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Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.
Colombo, Elisa Adele; Valiante, Michele; Uggeri, Matteo; Orro, Alessandro; Majore, Silvia; Grammatico, Paola; Gentilini, Davide; Finelli, Palma; Gervasini, Cristina; D'Ursi, Pasqualina; Larizza, Lidia.
Afiliación
  • Colombo EA; Genetica Medica, Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, 20142 Milano, Italy.
  • Valiante M; Laboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00152 Roma, Italy.
  • Uggeri M; Department of Biomedical Sciences National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy.
  • Orro A; Department of Pharmacy, Section of Medicinal Chemistry, School of Medical and Pharmaceutical Sciences, University of Genoa, 16132 Genoa, Italy.
  • Majore S; Department of Biomedical Sciences National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy.
  • Grammatico P; Laboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00152 Roma, Italy.
  • Gentilini D; Laboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00152 Roma, Italy.
  • Finelli P; Bioinformatics and Statistical Genomics Unit, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.
  • Gervasini C; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
  • D'Ursi P; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.
  • Larizza L; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20133 Milan, Italy.
Int J Mol Sci ; 24(4)2023 Feb 16.
Article en En | MEDLINE | ID: mdl-36835439
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome Rothmund-Thomson / Mutación de Línea Germinal / Proteínas de Complejo Poro Nuclear Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome Rothmund-Thomson / Mutación de Línea Germinal / Proteínas de Complejo Poro Nuclear Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Italia