Zobrazeno 1 - 10
of 608
pro vyhledávání: '"Susanne, Kohl"'
Autor:
Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid subst
Externí odkaz:
https://doaj.org/article/8ed648043ce34aba9586e83dd5fbdd7c
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-5 (2024)
Externí odkaz:
https://doaj.org/article/6fa089e8e89742d48ebedecf367e5cef
Autor:
Melanie Kempf, Susanne Kohl, Krunoslav Stingl, Fadi Nasser, Katarina Stingl, Friederike C. Kortuem
Publikováno v:
Frontiers in Ophthalmology, Vol 4 (2024)
PurposeTo determine the structure of the cone photoreceptor mosaic in the macula in eyes with retinitis pigmentosa related to Usher syndrome using adaptive optics fundus (AO) imaging and to correlate these findings with those of the standard clinical
Externí odkaz:
https://doaj.org/article/ed87fabc7a694683b8ebdefc27e9eb64
Autor:
Artur V. Cideciyan, Alejandro J. Roman, Raymond L. Warner, Alexander Sumaroka, Vivian Wu, Yu Y. Jiang, Malgorzata Swider, Alexandra V. Garafalo, Iryna Viarbitskaya, Robert C. Russell, Susanne Kohl, Bernd Wissinger, Caterina Ripamonti, John L. Barbur, Michael Bach, Joseph Carroll, Jessica I. W. Morgan, Tomas S. Aleman
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10639 (2024)
L-cone opsin expression by gene therapy is a promising treatment for blue cone monochromacy (BCM) caused by congenital lack of long- and middle-wavelength-sensitive (L/M) cone function. Eight patients with BCM and confirmed pathogenic variants at the
Externí odkaz:
https://doaj.org/article/34832f17630c493e803a7a454e223355
Autor:
Pietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, Laura Kühlewein, Eleonora Roschi, Bernd Wissinger, Susanne Kohl
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102113- (2024)
Splicing defects from deep-intronic variants significantly contribute to the mutational spectrum in ABCA4-associated inherited retinal diseases, necessitating functional validation for their pathological classification. Typically, minigene assays in
Externí odkaz:
https://doaj.org/article/2432239a36154de1b9786f11e2c564fc
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
Abstract Achromatopsia is an autosomal recessive cone photoreceptor disease that is frequently caused by pathogenic variants in the CNGA3 gene. Here, we present a systematic functional analysis of 20 CNGA3 splice site variants detected in our large c
Externí odkaz:
https://doaj.org/article/6232fac37c5c424b99c3e9eaa1659b7d
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Autor:
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis
Externí odkaz:
https://doaj.org/article/ae76adbc0da54571bc1728c69c317feb
Autor:
Pietro De Angeli, Peggy Reuter, Stefan Hauser, Ludger Schöls, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 511-524 (2022)
Stargardt disease is an autosomal recessively inherited retinal disorder commonly caused by pathogenic variants in the ABCA4 gene encoding the ATP-binding cassette subfamily A member 4 (ABCA4) protein. Several deep-intronic variants in ABCA4 have bee
Externí odkaz:
https://doaj.org/article/379b0f4c69d34e55b3282af868f8405c
Autor:
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)
Summary: A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-asso
Externí odkaz:
https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce
Autor:
Jessica Schäfer, Nicole Wenck, Katharina Janik, Joshua Linnert, Katarina Stingl, Susanne Kohl, Kerstin Nagel-Wolfrum, Uwe Wolfrum
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Human Usher syndrome (USH) is the most common form of hereditary combined deaf-blindness. USH is a complex genetic disorder, and the pathomechanisms underlying the disease are far from being understood, especially in the eye and retina. The USH1C gen
Externí odkaz:
https://doaj.org/article/c34b9e213e084b9ca8c16ed06537e22a