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2. Entwicklung diagnosespezifischer Gruppen in der Pro Retina

Author

von Gizycki, R., Brunsmann, F., Rybalko, A., Hildebrandt, A.G., and Rüther, K.

Abstract

Zusammenfassung: Im folgenden Beitrag werden die Entstehung, Entwicklung und Außenwirkung folgender 8 diagnosespezifischer Patientengruppen seltener Netzhautdegenerationen (SND) in der Patientenorganisation PRO RETINA Deutschland e.V. beschrieben: Atrophia gyrata, Bardet-Biedl-Syndrom (BBS), Refsum-Syndrom, Usher-Syndrom, Zapfen-Stäbchen-Dystrophie (ZSD), Lebersche kongenitale Amaurose (LCA), Chorioideremie, Morbus Stargardt/juvenile Makuladegeneration. Ansätze der Patientenselbsthilfe zur geeigneten Organisation und Interaktion mit dem professionellen System wurden im Rahmen eines BMG-geförderten Projekts unterstützt, analysiert und dokumentiert. Bei SND-Gruppen mit syndromalen Formen liegt im Vergleich zu nichtsyndromalen Formen ein hoher Organisationsgrad vor (Refsum-Syndrom 25%; BBS 14%; Usher-Syndrom 8%); Patienten mit syndromalen Erkrankungen (z. B. Usher-Syndrom) arbeiten auch motivierter in der Selbsthilfe mit. Sie hängen aber mehr von der Unterstützung durch Angehörige und von Hilfsmitteln ab. Folgende Tendenzen bei der Entwicklung der SND-Gruppen waren zu erkennen:

– eine zunehmende Fokussierung auf eine einzige Patientenorganisation (PRO RETINA Deutschland e. V., Vereinigung von Menschen mit Netzhautdegenerationen).
– In der Pro Retina fand ein Wachstum aller SND-Gruppen statt.
– Die SND-Gruppen verselbstständigten sich zunehmend unter dem Dach der Pro Retina.
– Ihre Außenaktivitäten nahmen deutlich zu. Es entstanden stabile Arbeitsbeziehungen zu Forschungs- und Versorgungseinrichtungen.
Insgesamt zeigt das Beispiel SND, wie seltene und vereinzelte Patienten im Gruppenzusammenhang aufgefangen werden, Ressourcen gemeinsam aufarbeiten und auf das Gesundheitssystem einwirken können.

Published
2024
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7. The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

Author

Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell-Sampol L, Catala J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, and Kohl S

Subjects
gene conversion, BCM, human visual pigment genes, opsin gene deletion, locus control region
Abstract

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 and caused by mutations in the OPN1LW/OPN1MW gene cluster on Xq28. Here, we investigated the prevalence and the landscape of submicroscopic structural variants (SVs) at single-base resolution in BCM patients. We found that about one-third (n = 73) of the 213 molecularly confirmed BCM families carry an SV, most commonly deletions restricted to the OPN1LW/OPN1MW gene cluster. The structure and precise breakpoints of the SVs were resolved in all but one of the 73 families. Twenty-two families-all from the United States-showed the same SV, and we confirmed a common ancestry of this mutation. In total, 42 distinct SVs were identified, including 40 previously unreported SVs, thereby quadrupling the number of precisely mapped SVs underlying BCM. Notably, there was no "region of overlap" among these SVs. However, 90% of SVs encompass the upstream locus control region, an essential enhancer element. Its minimal functional extent based on deletion mapping in patients was refined to 358 bp. Breakpoint analyses suggest diverse mechanisms underlying SV formation as well as in one case the gene conversion-based exchange of a 142-bp deletion between opsin genes. Using parsimonious assumptions, we reconstructed the composition and copy number of the OPN1LW/OPN1MW gene cluster prior to the mutation event and found evidence that large gene arrays may be predisposed to the occurrence of SVs at this locus.

Published
2022

30. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Author

Khan, M., Cornelis, S.S., Pozo-Valero, M.D., Whelan, L., Runhart, E.H., Mishra, K., Bults, F., AlSwaiti, Y., AlTalbishi, A., Baere, E. De, Banfi, S., Banin, E., Bauwens, M., Ben-Yosef, T., Boon, C.J.F., Born, L.I. van den, Defoort, S., Devos, A., Dockery, A., Dudakova, L., Fakin, A., Farrar, G.J., Sallum, J.M.F., Fujinami, K., Gilissen, C., Glavač, D., Gorin, M.B., Greenberg, J., Hayashi, T., Hettinga, Y.M., Hoischen, A., Hoyng, C.B., Hufendiek, K., Jägle, H., Kamakari, S., Karali, M., Kellner, U., Klaver, C.C.W., Kousal, B., Lamey, T.M., MacDonald, I.M., Matynia, A., McLaren, T.L., Mena, M.D., Meunier, I., Miller, R., Newman, H., Ntozini, B., Oldak, M., Pieterse, M., Podhajcer, O.L., Puech, B., Ramesar, R., Rüther, K., Salameh, M., Salles, M.V., Sharon, D., Simonelli, F., Spital, G., Steehouwer, M., Szaflik, J.P., Thompson, J.A., Thuillier, C., Tracewska, A.M., Zweeden, M. van, Vincent, A.L., Zanlonghi, X., Liskova, P., Stöhr, H., Roach, J.N., Ayuso, C., Roberts, L., Weber, B.H.F., Dhaenens, C.M., Cremers, F.P.M., Khan, M., Cornelis, S.S., Pozo-Valero, M.D., Whelan, L., Runhart, E.H., Mishra, K., Bults, F., AlSwaiti, Y., AlTalbishi, A., Baere, E. De, Banfi, S., Banin, E., Bauwens, M., Ben-Yosef, T., Boon, C.J.F., Born, L.I. van den, Defoort, S., Devos, A., Dockery, A., Dudakova, L., Fakin, A., Farrar, G.J., Sallum, J.M.F., Fujinami, K., Gilissen, C., Glavač, D., Gorin, M.B., Greenberg, J., Hayashi, T., Hettinga, Y.M., Hoischen, A., Hoyng, C.B., Hufendiek, K., Jägle, H., Kamakari, S., Karali, M., Kellner, U., Klaver, C.C.W., Kousal, B., Lamey, T.M., MacDonald, I.M., Matynia, A., McLaren, T.L., Mena, M.D., Meunier, I., Miller, R., Newman, H., Ntozini, B., Oldak, M., Pieterse, M., Podhajcer, O.L., Puech, B., Ramesar, R., Rüther, K., Salameh, M., Salles, M.V., Sharon, D., Simonelli, F., Spital, G., Steehouwer, M., Szaflik, J.P., Thompson, J.A., Thuillier, C., Tracewska, A.M., Zweeden, M. van, Vincent, A.L., Zanlonghi, X., Liskova, P., Stöhr, H., Roach, J.N., Ayuso, C., Roberts, L., Weber, B.H.F., Dhaenens, C.M., and Cremers, F.P.M.

Abstract

Contains fulltext : 225504.pdf (Publisher’s version ) (Closed access), 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-like probands. METHODS: Sequencing of the complete 128-kb ABCA4 gene was performed using single-molecule molecular inversion probes (smMIPs), based on a semiautomated and cost-effective method. Structural variants (SVs) were identified using relative read coverage analyses and putative splice defects were studied using in vitro assays. RESULTS: In 448 biallelic probands 14 known and 13 novel deep-intronic variants were found, resulting in pseudoexon (PE) insertions or exon elongations in 105 alleles. Intriguingly, intron 13 variants c.1938-621G>A and c.1938-514G>A resulted in dual PE insertions consisting of the same upstream, but different downstream PEs. The intron 44 variant c.6148-84A>T resulted in two PE insertions and flanking exon deletions. Eleven distinct large deletions were found, two of which contained small inverted segments. Uniparental isodisomy of chromosome 1 was identified in one proband. CONCLUSION: Deep sequencing of ABCA4 and midigene-based splice assays allowed the identification of SVs and causal deep-intronic variants in 25% of biallelic STGD1 cases, which represents a model study that can be applied to other inherited diseases.

Published
2020

38. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

Author

Buena-Atienza, E, Rüther, K, Baumann, B, Bergholz, R, Birch, D, De Baere, E, Dollfus, H, Greally, MT, Gustavsson, P, Hamel, CP, Heckenlively, JR, Leroy, BP, Plomp, AS, Pott, JWR, Rose, K, Rosenberg, T, Stark, Z, Verheij, JBGM, Weleber, R, Zobor, D, Weisschuh, N, Kohl, S, Wissinger, B, Buena-Atienza, E, Rüther, K, Baumann, B, Bergholz, R, Birch, D, De Baere, E, Dollfus, H, Greally, MT, Gustavsson, P, Hamel, CP, Heckenlively, JR, Leroy, BP, Plomp, AS, Pott, JWR, Rose, K, Rosenberg, T, Stark, Z, Verheij, JBGM, Weleber, R, Zobor, D, Weisschuh, N, Kohl, S, and Wissinger, B

Abstract

X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here we investigated 24 affected males from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We assessed twelve different OPN1LW/MW exon 3 haplotypes by semi-quantitative minigene splicing assay. Nine haplotypes resulted in aberrant splicing of ≥20% of transcripts including the known pathogenic haplotypes (i.e. 'LIAVA', 'LVAVA') with absent or minute amounts of correctly spliced transcripts, respectively. De novo formation of the 'LIAVA' haplotype derived from an ancestral less deleterious 'LIAVS' haplotype was observed in one family with strikingly different phenotypes among affected family members. We could establish intrachromosomal gene conversion in the male germline as underlying mechanism. Gene conversion in the OPN1LW/OPN1MW genes has been postulated, however, we are first to demonstrate a de novo gene conversion within the lineage of a pedigree.

Published
2016

40. Experience of patients with a rare disease may be generic for recommendations and guidelines for managing larger patient groups

Author

Brunsmann, F, Hof, P, Charbel Issa, P, Kopp, I, and Rüther, K

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Background: The role of collective patient experiences in health care needs to be defined. Pseudoxanthoma elasticum (PXE) patient organization in Germany actively supports quality improvement initiatives. There exists no special guideline for the rare disease PXE. Context: Collective experiences [for full text, please go to the a.m. URL], G-I-N Conference 2012

Published
2012
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42. Supportive strategies to improve adherence to IFN β-1b in multiple sclerosis - Results of the βPlus observational cohort study

Author

Pozzilli, C, Schweikert, B, Ecari, U, Oentrich, W, Benesova, Y, Fiedler, J, Meluzinova, E, Novotna, A, Pikova, J, Albrecht, W, Altmann, N, Augspach-Hofmann, R, Berdermann-Welz, S, Blodau, A, Bode, L, Böer, A, Botzler, D, Burkhardtde Boor, E, Christopher, A, Dieler, J, Domke, S, Eckhardt, U, Eder, H, Faiss, J, Fegers, S, Franz, P, Freidel, M, Haas, J, Hackebeil, C, Helfrich, S, Herzog, S, Hofmann, W, Käfferlein, W, Kausch, U, Kaya, B, Korda, W, Krumpolt, H, Luber, G, Maier, I, Mamerow, U, Müllner, E, Niedhammer, M, Oschmann, P, Ossig, W, Peschel, S, Piepenbrock, N, Rauber, A, Rauch, G, Rohrer, G, Rosenthal, A, Rüther, K, Safavi, A, Schlote, M, Schnelzer, R, Seifert, E, Seybold, J, Siefjediers, V, Siever, A, Veit, B, Wietfeld, R, Abbasyonn, T, Abdoli, M, Abolfazli, R, Airemlou, H, Alikhani, K, Ashjazadeh, N, Ashtari, F, Azarangi, D, Azarians, S, Azimi, B, Azimian, M, Beladimoghadam, N, Chitsaz, A, Etemadyfar, M, Farhoudi, M, Fayaz Nekoo, M, Ghadiri, F, Ghazvinian, S, Ghelich Nia Emrani, H, Ghorbani, A, Harirchian, M. H, Homam, M, Ilkhani, M, Khosravi, K, Lotfi, J, Malekzadeh, G, Moshiri, Z, Motamadi, M, Motamed, M. M, Nabavi, S, Nafissi, S, Najlerahim, A, Nikanfar, M, Nikkhah, K, Nikseresht, A, Noorian, A, Oraki, Z, Pashapour, A, Pourmahmoudian, H, Saadatnia, M, Sadeghi, H, Sadreddini, S, Saeidi, M, Sahraian, M, Salarjan, B, Sasannezhad, P, Seifi, J, Shahbeigi, S, Shahidi, M, Shariat, A, Shaygannejad, V, Tabatabaei, M, Togha, M, Torabi, H, Vosooghi, R, Yousefi Azarfam, J, Yousefipour, G, Block, I, Karni, A, Karussis, D, Kirshner, I, Miller, A, Milo, R, Amato, M, Annunziata, P, Assetta, M, Batocchi, A, Brescia Morra, V, Carbonin, C, Carolei, A, Catalan, M, Cavallo, R, Comi, G, Coniglio, M, Constantino, F, Costantino, C, Cottone, S, Durelli, L, Ferraro, E, Ghezzi, A, Gometto, B, Grasso, M, Greco, L, Handouk, Y, Iudice, A, Koudriautseva, T, Lugaresi, A, Maimone, D, Mannu, L, Marchioretto, F, Marrosu, M, Meola, G, Millefiorini, E, Montanari, E, Patti, F, Pauri, F, Plewnia, K, Protti, A, Reggio, A, Rottoli, M, Sinisi, L, Spitaleri, D, Tola, M. R, Abdallah, H, Eid, H, Ezzeddine, F, Jbelly, S, Khamis, C, Koussa, S, Masri, W, Sawaya, R, Serhan, A, Shatila, A. R, Souklawi, K, Sukkari, R, Tfaily, H, Traboulsi, H, Wehbi, M, Yamout, B, Hadich, M. S, Baal, M. G, Dellemyn, P, Driesen, J. J. M, Timmerhues, T. P. J, Valente, I, Abduljabar, M, Cho, K. H, Kim, J. W, Sangdoe, Y, Batue, J, Ramio, L, Benrabah, R, Couur, B, D'Gal, O, Gras, P, Guinot, H, Lemarquis, P, Munoz-Lacoste, P, Nayef, A, Vaunaize, J, Visy, J. -M, Vongsouthi, C, Chang, W. N, Tain-Junn, C, Yeh, S. J, Celebi, A, Erdemoglu, A. K, Gedizlioglu, M, Uysal Tan, F, Pozzilli C, Schweikert B, Ecari U, Oentrich W, BetaPlus Study group, Lugaresi A, Pozzilli, C, Schweikert, B, Ecari, U, Oentrich, W, and BRESCIA MORRA, Vincenzo

Subjects
Adult, Male, medicine.medical_specialty, Coping (psychology), Health outcomes, Medication Adherence, Cohort Studies, Multiple sclerosis, Adjuvants, Immunologic, Autoinjector, medicine, Humans, Prospective Studies, nurses, adherence, interferon beta-1b, multiple sclerosis, coping styles, autoinjector devices, business.industry, Interferon beta-1b, Interferon-beta, interferon beta, adherence, injection device, Middle Aged, medicine.disease, Patient support, Settore MED/26 - NEUROLOGIA, Disease factors, Neurology, Physical therapy, Female, Neurology (clinical), business, Cohort study
Abstract

Background: Low adherence to treatment in Multiple Sclerosis (MS) has been shown to lead to poor health outcomes. Various strategies to improve adherence have been suggested including educative programs, injection devices and dedicated nurse assistance. Objective: To assess the impact of elements of the patient support program on adherence; to explore disease factors affecting adherence; and to determine whether these factors influence the choices of supportive elements. Methods: A prospective, observational cohort study was conducted. MS patients were eligible if they had switched to Interferon beta-1b (IFNB-1b) between 1 and 3 months prior to inclusion. Data were collected at months 6, 12, 18 and 24 after inclusion. Adherence was defined as completion of both study protocol and medication at 24 months. Patients underwent evaluations of disability, quality of life, depression, and coping styles. Results: A total of 1077 patients from 15 countries were included, of which 61.8% were adherent to IFNB-1b after 24-months. Depression, quality of life and autoinjector devices were baseline predictors of adherence at 24-months. Coping styles did not show to have substantial impact on adherence. Lower quality of life increased the probability of choosing supportive elements. Conclusion: The study showed that the usage of autoinjector devices chosen during the study was the strongest predictor of drug adherence of all the supportive elements tested in this study. (C) 2011 Elsevier B.V. All rights reserved.

Published
2011

44. Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds

Author

Brunner, S, Skosyrski, S, Kirschner-Schwabe, R, Knobeloch, K-P, Neidhardt, J, Feil, S, Glaus, E, Luhmann, U F O, Rüther, K, Berger, W, University of Zurich, and Berger, W

Subjects
11124 Institute of Medical Molecular Genetics, 2809 Sensory Systems, 10039 Institute of Medical Genetics, 2804 Cellular and Molecular Neuroscience, 570 Life sciences, biology, 610 Medicine & health, 2731 Ophthalmology
Published
2010
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