Zobrazeno 1 - 10
of 446
pro vyhledávání: '"A S, Woolf"'
Autor:
Xiaoguang Xu, Chachrit Khunsriraksakul, James M. Eales, Sebastien Rubin, David Scannali, Sushant Saluja, David Talavera, Havell Markus, Lida Wang, Maciej Drzal, Akhlaq Maan, Abigail C. Lay, Priscilla R. Prestes, Jeniece Regan, Avantika R. Diwadkar, Matthew Denniff, Grzegorz Rempega, Jakub Ryszawy, Robert Król, John P. Dormer, Monika Szulinska, Marta Walczak, Andrzej Antczak, Pamela R. Matías-García, Melanie Waldenberger, Adrian S. Woolf, Bernard Keavney, Ewa Zukowska-Szczechowska, Wojciech Wystrychowski, Joanna Zywiec, Pawel Bogdanski, A. H. Jan Danser, Nilesh J. Samani, Tomasz J. Guzik, Andrew P. Morris, Dajiang J. Liu, Fadi J. Charchar, Human Kidney Tissue Resource Study Group, Maciej Tomaszewski
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-29 (2024)
Abstract Genetic mechanisms of blood pressure (BP) regulation remain poorly defined. Using kidney-specific epigenomic annotations and 3D genome information we generated and validated gene expression prediction models for the purpose of transcriptome-
Externí odkaz:
https://doaj.org/article/f5e9da19c88d4024b4071ce5130ced06
Autor:
Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising c
Externí odkaz:
https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8
Autor:
Filipa M Lopes, Celine Grenier, Benjamin W Jarvis, Sara Al Mahdy, Adrian Lène-McKay, Alison M Gurney, William G Newman, Simon N Waddington, Adrian S Woolf, Neil A Roberts
Publikováno v:
eLife, Vol 13 (2024)
Rare early-onset lower urinary tract disorders include defects of functional maturation of the bladder. Current treatments do not target the primary pathobiology of these diseases. Some have a monogenic basis, such as urofacial, or Ochoa, syndrome (U
Externí odkaz:
https://doaj.org/article/c7e0ce9ab0724cbca7d1f7f2cbe62eae
Autor:
Mitra Kabir, Helen M. Stuart, Filipa M. Lopes, Elisavet Fotiou, Bernard Keavney, Andrew J. Doig, Adrian S. Woolf, Kathryn E. Hentges
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
Abstract Congenital renal tract malformations (RTMs) are the major cause of severe kidney failure in children. Studies to date have identified defined genetic causes for only a minority of human RTMs. While some RTMs may be caused by poorly defined e
Externí odkaz:
https://doaj.org/article/f53fdbd76f954105b41d5e7e7e993256
Autor:
Caroline M. Kolvenbach, Gabriel C. Dworschak, Johanna M. Rieke, Adrian S. Woolf, Heiko Reutter, Benjamin Odermatt, Alina C. Hilger
Publikováno v:
Molecular and Cellular Pediatrics, Vol 10, Iss 1, Pp 1-7 (2023)
Abstract Advances in molecular biology are improving our understanding of the genetic causes underlying human congenital lower urinary tract (i.e., bladder and urethral) malformations. This has recently led to the identification of the first disease-
Externí odkaz:
https://doaj.org/article/dc620dcacdf24d3b958ada1a32327869
Autor:
Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A. L. M. van Rooij, Wouter F. J. Feitz, Carlo L. M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M. Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-11 (2022)
A genome-wide association study on classic bladder exstrophy reveals eight genome-wide significant loci, most of which contained genes expressed in embryonic developmental bladder stages.
Externí odkaz:
https://doaj.org/article/3185cad232344b7081367260f4859843
Autor:
Rinal Sahputra, Krittee Dejyong, Adrian S. Woolf, Matthias Mack, Judith E. Allen, Dominik Rückerl, Sarah E. Herrick
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Peritoneal adhesions commonly occur after abdominal or pelvic surgery. These scars join internal organs to each other or to the cavity wall and can present with abdominal or pelvic pain, and bowel obstruction or female infertility. The mechanisms und
Externí odkaz:
https://doaj.org/article/bc80303b143c41da88de0f1afce64f26
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:
Emad A. Hindi, Craig J. Williams, Leo A. H. Zeef, Filipa M. Lopes, Katie Newman, Martha M. M. Davey, Nigel W. Hodson, Emma N. Hilton, Jennifer L. Huang, Karen L. Price, Neil A. Roberts, David A. Long, Adrian S. Woolf, Natalie J. Gardiner
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)
Abstract Diabetes mellitus (DM) is the leading cause of chronic kidney disease and diabetic nephropathy is widely studied. In contrast, the pathobiology of diabetic urinary bladder disease is less understood despite dysfunctional voiding being common
Externí odkaz:
https://doaj.org/article/3d05190d673047aca307800a35df1323
Autor:
Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in HPSE2, coding for the secreted protein heparanase-2, are
Externí odkaz:
https://doaj.org/article/576f63e2c30d40a9aa5dc30cab4f03f1