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Your search keyword '"Rupp, Stefan"' showing total 16 results
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16 results on '"Rupp, Stefan"'

2. SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration—Myositis Complex (CDMC)

Author

Christen, Matthias, Rupp, Stefan, Van Soens, Iris, Bhatti, Sofie FM, Matiasek, Kaspar, von Klopmann, Thilo, Jagannathan, Vidhya, Madden, Indiana, Batcher, Kevin, Bannasch, Danika, and Leeb, Tosso

Subjects
Biological Sciences, Genetics, Rare Diseases, Animals, Dog Diseases, Dogs, Genetic Testing, Genotype, Humans, Mice, Mitochondrial Membrane Transport Proteins, Myositis, Nova Scotia, Canis lupus familiaris, neurology, seizure, N-acetyl aspartic acid, aralar, precision medicine, animal model
Abstract

We investigated two litters of distantly related Nova Scotia Duck Tolling Retrievers (NSDTR), of which four puppies were affected by cerebellar signs with or without neuromuscular weakness. The phenotype was termed cerebellar degeneration—myositis complex (CDMC). We suspected a heritable condition and initiated a genetic analysis. The genome of one affected dog was sequenced and compared to 565 control genomes. This search yielded a private protein-changing SLC25A12 variant in the affected dog, XM_038584842.1:c.1337C>T, predicted to result in the amino acid change XP_038440770.1:(p.Pro446Leu). The genotypes at the variant co-segregated with the phenotype as expected for a monogenic autosomal recessive mode of inheritance in both litters. Genotyping of 533 additional NSDTR revealed variant allele frequencies of 3.6% and 1.3% in a European and a North American cohort, respectively. The available clinical and biochemical data, together with current knowledge about SLC25A12 variants and their functional impact in humans, mice, and dogs, suggest the p.Pro446Leu variant is a candidate causative defect for the observed phenotype in the affected dogs.

Published
2022

7. Relationship between magnetic resonance imaging findings and histological grade in spinal peripheral nerve sheath tumors in dogs

Author

Morabito, Simona, primary, Specchi, Swan, additional, Di Donato, Pamela, additional, Pollard, Danica, additional, Dennis, Ruth, additional, De Risio, Luisa, additional, Bacon, Nicholas J., additional, Potamopoulou, Maria, additional, Rupp, Stefan, additional, Corlazzoli, Daniele, additional, Ribeiro, João, additional, Cozzi, Francesca, additional, Jurina, Konrad, additional, Cappello, Rodolfo, additional, Mercuriali, Edy, additional, Beckmann, Katrin, additional, Flegel, Thomas, additional, Menchetti, Marika, additional, König, Florian, additional, Matiasek, Kaspar, additional, and Rosati, Marco, additional

Published
2023
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8. Hamartosis of the thoracolumbar vertebral column in a 3‐month‐old Rhodesian Ridgeback.

Author

Hauer, Julia, Günther, Charlotte, Matiasek, Kaspar, Rupp, Stefan, and von Klopmann, Thilo

Subjects
SPINE, MAGNETIC resonance imaging, MOTOR neurons, SYMPTOMS, ANIMAL young
Abstract

This case report describes the clinical presentation, imaging diagnosis and histopathological findings of multiple osseous hamartomas in the thoracolumbar vertebral column of a 3‐month‐old Rhodesian Ridgeback puppy. The dog was presented due to progressive non‐painful, non‐ambulatory upper motor neuron paraparesis. Magnetic resonance imaging revealed diffuse T2‐weighted hyperintensities in the vertebral bodies of Th12, L4, S2 and the vertebral arch of Th13, and showed irregular and hyperostotic outer borders of the cortex. The diagnosis of multiple hamartomas was confirmed by histopathology showing bone cavities containing myxoid mesenchymal material, tortuous blood vessels and lipid and cartilaginous emboli in the bone marrow. This case emphasises the importance of keeping a hamartoma in mind as cause for neurological signs, especially in young animals. [ABSTRACT FROM AUTHOR]

Published
2023
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10. Serum anti‐GM2 and anti‐GalNAc‐GD1a ganglioside IgG antibodies are biomarkers for immune‐mediated polyneuropathies in cats

Author

Halstead, Susan K., primary, Jackson, Mark, additional, Bianchi, Ezio, additional, Rupp, Stefan, additional, Granger, Nicolas, additional, Menchetti, Marika, additional, Galli, Greta, additional, Freeman, Paul, additional, Kaczmarska, Adriana, additional, Bhatti, Sofie F. M., additional, Brocal, Josep, additional, José‐López, Roberto, additional, Tipold, Andrea, additional, Gutierrez Quintana, Rodrigo, additional, Ives, Edward J., additional, Liatis, Theofanis, additional, Nessler, Jasmin, additional, Rusbridge, Clare, additional, Willison, Hugh J., additional, and Rupp, Angie, additional

Published
2023
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14. Quantification of meteorological conditions for rockfall triggers in Germany

Author

Nissen, Katrin M., Rupp, Stefan, Kreuzer, Thomas M., Guse, Björn, Damm, Bodo, and Ulbrich, Uwe

Subjects
Quantification meteorological conditions, Germany, 500 Naturwissenschaften und Mathematik::550 Geowissenschaften, Geologie::551 Geologie, Hydrologie, Meteorologie, rockfall trigger
Abstract

A rockfall dataset for Germany is analysed with the objective of identifying the meteorological and hydrological (pre-)conditions that change the probability for such events in central Europe. The factors investigated in the analysis are precipitation amount and intensity, freeze–thaw cycles, and subsurface moisture. As there is no suitable observational dataset for all relevant subsurface moisture types (e.g. water in rock pores and cleft water) available, simulated soil moisture and a proxy for pore water are tested as substitutes. The potential triggering factors were analysed both for the day of the event and for the days leading up to it. A logistic regression model was built, which considers individual potential triggering factors and their interactions. It is found that the most important factor influencing rockfall probability in the research area is the precipitation amount at the day of the event, but the water content of the ground on that day and freeze–thaw cycles in the days prior to the event also influence the hazard probability. Comparing simulated soil moisture and the pore-water proxy as predictors for rockfall reveals that the proxy, calculated as accumulated precipitation minus potential evaporation, performs slightly better in the statistical model. Using the statistical model, the effects of meteorological conditions on rockfall probability in German low mountain ranges can be quantified. The model suggests that precipitation is most efficient when the pore-water content of the ground is high. An increase in daily precipitation from its local 50th percentile to its 90th percentile approximately doubles the probability for a rockfall event under median pore-water conditions. When the pore-water proxy is at its 95th percentile, the same increase in precipitation leads to a 4-fold increase in rockfall probability. The occurrence of a freeze–thaw cycle in the preceding days increases the rockfall hazard by about 50 %. The most critical combination can therefore be expected in winter and at the beginning of spring after a freeze–thaw transition, which is followed by a day with high precipitation amounts and takes place in a region preconditioned by a high level of subsurface moisture.

Published
2022

15. Cardiomyocyte Hyperplasia and Immaturity but not Hypertrophy are Characteristic Features of Patients with Rasopathies

Author

Drenckhahn, Jörg-Detlef, primary, Nicin, Luka, additional, Akhouaji, Sara, additional, Krück, Svenja, additional, Blank, Anna Eva, additional, Schänzer, Anne, additional, Yörüker, Uygar, additional, Jux, Christian, additional, Abplanalp, Wesley, additional, John, David, additional, Zeiher, Andreas, additional, Dimmeler, Stefanie, additional, and Rupp, Stefan, additional

Published
2022
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