Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Anne Gregor"'
Autor:
Matthias Christen, Anne Gregor, Rodrigo Gutierrez-Quintana, Jos Bongers, Angie Rupp, Jacques Penderis, G. Diane Shelton, Vidhya Jagannathan, Christiane Zweier, Tosso Leeb
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels. Brain MRI showed characteristic bilateral symmetrical T2
Externí odkaz:
https://doaj.org/article/f2308b3ba95b4cfeba689d785e3d4ca7
Autor:
Cosima M. Schmid, Anne Gregor, Gregory Costain, Chantal F. Morel, Lauren Massingham, Jennifer Schwab, Chloé Quélin, Marie Faoucher, Julie Kaplan, Rebecca Procopio, Carol J. Saunders, Ana S.A. Cohen, Gabrielle Lemire, Stephanie Sacharow, Anne O’Donnell-Luria, Ranit Jaron Segal, Jessica Kianmahd Shamshoni, Daniela Schweitzer, Darius Ebrahimi-Fakhari, Kristin Monaghan, Timothy Blake Palculict, Melanie P. Napier, Alice Tao, Bertrand Isidor, Kamran Moradkhani, André Reis, Heinrich Sticht, Wendy K. Chung, Christiane Zweier
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2023, 25 (7), pp.100839. ⟨10.1016/j.gim.2023.100839⟩
Genetics in Medicine, 2023, 25 (7), pp.100839. ⟨10.1016/j.gim.2023.100839⟩
PURPOSE LHX2 encodes the LIM homeobox 2 transcription factor (LHX2), which is highly expressed in brain and well conserved across species, but has not been clearly linked to neurodevelopmental disorders (NDD) to date. METHODS Through international co
Autor:
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B. Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delphine Heron, Cyril Mignot, Boris Keren, Susan Brooks, Christina Botti, Bruria Ben-Zeev, Emanuela Argilli, Elliot H. Sherr, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Somayeh Bakhtiari, Michael C. Kruer, Mustafa A. Salih, Alma Kuechler, Eric A. Muller, Karli Blocker, Outi Kuismin, Kristen L. Park, Aaina Kochhar, Kathleen Brown, Subhadra Ramanathan, Robin Dawn Clark, Magdeldin Elgizouli, Gia Melikishvili, Nazhi Tabatadze, Zornitza Stark, Ghayda M. Mirzaa, Jinfon Ong, Ute Grasshoff, Andrea Bevot, Lydia von Wintzingerode, Rami Abou Jamra, Yvonne Hennig, Paula Goldenberg, Chadi Al Alam, Majida Charif, Redouane Boulouiz, Mohammed Bellaoui, Rim Amrani, Fuad Al Mutairi, Abdullah M. Tamim, Firdous Abdulwahab, Fowzan S. Alkuraya, Ebtissal Mohammad Khouj, Javeria Raza Alvi, Tipu Sulta, Narges Hashemi, Ehsan Ghayoor Karimiani, Farah Ashrafzadeh, Shima Imannezhad, Stephanie Efthymiou, Henry Houlden, Heinrich Sticht, Christiane Zweier
Publikováno v:
Genetics in Medicine. :100885
PURPOSE Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy (DEE) with early-onset seizures and severe intellectual disability. METHODS By international collaboration we assembled indivi
Autor:
Christiane Zweier, Anne Gregor, Caroline Maxton, Tatiana Cherevatova, Nicola Foulds, Arjan Bouman, John A. Bernat, Hannah Bombei, Heinrich Sticht, Sarah Schuhmann, Sixto García-Miñaur, Liudmila Bessonova, Tobias B. Haack, Lyusya Melikyan, A. A. Sharkov, Marta Pacio-Míguez, Sabine Hoffjan, Fernando Santos-Simarro, Georgia Vasileiou, Petra Stöbe, María Palomares-Bralo, Mandy Krumbiegel, Natasha J Brown, Moritz Hebebrand, Bernt Popp, Karen Stals, Alma Kuechler, Ruth Falb, Marwan Shinawi, Thorsten Gerstner, Johannes R. Lemke, Eva M. C. Schwaibold, Usha Kini, N. V. Shcherbakova, André Reis, Marta Bertoli, Jasmin Beygo, Peter Sparber, Sally Ann Lynch, Tanja Meerbrei, Tabib Dabir, David Hunt, Annick Toutain
Publikováno v:
Human Molecular Genetics
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Recently, others and we identified de novo FBXO11 (F-Box only protein 11) variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical and mutational information on 23 additional individuals. The phenotypic spectr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84e1c36b221ba0f786e0d35fa0e1ac8f
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85124433708
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85124433708
Autor:
M. Makenzie Beaman, Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Marie McDonald, Courtney Jensen, Sangmoon Lee, Maha Zaki, Amira Masri, Joseph Gleeson, Jennifer L. Cohen
Publikováno v:
Genetics in Medicine. 24:S53-S54
Autor:
Denice Belandres, Hüseyin Per, Noam Shomron, Ayşe Kaçar Bayram, Ahmet Okay Caglayan, Jennifer L. Silhavy, Daphna Weissglas-Volkov, Murat Gunel, Stacey Gabriel, Katsuhito Yasuno, Yaron Einhorn, Gali Heimer, Jana Schroth, Valentina Stanley, Nir Pillar, Steven M. Lewis, Bruria Ben-Zeev, Brett Copeland, Joseph G. Gleeson, Sefer Kumandaş, Jennifer McEvoy-Venneri, Yuval Porat, Anne Gregor, Rasim Ozgur Rosti, Hakan Gümüş, Naiara Akizu, Emine Z. Erson-Omay, Gozde Tugce Akgumus, Maha S. Zaki, Rebecca Fang, Alicia Guemez-Gamboa, Mahmoud Y. Issa, Kaya Bilguvar, Sahar N. Saleem, Damir Musaev
Publikováno v:
Annals of Neurology. 84:638-647
Objective To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome. Methods Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radio
Autor:
Lluis Quintana-Murci, Etienne Patin, Jean-Laurent Casanova, Laurent Abel, Anne Puel, Jérémie Rosain, Shen-Ying Zhang, Vivien Béziat, Joseph G. Gleeson, Anne Gregor, Emmanuelle Jouanguy, Franck Rapaport, Stéphanie Boisson-Dupuis, Qian Zhang, Bertrand Boisson, Jacinta Bustamante
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
Proc Natl Acad Sci U S A
International audience; Genetic variants underlying life-threatening diseases, being unlikely to be transmitted to the next generation, are gradually and selectively eliminated from the population through negative selection. We study the determinants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::332643eea3ed76761b7b3dd8b898b419
https://hal.archives-ouvertes.fr/hal-03372676
https://hal.archives-ouvertes.fr/hal-03372676
Autor:
Charu Deshpande, Joke B. G. M. Verheij, H Van Bokhoven, Siddharth Banka, J. S. Klein Wassink-Ruiter, Elizabeth J. Bhoj, S. C. Huffels, R. Pfundt, Ernie M.H.F. Bongers, Anne Gregor, A.P.M. de Brouwer, André Reis, Christiane Zweier, Hakon Hakonarson, Nicola K. Ragge, L. Gompertz, Dong Li, Sanmati Cuddapah, Alexander P.A. Stegmann, Sally Ann Lynch, A.T. Vulto-van Silfhout, Willie Reardon, Gyri Aasland Gradek, Daniel L. Polla, Kate Chandler, C. T. R. M. Stumpel, B. B. A. de Vries, R. Wennekes, Elaine H. Zackai, Siren Berland, Erika Leenders, K. Hill-Karfe
Publikováno v:
Genetics in Medicine, 23, 4, pp. 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Contains fulltext : 234992.pdf (Publisher’s version ) (Closed access) PURPOSE: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differenti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3096973d0dab91ba75f31747c1525309
https://repository.ubn.ru.nl/handle/2066/234992
https://repository.ubn.ru.nl/handle/2066/234992
Autor:
Grace J. Noh, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Lisa Ohden, Joshua L. Deignan, Jane Juusola, Naghmeh Dorrani, Katherine Agre, Anne Gregor, Vidya Krishnamurthy, Arif B. Ekici, Julian A. Martinez-Agosto, Vimla Aggarwal, T. Niroshi Senaratne, Seema R. Lalani, Antje Wiesener, Stella A. de Man, Mahshid S. Azamian, Marina S. Dutra-Clarke, Jill A. Rosenfeld, Ahna M. Neustadt, Daryl A. Scott, Brent L. Fogel, Stanley F. Nelson, Ghayda M. Mirzaa, Irma van de Beek, Kirsty McWalter, Wayne W. Grody, Rachel Straussberg, Ralitza H. Gavrilova, Hane Lee, Anna Fliedner, Quinten Waisfisz, Mieke M. van Haelst, Jessica Kianmahd, Fabiola Quintero-Rivera, Marina Dutra-Clarke, Rony Cohen, Laura Davis-Keppen, Anna Alkelai, Christiane Zweier, Fan Xia, Brooke Horist, Philipp Kirchner, Sung-Hae Kang, Franceska L. Hinkamp, Natalie Lippa, Valerie A. Arboleda
Publikováno v:
Fliedner, A, Kirchner, P, Wiesener, A, van de Beek, I, Waisfisz, Q, van Haelst, M, Scott, D A, Lalani, S R, Rosenfeld, J A, Azamian, M S, Xia, F, Dutra-Clarke, M, Martinez-Agosto, J A, Lee, H, Noh, G J, Lippa, N, Alkelai, A, Aggarwal, V, Agre, K E, Gavrilova, R, Mirzaa, G M, Straussberg, R, Cohen, R, Horist, B, Krishnamurthy, V, McWalter, K, Juusola, J, Davis-Keppen, L, Ohden, L, van Slegtenhorst, M, de Man, S A, Ekici, A B, Gregor, A, van de Laar, I, Zweier, C & UCLA Clinical Genomics Center 2020, ' Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing ', American journal of human genetics, vol. 107, no. 3, pp. 544-554 . https://doi.org/10.1016/j.ajhg.2020.06.019
American journal of human genetics, 107(3), 544-554. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107(3), 544-554. Cell Press
American journal of human genetics, 107(3), 544-554. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107(3), 544-554. Cell Press
RNA polymerase II interacts with various other complexes and factors to ensure correct initiation, elongation, and termination of mRNA transcription. One of these proteins is SR-related CTD-associated factor 4 (SCAF4), which is important for correct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9417770654c6a8fcc91fcdc725972c10
https://research.vumc.nl/en/publications/f7f8dc41-7e52-465b-b68c-c1218ff2d478
https://research.vumc.nl/en/publications/f7f8dc41-7e52-465b-b68c-c1218ff2d478
Autor:
Jörg C. Prinz, Florina Kersting, Markus H. Hoffmann, Peter Schulz, Sabine Löhr, Jonas Hahn, Ulrike Hüffmeier, Christine Schauer, Gunter Aßmann, Anne Gregor, André Reis, Abdelaziz Sefiani, Arif B. Ekici, Sandra Philipp, Claudia Riepe, Wiebke Sondermann, Georg Schett, Madelaine Hahn, Knut Schäkel, Mark Ringer, Michael Sticherling, Silke Frey, Maximilien Euler, Christian Thiel, Jaber Lyahyai, Steffen Uebe, Heinrich Sticht, Stefan Haskamp, Dagmar Wilsmann-Theis, Cindy Flamann, Adam Lesner, Rotraut Mößner, Heiko Bruns, Vinzenz Oji, Stephan von Hörsten, Benjamin Frey
Publikováno v:
American Journal of Human Genetics
Generalized pustular psoriasis (GPP) is a severe multi-systemic inflammatory disease characterized by neutrophilic pustulosis and triggered by pro-inflammatory IL-36 cytokines in skin. While 19%–41% of affected individuals harbor bi-allelic mutatio