Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Klaus Rüther"'
Autor:
Wanda Jankowiak, Katharina Kruszewski, Kai Flachsbarth, Christos Skevas, Gisbert Richard, Klaus Rüther, Thomas Braulke, Udo Bartsch
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0127204 (2015)
A sustained intraocular administration of neurotrophic factors is among the strategies aimed at establishing treatments for currently untreatable degenerative retinal disorders. In the present study we have analyzed the neuroprotective effects of a c
Externí odkaz:
https://doaj.org/article/a9ce46d6a9c346558cec25cbaa2e3319
Autor:
Bastian Linder, Anja Hirmer, Andreas Gal, Klaus Rüther, Hanno Jörn Bolz, Christoph Winkler, Bernhard Laggerbauer, Utz Fischer
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e111754 (2014)
Pre-mRNA splicing by the spliceosome is an essential step in the maturation of nearly all human mRNAs. Mutations in six spliceosomal proteins, PRPF3, PRPF4, PRPF6, PRPF8, PRPF31 and SNRNP200, cause retinitis pigmentosa (RP), a disease characterized b
Externí odkaz:
https://doaj.org/article/6140c1431828454bb6ad7def5e7a7b1c
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e12111 (2010)
BACKGROUND:ZK 200775 is an antagonist at the alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor and had earned attention as a possible neuroprotective agent in cerebral ischemia. Probands receiving the agent within phase I trials re
Externí odkaz:
https://doaj.org/article/4ff5af282e814f058e9b0fbb18447bc8
Autor:
Sinja Kieninger, Ting Xiao, Nicole Weisschuh, Susanne Kohl, Klaus Rüther, Peter Michael Kroisel, Tobias Brockmann, Steffi Knappe, Ulrich Kellner, Wolf Lagrèze, Pascale Mazzola, Tobias B Haack, Bernd Wissinger, Felix Tonagel
Publikováno v:
Journal of Medical Genetics. 59:1027-1034
BackgroundLeber’s hereditary optic neuropathy (LHON) has been considered a prototypical mitochondriopathy and a textbook example for maternal inheritance linked to certain disease-causing variants in the mitochondrial genome. Recently, an autosomal
Autor:
Bernd, Wissinger, Britta, Baumann, Elena, Buena-Atienza, Zeinab, Ravesh, Artur V, Cideciyan, Katarina, Stingl, Isabelle, Audo, Isabelle, Meunier, Beatrice, Bocquet, Elias I, Traboulsi, Alison J, Hardcastle, Jessica C, Gardner, Michel, Michaelides, Kari E, Branham, Thomas, Rosenberg, Sten, Andreasson, Hélène, Dollfus, David, Birch, Andrea L, Vincent, Loreto, Martorell, Jaume, Català Mora, Ulrich, Kellner, Klaus, Rüther, Birgit, Lorenz, Markus N, Preising, Emanuela, Manfredini, Yuri A, Zarate, Raymon, Vijzelaar, Eberhart, Zrenner, Samuel G, Jacobson, Susanne, Kohl
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(27)
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function an
Autor:
Ymkje M. Hettinga, Karsten Hufendiek, Jacek P. Szaflik, Ian M. MacDonald, Isabelle Meunier, Marcela D. Mena, Kaoru Fujinami, Mubeen Khan, Eyal Banin, Elfride De Baere, G. Jane Farrar, Adrian Dockery, Rianne Miller, Tamar Ben-Yosef, Manar Salameh, L. Ingeborgh van den Born, Anna M Tracewska, Sandro Banfi, Caroline C W Klaver, John N. De Roach, Carmen Ayuso, Sabine Defoort, Damjan Glavač, Ulrich Kellner, Juliana Maria Ferraz Sallum, Claire-Marie Dhaenens, Stéphanie S. Cornelis, Bernhard H. F. Weber, Klaus Rüther, Jennifer A. Thompson, Bernard Puech, Raj Ramesar, Aurore Devos, Lisa Roberts, Herbert Jägle, Osvaldo L. Podhajcer, Hadas Newman, Bohdan Kousal, Femke Bults, Marta Del Pozo-Valero, Marc Pieterse, Laura Whelan, Xavier Zanlonghi, Alaa AlTalbishi, Francesca Simonelli, Marloes Steehouwer, Caroline Thuillier, Frans P.M. Cremers, Andrea L Vincent, Smaragda Kamakari, Ana Fakin, Anna Matynia, Dror Sharon, Ketan Mishra, Mariana Vallim Salles, Heidi Stöhr, Miriam Bauwens, Petra Liskova, Esmee H. Runhart, Buhle Ntozini, Georg Spital, Carel B. Hoyng, Takaaki Hayashi, Terri L. McLaren, Martine van Zweeden, Lubica Dudakova, Camiel J. F. Boon, Christian Gilissen, Jacquie Greenberg, Monika Ołdak, Tina M. Lamey, Yahya AlSwaiti, Alexander Hoischen, Marianthi Karali, Michael B. Gorin
Publikováno v:
Genetics in Medicine
Genetics in medicine, 22(7), 1235-1246. Lippincott Williams and Wilkins
Genetics in Medicine, 22, 7, pp. 1235-1246
GENETICS IN MEDICINE
Genetics in Medicine, 22(7), 1235-1246. Lippincott Williams & Wilkins
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Genetics in Medicine, 22(7), 1235-1246. NATURE PUBLISHING GROUP
Genetics in Medicine, 22, 1235-1246
Genetics in medicine, 22(7), 1235-1246. Lippincott Williams and Wilkins
Genetics in Medicine, 22, 7, pp. 1235-1246
GENETICS IN MEDICINE
Genetics in Medicine, 22(7), 1235-1246. Lippincott Williams & Wilkins
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Genetics in Medicine, 22(7), 1235-1246. NATURE PUBLISHING GROUP
Genetics in Medicine, 22, 1235-1246
Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-
Autor:
Klaus Rüther
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 235:747-763
Hereditary optic nerve disorders are rare. For ophthalmologists, Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are of particular relevance. LHON and ADOA are diseases of the retinal ganglion cells and are caus
Autor:
Arif O. Khan, Susanne Markus, Raoul Heller, Solaf M. Elsayed, Ute Steinhauer, Heike M. Korbmacher, Kerstin Nagel-Wolfrum, Markus Pfister, Diana Mitter, Christian Decker, Birgit Lorenz, Markus N. Preising, Ingo Kennerknecht, Shahid Mahmood Baig, Heidi Stöhr, Cornelie Müller-Hofstede, Klaus Rohrschneider, Fabian Moeller, Peter Charbel Issa, Tobias Eisenberger, Christine Neuhaus, Hanno J. Bolz, Klaus Rüther, Sandra Nagl, Bodo B. Beck, Cornelia Blank, Dagmar Huhle, Hesham Taha
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Methods Sanger s
Autor:
Philipp Rating, Heidi L. Schulz, Heidi Stöhr, Georg Spital, Felix Grassmann, Ulrich Kellner, Herbert Jägle, Bernhard H. F. Weber, Klaus Rüther, Karsten Hufendiek, Cord Huchzermeyer, Maria J. Baier
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. To establish the mutational spectrum and to assess effects of selected deep intronic an
Autor:
Carel B. Hoyng, Yahya AlSwaiti, Lubica Dudakova, Alexander Hoischen, Lisa Roberts, Christian Gilissen, Michael B. Gorin, Marc Pieterse, Isabelle Meunier, Damjan Glavač, Jacek P. Szaflik, Andrea L Vincent, Dror Sharon, Xavier Zanlonghi, Martine van Zweeden, Monika Ołdak, Bernard Puech, Camiel J. F. Boon, Femke Bults, Anna M. Tracewska, Marloes Steehouwer, Caroline C W Klaver, Jacquie Greenberg, Hadas Newman, Bohdan Kousal, Miriam Bauwens, Bernard H.F. Weber, Smaragda Kamakari, G. Jane Farrar, Eyal Banin, Elfride De Baere, Jennifer A. Thompson, Adrian Dockery, Marcela D. Mena, Tamar Ben-Yosef, Manar Salameh, Laura Whelan, Tina M. Lamey, L. Ingeborgh van den Born, Ana Fakin, Frans P.M. Cremers, Klaus Rüther, Buhle Ntozini, Sandro Banfi, Claire-Marie Dhaenens, Raj Ramesar, Georg Spital, Osvaldo L. Podhajcer, Heidi Stöhr, Ulrich Kellner, Esmee H. Runhart, Herbert Jägle, John N. De Roach, Kaoru Fujinami, Marta Del Pozo-Valero, Takaaki Hayashi, Juliana Maria Ferraz Sallum, Petra Liskova, Terri L. McLaren, Karsten Hufendiek, Marianthi Karali, Stéphanie S. Cornelis, Sabine Defoort, Ymkje M. Hettinga, Francesca Simonelli, Alaa AlTabishi, Mubeen Khan, Caroline Thuillier, Anna Matynia, Carmen Ayuso, Ketan Mishra, Mariana Vallim Salles, Ian M. MacDonald, Aurore Devos, Rianne Miller
Missing heritability in human diseases represents a major challenge. Although whole-genome sequencing enables the analysis of coding and non-coding sequences, substantial costs and data storage requirements hamper its large-scale use to (re)sequence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e07f399c9d8c1ee433e6af3c48b541