Changes of RAS Pathway Phosphorylation in Lymphoblastoid Cell Lines from Noonan Syndrome Patients Carrying Hypomorphic Variants in Two NS Genes.

Tritto, Viviana; Capitanio, Daniele; Gelfi, Cecilia; Riva, Paola

Tritto, Viviana; Capitanio, Daniele; Gelfi, Cecilia; Riva, Paola.

Affiliation

Tritto V; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, 20054 Segrate, Italy.
Capitanio D; Dipartimento di Scienze Biomediche per la Salute, Università degli Studi di Milano, 20133 Milan, Italy.
Gelfi C; Dipartimento di Scienze Biomediche per la Salute, Università degli Studi di Milano, 20133 Milan, Italy.
Riva P; IRCCS Istituto Ortopedico Galeazzi, 20161 Milan, Italy.

Int J Mol Sci ; 24(4)2023 Feb 17.

Article in En | MEDLINE | ID: mdl-36835447

Subject(s)

Noonan Syndrome; ras Proteins; Humans; Cell Line; Chromatography, Liquid; Leukocytes, Mononuclear; Mutation; Noonan Syndrome/genetics; Phenotype; Phosphorylation; Tandem Mass Spectrometry; ras Proteins/metabolism

Key words

Noonan syndrome; RAS pathway genes; additive effect; hypomorphic variants; phosphoproteome; proteome

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ras Proteins / Noonan Syndrome Type of study: Prognostic_studies Limits: Humans Language: En Journal: Int J Mol Sci Year: 2023 Document type: Article Affiliation country: Italy Country of publication: Switzerland

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