Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Guglielmo, Schiano"'
Autor:
Guglielmo Schiano, Jennifer Lake, Marta Mariniello, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 12, Pp n/a-n/a (2023)
Abstract Missense mutations in the uromodulin (UMOD) gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney diseases. The unknown impact of the allelic and gene dosage effects and fate of muta
Externí odkaz:
https://doaj.org/article/b1e346c60e1743ae8a8ec771aabc646a
Autor:
Yong Li, Yurong Cheng, Francesco Consolato, Guglielmo Schiano, Michael R. Chong, Maik Pietzner, Ngoc Quynh H. Nguyen, Nora Scherer, Mary L. Biggs, Marcus E. Kleber, Stefan Haug, Burulça Göçmen, Marie Pigeyre, Peggy Sekula, Inga Steinbrenner, Pascal Schlosser, Christina B. Joseph, Jennifer A. Brody, Morgan E. Grams, Caroline Hayward, Ulla T. Schultheiss, Bernhard K. Krämer, Florian Kronenberg, Annette Peters, Jochen Seissler, Dominik Steubl, Cornelia Then, Matthias Wuttke, Winfried März, Kai-Uwe Eckardt, Christian Gieger, Eric Boerwinkle, Bruce M. Psaty, Josef Coresh, Peter J. Oefner, Guillaume Pare, Claudia Langenberg, Jürgen E. Scherberich, Bing Yu, Shreeram Akilesh, Olivier Devuyst, Luca Rampoldi, Anna Köttgen
Publikováno v:
JCI Insight, Vol 7, Iss 10 (2022)
Uromodulin (UMOD) is a major risk gene for monogenic and complex forms of kidney disease. The encoded kidney-specific protein uromodulin is highly abundant in urine and related to chronic kidney disease, hypertension, and pathogen defense. To gain in
Externí odkaz:
https://doaj.org/article/214e08c2c25c48b684ea1de9af2965d4
Autor:
Anna Iervolino, Luigi R. De La Motte, Federica Petrillo, Federica Prosperi, Francesca Maria Alvino, Guglielmo Schiano, Alessandra F. Perna, Danilo Di Matteo, Mario De Felice, Giovambattista Capasso, Francesco Trepiccione
Publikováno v:
Frontiers in Physiology, Vol 9 (2018)
Externí odkaz:
https://doaj.org/article/76677dc628fe47c4a0aded5441f4cfdf
Autor:
Guillaume E. Courtoy, Isabelle Leclercq, Antoine Froidure, Guglielmo Schiano, Johann Morelle, Olivier Devuyst, François Huaux, Caroline Bouzin
Publikováno v:
Biomolecules, Vol 10, Iss 11, p 1585 (2020)
Current understanding of fibrosis remains incomplete despite the increasing burden of related diseases. Preclinical models are used to dissect the pathogenesis and dynamics of fibrosis, and to evaluate anti-fibrotic therapies. These studies require o
Externí odkaz:
https://doaj.org/article/f39cab9ca6ef437fbf3d22ce754fb4e2
Autor:
Anna Iervolino, Luigi R. De La Motte, Federica Petrillo, Federica Prosperi, Francesca Maria Alvino, Guglielmo Schiano, Alessandra F. Perna, Danilo Di Matteo, Mario De Felice, Giovambattista Capasso, Francesco Trepiccione
Publikováno v:
Frontiers in Physiology, Vol 9 (2018)
Integrins are heterodimers anchoring cells to the surrounding extracellular matrix (ECM), an active and complex process mediating a series of inside-out and outside-in stimuli regulating cellular turn-over, tissue growth and architecture. Itgb1 is th
Externí odkaz:
https://doaj.org/article/0bac6e2a816d4e3aa6b597d3e58a8c83
Autor:
Guglielmo Schiano, Jennifer Lake, Marta Mariniello, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst
Missense mutations in theUMODgene encoding uromodulin cause autosomal dominant tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney diseases. A pressing need for ADTKD is to bridge the gap between postulated gain-of-func
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a392e06c09cb4945fe56d7b43e5abb54
https://doi.org/10.1101/2022.09.13.507770
https://doi.org/10.1101/2022.09.13.507770
Autor:
Eric, Olinger, Céline, Schaeffer, Kendrah, Kidd, Elhussein A E, Elhassan, Yurong, Cheng, Inès, Dufour, Guglielmo, Schiano, Holly, Mabillard, Elena, Pasqualetto, Patrick, Hofmann, Daniel G, Fuster, Andreas D, Kistler, Ian J, Wilson, Stanislav, Kmoch, Laure, Raymond, Thomas, Robert, Kai-Uwe, Eckardt, Anthony J, Bleyer, Anna, Köttgen, Peter J, Conlon, Michael, Wiesener, John A, Sayer, Luca, Rampoldi, Olivier, Devuyst
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(33)
The kidney-specific gene
Autor:
Yong LI, Yurong Cheng, Francesco Consolato, Guglielmo Schiano, Michael Chong, Maik Pietzner, Ngoc Quynh Nguyen, Nora Scherer, Mary Biggs, Marcus E Kleber, Stefan Haug, Burulça Göçmen, Marie Pigeyre, Peggy Sekula, Inga Steinbrenner, Pascal Schlosser, Christina Joseph, Jennifer Brody, Morgan Grams, Caroline Hayward, Ulla T Schultheiß, Bernhard Kraemer, Florian Kronenberg, Annette Peters, Jochen Seissler, Dominik Steubl, Cornelia Then, Matthias Wuttke, Winfried Maerz, Kai-Uwe Eckardt, Christian Gieger, Eric Boerwinkle, Bruce Psaty, Josef Coresh, Peter Oefner, Guillaume Pare, Claudia Langenberg, Juergen E Scherberich, Bing Yu, Shreeram Akilesh, Olivier Devuyst, Luca Rampoldi, Anna Köttgen
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND AND AIMS UMOD is a major risk gene for monogenic and complex forms of kidney disease. The encoded kidney-specific protein uromodulin is the most abundant protein in urine and related to chronic kidney disease, hypertension and pathogen def
Autor:
Christina B. Joseph, Marta Mariniello, Ayumi Yoshifuji, Guglielmo Schiano, Jennifer Lake, Jonathan Marten, Anne Richmond, Jennifer E. Huffman, Archie Campbell, Sarah E. Harris, Stephan Troyanov, Massimiliano Cocca, Antonietta Robino, Sébastien Thériault, Kai-Uwe Eckardt, Matthias Wuttke, Yurong Cheng, Tanguy Corre, Ivana Kolcic, Corrinda Black, Vanessa Bruat, Maria Pina Concas, Cinzia Sala, Stefanie Aeschbacher, Franz Schaefer, Sven Bergmann, Harry Campbell, Matthias Olden, Ozren Polasek, David J. Porteous, Ian J. Deary, Francois Madore, Philip Awadalla, Giorgia Girotto, Sheila Ulivi, David Conen, Elke Wuehl, Eric Olinger, James F. Wilson, Murielle Bochud, Anna Köttgen, Caroline Hayward, Olivier Devuyst
Publikováno v:
The Journal of the American Society of Nephrology
J Am Soc Nephrol
Joseph, C, Mariniello, M, Ayumi Yoshifuji, A, Schiano, G, Lake, J, Marten, J, Richmond, A, Huffman, J E, Campbell, A, Harris, S, Troyanov, S, Cocca, M, Robino, A, Theriault, S, Eckardt, K-U, Wuttke, M, Cheng, Y, Corre, T, Kolcic, I, Black, C, Bruat, V, Pina Concas, M, Sala, C, Aeschbacher, S, Schaefer, F, Bergmann, S, Campbell, H, Olden, M, Polasek, O, Porteous, D J, Deary, I J, Madore, F, Awadalla, P, Girotto, G, Ulivi, S, Conen, D, Wuehl, E, Olinger, E, Wilson, J F, Bochud, M, Köttgen, A, Hayward, C & Devuyst, O 2022, ' Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin ', Journal of the American Society of Nephrology, vol. 33, no. 3, pp. 511-529 . https://doi.org/10.1681/ASN.2021040491
J Am Soc Nephrol
Joseph, C, Mariniello, M, Ayumi Yoshifuji, A, Schiano, G, Lake, J, Marten, J, Richmond, A, Huffman, J E, Campbell, A, Harris, S, Troyanov, S, Cocca, M, Robino, A, Theriault, S, Eckardt, K-U, Wuttke, M, Cheng, Y, Corre, T, Kolcic, I, Black, C, Bruat, V, Pina Concas, M, Sala, C, Aeschbacher, S, Schaefer, F, Bergmann, S, Campbell, H, Olden, M, Polasek, O, Porteous, D J, Deary, I J, Madore, F, Awadalla, P, Girotto, G, Ulivi, S, Conen, D, Wuehl, E, Olinger, E, Wilson, J F, Bochud, M, Köttgen, A, Hayward, C & Devuyst, O 2022, ' Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin ', Journal of the American Society of Nephrology, vol. 33, no. 3, pp. 511-529 . https://doi.org/10.1681/ASN.2021040491
BACKGROUND: Uromodulin, the most abundant protein excreted in normal urine, plays major roles in kidney physiology and disease. The mechanisms regulating the urinary excretion of uromodulin remain essentially unknown.METHODS: We conducted a meta-anal
Autor:
Inès Dufour, Céline Schaeffer, Peter J. Conlon, Kai-Uwe Eckardt, Yurong Cheng, John A. Sayer, Patrick Hofmann, Ian J. Wilson, Olivier Devuyst, Michael Wiesener, Holly Mabillard, Guglielmo Schiano, Andreas D. Kistler, Anthony J. Bleyer, Elhussein A. E. Elhassan, Luca Rampoldi, Eric Olinger, Stanislav Kmoch, Anna Köttgen, Daniel Guido Fuster, Kendrah Kidd, Elena Pasqualetto
The kidney-specific gene UMOD encodes for uromodulin, the most abundant protein excreted in normal urine. Rare, large-effect variants in UMOD cause autosomal dominant tubulointerstitial kidney disease (ADTKD) while common, low-effect variants strongl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5daa9197593b675a8e27ea05f9436994
https://doi.org/10.1101/2021.09.27.21263789
https://doi.org/10.1101/2021.09.27.21263789