Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

Autor: Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, G. Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J. Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B. Haack, Paul J. Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

Abstract Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 AAG repeats (full penetrance), but the sequence of pathogenic and non-patho

Externí odkaz: https://doaj.org/article/6570a285e9844430857f2e885f205ade

Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

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Anderssen, Lital Keinan Boker, Eero Kajantie, Martin Gulliford, Maties Torrent, Sumit Bharadwaj, Toshiharu Ninomiya, Zbigniew Gaciong, Nayu Ikeda, Li Juan Wu, Adrian Richter, Licia Iacoviello, Marc J. Gunter, Wenbin Wei, Norsyamlina Che Abdul Rahim, Eman Aly, Ambady Ramachandran, Nils Lehmann, Soile E. Puhakka, Giovanni Veronesi, Hongsheng Bi, Eiji Oda, Jia Li Duan, Per Tynelius, José María Huerta, Janne Schurmann Tolstrup, Rodrigo M. Carrillo-Larco, Rosangela Fernandes Lucena Batista, Victoria E Soto-Rojas, Hanno Ulmer, Shukri F. Mohamed, Anthony Kafatos, Suyeon Park, Mohsen Ibrahim, Hamed Pouraram, Bin Zhou, May Soe Aung, Lars Bo Andersen, Erfan Ghasemi, René Charles Sylva, Himanshu K. Chaturvedi, Luc Dauchet, Ahmad Ali Zainuddin, Angela Chetrit, Dan Zhu, Valérie Deschamps, Ko Ko Zaw, Peter Vollenweider, Tomas Vega, Yves Martin-Prével, Mahfuzar Rahman, Dorja Vočanec, Roman Topor-Madry, Vinay Nangia, Herculina S. 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Machado-Rodrigues, Fatemeh Malekzadeh, Shouling Wu, Jennifer L. Baker, Clicerio González-Villalpando, Eleonora d'Orsi, Irene G. M. van Valkengoed, Anna Fijałkowska, Wen-Harn Pan, Gregor Starc, Meghnath Dhimal, Murat Topbaş, George Moschonis, Robert Eggertsen, Abdullah Alkandari, Quang Ngoc Nguyen, Janette Walton, Elnaz Faramarzi, Saeed Dastgiri, Lien Braeckevelt, Nasheeta Peer, Radka Taxová Braunerová, Mohamed M. Ali, Steiner Krokstad, Harald Geiger, Morteza Shamshirgaran, Lela Shengelia, María Ángeles Dal Re Saavedra, Silvana Donoso, Khem Bahadur Karki, Timothy J. Key, Maria G. Grammatikopoulou, Susana Vale, Felix K. Assah, Juan A Rivera, Peter H. Whincup, Oana-Florentina Gheorghe-Fronea, Cassiano Ricardo Rech, Paul Ferdinand M. Reganit, Rachakulla Hari Kumar, Jaakko Mursu, Luis A. Moreno, Glen Gironella, Jelena Kos, Tilema Cama, Haakon E. Meyer, Jun Ma, Raphael E. Arku, Ziad Abdeen, Dianna J. Magliano, Jitendra Jonnagaddala, Konstantinos Gkiouras, Paola Nardone, Alberto Barceló, Tomi-Pekka Tuomainen, Francesco Gianfagna, Stefania Maggi, Mohammad Hossein Somi, Behrooz Hamzeh, Miquel Porta, Vesna Jureša, Alexander D. Deev, David Faeh, Antonio Bernabe-Ortiz, Sirkka Keinänen-Kiukaanniemi, Ian Hambleton, Stefan Savin, Andre Pascal Kengne, R. Krishna Kumar, Kurt Widhalm, Marco M Ferrario, Parisa Amiri, Anjani Kumar Jha, Thamara Hubler Figueiró, Jana Kratenova, Claudia M. Hormiga, Maria Tsigga, Zivka Dika, Indrapal I. Meshram, Ei Ei K. Nang, Ian Rouse, Rusidah Selamat, Paul Korrovits, Grethe S. Tell, Julie Taylor, Anabela Mota-Pinto, Paolo Vineis, Kotsedi D Monyeki, Khuong Quynh Long, Frank J Rühli, Shelly R. McFarlane, Sara Santos Sanz, Edyta Łuszczki, Maria G. Stathopoulou, Tara Coppinger, Karin De Ridder, Lucie Viet, Anna Bugge, Mehdi Yaseri, Safiah Md Yusof, Sandra C. Fuchs, Muhammad Islam, Irfan Nuhoglu, Rui Providência, Bernard Maire, Leandra Abarca-Gómez, Sinead Brophy, Maria Ruiz-Castell, Daniela Pierannunzio, Cristina Taddei, Gowri Mahasampath, Gustavo Velasquez-Melendez, Hanna Tolonen, Sudhir Kowlessur, Bagher Larijani, Laura Torres-Collado, Susi Kriemler, Ali Akbar Shayesteh, Cynthia Robitaille, Jorge Escobedo-de la Peña, Yufang Bi, Chinh Nguyen Huu, Line Tang Møllehave, Vincent Jr DeGennaro, Noor Ani Ahmad, Anar Dushpanova, Agustinus Soemantri, Susana Sans, Ionela Pascanu, Gwenaëlle Le Coroller, Inger Ariansen, Kodanda R Kanala, Gert B. M. Mensink, Abhijit Sen, Sergej M. Ostojic, Hanan F. Abdul Rahim, Hélène Delisle, Francisco J. Félix-Redondo, Yadlapalli S. Kusuma, Michael Knoflach, Moein Yoosefi, Tanja G. M. Vrijkotte, Wolfgang Ahrens, Osvaldo Santos, Bethlehem D. Solomon, Erik Lykke Mortensen, Nikhil D. Patel, Reynaldo Martorell, Ching-Yu Cheng, Stine Schramm, Hana Shimizu-Furusawa, Jacek Jóźwiak, Radwan Qasrawi, Herman Borghs, Zhanna Kalmatayeva, Heidi Klakk, Akram Pourshams, Naomi S. Levitt, Son Thai Pham, Simona Giampaoli, Dong Zhao, Indah Suci Widyahening, Merete Osler, Paula Margozzini, Silvia Bel-Serrat, Dora Romaguera, Monira Alarouj, Winsome R. Parnell, Marloes Cardol, Giota Touloumi, Janice Luisa Lukrafka, Adela Chirita-Emandi, Maryam Kavousi, Sanja Musić Milanović, Jean-Michel Gaspoz, Jalila El Ati, Sauli Herrala, Liang Xu, Pilar Guallar-Castillón, Bee Koon Poh, Luis Serra-Majem, Jonathan E. Shaw, Belong Cho, Daphne Mirkopoulou, Salvador Villalpando, Yuki Fujita, Tiffany K. Gill, Nish Chaturvedi, Erkin M. Mirrakhimov, Günay Can, Mark Woodward, Esther Lopez-Garcia, Mauro Virgílio Gomes de Barros, Ahmed A. Madar, Shoaib Afzal, Melanie J. Cowan, Gareth Stratton, Eduardo Salazar Martinez, Sameer Narake, Norie Sawada, Deepak Amarapurkar, Deepa Weerasekera, Diana A. Santos, Marjeta Majer, Herman Schargrodsky, Bruna Gonçalves Cordeiro da Silva, Ebrahim Eftekhar, Jesús Vioque, Marisa K. Sophiea, Teresa Shamah-Levy, María Dolores Chirlaque, Mohd Azahadi Omar, Stefan Söderberg, Isabel O. Oliveira, Joanne Katz, Xingwang Ye, Christophe Tzourio, Marie Zins, Aneta Weres, Ulrich Keil, Haiquan Xu, Akihiro Yoshihara, Rachel Dankner, Gabriella Gruden, Maroje Sorić, Hanspeter Stamm, Kim Overvad, Yanping Li, Carsten Oliver Schmidt, Christa L. Lilly, Veikko Salomaa, Gilad Twig, Senthil K Vasan, Qian Wang, Liufu Cui, Andrzej Galbarczyk, Sylvain Sebert, Wilma M. Hopman, Karl-Heinz Jöckel, Ari Voutilainen, Peter Schnohr, Jerzy Chudek, Katia Vergetti Bloch, Vincenzo Capuano, Jyh Eiin Wong, Torben Jørgensen, Anja Schienkiewitz, Nader Saki, Carolina Tarqui-Mamani, Maria Cecília Formoso Assunção, Kazi M. Jamil, Juraci Almeida Cesar, Pedro J Ortiz, Delphine De Smedt, Luciana Zaccagni, Lynne M. Boddy, Jie Hao, David Alejandro González-Chica, Romana Roccaldo, Sara Magnacca, Peter Stehle, Victoria Farrugia Sant'Angelo, Gry Skodje, Maryam Keramati, Tabara Yasuharu, Ali Ghanbari, Gyulli M. Kazakbaeva, Takuro Furusawa, Felicia Cañete, Kari Kuulasmaa, Justina Vaitkeviciute

Publikováno v: eLife 10 (2021)
e60060
eLIFE
eLife, Vol 10 (2021)
eLife
eLife, eLife Sciences Publication, 2021, 10 (e60060), ⟨10.7554/elife.60060⟩
eLife, 10:e60060. eLife Sciences Publications
eLife, 10:e60060. eLife Sciences Publications Limited
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
NCD Risk Factor Collaboration (NCD-RisC) 2021, ' Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight ', eLife, vol. 10, e60060 . https://doi.org/10.7554/eLife.60060
ELIFE
NCD Risk Factor Collaboration (NCD-RisC), Damsgaard, C T, Michaelsen, K F, Afzal, S, Ängquist, L, Bojesen, S E, Frikke-Schmidt, R, Molbo, D, Mortensen, E L, Nordestgaard, B, Sørensen, T I A & Varbo, A 2021, ' Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight ', eLife, vol. 10, e60060 . https://doi.org/10.7554/eLife.60060
eLife, 10, 1. eLife Sciences Publications
Repositorio Abierto de la UdL
Universitad de Lleida
eLife 10 (2021): e60060. doi:10.7554/eLife.60060
info:cnr-pdr/source/autori:NCD Risk Factor Collaboration (NCD-RisC)*; Russo P, Siani A, Maggi S, Noale M/titolo:Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight./doi:10.7554%2FeLife.60060/rivista:eLife/anno:2021/pagina_da:e60060/pagina_a:/intervallo_pagine:e60060/volume:10
Iurilli, Maria LC
eLife, 10
NCD Risk Factor Collaboration (NCD-RisC) 2021, ' Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight ', eLife, vol. 10, 60060 . https://doi.org/10.7554/eLife.60060
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
NCD Risk Factor Collaboration (NCD-RisC) & Wu, F C 2021, ' Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight ', eLife, vol. 10 . https://doi.org/10.7554/eLife.60060
eLife, 10:e60060
eLife, 2021, 10 (e60060), ⟨10.7554/elife.60060⟩

From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated how much change in mean body m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f85c7cf14b7e3cf26b6b25999f092f87
https://research.wur.nl/en/publications/heterogeneous-contributions-of-change-in-population-distribution-

Additive prognostic value of vascular aging and coronary artery calcium for all-cause mortality in the Heinz Nixdorf Recall Study

Autor: Ulla Roggenbuck, Nils Lehmann, Karl-Heinz Joeckel, Susanne Moebus, Siegfried Wassertheurer, Raimund Erbel, Sara Schramm, Bernhard Hametner, Thomas Weber, Christopher C. Mayer

Publikováno v: European Heart Journal. 41

Background Vascular aging, defined by aortic pulse wave velocity (aoPWV), as well as coronary artery calcium (CaC), are emerging risk predictors. Purpose To investigate the prognostic role of functional (vascular aging) and structural (CaC) arterial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6bf68365f5ebd5b9939d997019f9baf
https://doi.org/10.1093/ehjci/ehaa946.2824

VASCULAR AGING INDEPENDENTLY PREDICTS ALL-CAUSE MORTALITY IN THE HEINZ NIXDORF RECALL STUDY

Autor: Raimund Erbel, Nils Lehmann, Karl Heinz Joeckel, Thomas Weber, Bernhard Hametner, Siegfried Wassertheurer, Sara Schramm, Christopher C. Mayer, Susanne Moebus, Ulla Roggenbuck

Publikováno v: Journal of Hypertension. 39:e66

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::421cb116ebf0f017af9fb179fff03545
https://doi.org/10.1097/01.hjh.0000745060.56456.16

Experience with One-Stage Repair of Urethral Strictures Using the Augmented Anastomotic Repair Technique

Autor: Darko Kroepfl, Michael Musch, Mirko Maek, Susanne Krege, Inga Kunz, Ulla Roggenbuck, Anne Vogel

Introduction: We report the results of augmented anastomotic repair (AAR) in the treatment of anterior urethral strictures. Material and Methods: In this retrospective study, we evaluated 71 consecutive patients who had undergone AAR between June 200

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9de9d58c47729414f66d2daf58b17803
https://www.ncbi.nlm.nih.gov/pubmed/29719299