Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects.


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:
11 Dec 2021
Historique:
received: 11 11 2021
revised: 25 11 2021
accepted: 09 12 2021
entrez: 24 12 2021
pubmed: 25 12 2021
medline: 11 1 2022
Statut: epublish

Résumé

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities, caused by loss-of-function mutations in the

Identifiants

pubmed: 34948128
pii: ijms222413331
doi: 10.3390/ijms222413331
pmc: PMC8707819
pii:
doi:

Substances chimiques

Proteins 0
SBDS protein, human 0
TP53 protein, human 0
Tumor Suppressor Protein p53 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Ministero della Salute
ID : GR-2016-02363570
Organisme : AISS
ID : Grant 2018

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Auteurs

Annalisa Frattini (A)

Institute for Genetic and Biomedical Research (IRGB), UOS Milano CNR, Via Fantoli, 15/16, 20138 Milano, Italy.
Department of Medicine and Surgery (DMC), Universita' degli Studi dell'Insubria, Via J.H. Dunant, 5, 21100 Varese, Italy.

Simona Bolamperti (S)

Bone Metabolism Unit, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 20132 Milano, Italy.

Roberto Valli (R)

Department of Medicine and Surgery (DMC), Universita' degli Studi dell'Insubria, Via J.H. Dunant, 5, 21100 Varese, Italy.

Marco Cipolli (M)

Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata di Verona, Piazzale Aristide Stefani, 1, 37126 Verona, Italy.

Rita Maria Pinto (RM)

Department of Onco-Hematology, Ospedale Bambino Gesù IRCCS, Piazza S.Onofrio, 4, 00165 Roma, Italy.

Elena Bergami (E)

Pediatric Onco-Hematology, IRCCS Policlinico San Matteo, Viale Camillo Golgi, 19, 27100 Pavia, Italy.

Maria Rita Frau (MR)

Pediatrics and Intensive Neonatal Therapy, Ospedale San Francesco, Via Salvatore Mannironi, 08100 Nuoro, Italy.

Simone Cesaro (S)

Pediatric Hematology Oncology, Ospedale Donna Bambino, Azienda Ospedaliera Universitaria Integrata, Piazzale Aristide Stefani, 1, 37126 Verona, Italy.

Michela Signo (M)

Bone Metabolism Unit, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 20132 Milano, Italy.

Valentino Bezzerri (V)

Cystic Fibrosis Center, Azienda Ospedaliero Universitaria Ospedali Riuniti di Ancona, Via Conca, 71, 60126 Ancona, Italy.

Giovanni Porta (G)

Department of Medicine and Surgery (DMC), Universita' degli Studi dell'Insubria, Via J.H. Dunant, 5, 21100 Varese, Italy.

Abdul Waheed Khan (AW)

Department of Medicine and Surgery (DMC), Universita' degli Studi dell'Insubria, Via J.H. Dunant, 5, 21100 Varese, Italy.

Alessandro Rubinacci (A)

Bone Metabolism Unit, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 20132 Milano, Italy.

Isabella Villa (I)

Bone Metabolism Unit, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 20132 Milano, Italy.

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Classifications MeSH