TUBULOPATHY

作品数：5被引量：3H指数：1
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Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly
《Genes & Diseases》2022年第5期1301-1314,共14页Sebastian Sewerin Jorg Piontek Ria Schonauer Sonja Grunewald Angelika Rauch Steffen Neuber Carsten Bergmann Dorothee Gunzel Jan Halbritte 
supported by Deutsche Forschungsgemeinschaft(DFG)grants(No.GU 447/14-1,14-2 to DG,PI 837/4-1,4-2 to JP,and(No.HA 6908/2-1 to JH,respectively);by Else Kroner-Fresenius-Stiftung grant(No.2016_A52 to JH);JH receives additional funding from the DFG(No.6908/3-1);CB is an employee of Limbach and holds a part-time faculty appointment at the University of Freiburg;His research laboratory receives support from the DFG(No.BE 3910/8-1 and BE 3910/9-1);from the Federal Ministry of Education and Research(BMBF,No.01GM1903I and 01GM1903G).
Formation of claudin-10 based tight junctions(TJs)is paramount to paracellular Na+transport in multiple epithelia.Sequence variants in CLDN10 have been linked to HELIX syndrome,a salt-losing tubulopathy with altered h...
关键词：Claudin-10 HELIX syndrome Paracellular transport Salt-losing tubulopathy Tight junction 
Subclinical proximal tubulopathy in hepatitis B:The roles of nucleot(s)ide analogue treatment and the hepatitis B virus被引量：1
《World Journal of Hepatology》2020年第12期1326-1340,共15页Anais Brayette Marie Essig Paul Carrier Marilyne Debette-Gratien Anais Labrunie Sophie Alain Marianne Maynard Nathalie Ganne-Carrie Eric Nguyen-Khac Pauline Pinet Victor De Ledinghen Christophe Renou Philippe Mathurin Claire Vanlemmens Vincent Di Martino Anne Gervais Juliette Foucher Fouchard-Hubert Isabelle Julien Vergniol Isabelle Hourmand-Ollivier Daniel Cohen Xavier Duval Thierry Poynard Marc Bardou Armand Abergel Manh-Thong Dao Thierry Thevenot Jean-Baptiste Hiriart Valerie Canva Guillaume Lassailly Christine Aurières Nathalie Boyer Dominique Thabut Pierre-Henri Bernard Matthieu Schnee Dominique Larrey Bertrand Hanslik Severine Hommel Jeremie Jacques Veronique Loustaud-Ratti 
BACKGROUND The recommended monitoring tools for evaluating nucleot(s)ide analogue renal toxicity,such as estimated glomerular filtration rate(eGFR)and phosphatemia,are late markers of proximal tubulopathy.Multiple ear...
关键词：Hepatitis B virus Proximal tubulopathy Biomarkers Renal insufficiency Nucleoside analogues 
New SLC12A3 disease causative mutation of Gitelman's syndrome
《World Journal of Nephrology》2016年第6期551-555,共5页Teresa Grillone Miranda Menniti Francesco Bombardiere Marco Flavio Michele Vismara Stefania Belviso Fernanda Fabiani Nicola Perrotti Rodolfo Iuliano Emma Colao 
Gitelman's syndrome(GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the thiazidesensitive Na Cl cotransporter. In this study we report a new m...
关键词：Gitelman’s syndrome Thiazide-sensitive NaCl cotransporter Frame-shift mutation TUBULOPATHY SLC12A3 gene 
Clinical Analysis of a Hypokalemic Salt-losing Tubulopathy Case被引量：2
《Chinese Medical Journal》2016年第5期601-603,共3页Wei Zheng Quan Hong Xue-Guang Zhang Xiao-Dong Geng Guang-Yan Cai Xiang-Mei Chen Di Wu 
Hypokalemia is among the most common electrolyte disorders in clinical practice and severe condition is life-threatening and has received extensive attention in clinical practice. Genetic diagnosis remains the gold st...
关键词：DIAGNOSIS Gene Screening HYPOKALEMIA 
Hypokalemic Paresis Revealing a Primary Sjogren’s Syndrome
《Open Journal of Internal Medicine》2015年第3期33-36,共4页Madiha Mahfoudhi Hedia Bellali Imen Gorsane Mounira El Euch Sami Turki Taieb Ben Abdallah 
Hypokalemic acidosis can complicate a primary Sjögren’s syndrome. The clinical feature is rarely revealed by manifestations due to hypokalemia. We report the case of a 46-year-old woman, admitted to explore a pa...
关键词：Sjogren’s Syndrome HYPOKALEMIA Interstitial Nephritis TUBULOPATHY 
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