Intracellular and Extracellular Markers of Lethality in Osteogenesis Imperfecta: A Quantitative Proteomic Approach.


Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
04 Jan 2021
Historique:
received: 01 12 2020
revised: 28 12 2020
accepted: 29 12 2020
entrez: 7 1 2021
pubmed: 8 1 2021
medline: 26 3 2021
Statut: epublish

Résumé

Osteogenesis imperfecta (OI) is a heritable disorder that mainly affects the skeleton. The inheritance is mostly autosomal dominant and associated to mutations in one of the two genes,

Identifiants

pubmed: 33406681
pii: ijms22010429
doi: 10.3390/ijms22010429
pmc: PMC7795927
pii:
doi:

Substances chimiques

Biomarkers 0
COL1A2 protein, human 0
Collagen Type I 0
Collagen Type I, alpha 1 Chain 0
Proteome 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Fondazione Telethon
ID : GGP13098
Organisme : Fondazione Cariplo
ID : grant n. 2013-0612

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Auteurs

Luca Bini (L)

Functional Proteomics Laboratory, Department of Life Sciences, University of Siena, 53100 Siena, Italy.

Domitille Schvartz (D)

Division of Laboratory Medicine, Department of Medicine, University Medical Center, 1206 Geneva, Switzerland.

Chiara Carnemolla (C)

Functional Proteomics Laboratory, Department of Life Sciences, University of Siena, 53100 Siena, Italy.

Roberta Besio (R)

Biochemistry Unit, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.

Nadia Garibaldi (N)

Biochemistry Unit, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Istituto Universitario di Studi Superiori-IUSS, 27100 Pavia, Italy.

Jean-Charles Sanchez (JC)

Division of Laboratory Medicine, Department of Medicine, University Medical Center, 1206 Geneva, Switzerland.

Antonella Forlino (A)

Biochemistry Unit, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.

Laura Bianchi (L)

Functional Proteomics Laboratory, Department of Life Sciences, University of Siena, 53100 Siena, Italy.

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Classifications MeSH