المؤلفون: Thomas, Sophie, Wright, Kevin, Corre, Stéphanie Le, Micalizzi, Alessia, Romani, Marta, Abhyankar, Avinash, Saada, Julien, Perrault, Isabelle, Amiel, Jeanne, Litzler, Julie, Filhol, Emilie, Elkhartoufi, Nadia, Kwong, Mandy, Casanova, Jean-Laurent, Boddaert, Nathalie, Baehr, Wolfgang, Lyonnet, Stanislas, Munnich, Arnold, Burglen, Lydie, Chassaing, Nicolas, Encha-Ravazi, Ferechté, Vekemans, Michel, Gleeson, Joseph, Valente, Enza Maria, Jackson, Peter, Drummond, Iain, Saunier, Sophie, Attié-Bitach, Tania

المساهمون: Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Genentech, Inc., Genentech, Inc. San Francisco, Massachusetts General Hospital Boston, Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo (IRCCS), Università degli Studi di Messina = University of Messina (UniMe), Rockefeller University New York, AP-HP - Hôpital Antoine Béclère Clamart, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Hôpital Necker - Enfants Malades AP-HP, Génétique Humaine des Maladies Infectieuses (Inserm U980), Service de radiologie pédiatrique CHU Necker, University of Utah, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Howard Hughes Medical Institute (HHMI), University of California San Diego (UC San Diego), University of California (UC), Harvard Medical School Boston (HMS)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: Joubert syndrome, primary cilia, PDE6D, INPP5E, prenylation, MESH: ADP-Ribosylation Factors / metabolism, MESH: Abnormalities, Multiple, MESH: Retina / abnormalities, MESH: Retina / metabolism, MESH: Eye Abnormalities / genetics, MESH: Sequence Analysis, DNA, MESH: Zebrafish / abnormalities, MESH: Zebrafish / genetics, MESH: Cerebellar Diseases / genetics, MESH: Zebrafish Proteins / genetics, MESH: Zebrafish Proteins / metabolism, MESH: Cerebellar Diseases / metabolism, MESH: Male, MESH: Cerebellum / abnormalities, MESH: Cilia / metabolism, MESH: Cyclic Nucleotide Phosphodiesterases, Type 6 / genetics, MESH: Eye Abnormalities / metabolism, Type 6 / metabolism, MESH: Exome, MESH: Female, MESH: Genetic Predisposition to Disease, MESH: Homozygote

Relation: info:eu-repo/semantics/altIdentifier/pmid/24166846; PUBMED: 24166846; PUBMEDCENTRAL: PMC3946372

الاتاحة: https://ut3-toulouseinp.hal.science/hal-03240698
https://doi.org/10.1002/humu.22470

المؤلفون: Tania Attié-Bitach, Sophie Saunier, Mandy Kwong, Nadia Elkhartoufi, Enza Maria Valente, Isabelle Perrault, Joseph G. Gleeson, Alessia Micalizzi, Stéphanie Le Corre, Marta Romani, Julie Litzler, Lydie Burglen, Iain A. Drummond, Kevin J. Wright, Avinash Abhyankar, Julien Saada, Jean-Laurent Casanova, Stanislas Lyonnet, Nathalie Boddaert, Nicolas Chassaing, Arnold Munnich, Jeanne Amiel, Peter K. Jackson, Emilie Filhol, Michel Vekemans, Ferechté Encha-Ravazi, Wolfgang Baehr, Sophie Thomas

المساهمون: Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Genentech, Inc., Genentech, Inc. [San Francisco], Massachusetts General Hospital [Boston], Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Universita degli Studi di Messina, Rockefeller University [New York], AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], CHU Necker - Enfants Malades [AP-HP], Génétique Humaine des Maladies Infectieuses (Inserm U980), Service de radiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Utah, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], Howard Hughes Medical Institute (HHMI), University of California [San Diego] (UC San Diego), University of California, Harvard Medical School [Boston] (HMS)

المصدر: Human Mutation
Human Mutation, Wiley, 2014, 35 (1), pp.137-146. ⟨10.1002/humu.22470⟩

مصطلحات موضوعية: Male, Models, Molecular, Proteomics, MESH: Sequence Analysis, DNA, MESH: Cilia / metabolism, MESH: Cerebellar Diseases / genetics, Mutant, INPP5E, Ciliopathies, MESH: Phosphoric Monoester Hydrolases / metabolism, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Cerebellum, MESH: Cyclic Nucleotide Phosphodiesterases, Type 6 / genetics, Exome, MESH: Animals, Eye Abnormalities, Genetics (clinical), Exome sequencing, Zebrafish, Genetics, 0303 health sciences, MESH: Exome, MESH: Protein Prenylation, Splice site mutation, ADP-Ribosylation Factors, MESH: ADP-Ribosylation Factors / metabolism, Cilium, MESH: Proteomics, Homozygote, MESH: Genetic Predisposition to Disease, MESH: Kidney Diseases, Cystic / genetics, prenylation, Kidney Diseases, Cystic, Pedigree, Female, MESH: Models, Molecular, MESH: Homozygote, MESH: Abnormalities, Multiple, MESH: Zebrafish Proteins / metabolism, PDE6D, MESH: Pedigree, Protein Prenylation, Biology, MESH: Retina / metabolism, MESH: Zebrafish / abnormalities, Joubert syndrome, Article, Retina, MESH: Zebrafish / genetics, 03 medical and health sciences, MESH: Cyclic Nucleotide Phosphodiesterases, Type 6 / metabolism, primary cilia, MESH: Cerebellar Diseases / metabolism, Cerebellar Diseases, medicine, Animals, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, MESH: Retina / abnormalities, MESH: Eye Abnormalities / metabolism, Cilia, 030304 developmental biology, Cyclic Nucleotide Phosphodiesterases, Type 6, MESH: Humans, Sequence Analysis, DNA, Zebrafish Proteins, medicine.disease, MESH: Cerebellum / abnormalities, Phosphoric Monoester Hydrolases, MESH: Male, MESH: Phosphoric Monoester Hydrolases / genetics, MESH: Eye Abnormalities / genetics, Protein prenylation, MESH: Zebrafish Proteins / genetics, MESH: Female, 030217 neurology & neurosurgery, MESH: Kidney Diseases, Cystic / metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ea54b2a50db5d77c8971d0cf7982565
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03240698