Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Richard H van Jaarsveld"'
Autor:
Elizabeth A. Werren, Emily R. Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K. L. I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun A. Rappold, Rachel Rabin, John G. Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie L. Bielas
Publikováno v:
Cell Death and Disease, Vol 15, Iss 5, Pp 1-15 (2024)
Abstract CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functions o
Externí odkaz:
https://doaj.org/article/08dbba4aad0f4fdba2b94ba2c9076513
Autor:
Anthony J. Asmar, Shaun R. Abrams, Jenny Hsin, Jason C. Collins, Rita M. Yazejian, Youmei Wu, Jean Cho, Andrew D. Doyle, Samhitha Cinthala, Marleen Simon, Richard H. van Jaarsveld, David B. Beck, Laura Kerosuo, Achim Werner
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract The molecular mechanisms that coordinate patterning of the embryonic ectoderm into spatially distinct lineages to form the nervous system, epidermis, and neural crest-derived craniofacial structures are unclear. Here, biochemical disease-var
Externí odkaz:
https://doaj.org/article/3f2a910eb8564c0e87eee9613f5e8c06
Autor:
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Sidharth Banka, Bekim Sadikovic, Jill A. Fahrner
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
Abstract TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylation
Externí odkaz:
https://doaj.org/article/b671baf57f4d42619acfe5843fbbb345
Autor:
Andres Ramirez-Martinez, Yichi Zhang, Marie-Jose van den Boogaard, John R. McAnally, Cristina Rodriguez-Caycedo, Andreas C. Chai, Francesco Chemello, Maarten P.G. Massink, Inge Cuppen, Martin G. Elferink, Robert J.J. van Es, Nard G. Janssen, Linda P.A.M. Walraven-van Oijen, Ning Liu, Rhonda Bassel-Duby, Richard H. van Jaarsveld, Eric N. Olson
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 11 (2022)
Skeletal muscle fibers contain hundreds of nuclei, which increase the overall transcriptional activity of the tissue and perform specialized functions. Multinucleation occurs through myoblast fusion, mediated by the muscle fusogens Myomaker (MYMK) an
Externí odkaz:
https://doaj.org/article/02c0f12272764eacacedd89bd47117d6
Autor:
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.Cullen, Shinji Saitoh, Kohji Kato
Publikováno v:
Journal of Medical Genetics. 60:359-367
PurposeThe Retriever subunitVPS35Lis the third responsible gene for Ritscher-Schinzel syndrome (RSS) afterWASHC5andCCDC22. To date, only one pair of siblings have been reported and their condition was significantly more severe than typical RSS. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a103af248072009599c3a071f407cb0
https://doi.org/10.1136/jmg-2022-108602
https://doi.org/10.1136/jmg-2022-108602
Autor:
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A. Fahrner
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/9827b109ef8940f7bf82494873e7341a
Autor:
Beau D. E. Janssen, Marie‐Jose H. van den Boogaard, Klaske Lichtenbelt, Eleanor G. Seaby, Karen Stals, Sian Ellard, Ruth Newbury‐Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V. Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J. Holwerda, Koen van Gassen, Richard H. van Jaarsveld
Publikováno v:
Human Mutation. 43:1844-1851
TATA-binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d693dc401797f12590f81953365c5f3
https://doi.org/10.1002/humu.24444
https://doi.org/10.1002/humu.24444
Autor:
Eleanor G. Seaby, Damian Smedley, Ana Lisa Taylor Tavares, Helen Brittain, Richard H. van Jaarsveld, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria, Sarah Ennis
Publikováno v:
Genetics in Medicine. 24:1697-1707
PurposeExome and genome sequencing have drastically accelerated novel disease gene discoveries. However, discovery is still hindered by myriad variants of uncertain significance found in genes of undetermined biological function. This necessitates in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd63d2968f40c6f9c34746776cefa97b
https://doi.org/10.1016/j.gim.2022.04.019
https://doi.org/10.1016/j.gim.2022.04.019
Autor:
Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann, Richard H. van Jaarsveld, Koen L. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker-Touw, Sjoerd J.B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa A. Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch-Andersen, Wallid Deb, Thomas Besnard, Marleen E.H. Simon, Karin Huijsdens-van Amsterdam, Nienke E. Verbeek, Dena Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koen Devriendt, Anneleen Boogaerts, Marjolein Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. De Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cusco, Eulàlia Rovira-Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frederic Tran-Mau-Them, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Christophe Philippe, Stéphane Bezieau, Benjamin Cogné
Publikováno v:
Genetics in Medicine, 24, 1774-1780
Genetics in Medicine, 24(8), 1774-1780. Nature Publishing Group
Genetics in Medicine, 24, 8, pp. 1774-1780
Genetics in Medicine, 24(8), 1774-1780. Nature Publishing Group
Genetics in Medicine, 24, 8, pp. 1774-1780
Contains fulltext : 282702.pdf (Publisher’s version ) (Open Access) PURPOSE: SRRM2 encodes the SRm300 protein, a splicing factor of the SR-related protein family characterized by its serine- and arginine-enriched domains. It promotes interactions b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e95cf12828dc068fc5819781909f023b
https://doi.org/10.1016/j.gim.2022.04.011
https://doi.org/10.1016/j.gim.2022.04.011
Autor:
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
Publikováno v:
Science Translational Medicine, 15(698):eabo3189. American Association for the Advancement of Science
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which are req
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f08541291a7d8417d62644c4db9e51a
https://doi.org/10.1126/scitranslmed.abo3189
https://doi.org/10.1126/scitranslmed.abo3189