Zobrazeno 1 - 10
of 356
pro vyhledávání: '"Katarina Stingl"'
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
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:
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
Autor:
Friederike C. Kortuem, David A. Merle, Milda Reith, Laura Kuehlewein, Ronja Jung, Saskia Holocher, Krunoslav Stingl, Katarina Stingl, Melanie Kempf
Publikováno v:
Frontiers in Ophthalmology, Vol 4 (2024)
PurposeTo investigate age-dependent wall to lumen ratio (WLR) reference values for healthy individuals in adaptive optics imaging (AO). WLR serves as an objective, dimensionless parameter for the evaluation of structural changes in vessels caused by
Externí odkaz:
https://doaj.org/article/c7bbd03fdba145fe9f40905ecd1e8595
Publikováno v:
PLoS ONE, Vol 19, Iss 2, p e0291902 (2024)
MethodsA group of RP patients (n = 8, aged 20-60) participated in a study consisting of two 4-week-phases, both carried out by the same patient group in randomized order: In the 'training phase', participants carried out a Virtual-Reality gaze traini
Externí odkaz:
https://doaj.org/article/f9119022e7054ec695a5de089f55b405
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:
Claudia S. Priglinger, Günter Rudolph, Irene Schmid, Pascale Mazzola, Tobias B. Haack, Milda Reith, Katarina Stingl, Nicole Weisschuh
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Background Biallelic pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) gene manifest in a broad spectrum of disorders, including, but not limited to recurrent acute liver failure, skeletal dysmorphism, susceptibility to in
Externí odkaz:
https://doaj.org/article/0027c4d04f9c4c09a96c16a77bd88fa0
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
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