker, Hatice, additional, Bas, Firdevs, additional, Poyrazoglu, Sukran, additional, Darendeliler, Feyza, additional, Direk, Gul, additional, Hatipoglu, Nihal, additional, Eltan, Mehmet, additional, Yavas Abalı, Zehra, additional, Gurpinar Tosun, Busra, additional, Kaygusuz, Sare Betul, additional, Seven Menevse, Tuba, additional, Helvacioglu, Didem, additional, Turan, Serap, additional, Bereket, Abdullah, additional, Reeves, Richard, additional, Simon, Michelle, additional, Mackenzie, Matthew, additional, Teboul, Lydia, additional, Greenfield, Andy, additional, and Guran, Tulay, additional

Published
2021
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8. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.

Author

Cicek, Dilek, Warr, Nick, Yesil, Gozde, Eker, Hatice Kocak, Bas, Firdevs, Poyrazoglu, Sukran, Darendeliler, Feyza, Direk, Gul, Hatipoglu, Nihal, Eltan, Mehmet, Abali, Zehra Yavas, Tosun, Busra Gurpinar, Kaygusuz, Sare Betul, Menevse, Tuba Seven, Helvacioglu, Didem, Turan, Serap, Bereket, Abdullah, Reeves, Richard, Simon, Michelle, and Mackenzie, Matthew

Subjects
*GONADAL dysgenesis, *GENETIC variation, *ANTI-Mullerian hormone, *FOLLICLE-stimulating hormone, *KNOCKOUT mice
Abstract

Context: Homozygous and heterozygous variants in PPP2R3C are associated with syndromic 46,XY complete gonadal dysgenesis (Myo-Ectodermo-Gonadal Dysgenesis (MEGD) syndrome), and impaired spermatogenesis, respectively. This study expands the role of PPP2R3C in the aetiology of gonadal dysgenesis (GD). Method: We sequenced the PPP2R3C gene in four new patients from three unrelated families. The clinical, laboratory, and molecular characteristics were investigated. We have also determined the requirement for Ppp2r3c in mice (C57BL6/N) using CRISPR/Cas9 genome editing. Results: A homozygous c.578T>C (p.L193S) PPP2R3C variant was identified in one 46,XX girl with primary gonadal insufficiency, two girls with 46,XY complete GD, and one undervirilised boy with 46,XY partial GD. The patients with complete GD had low gonadal and adrenal androgens, low anti-Müllerian hormone, and high follicle-stimulating hormone and luteinizing hormone concentrations. All patients manifested characteristic features of MEGD syndrome. Heterozygous Ppp2r3c knockout mice appeared overtly normal and fertile. Inspection of homozygous embryos at 14.5, 9.5, and 8.5 days post coitum (dpc) revealed evidence of dead embryos. We conclude that loss of function of Ppp2r3c is not compatible with viability in mice and results in embryonic death from 7.5 dpc or earlier. Conclusion: Our data indicate the essential roles for PPP2R3C in mouse and human development. Germline homozygous variants in human PPP2R3C are associated with distinctive syndromic GD of varying severity in both 46,XY and 46,XX individuals. [ABSTRACT FROM AUTHOR]

Published
2022
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13. The distribution of circulating microRNA and their relation to coronary disease

Author

Freedman, Jane E, primary, Ercan, Bahadir, additional, Morin, Kristine M, additional, Liu, Ching-Ti, additional, Tamer, Lulufer, additional, Ayaz, Lokman, additional, Kanadasi, Mehmet, additional, Cicek, Dilek, additional, Seyhan, Ali Ihsan, additional, Akilli, Rabia Eker, additional, Camci, Celalettin, additional, Cengiz, Beyhan, additional, Oztuzcu, Serdar, additional, and Tanriverdi, Kahraman, additional

Published
2012
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21. Increased Incidence of Carotid Artery Wall Changes and Associated Variables in Hemodialysis Patients without Symptomatic Cardiovascular Disease

Author

Kiykim, Ahmet A, primary, Camsarı, Ahmet, additional, Kahraman, Serkan, additional, Arici, Mustafa, additional, Altun, Bulent, additional, Cicek, Dilek, additional, Erdem, Yunus, additional, Yasavul, Unal, additional, Turgan, Cetin, additional, Cağlar, Sali, additional, and Oto, Aytekin, additional

Published
2004
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27. Procedural results and distal embolization after saphenous vein graft stenting and angioplasty for in-stent restenosis of grafts.

Author

Cicek D, Doven O, Pekdemir H, Camsari A, Akkus NM, Cin GV, Parmaksiz T, and Katircibasi T

Subjects
Aged, Coronary Artery Bypass adverse effects, Embolism etiology, Embolism therapy, Female, Graft Occlusion, Vascular etiology, Graft Occlusion, Vascular physiopathology, Humans, Incidence, Male, Middle Aged, Prosthesis Implantation methods, Retrospective Studies, Saphenous Vein physiopathology, Treatment Outcome, Angioplasty, Balloon, Coronary methods, Embolism epidemiology, Graft Occlusion, Vascular therapy, Saphenous Vein transplantation, Stents
Abstract

Saphenous vein graft (SVG) angioplasty is associated with frequent periprocedural complications due to distal embolization and a high risk of restenosis. The purpose of this single-center, retrospective study was to determine the distal embolization incidences and outcomes of stenting for SVG lesions and percutaneous angioplasty for in-stent restenosis of these SVGs. We studied 48 consecutive patients (mean age, 62 +/- 7 years, 92% men) who had prior CABG and underwent stent deployment to SVG lesions detected at our institution over a period of 4 years. Mean lesion length was 12.4 +/- 3.2 mm. The minimal lumen diameter increased from 0.7 +/- 0.3 mm to 3.2 +/- 0.4 mm after stenting. Distal embolization as no reflow/slow flow phenomenon occurred in 5 (10%) patients. Angiographic success was achieved in 98% of the patients. Procedural success was achieved in 96% of the patients. No reflow/slow flow phenomenon was observed, particularly in patients with acute coronary syndrome. During the follow-up, 11 patients (23%) had angiographic evidence of restenosis. Lesions were treated with balloon angioplasty and the minimal lumen diameter increased from 2.6 +/- 1.1 mm to 3.1 +/- 0.3 mm. The angiographic and procedural success rates were both 100%. There were no cases of "no" reflow/slow flow. Restenosis was particularly frequent in patients with diabetes mellitus, hypercholesterolemia, and acute coronary syndrome. Stent implantation in patients with de novo SVG lesions can be achieved with a high rate of angiographic and procedural success. The distal embolization risk is lower during angioplasty of in-stent restenosis lesions of SVGs compared to de novo SVG lesions.

Published
2004
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