Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Hanno J Bolz"'
Autor:
Johannes Birtel, Martin Gliem, Elisabeth Mangold, Philipp L Müller, Frank G Holz, Christine Neuhaus, Steffen Lenzner, Diana Zahnleiter, Christian Betz, Tobias Eisenberger, Hanno J Bolz, Peter Charbel Issa
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0207958 (2018)
Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next-generation sequencing (NGS) has become an efficient tool to encounter the
Externí odkaz:
https://doaj.org/article/59d03f6dbc674dc59bc1333e3bf03700
Autor:
Louise A Stephen, Hasan Tawamie, Gemma M Davis, Lars Tebbe, Peter Nürnberg, Gudrun Nürnberg, Holger Thiele, Michaela Thoenes, Eugen Boltshauser, Steffen Uebe, Oliver Rompel, André Reis, Arif B Ekici, Lynn McTeir, Amy M Fraser, Emma A Hall, Pleasantine Mill, Nicolas Daudet, Courtney Cross, Uwe Wolfrum, Rami Abou Jamra, Megan G Davey, Hanno J Bolz
Publikováno v:
eLife, Vol 4 (2015)
Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we iden
Externí odkaz:
https://doaj.org/article/130e0f92665342b789f080b99454ab95
Autor:
Tobias Eisenberger, Christian Decker, Milan Hiersche, Ruben C Hamann, Eva Decker, Steffen Neuber, Valeska Frank, Hanno J Bolz, Henry Fehrenbach, Lars Pape, Burkhard Toenshoff, Christoph Mache, Kay Latta, Carsten Bergmann
Publikováno v:
PLoS ONE, Vol 10, Iss 2, p e0116680 (2015)
Renal cysts are clinically and genetically heterogeneous conditions. Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent life-threatening genetic disease and mainly caused by mutations in PKD1. The presence of six PKD1 pseudogen
Externí odkaz:
https://doaj.org/article/97c09af2ffe2451c9d7d5da442f09234
Autor:
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e78496 (2013)
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has pro
Externí odkaz:
https://doaj.org/article/86539f2aec6b41a1829b76c3c6c0becd
Autor:
Hanh M. Truong, Kevin O. Cruz-Colón, Jorge Y. Martínez-Márquez, Jason R. Willer, Amanda M. Travis, Sondip K. Biswas, Woo-Kuen Lo, Hanno J. Bolz, Jillian N. Pearring
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-14 (2023)
Abstract The primary cilium is a signaling organelle with a unique membrane composition maintained by a diffusional barrier residing at the transition zone. Many transition zone proteins, such as the tectonic complex, are linked to preserving ciliary
Externí odkaz:
https://doaj.org/article/f74dc351288b4d82913bdf5257f95402
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Autor:
Ghada M. H. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit S. Budde, Mohammad Reza Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel-Hamid, Ibrahim Hegazy, Ahmed G. Mohamed, Dominik T. Schneider, Aida Bertoli-Avella, Peter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa A. Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz
Publikováno v:
JCI Insight, Vol 8, Iss 22 (2023)
MAD2L1BP-encoded p31comet mediates Trip13-dependent disassembly of Mad2- and Rev7-containing complexes and, through this antagonism, promotes timely spindle assembly checkpoint (SAC) silencing, faithful chromosome segregation, insulin signaling, and
Externí odkaz:
https://doaj.org/article/c2f7dbb684e54ea28e6d06a849f00507
Autor:
Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Käseberg, Melanie Jäger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, Nuria Gruartmoner, Mattias Van Heetvelde, Joachim Wolf, Robert Merget, Sabine Grasshoff-Derr, Jo Van Dorpe, Anne Hoorens, Heidi Stöhr, Luke Mansard, Anne-Françoise Roux, Thomas Langmann, Katharina Dannhausen, David Rosenkranz, Karl M. Wissing, Michel Van Lint, Heidi Rossmann, Friederike Häuser, Peter Nürnberg, Holger Thiele, Ulrich Zechner, Jillian N. Pearring, Elfride De Baere, Hanno J. Bolz
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 8 (2023)
Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for a truncating variant in CEP162, a centrosome and microtub
Externí odkaz:
https://doaj.org/article/5751fc3eb5124e36990ef17731c43da6
Autor:
Ghada M. H. Abdel-Salam, Hanan H. Afifi, Mohamed S. Abdel-Hamid, Nermeen E. B. Ahmed, Mohamed B. Taher, Ghada El-Kamah, Holger Thiele, Peter N. Nürnberg, Hanno J. Bolz
Publikováno v:
Journal of Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b778ab070cb00fbf0376671d8351815
https://doi.org/10.1038/s10038-023-01152-2
https://doi.org/10.1038/s10038-023-01152-2
Autor:
Sümeyye, Elgaz, Boris, Wittekindt, Anoosh, Esmaeili, Sebastian, Fischer, Hanno J, Bolz, Ulrich, Zechner, Horst, Buxmann
Publikováno v:
Cold Spring Harbor molecular case studies. 8(6)
Neonatal Marfan syndrome (nMFS) is a rare and severe form of Marfan syndrome (MFS) with a poor prognosis, that presents with a highly variable phenotype, particularly regarding skeletal, ocular, and cardiovascular manifestations. Mutations in the fib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::03d6b3691b68393c61b28c66f0b4b249
https://pubmed.ncbi.nlm.nih.gov/36307213
https://pubmed.ncbi.nlm.nih.gov/36307213