Zobrazeno 1 - 10
of 231
pro vyhledávání: '"Robert Kleta"'
Autor:
Katrin Meindl, Naomi Issler, Sara Afonso, Alberto Cebrian-Serrano, Karin Müller, Christina Sterner, Helga Othmen, Ines Tegtmeier, Ralph Witzgall, Enriko Klootwijk, Benjamin Davies, Robert Kleta, Richard Warth
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Normal function of the C-terminal Eps15 homology domain-containing protein 1 (EHD1) has previously been associated with endocytic vesicle trafficking, shaping of intracellular membranes, and ciliogenesis. We recently identified an autosomal recessive
Externí odkaz:
https://doaj.org/article/fd42d22c6ae24e04acdfb7eeea4fccc3
Autor:
Patrick Hamilton, Kieran Blaikie, Stephen A Roberts, Matthew Gittins, Mallory L Downie, Sanjana Gupta, Catalin Voinescu, Durga Kanigicherla, Horia Stanescu, Robert Kleta, Paul Brenchley
Publikováno v:
PLoS ONE, Vol 18, Iss 4, p e0281795 (2023)
BackgroundDespite MN being one of the most common causes of nephrotic syndrome worldwide, its biological and environmental determinants are poorly understood in large-part due to it being a rare disease. Making use of the UK Biobank, a unique resourc
Externí odkaz:
https://doaj.org/article/4f56f781985d4549bd09452989ed66ef
Autor:
Melanie MY Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, Alina C Hilger, Horia C Stanescu, Catalin D Voinescu, Glenda M Beaman, William G Newman, Marcin Zaniew, Stefanie Weber, Yee Mang Ho, John O Connolly, Dan Wood, Carlo Maj, Alexander Stuckey, Athanasios Kousathanas, Genomics England Research Consortium, Robert Kleta, Adrian S Woolf, Detlef Bockenhauer, Adam P Levine, Daniel P Gale
Publikováno v:
eLife, Vol 11 (2022)
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association study (seqGWAS) in 132 unrelat
Externí odkaz:
https://doaj.org/article/b936c97484754cea89d1fbd490886997
Autor:
Mallory L. Downie, Sanjana Gupta, Mehmet C. Tekman, Chris Cheshire, Steven Arora, Christoph Licht, Lisa A. Robinson, Marina Munoz, Alvaro Madrid Aris, Ibrahim Al Attrach, Paul E. Brenchley, Daniel P. Gale, Horia Stanescu, Detlef Bockenhauer, Robert Kleta
Publikováno v:
Kidney International Reports, Vol 6, Iss 6, Pp 1669-1676 (2021)
Introduction: Membranous nephropathy (MN) is the most common cause of nephrotic syndrome (NS) in adults and is a leading cause of end-stage renal disease due to glomerulonephritis. Primary MN has a strong male predominance, accounting for approximate
Externí odkaz:
https://doaj.org/article/7495b30390934ecabcddf3177bbffa5f
Autor:
Sanjana Gupta, Mallory Louise Downie, Chris Cheshire, Stephanie Dufek-Kamperis, Adam Paul Levine, Paul Brenchley, Elion Hoxha, Rolf Stahl, Neil Ashman, Ruth Jennifer Pepper, Sean Mason, Jill Norman, Detlef Bockenhauer, Horia Constantin Stanescu, Robert Kleta, Daniel Philip Gale
Publikováno v:
Glomerular Diseases, Pp 1-1 (2023)
Introduction: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults and is characterized by detectable autoantibodies against glomerular antigens, most commonly phospholipase A2 receptor 1 (PLA2R1) and thrombospondin type-1
Externí odkaz:
https://doaj.org/article/3b47b60e1e6c4a1fbf54d402c46b9d80
Autor:
Jingyuan Xie, Lili Liu, Nikol Mladkova, Yifu Li, Hong Ren, Weiming Wang, Zhao Cui, Li Lin, Xiaofan Hu, Xialian Yu, Jing Xu, Gang Liu, Yasar Caliskan, Carlo Sidore, Olivia Balderes, Raphael J. Rosen, Monica Bodria, Francesca Zanoni, Jun Y. Zhang, Priya Krithivasan, Karla Mehl, Maddalena Marasa, Atlas Khan, Fatih Ozay, Pietro A. Canetta, Andrew S. Bomback, Gerald B. Appel, Simone Sanna-Cherchi, Matthew G. Sampson, Laura H. Mariani, Agnieszka Perkowska-Ptasinska, Magdalena Durlik, Krzysztof Mucha, Barbara Moszczuk, Bartosz Foroncewicz, Leszek Pączek, Ireneusz Habura, Elisabet Ars, Jose Ballarin, Laila-Yasmin Mani, Bruno Vogt, Savas Ozturk, Abdülmecit Yildiz, Nurhan Seyahi, Hakki Arikan, Mehmet Koc, Taner Basturk, Gonca Karahan, Sebahat Usta Akgul, Mehmet Sukru Sever, Dan Zhang, Domenico Santoro, Mario Bonomini, Francesco Londrino, Loreto Gesualdo, Jana Reiterova, Vladimir Tesar, Claudia Izzi, Silvana Savoldi, Donatella Spotti, Carmelita Marcantoni, Piergiorgio Messa, Marco Galliani, Dario Roccatello, Simona Granata, Gianluigi Zaza, Francesca Lugani, GianMarco Ghiggeri, Isabella Pisani, Landino Allegri, Ben Sprangers, Jin-Ho Park, BeLong Cho, Yon Su Kim, Dong Ki Kim, Hitoshi Suzuki, Antonio Amoroso, Daniel C. Cattran, Fernando C. Fervenza, Antonello Pani, Patrick Hamilton, Shelly Harris, Sanjana Gupta, Chris Cheshire, Stephanie Dufek, Naomi Issler, Ruth J. Pepper, John Connolly, Stephen Powis, Detlef Bockenhauer, Horia C. Stanescu, Neil Ashman, Ruth J. F. Loos, Eimear E. Kenny, Matthias Wuttke, Kai-Uwe Eckardt, Anna Köttgen, Julia M. Hofstra, Marieke J. H. Coenen, Lambertus A. Kiemeney, Shreeram Akilesh, Matthias Kretzler, Lawrence H. Beck, Benedicte Stengel, Hanna Debiec, Pierre Ronco, Jack F. M. Wetzels, Magdalena Zoledziewska, Francesco Cucca, Iuliana Ionita-Laza, Hajeong Lee, Elion Hoxha, Rolf A. K. Stahl, Paul Brenchley, Francesco Scolari, Ming-hui Zhao, Ali G. Gharavi, Robert Kleta, Nan Chen, Krzysztof Kiryluk
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Membranous nephropathy (MN) is a rare autoimmune disease of podocyte-directed antibodies, such as anti-phospholipase A2 receptor. Here, the authors report a genome-wide association study for MN and identify two previously unreported loci encompassing
Externí odkaz:
https://doaj.org/article/673c37d7cf9b414b91486e389bd81da8
Autor:
Sumaya Islam, Mehmet Tekman, Sarah E. Flanagan, Lisa Guay‐Woodford, Khalid Hussain, Sian Ellard, Robert Kleta, Detlef Bockenhauer, Horia Stanescu, Daniela Iancu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Background Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.‐167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in h
Externí odkaz:
https://doaj.org/article/3bdb0ccb493343a698b2d7364bc467a8
Autor:
Vaksha Patel, Enriko Klootwijk, Gail Whiting, Detlef Bockenhauer, Keith Siew, Stephen Walsh, Markus Bleich, Nina Himmerkus, Graciana Jaureguiberry, Naomi Issler, Jasminka Godovac‐Zimmermann, Robert Kleta, Jun Wheeler
Publikováno v:
Physiological Reports, Vol 9, Iss 24, Pp n/a-n/a (2021)
Abstract Background FAM20A, a recently discovered protein, is thought to have a fundamental role in inhibiting ectopic calcification. Several studies have demonstrated that variants of FAM20A are causative for the rare autosomal recessive disorder, e
Externí odkaz:
https://doaj.org/article/80a630499ac540e6958c0a93f756c594
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
The mitochondria of the proximal tubule are essential for providing energy in this nephron segment, whose ATP generation is almost exclusively oxygen dependent. In addition, mitochondria are involved in a variety of metabolic processes and complex si
Externí odkaz:
https://doaj.org/article/2d9ae1f8b8a345c6b3257a0d46db60c7
Autor:
Shazia Adalat, Wesley N. Hayes, William A. Bryant, John Booth, Adrian S. Woolf, Robert Kleta, Sandra Subtil, Rhian Clissold, Kevin Colclough, Sian Ellard, Detlef Bockenhauer
Publikováno v:
Kidney International Reports, Vol 4, Iss 9, Pp 1304-1311 (2019)
Background: Mutations in the transcription factor hepatocyte nuclear factor 1B (HNF1B) are the most common inherited cause of renal malformations, yet also associated with renal tubular dysfunction, most prominently magnesium wasting with hypomagnese
Externí odkaz:
https://doaj.org/article/5cfe0370365c46db8fd15374b4a9bbed