Transcriptomic and bioinformatic analysis of Clcn7-dependent Autosomal Dominant Osteopetrosis type 2. Preclinical and clinical implications.
Bioinformatics
Gene ontology
Osteopetrosis
RNA deep sequencing
Rare bone disease
Journal
Bone
ISSN: 1873-2763
Titre abrégé: Bone
Pays: United States
ID NLM: 8504048
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
08
07
2020
revised:
26
11
2020
accepted:
17
12
2020
pubmed:
29
12
2020
medline:
6
7
2021
entrez:
28
12
2020
Statut:
ppublish
Résumé
Autosomal Dominant Osteopetrosis type 2 (ADO2) is a rare genetic disease characterized by dense yet fragile bones. To date, the radiological approach remains the gold standard for ADO2 diagnosis. However, recent observations unveiled that ADO2 is a systemic disease affecting various organs beyond bone, including lung, kidney, muscle, and brain. Monitoring disease status and progression would greatly benefit from specific biomarkers shared by the affected organs. In this work, data derived from RNA deep sequencing (RNA dSeq) of bone, lung, kidney, muscle, brain, and osteoclasts isolated from wildtype (WT) and Clcn7
Identifiants
pubmed: 33359007
pii: S8756-3282(20)30616-5
doi: 10.1016/j.bone.2020.115828
pii:
doi:
Substances chimiques
CLCN7 protein, human
0
Chloride Channels
0
Clcn7 protein, mouse
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
115828Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.