Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Fatima El It"'
Autor:
Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jérôme Govin, Bart Dermaut, Antonio Vitobello
Publikováno v:
AMERICAN JOURNAL OF HUMAN GENETICS
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5551e236309b7081069f46ca7428ec
https://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMM
https://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMM
Autor:
Quentin Thomas, Marialetizia Motta, Thierry Gautier, Maha S. Zaki, Andrea Ciolfi, Julien Paccaud, François Girodon, Odile Boespflug-Tanguy, Thomas Besnard, Jennifer Kerkhof, Haley McConkey, Aymeric Masson, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Eva Trochu, Virginie Vignard, Fatima El It, Lance H. Rodan, Mohammad Ayman Alkhateeb, Rami Abou Jamra, Laurence Duplomb, Emilie Tisserant, Yannis Duffourd, Ange-Line Bruel, Adam Jackson, Siddharth Banka, Meriel McEntagart, Anand Saggar, Joseph G. Gleeson, David Sievert, Hyunwoo Bae, Beom Hee Lee, Kisang Kwon, Go Hun Seo, Hane Lee, Anjum Saeed, Nadeem Anjum, Huma Cheema, Salem Alawbathani, Imran Khan, Jorge Pinto-Basto, Joyce Teoh, Jasmine Wong, Umar Bin Mohamad Sahari, Henry Houlden, Kristina Zhelcheska, Melanie Pannetier, Mona A. Awad, Marion Lesieur-Sebellin, Giulia Barcia, Jeanne Amiel, Julian Delanne, Christophe Philippe, Laurence Faivre, Sylvie Odent, Aida Bertoli-Avella, Christel Thauvin, Bekim Sadikovic, Bruno Reversade, Reza Maroofian, Jérôme Govin, Marco Tartaglia, Antonio Vitobello
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.08.008⟩
Thomas, Q, Motta, M, Gautier, T, Zaki, M S, Ciolfi, A, Paccaud, J, Girodon, F, Boespflug-Tanguy, O, Besnard, T, Kerkhof, J, McConkey, H, Masson, A, Denommé-Pichon, A-S, Cogné, B, Trochu, E, Vignard, V, El It, F, Rodan, L H, Alkhateeb, M A, Jamra, R A, Duplomb, L, Tisserant, E, Duffourd, Y, Bruel, A-L, Jackson, A, Banka, S, McEntagart, M, Saggar, A, Gleeson, J G, Sievert, D, Bae, H, Lee, B H, Kwon, K, Seo, G H, Lee, H, Saeed, A, Anjum, N, Cheema, H, Alawbathani, S, Pinto-Basto, J, Teoh, J, Wong, J, Sahari, U B M, Houlden, H, Zhelcheska, K, Pannetier, M, Awad, M A, Lesieur-Sebellin, M, Barcia, G, Amiel, J, Delanne, J, Philippe, C, Faivre, L, Odent, S, Bertoli-Avella, A, Thauvin, C, Sadikovic, B, Reversade, B, Maroofian, R, Govin, J, Tartaglia, M & Vitobello, A 2022, ' Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly ', American Journal of Human Genetics, vol. 109, no. 10, pp. 1909-1922 . https://doi.org/10.1016/j.ajhg.2022.08.008
The American Journal of Human Genetics
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.08.008⟩
Thomas, Q, Motta, M, Gautier, T, Zaki, M S, Ciolfi, A, Paccaud, J, Girodon, F, Boespflug-Tanguy, O, Besnard, T, Kerkhof, J, McConkey, H, Masson, A, Denommé-Pichon, A-S, Cogné, B, Trochu, E, Vignard, V, El It, F, Rodan, L H, Alkhateeb, M A, Jamra, R A, Duplomb, L, Tisserant, E, Duffourd, Y, Bruel, A-L, Jackson, A, Banka, S, McEntagart, M, Saggar, A, Gleeson, J G, Sievert, D, Bae, H, Lee, B H, Kwon, K, Seo, G H, Lee, H, Saeed, A, Anjum, N, Cheema, H, Alawbathani, S, Pinto-Basto, J, Teoh, J, Wong, J, Sahari, U B M, Houlden, H, Zhelcheska, K, Pannetier, M, Awad, M A, Lesieur-Sebellin, M, Barcia, G, Amiel, J, Delanne, J, Philippe, C, Faivre, L, Odent, S, Bertoli-Avella, A, Thauvin, C, Sadikovic, B, Reversade, B, Maroofian, R, Govin, J, Tartaglia, M & Vitobello, A 2022, ' Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly ', American Journal of Human Genetics, vol. 109, no. 10, pp. 1909-1922 . https://doi.org/10.1016/j.ajhg.2022.08.008
The American Journal of Human Genetics
International audience; The transmembrane protein TMEM147 has a dual function: first at the nuclear envelope, where it anchors lamin B receptor (LBR) to the inner membrane, and second at the endoplasmic reticulum (ER), where it facilitates the transl