Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Max C. Liebau"'
Autor:
Naoe Harafuji, Chaozhe Yang, Maoqing Wu, Girija Thiruvengadam, Heather Gordish-Dressman, R. Griffin Thompson, P. Darwin Bell, Avi Z. Rosenberg, Claudia Dafinger, Max C. Liebau, Zsuzsanna Bebok, Ljubica Caldovic, Lisa M. Guay-Woodford
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is a severe, hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and mortality. Typical forms of ARPKD are caused by pathogenic variants in the PKHD1
Externí odkaz:
https://doaj.org/article/30852107202d4088b3304c8e12f24d6b
Autor:
Djalila Mekahli, Max C. Liebau, Melissa A. Cadnapaphornchai, Stuart L. Goldstein, Larry A. Greenbaum, Mieczyslaw Litwin, Tomas Seeman, Franz Schaefer, Lisa M. Guay-Woodford
Publikováno v:
BMC Nephrology, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Purpose Autosomal recessive polycystic kidney disease (ARPKD) is a hereditary condition characterized by massive kidney enlargement and developmental liver defects. Potential consequences during childhood include the need for kidney replacem
Externí odkaz:
https://doaj.org/article/1bf40945d1034d07a5ca7a9914231cc8
Autor:
Lena Blümel, Nan Qin, Johannes Berlandi, Eunice Paisana, Rita Cascão, Carlos Custódia, David Pauck, Daniel Picard, Maike Langini, Kai Stühler, Frauke-Dorothee Meyer, Sarah Göbbels, Bastian Malzkorn, Max C. Liebau, João T. Barata, Astrid Jeibmann, Kornelius Kerl, Serap Erkek, Marcel Kool, Stefan M. Pfister, Pascal D. Johann, Michael C. Frühwald, Arndt Borkhardt, Guido Reifenberger, Claudia C. Faria, Ute Fischer, Martin Hasselblatt, Jasmin Bartl, Marc Remke
Publikováno v:
Cell Death and Disease, Vol 13, Iss 9, Pp 1-13 (2022)
Abstract Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant brain tumor in infants that is characterized by loss of nuclear expression of SMARCB1 or SMARCA4 proteins. Recent studies show that AT/RTs comprise three molecular subgroups, nam
Externí odkaz:
https://doaj.org/article/135ad632b2b8459392b5b46750bd8481
Publikováno v:
Kidney Medicine, Vol 5, Iss 3, Pp 100596- (2023)
Autosomal dominant polycystic kidney disease (ADPKD) is part of a spectrum of inherited diseases that also includes autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and an expanding group of recessively inhe
Externí odkaz:
https://doaj.org/article/a51b69e5577e4313966d6d84ac980f92
Autor:
Wolfgang H. Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E. Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C. Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje, Dieter Haffner
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly result from rare, autosomal recessively inherited pathogenic variants in genes encoding proteins of the cilia-centrosome complex. Consequences of indiv
Externí odkaz:
https://doaj.org/article/bfa8263fab9a4c9ab1d201733f2e6381
Autor:
Stéphanie De Rechter, Detlef Bockenhauer, Lisa M. Guay-Woodford, Isaac Liu, Andrew J. Mallett, Neveen A. Soliman, Lucimary C. Sylvestre, Franz Schaefer, Max C. Liebau, Djalila Mekahli, P. Adamczyk, N. Akinci, H. Alpay, C. Ardelean, N. Ayasreh, Z. Aydin, A. Bael, V. Baudouin, U.S. Bayrakci, A. Bensman, H. Bialkevich, A. Biebuyck, O. Boyer, O. Bjanid, A. Bryłka, S. Çalışkan, A. Cambier, A. Camelio, V. Carbone, M. Charbit, B. Chiodini, A. Chirita, N. Çiçek, R. Cerkauskiene, L. Collard, M. Conceiçao, I. Constantinescu, A. Couderc, B. Crapella, M. Cvetkovic, B. Dima, F. Diomeda, M. Docx, N. Dolan, C. Dossier, D. Drozdz, J. Drube, O. Dunand, P. Dusan, L.A. Eid, F. Emma, M. Espino Hernandez, M. Fila, M. Furlano, M. Gafencu, M.S. Ghuysen, M. Giani, M. Giordano, I. Girisgen, N. Godefroid, A. Godron-Dubrasquet, I. Gojkovic, E. Gonzalez, I. Gökçe, J.W. Groothoff, S. Guarino, A. Guffens, P. Hansen, J. Harambat, S. Haumann, G. He, L. Heidet, R. Helmy, F. Hemery, N. Hooman, B. llanas, A. Jankauskiene, P. Janssens, S. Karamaria, I. Kazyra, J. Koenig, S. Krid, P. Krug, V. Kwon, A. La Manna, V. Leroy, M. Litwin, J. Lombet, G. Longo, A.C. Lungu, A. Mallawaarachchi, A. Marin, P. Marzuillo, L. Massella, A. Mastrangelo, H. McCarthy, M. Miklaszewska, A. Moczulska, G. Montini, A. Morawiec-Knysak, D. Morin, L. Murer, I. Negru, F. Nobili, L. Obrycki, H. Otoukesh, S. Özcan, L. Pape, S. Papizh, P. Parvex, M. Pawlak-Bratkowska, L. Prikhodina, A. Prytula, C. Quinlan, A. Raes, B. Ranchin, N. Ranguelov, R. Repeckiene, C. Ronit, R. Salomon, R. Santagelo, S.K. Saygılı, S. Schaefer, M. Schreuder, T. Schurmans, T. Seeman, N. Segers, M. Sinha, E. Snauwaert, B. Spasojevic, S. Stabouli, C. Stoica, R. Stroescu, E. Szczepanik, M. Szczepańska, K. Taranta-Janusz, A. Teixeira, J. Thumfart, M. Tkaczyk, R. Torra, D. Torres, N. Tram, B. Utsch, J. Vande Walle, R. Vieux, R. Vitkevic, A. Wilhelm-Bals, E. Wühl, Z.Y. Yildirim, S. Yüksel, K. Zachwieja
Publikováno v:
Kidney International Reports, Vol 4, Iss 9, Pp 1271-1284 (2019)
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that th
Externí odkaz:
https://doaj.org/article/a1f3859f23d4489db4d7640a8d721983
Autor:
Fabian Braun, Linda Blomberg, Susanne Brodesser, Max C. Liebau, Bernhard Schermer, Thomas Benzing, Christine E. Kurschat
Publikováno v:
Cellular Physiology and Biochemistry, Vol 52, Iss 5, Pp 1139-1150 (2019)
Externí odkaz:
https://doaj.org/article/b63d799ebace4f62ba96eaf1ba98df2c
Autor:
Claudia Dafinger, Markus M. Rinschen, Lori Borgal, Carolin Ehrenberg, Sander G. Basten, Mareike Franke, Martin Höhne, Manfred Rauh, Heike Göbel, Wilhelm Bloch, F. Thomas Wunderlich, Dorien J. M. Peters, Dirk Tasche, Tripti Mishra, Sandra Habbig, Jörg Dötsch, Roman-Ulrich Müller, Jens C. Brüning, Thorsten Persigehl, Rachel H. Giles, Thomas Benzing, Bernhard Schermer, Max C. Liebau
Publikováno v:
Experimental and Molecular Medicine, Vol 50, Iss 6, Pp 1-17 (2018)
Cell cilia: Protein crucial for function identified A protein involved in building and maintaining thin protrusions from cell surfaces called cilia is implicated in “ciliopathies”, diseases in which ciliary function is disrupted. These include po
Externí odkaz:
https://doaj.org/article/8de13e7b325345b1995d5f539ec1dcfd
Autor:
Frieder Fuchs, Derya Markert, Isabel V. Wagner, Max C. Liebau, Anja Berger, Alexandra Dangel, Andreas Sing, Mario Fabri, Georg Plum
Publikováno v:
Emerging Infectious Diseases, Vol 26, Iss 9, Pp 2180-2181 (2020)
In October 2016, an adolescent boy sought care for acute genital ulceration in Cologne, Germany. We presumed a sexually transmitted infection, but initial diagnostic procedures yielded negative results. He was hospitalized because swab samples from t
Externí odkaz:
https://doaj.org/article/b846ae84f87f421b88f89bc388041a86
Autor:
Miriam Schmidts, Max C. Liebau
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
Externí odkaz:
https://doaj.org/article/54c80a02227045f8952bce4b3e3c12f6