Výsledky vyhledávání - "Alexey N. Tsygin"

Akademický článek

Autor: Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana V. Sergeeva, Olga V. Chumakova, Svetlana S. Paunova, Nurali Z. Zokirov, Olga V. Komarova, Tea V. Margieva, Vladimir K. Tatochenko, Maya D. Bakradze, Elena N. Tsygina, Olga I. Zrobok, Tatiana V. Vashurina, Irina N. Lupan, Mikhail Yu. Kagan, Alexey N. Tsygin

Publikováno v: Педиатрическая фармакология, Vol 16, Iss 3, Pp 144-148 (2019)

The clinical recommendations on management of children with Gitelman syndrome developed by the experts of the Union of pediatricians of Russia are presented in this article. Gitelman syndrome is a dysfunction of distal renal tubules with further deve

Externí odkaz: https://doaj.org/article/bbfa050147b44c95993c79977ac09003

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Akademický článek

Loop tubulopathies: Bartter’s syndrome

Publikováno v: Педиатрическая фармакология, Vol 16, Iss 2, Pp 85-90 (2019)

The authors provide a review of current clinical guidelines regarding medical care provided to children with Bartter’s syndrome — impaired renal tubular function (loop of Henle) with the development of hypokalemia, hypochloremia, metabolic alkalo

Externí odkaz: https://doaj.org/article/846b8deb1e164b068bb58c895ef61a6b

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Akademický článek

Distal Tubulopathy. Liddle Syndrome

Publikováno v: Педиатрическая фармакология, Vol 16, Iss 3, Pp 149-151 (2019)

The clinical recommendations on management of children with Liddle syndrome which is characterized by severe hypertension along with low activity levels of renin and aldosterone in blood plasma, hypokalemia and metabolic alkalosis, were developed by

Externí odkaz: https://doaj.org/article/9327fcbf9637428f868f787e338ba493

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Features of congenital and infantile nephrotic syndrome in Russian children

Autor: Anastasiia M. Milovanova, Petr V. Ananin, Tatiana V. Vashurina, Olga I. Zrobok, Alla B. Ryaposova, Alexandr A. Pushkov, Kirill V. Savostyanov, Alexey N. Tsygin

Publikováno v: Russian Pediatric Journal. 24:381-388

Introduction. Nephrotic syndrome (NS) with an onset in the first year of life is one of the actual problems in pediatric nephrology due to the limited therapeutic options, the ineffectiveness of immunosuppressive therapy, and inevitable progression t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::309736784c735a6c5e4dc4a766329bdd
https://doi.org/10.46563/1560-9561-2021-24-6-381-388

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Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

Autor: Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Anne M. Schijvens, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Fang Deng, Caroline Rousset-Rouviere, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Lina Maria Serna Higuita, Alaleh Gheissari, Nazym Nigmatullina, Marcin Tkaczyk, Halina Borzecka, Radovan Bogdanovic, Sevgi Mir, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Cui-Hua Liu, Shu-Zhen Sun, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan

Publikováno v: Kidney Int. 102, 592-603 (2022)
Scientia

Coenzyme Q10; Mitochondria; Steroid-resistant nephrotic syndrome Coenzima Q10; Mitocondrias; Síndrome nefrótico resistente a los esteroides Coenzim Q10; Mitocondris; Síndrome nefròtic resistent als esteroides Primary Coenzyme Q10 deficiency is a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e1e37391fef1cc876f8e121f4381fe
http://hdl.handle.net/10852/99032

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Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

Autor: Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F. Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun, Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Lina Maria Serna Higuita, Alaleh Gheissari, Nazym Nigmatullina, Marcin Tkaczyk, Halina Borzecka, Radovan Bogdanovic, Sevgi Mir, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Cui-Hua Liu, Shu-Zhen Sun, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan

Publikováno v: Kidney International, 102, 3, pp. 604-612
Kidney Int. 102, 604-612 (2022)
Kidney International, 102, 604-612

Contains fulltext : 283144.pdf (Publisher’s version ) (Open Access) Primary Coenzyme Q10 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynthesis leading to multidrug-resistant nephrotic syndrome as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84c27b3e90b69a46a805c20918a32ef
http://hdl.handle.net/10852/100389

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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Autor: Tom D. Bunney, Grant G. Kelley, Puneet Garg, Christian Becker, Alper Soylu, Dontscho Kerjaschki, Thomas Gudermann, Alexander Dietrich, Roxana Cleper, Jinhong Liu, Alexey N. Tsygin, Lina Basel-Vanagaite, Andreas Kispert, Caroline S. Sorli, Rannar Airik, Martin Pohl, Friedhelm Hildebrandt, Bettina E. Mucha, Matilda Katan, Martin Griebel, Alan V. Smrcka, Meera Goyal, Aysin Bakkaloglu, Katrin Hasselbacher, Bernward Hinkes, Rasheed Gbadegesin, John F. O'Toole, Rüdiger Waldherr, Massimo Attanasio, Roger C. Wiggins, Sudha Mudumana, Bryan L. Wharram, Christopher N. Vlangos, Edgar A. Otto, Asher D. Schachter, Lawrence B. Holzman, Fatih Ozaltin, Bethan E. Hoskins, Gudrun Nürnberg, Iain A. Drummond, Hassan Chaib, Dominik Seelow, Peter Nürnberg, Rakesh Verma, Shazia Ashraf, Dominik N. Müller, Hans Christian Hennies

Publikováno v: Nature Genetics. 38:1397-1405

Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional cloning, we identified mutations in the phospholipase C epsilon ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e48bc25306eb10553696ecbab090d6f
https://doi.org/10.1038/ng1918

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