Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Xenia Latypova"'
Autor:
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively expressed in neurons. Densin-180 is a posts
Externí odkaz:
https://doaj.org/article/fa7e561bde0647a3a38569265135f1c2
Autor:
Laura J. Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xenia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie L. Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á. Martos-Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Alexander P. A. Stegmann, Masato Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T.R.M. Stumpel, Alexander M. R. Taylor, Andrew P. Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E. Davis, Grant S. Stewart
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
The SMC5/6 complex is critical for genome stability. Here, the authors identify mutations in SLF2 and SMC5 as cause of Atelís Syndrome characterized by microcephaly, short stature, anemia, segmented chromosomes and mosaic variegated hyperploidy.
Externí odkaz:
https://doaj.org/article/bfe3845b80824c5996d10d21e1575e9d
Autor:
Valérie Bonneau, Mathilde Nizon, Xenia Latypova, Aurélie Gaultier, Eugénie Hoarau, Stéphane Bézieau, Guy Minguet, Mauro Turrini, Maud Jourdain, Bertrand Isidor
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Until very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general population a risk for a
Externí odkaz:
https://doaj.org/article/8023581a5b634ed189455d2f890beb5e
Autor:
Noémi Dahan-Oliel, Klaus Dieterich, Frank Rauch, Ghalib Bardai, Taylor N. Blondell, Anxhela Gjyshi Gustafson, Reggie Hamdy, Xenia Latypova, Kamran Shazand, Philip F. Giampietro, Harold van Bosse
Publikováno v:
Genes, Vol 12, Iss 8, p 1220 (2021)
Background: Multiple pterygium syndrome (MPS) is a genetically heterogeneous rare form of arthrogryposis multiplex congenita characterized by joint contractures and webbing or pterygia, as well as distinctive facial features related to diminished fet
Externí odkaz:
https://doaj.org/article/50605aca30f04372b843e6f9f73fb44e
Autor:
Xenia Latypova, Stefan Giovanni Creadore, Noémi Dahan-Oliel, Anxhela Gjyshi Gustafson, Steven Wei-Hung Hwang, Tanya Bedard, Kamran Shazand, Harold J. P. van Bosse, Philip F. Giampietro, Klaus Dieterich
Publikováno v:
Genes, Vol 12, Iss 7, p 1052 (2021)
Arthrogryposis multiplex congenita (AMC) describes a group of conditions characterized by the presence of non-progressive congenital contractures in multiple body areas. Scoliosis, defined as a coronal plane spine curvature of ≥10 degrees as measur
Externí odkaz:
https://doaj.org/article/815ac05c80874d4b99cfac7063364e95
Autor:
Ayaz Khan, Shixiong Tian, Muhammad Tariq, Sheraz Khan, Muhammad Safeer, Naimat Ullah, Nazia Akbar, Iram Javed, Mahnoor Asif, Ilyas Ahmad, Shahid Ullah, Humayoon Shafique Satti, Raees Khan, Muhammad Naeem, Mahwish Ali, John Rendu, Julien Fauré, Klaus Dieterich, Xenia Latypova, Shahid Mahmood Baig, Naveed Altaf Malik, Feng Zhang, Tahir Naeem Khan, Chunyu Liu
Publikováno v:
Molecular Genetics and Genomics. 297:1601-1613
Hereditary neurological disorders (HNDs) are a clinically and genetically heterogeneous group of disorders. These disorders arise from the impaired function of the central or peripheral nervous system due to aberrant electrical impulses. More than 60
Autor:
Pauline Le Tanno, Xenia Latypova, John Rendu, Julien Fauré, Véronique Bourg, Marjolaine Gauthier, Gipsy Billy-Lopez, Pierre-Simon Jouk, Klaus Dieterich
Publikováno v:
Journal of Medical Genetics. 60:13-24
IntroductionArthrogryposis multiplex congenita (AMC) refers to a clinical presentation of congenital contractures involving two or more body areas. More than 400 distinct conditions may lead to AMC, making the aetiological diagnosis challenging. The
Publikováno v:
European journal of medical genetics. 65(11)
Preconception genetic testing is carried out to inform couples on their carrier status for recessive or X-linked genetic disease, and aims to extend their possible reproductive choices. These genetic tests are available in several countries and are c
Autor:
Philip F Giampietro, Harold J.P. van Bosse, Stefan Giovanni Creadore, Steven W. Hwang, Noémi Dahan-Oliel, Tanya Bedard, Kamran Shazand, Klaus Dieterich, Xenia Latypova, Anxhela Gjyshi Gustafson
Publikováno v:
Genes
Volume 12
Issue 7
Genes, Vol 12, Iss 1052, p 1052 (2021)
Volume 12
Issue 7
Genes, Vol 12, Iss 1052, p 1052 (2021)
Arthrogryposis multiplex congenita (AMC) describes a group of conditions characterized by the presence of non-progressive congenital contractures in multiple body areas. Scoliosis, defined as a coronal plane spine curvature of ≥10 degrees as measur
Autor:
Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3
Contains fulltext : 202928.pdf (Publisher’s version ) (Open Access) Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone