المؤلفون: Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Keung Lam, Wayne Wing, van den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez-Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Víctor, Devriendt, Koen, Pasquier, Laurent, Pérez-Jurado, Luis

المساهمون: Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Centre de référence Maladies Rares CLAD-Ouest Rennes, Universidad Autónoma de Madrid (UAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Department of Microbiology, Immunology and Transplantation Leuven, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven Leuven, Laboratoire National de Santé Luxembourg (LNS), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut du Thorax Nantes, Antwerp University Hospital Edegem (UZA), Centre Hospitalier de Luxembourg Luxembourg (CHL), Geroscience and rejuvenation research center (RESTORE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Microenvironment and B-cells: Immunopathology,Cell Differentiation, and Cancer (MOBIDIC), Université de Rennes (UR)-Etablissement français du sang Rennes (EFS Bretagne)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Universitat Pompeu Fabra Barcelona (UPF), Research reported in this publication was supported by the CatalonianDepartment of Health (URDCAT: Grant SLT002/16/00174) and the ENoD Programme of CIBERER(ER16P08), Instituto de Salud Carlos III. Selket Delafontaine is supported by the personal FWO Grant11F4421N. Isabelle Meyts is a Senior Clinical Investigator at the Research Foundation – Flanders, andis supported by the CSL Behring Chair of Primary Immunodeficiencies, by the KU Leuven C1 GrantC16/18/007, by a VIB GC PID Grant, by the FWO Grants G0C8517N, G0B5120N and G0E8420N and bythe Jeffrey Modell Foundation. Part of this work was supported by a grant from the Spanish Ministryof Science and Innovation (PID2019-105620RB-I00/AEI/10.13039/501100011033). The project hasalso received funding from the European Research Council (ERC) under the European Union’s Horizon2020 research and innovation programme (grant agreement No. 948959). This work is supported byERN-RITA.LAPJ is founding partner and scientific advisor of qGenomics Laboratories. The remaining authorsdeclare no potential conflict of interest.

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2, FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome, FRA-2, MESH: Humans, MESH: Scalp, MESH: Autism Spectrum Disorder, MESH: HEK293 Cells, MESH: Transcription Factor AP-1, MESH: Exons, MESH: Ectodermal Dysplasia, MESH: Neurodevelopmental Disorders, MESH: RNA, Messenger, MESH: Fos-Related Antigen-2, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36197437; hal-03954791; https://univ-rennes.hal.science/hal-03954791Test; https://univ-rennes.hal.science/hal-03954791/documentTest; https://univ-rennes.hal.science/hal-03954791/file/Cospain%20et%20al%20-%202022%20-%20FOSL2%20truncating%20variants%20in%20the%20last%20exon.pdfTest; PUBMED: 36197437

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.002Test
https://univ-rennes.hal.science/hal-03954791Test
https://univ-rennes.hal.science/hal-03954791/documentTest
https://univ-rennes.hal.science/hal-03954791/file/Cospain%20et%20al%20-%202022%20-%20FOSL2%20truncating%20variants%20in%20the%20last%20exon.pdfTest

المؤلفون: Cospain, A., Rivera-Barahona, A., Dumontet, E., Gener, B., Bailleul-Forestier, I., Meyts, I., Jouret, G., Isidor, B., Brewer, C., Wuyts, W., Moens, L., Delafontaine, S., Keung Lam, W. W., Van Den Bogaert, K., Boogaerts, A., Scalais, E., Besnard, T., Cogne, B., Guissard, C., Rollier, P., Carre, W., Bouvet, R., Tarte, K., Gómez-Carmona, R., Lapunzina, P., Odent, S., Faoucher, M., Dubourg, C., Ruiz-Pérez, V. L., Devriendt, K., Pasquier, L., Pérez-Jurado, L. A.

مصطلحات موضوعية: Humans, Scalp/abnormalities/metabolism, Autism Spectrum Disorder/genetics, HEK293 Cells, Transcription Factor AP-1/genetics, Exons/genetics, Ectodermal Dysplasia/genetics, Neurodevelopmental Disorders/genetics, RNA, Messenger, Fos-Related Antigen-2/genetics, AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2, qGenomics Laboratories

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00937-6; Genet Med. 2022 Dec;24(12):2475-2486. doi:10.1016/j.gim.2022.09.002. Epub 2022 Oct 4.; https://rde.dspace-express.com/handle/11287/622737Test; Genetics in medicine

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.002Test
https://rde.dspace-express.com/handle/11287/622737Test

المؤلفون: Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier, Isabelle Meyts, Guillaume Jouret, Bertrand Isidor, Carole Brewer, Wim Wuyts, Leen Moens, Selket Delafontaine, Wayne Wing Keung Lam, Kris Van Den Bogaert, Anneleen Boogaerts, Emmanuel Scalais, Thomas Besnard, Benjamin Cogne, Christophe Guissard, Paul Rollier, Wilfrid Carre, Regis Bouvet, Karin Tarte, Ricardo Gómez-Carmona, Pablo Lapunzina, Sylvie Odent, Marie Faoucher, Christele Dubourg, Víctor L. Ruiz-Pérez, Koen Devriendt, Laurent Pasquier, Luis A. Pérez-Jurado

المساهمون: Generalitat de Catalunya, CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Universidad Autónoma de Madrid (UAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Department of Microbiology, Immunology and Transplantation [Leuven], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven [Leuven], Laboratoire National de Santé [Luxembourg] (LNS), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut du Thorax [Nantes], Antwerp University Hospital [Edegem] (UZA), Centre Hospitalier de Luxembourg [Luxembourg] (CHL), Geroscience and rejuvenation research center (RESTORE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Microenvironment and B-cells: Immunopathology,Cell Differentiation, and Cancer (MOBIDIC), Université de Rennes (UR)-Etablissement français du sang [Rennes] (EFS Bretagne)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Universitat Pompeu Fabra [Barcelona] (UPF), Research reported in this publication was supported by the CatalonianDepartment of Health (URDCAT: Grant SLT002/16/00174) and the ENoD Programme of CIBERER(ER16P08), Instituto de Salud Carlos III. Selket Delafontaine is supported by the personal FWO Grant11F4421N. Isabelle Meyts is a Senior Clinical Investigator at the Research Foundation – Flanders, andis supported by the CSL Behring Chair of Primary Immunodeficiencies, by the KU Leuven C1 GrantC16/18/007, by a VIB GC PID Grant, by the FWO Grants G0C8517N, G0B5120N and G0E8420N and bythe Jeffrey Modell Foundation. Part of this work was supported by a grant from the Spanish Ministryof Science and Innovation (PID2019-105620RB-I00/AEI/10.13039/501100011033). The project hasalso received funding from the European Research Council (ERC) under the European Union’s Horizon2020 research and innovation programme (grant agreement No. 948959). This work is supported byERN-RITA.LAPJ is founding partner and scientific advisor of qGenomics Laboratories. The remaining authorsdeclare no potential conflict of interest.

المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (12), pp.2475-2486. ⟨10.1016/j.gim.2022.09.002⟩
Genetics in medicine

مصطلحات موضوعية: FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome, Autism Spectrum Disorder, MESH: Fos-Related Antigen-2, FOSL2, Fos-Related Antigen-2, MESH: Scalp, Adams-Oliver syndrome, Ectodermal Dysplasia, AP-1 complex, Humans, RNA, Messenger, Genetics (clinical), FRA-2, MESH: Neurodevelopmental Disorders, MESH: RNA, Messenger, enamel hypoplasia, MESH: Autism Spectrum Disorder, MESH: Humans, MESH: Ectodermal Dysplasia, Scalp, Exons, MESH: Transcription Factor AP-1, Transcription Factor AP-1, aplasia cutis congenita of scalp, HEK293 Cells, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, MESH: HEK293 Cells, Human medicine, MESH: Exons

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9c2cb95f13c2d762c5435721f9e969Test
https://pubmed.ncbi.nlm.nih.gov/36197437Test