Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Aida Bertoli Avella"'
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:
Ghada M. H. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit S. Budde, Mohammad Reza Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel-Hamid, Ibrahim Hegazy, Ahmed G. Mohamed, Dominik T. Schneider, Aida Bertoli-Avella, Peter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa A. Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz
Publikováno v:
JCI Insight, Vol 8, Iss 22 (2023)
MAD2L1BP-encoded p31comet mediates Trip13-dependent disassembly of Mad2- and Rev7-containing complexes and, through this antagonism, promotes timely spindle assembly checkpoint (SAC) silencing, faithful chromosome segregation, insulin signaling, and
Externí odkaz:
https://doaj.org/article/c2f7dbb684e54ea28e6d06a849f00507
Autor:
Majid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Ahmed Alfares, Brahim Tabarki
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common. Thirty disorders were includ
Externí odkaz:
https://doaj.org/article/16784d501eb142d69ee3665c6c73dd51
Autor:
Uwe Kornak, Namrata Saha, Boris Keren, Alexander Neumann, Ana Lisa Taylor Tavares, Juliette Piard, Johannes Kopp, João Guilherme Rodrigues Alves, Miguel Rodríguez de los Santos, Naji El Choubassi, Nadja Ehmke, Marten Jäger, Malte Spielmann, Jean Tori Pantel, Elodie Lejeune, Beatrix Fauler, Thorsten Mielke, Jochen Hecht, David Meierhofer, Tim M. Strom, Vincent Laugel, Alexis Brice, Stefan Mundlos, Aida Bertoli-Avella, Peter Bauer, Florian Heyd, Odile Boute, Juliette Dupont, Christel Depienne, Lionel Van Maldergem, Björn Fischer-Zirnsak
Publikováno v:
Genetics in Medicine. 24:1927-1940
In this study we aimed to identify the molecular genetic cause of a progressive multisystem disease with prominent lipodystrophy.In total, 5 affected individuals were investigated using exome sequencing. Dermal fibroblasts were characterized using RN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a757c26002f39f2be33630ad4c51a8dc
https://doi.org/10.1016/j.gim.2022.05.004
https://doi.org/10.1016/j.gim.2022.05.004
Autor:
Aida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira, Anett Marais, Khoula Al Shidhani, Sumaya Aloraimi, Galina Morales-Torres, Steffen Fisher, Laura Demuth, Laila Abdel Moteleb Selim, Nihal Al Menabawy, Maryam Busehail, Mohammed AlShaikh, Naser Gilani, Dler Nooruldeen Chalabi, Nasser S Alharbi, Majid Alfadhel, Mohammed Abdelrahman, Hanka Venselaar, Nadeem Anjum, Anjum Saeed, Malak Ali Alghamdi, Hamad Aljaedi, Hisham Arabi, Vasiliki Karageorgou, Suliman Khan, Zahra Hajjari, Mandy Radefeldt, Ruslan Al-Ali, Kornelia Tripolszki, Amer Jamhawi, Omid Paknia, Claudia Cozma, Huma Cheema, Najim Ameziane, Saleh Al-Muhsen, Peter Bauer
Publikováno v:
Journal of Medical Genetics, 59, 993-1001
Journal of Medical Genetics, 59, 10, pp. 993-1001
Journal of Medical Genetics, 59, 10, pp. 993-1001
PurposeWe sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.MethodsExome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c4a0faa290a3077e80ae69e0f23f9e
https://doi.org/10.1136/jmedgenet-2021-108150
https://doi.org/10.1136/jmedgenet-2021-108150
Autor:
Christian A. E. Westrip, Franziska Paul, Fathiya Al-Murshedi, Hashim Qaitoon, Breana Cham, Sally C. Fletcher, Eline Hendrix, Uncaar Boora, Alvin Yu Jin Ng, Carine Bonnard, Maryam Najafi, Salem Alawbathani, Imelda Lambert, Gabriel Fox, Byrappa Venkatesh, Aida Bertoli-Avella, Ee Shien Tan, Almundher Al-Maawali, Bruno Reversade, Mathew L. Coleman
DRG1 is a highly conserved member of a class of GTPases implicated in ribosome biogenesis and translation. The expression of mammalian DRG1 is elevated in the central nervous system during development, and its function has been implicated in fundamen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe1734b072495feaa6e871cf58a1f106
https://doi.org/10.1101/2022.09.20.22279914
https://doi.org/10.1101/2022.09.20.22279914
Autor:
Antonia, Lefter, Iulia, Mitrea, Dan, Mitrea, Vasilica, Plaiasu, Aida, Bertoli-Avella, Christian, Beetz, Liviu, Cozma, Delia, Tulbă, Cristina Elena, Mitu, Bogdan Ovidiu, Popescu
Publikováno v:
Neurocase. 27:481-483
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited disorders characterised by cerebral iron overload mainly in the basal ganglia. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a form of NBIA caused b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b683300b9bd6b9398feba434648d0c
https://doi.org/10.1080/13554794.2021.2022703
https://doi.org/10.1080/13554794.2021.2022703
Autor:
Peter Bauer, Luba M. Pardo, Pilar Guatibonza Moreno, Tobias Böttcher, Jorge Pinto Basto, Aida Bertoli Avella
Publikováno v:
Molecular Genetics and Metabolism. 138:107025
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61a2d0f0f60cab5234ba8f120a1c5536
https://doi.org/10.1016/j.ymgme.2022.107025
https://doi.org/10.1016/j.ymgme.2022.107025
Autor:
Eissa A. Faqeih, Malak Ali Alghamdi, Marwa A. Almahroos, Essa Alharby, Makki Almuntashri, Amnah M. Alshangiti, Prouteau Clément, Daniel G. Calame, Leila Qebibo, Lydie Burglen, Martine Doco-Fenzy, Mario Mastrangelo, Annalaura Torella, Filippo Manti, Vincenzo Nigro, Ziegler Alban, Ghadeer Saleh Alharbi, Jamil Amjad Hashmi, Rawya Alraddadi, Razan Alamri, Tadahiro Mitani, Barth Magalie, Zeynep Coban-Akdemir, Bilgen Bilge Geckinli, Davut Pehlivan, Antonio Romito, Vasiliki Karageorgou, Javier Martini, Estelle Colin, Dominique Bonneau, Aida Bertoli-Avella, James R. Lupski, Annalisa Pastore, Roy W.A. Peake, Ashraf Dallol, Majid Alfadhel, Naif A.M. Almontashiri
© 2022 American College of Medical Genetics and GenomicsPurpose: Pathogenic variants in genes encoding ubiquitin E3 ligases are known to cause neurodevelopmental syndromes. Additional neurodevelopmental disorders associated with the other genes enco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04c2dd92120eef11b5b24601e4473af4
https://hdl.handle.net/11573/1662950
https://hdl.handle.net/11573/1662950
Autor:
Fabiano de Oliveira Poswar, Jonas Alex Morales Saute, Thayne Woycinck Kowalski, Aida Bertoli-Avella, Augusto César Cardoso-dos-Santos, Lavinia Schuler-Faccini, Thiago Oliveira Silva, Anderson Silveira Faccini
Publikováno v:
Molecular Syndromology. 11:24-29
Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in AHDC1. In this study, we identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51422ebdc8a0c35bc75a5b4c336a3b32
https://doi.org/10.1159/000505843
https://doi.org/10.1159/000505843