Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

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 translation of nascent polypeptides within the ribosome-bound TMCO1 translocon c...

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Detalles Bibliográficos
Autores principales: Thomas, Quentin, Motta, Marialetizia, Gautier, Thierry, Zaki, Maha S., Ciolfi, Andrea, Paccaud, Julien, Girodon, François, Boespflug-Tanguy, Odile, Besnard, Thomas, Kerkhof, Jennifer, McConkey, Haley, Masson, Aymeric, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Trochu, Eva, Vignard, Virginie, El It, Fatima, Rodan, Lance H., Alkhateeb, Mohammad Ayman, Jamra, Rami Abou, Duplomb, Laurence, Tisserant, Emilie, Duffourd, Yannis, Bruel, Ange-Line, Jackson, Adam, Banka, Siddharth, McEntagart, Meriel, Saggar, Anand, Gleeson, Joseph G., Sievert, David, Bae, Hyunwoo, Lee, Beom Hee, Kwon, Kisang, Seo, Go Hun, Lee, Hane, Saeed, Anjum, Anjum, Nadeem, Cheema, Huma, Alawbathani, Salem, Khan, Imran, Pinto-Basto, Jorge, Teoh, Joyce, Wong, Jasmine, Sahari, Umar Bin Mohamad, Houlden, Henry, Zhelcheska, Kristina, Pannetier, Melanie, Awad, Mona A., Lesieur-Sebellin, Marion, Barcia, Giulia, Amiel, Jeanne, Delanne, Julian, Philippe, Christophe, Faivre, Laurence, Odent, Sylvie, Bertoli-Avella, Aida, Thauvin, Christel, Sadikovic, Bekim, Reversade, Bruno, Maroofian, Reza, Govin, Jérôme, Tartaglia, Marco, Vitobello, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606387/
https://www.ncbi.nlm.nih.gov/pubmed/36044892
http://dx.doi.org/10.1016/j.ajhg.2022.08.008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606387/
https://www.ncbi.nlm.nih.gov/pubmed/36044892
http://dx.doi.org/10.1016/j.ajhg.2022.08.008

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