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المؤلفون: Costa CRR; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France.; Oral Center for Inherited Diseases, University Hospital of Brasília, Oral Histopathology Laboratory, Department of Dentistry, Health Sciences Faculty, University of Brasília (UnB), Brasília, Brazil.; Department of Dentistry, Health Group of Natal (GSAU-NT), Brazilian Air Force, Natal, Parnamirim, Brazil., Chalgoumi R; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France., Baker A; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France., Guillou C; Rouen University, INSA Rouen Normandie, CNRS, Normandie Univ, PBS UMR 6270, 76000, Rouen, France.; Rouen University, INSERM US51, CNRS UAR 2026, HeRacles PISSARO, 76000, Rouen, France., Yamaguti PM; Oral Center for Inherited Diseases, University Hospital of Brasília, Oral Histopathology Laboratory, Department of Dentistry, Health Sciences Faculty, University of Brasília (UnB), Brasília, Brazil., Simancas Escorcia V; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France.; Grupo de Investigación GENOMA, Universidad del Sinú, Cartagena, Colombia., Abbad L; MRS1155, INSERM, Sorbonne Université, 75020, Paris, France., Amorin BR; Oral Center for Inherited Diseases, University Hospital of Brasília, Oral Histopathology Laboratory, Department of Dentistry, Health Sciences Faculty, University of Brasília (UnB), Brasília, Brazil., de Lima CL; Oral Center for Inherited Diseases, University Hospital of Brasília, Oral Histopathology Laboratory, Department of Dentistry, Health Sciences Faculty, University of Brasília (UnB), Brasília, Brazil., Cannaya V; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France., Benassarou M; Service de Chirurgie Maxillo-Faciale et Stomatologie, Hôpital de La Pitié Salpétrière, Sorbonne Université, 75006, Paris, France., Berdal A; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France.; CRMR O-RARES, Hôpital Rothshild, UFR d'Odontologie-Garancière, Université de Paris Cité, 75012, Paris, France., Chatziantoniou C; MRS1155, INSERM, Sorbonne Université, 75020, Paris, France., Cases O; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France., Cosette P; Rouen University, INSA Rouen Normandie, CNRS, Normandie Univ, PBS UMR 6270, 76000, Rouen, France.; Rouen University, INSERM US51, CNRS UAR 2026, HeRacles PISSARO, 76000, Rouen, France., Kozyraki R; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France. renata.kozyraki@inserm.fr.; CRMR O-RARES, Hôpital Rothshild, UFR d'Odontologie-Garancière, Université de Paris Cité, 75012, Paris, France. renata.kozyraki@inserm.fr.; Rouen University, UFR SANTE ROUEN NORMANDIE, Inserm 1096, 76000, Rouen, France. renata.kozyraki@inserm.fr., Acevedo AC; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France.; Oral Center for Inherited Diseases, University Hospital of Brasília, Oral Histopathology Laboratory, Department of Dentistry, Health Sciences Faculty, University of Brasília (UnB), Brasília, Brazil.

المصدر: Scientific reports [Sci Rep] 2024 Apr 25; Vol. 14 (1), pp. 9497. Date of Electronic Publication: 2024 Apr 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Transforming Growth Factor beta*/metabolism , Gingiva*/metabolism , Gingiva*/pathology , Signal Transduction* , Proteomics*/methods , Fibrosis*/metabolism , YAP-Signaling Proteins*/metabolism , YAP-Signaling Proteins*/genetics , Osteosclerosis*/metabolism , Osteosclerosis*/genetics , Osteosclerosis*/pathology , Adaptor Proteins, Signal Transducing*/metabolism , Adaptor Proteins, Signal Transducing*/genetics , Transcription Factors*/metabolism , Transcription Factors*/genetics , Dental Enamel Hypoplasia*/metabolism , Dental Enamel Hypoplasia*/genetics , Dental Enamel Hypoplasia*/pathology , Fibroblasts*/metabolism , Fibroblasts*/pathology , Abnormalities, Multiple* , Cleft Palate* , Exophthalmos*, Humans ; Microcephaly/metabolism ; Microcephaly/genetics ; Microcephaly/pathology ; Female ; Transcriptional Coactivator with PDZ-Binding Motif Proteins/metabolism ; Male ; Trans-Activators/metabolism ; Trans-Activators/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Intracellular Signaling Peptides and Proteins/genetics ; Casein Kinase I/metabolism ; Casein Kinase I/genetics ; Extracellular Matrix Proteins/metabolism ; Extracellular Matrix Proteins/genetics ; Amelogenesis Imperfecta/metabolism ; Amelogenesis Imperfecta/genetics ; Amelogenesis Imperfecta/pathology ; Cells, Cultured

SCR Disease Name: Raine syndrome

المؤلفون: Nacev EC; Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR (Drs Nacev, Fuerst, Knapp, and Rodriguez)., Martinez Acevedo AC; Center for Health Systems Effectiveness, Oregon Health & Science University; Portland, OR (Ms Martinez Acevedo and Dr Kaufman)., Kaufman M; Center for Health Systems Effectiveness, Oregon Health & Science University; Portland, OR (Ms Martinez Acevedo and Dr Kaufman)., Fuerst MF; Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR (Drs Nacev, Fuerst, Knapp, and Rodriguez)., Knapp JM; Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR (Drs Nacev, Fuerst, Knapp, and Rodriguez)., Rodriguez MI; Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR (Drs Nacev, Fuerst, Knapp, and Rodriguez).

المصدر: AJOG global reports [AJOG Glob Rep] 2024 Apr 05; Vol. 4 (2), pp. 100351. Date of Electronic Publication: 2024 Apr 05 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101777907 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-5778 (Electronic) Linking ISSN: 26665778 NLM ISO Abbreviation: AJOG Glob Rep Subsets: PubMed not MEDLINE