DDX58 and Classic Singleton-Merten Syndrome.

Ferreira, Carlos R; Crow, Yanick J; Gahl, William A; Gardner, Pamela J; Goldbach-Mansky, Raphaela; Hur, Sun; de Jesús, Adriana Almeida; Nehrebecky, Michele; Park, Ji Woo; Briggs, Tracy A

Ferreira, Carlos R; Crow, Yanick J; Gahl, William A; Gardner, Pamela J; Goldbach-Mansky, Raphaela; Hur, Sun; de Jesús, Adriana Almeida; Nehrebecky, Michele; Park, Ji Woo; Briggs, Tracy A.

Afiliación

Ferreira CR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. carlos.ferreira@nih.gov.
Crow YJ; Institute of Genetics and Molecular Medicine, Centre for Genomic and Experimental Medicine, The University of Edinburgh, Edinburgh, UK.
Gahl WA; Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France.
Gardner PJ; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Goldbach-Mansky R; Office of the Clinical Director, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Hur S; Translational Autoinflammatory Disease Studies (TADS), National Institute of Allergy and Infectious Diseases (NIAID) National Institutes of Health, Bethesda, MD, USA.
de Jesús AA; Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, USA.
Nehrebecky M; Translational Autoinflammatory Disease Studies (TADS), National Institute of Allergy and Infectious Diseases (NIAID) National Institutes of Health, Bethesda, MD, USA.
Park JW; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Briggs TA; Biology Department in Morrissey College of Arts and Sciences, Boston College, Chestnut Hill, USA.

J Clin Immunol ; 39(1): 75-80, 2019 01.

Article en En | MEDLINE | ID: mdl-30574673

Asunto(s)

Enfermedades de la Aorta/genética; Proteína 58 DEAD Box/genética; Hipoplasia del Esmalte Dental/genética; Metacarpo/anomalías; Enfermedades Musculares/genética; Odontodisplasia/genética; Osteoporosis/genética; Calcificación Vascular/genética; Adulto; Línea Celular; Femenino; Mutación con Ganancia de Función/genética; Células HEK293; Humanos; Interferón Tipo I/genética; Masculino; Persona de Mediana Edad; Fenotipo; Regiones Promotoras Genéticas/genética; Receptores Inmunológicos

Palabras clave

Interferonopathy; Singleton-Merten syndrome; retinoic acid-inducible gene I; type I interferon

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteoporosis / Enfermedades de la Aorta / Odontodisplasia / Hipoplasia del Esmalte Dental / Calcificación Vascular / Proteína 58 DEAD Box / Metacarpo / Enfermedades Musculares Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Clin Immunol Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

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