Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Urania Kotzaeridou"'
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor:
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz:
https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
Autor:
Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer, Urania Kotzaeridou, Georg F. Hoffmann, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Johannes A. Mayr, Michaela Frye, Holger Prokisch, Michal Minczuk
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
The post-transcriptional 5-methylcytosine (m5C) modification occurs in a wide range of nuclear-encoded RNAs. Here the authors identify the mitochondrial tRNA-Met as a target for the m5C methyltransferase NSun3—found mutated in a mitochondrial disea
Externí odkaz:
https://doaj.org/article/95601b7fb2264bc4b7cdfae73ac97c8e
Autor:
Hans Demmelmair, Anita MacDonald, Urania Kotzaeridou, Peter Burgard, Domingo Gonzalez-Lamuno, Elvira Verduci, Melike Ersoy, Gulden Gokcay, Behiye Alyanak, Eva Reischl, Wolfgang Müller-Felber, Fabienne Lara Faber, Uschi Handel, Sabrina Paci, Berthold Koletzko
Publikováno v:
Nutrients, Vol 10, Iss 12, p 1944 (2018)
Children with phenylketonuria (PKU) follow a protein restricted diet with negligible amounts of docosahexaenoic acid (DHA). Low DHA intakes might explain subtle neurological deficits in PKU. We studied whether a DHA supply modified plasma DHA and neu
Externí odkaz:
https://doaj.org/article/d18bed7101184b83992e1f3c8c9a3493
Autor:
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner
Most individuals with rare diseases initially consult their primary care physician. For a subset of rare diseases, efficient diagnostic pathways are available. However, ultra-rare diseases often require both expert clinical knowledge and comprehensiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824
https://doi.org/10.1101/2023.04.19.23288824
Autor:
Nicola Dikow, Alyssa Bianzano, Robert Kopajtich, James R. Lupski, Gajja S. Salomons, Jennifer E. Posey, Saskia Biskup, Jill A. Rosenfeld, Bruce H. R. Wolffenbuttel, Dominic Lenz, Saskia B. Wortmann, Denise Horn, Urania Kotzaeridou, Joanne Hughes, Maya Huijberts, Simone Kathemann, Tobias B. Haack, Stefan Kölker, Elke Lainka, Ralf A. Husain, Fleur Vansenne, Sébastien Küry, Andrea Hanson-Kahn, Bertrand Isidor, Matias Wagner, Ellen Crushell, Inga Harting, Jonathan A. Bernstein, Lucia Laugwitz, Dominique Caldari, Desirée E.C. Smith, Marisa I. Mendes, Christian Staufner, Julian Schröter, Claire Reynolds, Heiko Brennenstuhl, Claudia Weiß, Bader Alhaddad, Holger Prokisch, Georg F. Hoffmann
Publikováno v:
Genet. Med. 22, 1863-1873 (2020)
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Purpose: Biallelic variants in LARS1, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of the clinical spectrum and genetic finding
Autor:
Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill Saadi, Sandra Whalen, Theresa Brunet, Urania Kotzaeridou, Daniela Choukair, Boris Keren, Caroline Nava, Mitsuhiro Kato, Hiroshi Arai, Tawfiq Froukh, Eissa Ali Faqeih, Ali M. AlAsmari, Mohammed M. Saleh, Filippo Pinto e Vairo, Pavel N. Pichurin, Eric W. Klee, Christopher T. Schmitz, Christopher M. Grochowski, Tadahiro Mitani, Isabella Herman, Daniel G. Calame, Jawid M. Fatih, Haowei Du, Zeynep Coban-Akdemir, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, Satoko Miyatake, Naomichi Matsumoto, Laura J. Wagstaff, Jennifer E. Posey, James R. Lupski, Dies Meijer, Matias Wagner
Publikováno v:
Am J Hum Genet
Marafi, D, Kozar, N, Duan, R, Bradley, S, Yokochi, K, Al Mutairi, F, Waill Saadi, N, Whalen, S, Brune, T, Kotzaeridou, U, Choukair, D, Keren, B, Nava, C, Kato, M, Arai, H, Froukh, T, Faqeih, E A, AlAsmari, A M, Saleh, M M, Vairo, F P E, Pichurin, P N, Klee, E W, Schmitz, C T, Grochowski, C M, Mitani, T, Herman, I, Calame, D, Faith, J M, Du, H, Coban-Akdemir, Z, Pehlivan, D, Jhangiani, S N, Gibbs, R A, Miyatake, S, Matsumoto, N, Wagstaff, L J, Posey, J E, Lupski, J R, Meijer, D & Wagner, M 2022, ' A reverse Genetics and Genomics Approach to Gene Paralog Function and Disease : Myokymia and The Juxtaparanode ', American Journal of Human Genetics, vol. 109 . https://doi.org/10.1016/j.ajhg.2022.07.006
Am. J. Hum. Genet. 109, 1713-1723 (2022)
Marafi, D, Kozar, N, Duan, R, Bradley, S, Yokochi, K, Al Mutairi, F, Waill Saadi, N, Whalen, S, Brune, T, Kotzaeridou, U, Choukair, D, Keren, B, Nava, C, Kato, M, Arai, H, Froukh, T, Faqeih, E A, AlAsmari, A M, Saleh, M M, Vairo, F P E, Pichurin, P N, Klee, E W, Schmitz, C T, Grochowski, C M, Mitani, T, Herman, I, Calame, D, Faith, J M, Du, H, Coban-Akdemir, Z, Pehlivan, D, Jhangiani, S N, Gibbs, R A, Miyatake, S, Matsumoto, N, Wagstaff, L J, Posey, J E, Lupski, J R, Meijer, D & Wagner, M 2022, ' A reverse Genetics and Genomics Approach to Gene Paralog Function and Disease : Myokymia and The Juxtaparanode ', American Journal of Human Genetics, vol. 109 . https://doi.org/10.1016/j.ajhg.2022.07.006
Am. J. Hum. Genet. 109, 1713-1723 (2022)
The leucine-rich glioma-inactivated (LGI) family consists of four highly conserved paralogous genes, LGI1-4, that are highly expressed in mammalian central and/or peripheral nervous systems. LGI1 antibodies are detected in subjects with autoimmune li
Autor:
Matias Wagner, Sara K. Young-Baird, Urania Kotzaeridou, Thomas E. Dever, Tim M. Strom, Vera M. Kalscheuer, Vanessa Suckow, Alexis G. Thornburg, Inga Harting, Stine Christ
Publikováno v:
Clinical Genetics. 98:507-514
Rare pathogenic EIF2S3 missense and terminal deletion variants cause the X-linked intellectual disability (ID) syndrome MEHMO, or a milder phenotype including pancreatic dysfunction and hypopituitarism. We present two unrelated male patients who carr
Autor:
Olivia Wenger, Matteo P. Ferla, Ilka Warshawsky, Martin Munteanu, Cas Simons, Matthew Wakeling, Claire G. Salter, Joshua A. Lees, Bernice Lo, Pietro De Camilli, Emma L. Baple, Sara Van Meerbeke, G. Christoph Korenke, Frederico Zara, Barry A. Chioza, Catherine Ward Melver, Manish J. Butte, M. Traverso, Henry Taylor, Marjo S. van der Knaap, Andrew H. Crosby, Matthew Keisling, Joseph S Leslie, Christin Deal, James Fasham, Helen Cox, Ethan M. Scott, Guy Helman, Amber J. McCartney, Yiying Cai, Mamoun Elawad, Tamas Marton, Nicole I. Wolf, Dirk Holzinger, Harold E. Cross, Holm H. Uhlig, Deyana Valcheva, Tamas Balla, Urania Kotzaeridou, Joanna Crawford, Andrea Accogoli, Utkucan Acar, Stephan Tippelt, Dimitris P. Agamanolis, Catherine Walsh Vockley
Publikováno v:
Salter, C G, Cai, Y, Lo, B, Helman, G, Taylor, H, McCartney, A, Leslie, J S, Accogli, A, Zara, F, Traverso, M, Fasham, J, Lees, J A, Ferla, M P, Chioza, B A, Wenger, O, Scott, E, Cross, H E, Crawford, J, Warshawsky, I, Keisling, M, Agamanolis, D, Ward Melver, C, Cox, H, Elawad, M, Marton, T, Wakeling, M N, Holzinger, D, Tippelt, S, Munteanu, M, Valcheva, D, Deal, C, van Meerbeke, S, Walsh Vockley, C, Butte, M J, Acar, U, van der Knaap, M S, Korenke, G C, Kotzaeridou, U, Balla, T, Simons, C, Uhlig, H H, Crosby, A H, de Camilli, P, Wolf, N I & Baple, E L 2021, ' Biallelic PI4KA variants cause neurological, intestinal and immunological disease ', Brain, vol. 144, no. 12, pp. 3597-3610 . https://doi.org/10.1093/brain/awab313
Brain
Brain: a journal of neurology, vol 144, iss 12
Brain, 144(12), 3597-3610. Oxford University Press
Brain
Brain: a journal of neurology, vol 144, iss 12
Brain, 144(12), 3597-3610. Oxford University Press
Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα’s role in PI4P g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e4d2ffb57a785b47391a6347add81c
https://research.vumc.nl/en/publications/e126a072-33f6-48db-9efb-ecd71589d3d8
https://research.vumc.nl/en/publications/e126a072-33f6-48db-9efb-ecd71589d3d8
Autor:
Alexander M. Holtz, Rachel VanCoillie, Elizabeth A. Vansickle, Deanna Alexis Carere, Kara Withrow, Erin Torti, Jane Juusola, Francisca Millan, Richard Person, Maria J. Guillen Sacoto, Yue Si, Ingrid M. Wentzensen, Jada Pugh, Georgia Vasileiou, Melissa Rieger, André Reis, Emanuela Argilli, Elliott H. Sherr, Kimberly A. Aldinger, William B. Dobyns, Theresa Brunet, Julia Hoefele, Matias Wagner, Benjamin Haber, Urania Kotzaeridou, Boris Keren, Delphine Heron, Cyril Mignot, Solveig Heide, Thomas Courtin, Julien Buratti, Serini Murugasen, Kirsten A. Donald, Emily O’Heir, Shade Moody, Katherine H. Kim, Barbara K. Burton, Grace Yoon, Miguel del Campo, Diane Masser-Frye, Mariya Kozenko, Christina Parkinson, Susan L. Sell, Patricia L. Gordon, Jeremy W. Prokop, Amel Karaa, Caleb Bupp, Benjamin A. Raby
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(10)
Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle myosin II heavy chain genes, MYH9, MYH10, and MYH14. As opposed to MYH9 and MYH14, no recogni
Autor:
Gajja S. Salomons, Urania Kotzaeridou, Travis Moore, Chiara Aiello, Frances Elmslie, Isabelle Thiffault, Francesco Nicita, Saskia Biskup, Paola Goffrini, Karen Stals, Ralf A. Husain, Sonia Figuccia, Amy Pizzino, Rosalba Carrozzo, Cas Simons, Enrico Bertini, Alessandra Torraco, Guy Helman, Ulrich Brandl, Geneviève Bernard, Desirée E.C. Smith, Ryan J. Taft, Rajat Gupta, Tobias B. Haack, Alexa Derksen, Adeline Vanderver, Theresa A. Grebe, Michela Catteruccia, Raphael Schiffmann, Marisa I. Mendes, Marjo S. van der Knaap, Darja Gauck, Andreas Hahn, Lama Darbelli, Omar Sherbini, Ines Brösse, Kinga Hadzsiev
Publikováno v:
Genetics in medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, ' Expanded phenotype of AARS1-related white matter disease ', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359 . https://doi.org/10.1038/s41436-021-01286-8
Genetics in Medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, ' Expanded phenotype of AARS1-related white matter disease ', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359 . https://doi.org/10.1038/s41436-021-01286-8
Genetics in Medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Purpose: Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from the index presentations. We sought to assess phenotypic variability in individuals with AA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca95affd452f17a6c485d3de16d5b85b
https://pure.amc.nl/en/publications/expanded-phenotype-of-aars1related-white-matter-disease(f8099511-a150-409f-89b2-4af617ac64f8).html
https://pure.amc.nl/en/publications/expanded-phenotype-of-aars1related-white-matter-disease(f8099511-a150-409f-89b2-4af617ac64f8).html