Differential diagnosis of classical Bartter syndrome and Gitelman syndrome: Do we need genetic analysis?

Autor: Neslihan Cicek, Ceren Alavanda, Ece Bodur Demirci, Serçin Güven, Ibrahim Gökce, Nurdan Yildiz, Harika Alpay, Mehtap Sak, Pinar Ata, Özde Nisa Türkkan, Serim Pul

Publikováno v: Volume: 34, Issue: 3 254-259
Marmara Medical Journal

Objective: Classical Bartter syndrome (cBS) and Gitelman syndrome (GS) are genotypically distinct, but there is a phenotypic overlapamong these two diseases, which can complicate the accurate diagnosis without genetic analysis. This study aimed to ev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faff3f8b302a865addf6725e2f2cdd7f
https://doi.org/10.5472/marumj.1012351

Investigations of Cardiac Functions and Organ Damages in Neonatal Calves with Suscepted Sepsis

Autor: Yasemin Beydilli, Halil İbrahim Gökce

Publikováno v: Volume: 5, Issue: 3 140-145
Veterinary Journal of Mehmet Akif Ersoy University

The aims of the present study were to determine cardiac dysfunction and organ damages in neonatal calves with suspected sepsis. In the study, 20 neonatal calves with suscepted sepsis and 10 clinically healthy neonatal calves were used. Sera were coll

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed33d600cf5d9fea65184f9602e0acf
https://doi.org/10.24880/maeuvfd.815632

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features

Autor: Abdullah Bereket, Ceren Alavanda, Ayberk Türkyılmaz, Serap Turan, Ibrahim Gökce, Tulay Guran, Şükrü Hatun, Zehra Yavas Abali, Mehmet Eltan, Ahmet Arman, Saygin Abali, Tarik Kirkgoz

Biallelic loss of function mutations in the CLDN16 gene cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and chronic kidney disease. Here we report two cases of FHHNC with diverse clinical presentations and hypercalcemi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e04bf2fce1d32729919ce00cd9b7b3d
https://hdl.handle.net/11424/243653

PROGRESS STUDY: Progression of chronic kidney disease in children and heat shock proteins

Autor: Ilmay Bilge, Nilüfer Göknar, Nurver Akinci, Zeynep Nagehan Yürük Yildirim, Sebahat Tulpar, Asuman Gedikbasi, Ahmet Dirican, Gul Ozcelik, Alev Yilmaz, Cemile Pehlivanoglu, Sevgi Yavuz, Nurdan Yildiz, Ayşe Ağbaş, Nuran Kucuk, Ibrahim Gökce, Seha Saygili, Sebahat Akgul, Harika Alpay, Mehmet Taşdemir, Ahmet Nayir, Nese Ozkayin, Bağdagül Aksu, Sevinç Emre, Aysel Kiyak, Fatma Oguz

Publikováno v: Cell Stress Chaperones

Various molecular and cellular processes are involved in renal fibrosis, such as oxidative stress, inflammation, endothelial cell injury, and apoptosis. Heat shock proteins (HSPs) are implicated in the progression of chronic kidney disease (CKD). Our

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f612e21b2729e5bf52826cbcbc2e646
https://pubmed.ncbi.nlm.nih.gov/34671941

Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Autor: Alper Soylu, Elke Wühl, Max C. Liebau, Guillaume Dorval, Wanja Bernhardt, Rukshana Shroff, Salim Caliskan, Laura Massella, Gordana Miloševski-Lomić, Ludwig Patzer, Juan David Gonzalez Rodriguez, Klaus Zerres, Katarzyna Taranta-Janusz, Francisco de la Cerda Ojeda, Bahriye Atmis, Bodo B. Beck, Jens König, Nadejda Ranguelov, Claudia Kowalewska, Jörg Dötsch, Florian Erger, Augustina Jankauskiene, Alberto Caldas Afonso, Markus Feldkoetter, Svetlana Papizh, Olivia Boyer, Jérôme Harambat, Franziska Grundmann, Matthias Galiano, Jun Oh, Claire Dossier, Jacques Lombet, Dieter Haffner, Gema Ariceta, Raphael Schild, Ismail Dursun, Ibrahim Gökce, Stella Stabouli, Marcus R. Benz, Rina Rus, Martin Bald, Michaela Gessner, Mieczysław Litwin, Neveen A. Soliman, Djalila Mekahli, Francesco Emma, Nurver Akinci, Loai A. Eid, Cengiz Candan, Alev Yilmaz, Anja Buescher, Lale Sever, Barbara Uetz, Julia Thumfart, Donald Wurm, Beata Bienias, Nadina Ortiz-Bruechle, Ali Duzova, Germana Longo, Przemysław Sikora, Oliver Gross, Susanne Schaefer, Yılmaz Tabel, Sabine Ponsel, Karsten Häffner, Franz Schaefer, Antonio Mastrangelo, Ana Teixeira, Bruno Ranchin, Günter Klaus, Maria Szczepańska, Claudia Dafinger, Andreea Rachisan, Monika Miklaszewska, Aurélie De Mul, Hulya Nalcacioglu, Sevgi Mir, Denis Morin, Katarzyna Zachwieja, Bärbel Lange-Sperandio, William Morello, Marc Fila, Jan Halbritter, Houweyda Jilani, Ute Derichs, Aurelia Morawiec-Knysak, Laure Collard, Małgorzata Stańczyk, Felix Lechner, Francesca Mencarelli, Jakub Zieg, Oliver Dunand, Klaus Arbeiter, Kathrin Burgmaier, Carsten Bergmann, Ilona Zagozdzon, Tomáš Seeman, Larisa Prikhodina, Nakysa Hooman, Lutz T. Weber, Björn Buchholz, Leonie Brinker, Nathalie Godefroid, Simone Wygoda, Hagen Staude

Publikováno v: Kidney international, Vol. 100, no.3, p. 650-659 (2021)

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the lar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8d4bc309906dd46993a944c7188b5c
https://hdl.handle.net/20.500.12831/6664