Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype-Reference-Cited by-同舟云学术

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Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype

Published:2023-12 Issue: Volume:19 Page:101728
ISSN:2352-1872
Container-title:Bone Reports
language:en
Short-container-title:Bone Reports

Author:

Marchionni Enrica,D'Apice Maria Rosaria,Lupo Viviana,Lattanzi Giovanna,Mattioli Elisabetta,Lisignoli Gina,Gabusi Elena,Pepe Gerardo,Helmer Citterich Manuela,Campione Elena,Nardone Anna Maria,Spitalieri Paola,Pucci Noemi,Cocciadiferro Dario,Picchi Eliseo,Garaci Francesco,Novelli Antonio,Novelli Giuseppe

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference26 articles.

1. Control of collagen triple Helix stability by phosphorylation;Acevedo-Jake;Biomacromolecules,2017

2. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype;Barat-Houari;Eur. J. Hum. Genet.,2016

3. Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report;Chen;BMC Pediatr.,2017

4. GPS 6.0: an updated server for prediction of kinase-specific phosphorylation sites in proteins;Chen;Nucleic Acids Res.,2023

5. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation;Désir;Am. J. Med. Genet. A,2012

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