Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in <i>FKBP14</i> : Further insights into the phenotypic spectrum and pathogenic mechanisms-Reference-Cited by-同舟云学术

Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms

Published:2022-09-12 Issue:12 Volume:43 Page:1994-2009
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Colman Marlies¹^ORCID,Vroman Robin¹,Dhooge Tibbe¹,Malfait Zoë¹,Symoens Sofie¹,Burnyté Biruté²^ORCID,Nampoothiri Sheela³,Kariminejad Ariana⁴,Malfait Fransiska¹,Syx Delfien¹^ORCID

Affiliation:

1. Department of Biomolecular Medicine, Center for Medical Genetics Ghent University Ghent Belgium

2. Center for Medical Genetics Vilnius University Hospital Santariskiu Klinikos Vilnius Lithuania

3. Department of Pediatric Genetics Amrita Institute of Medical Sciences & Research Centre Kerala India

4. Kariminejad—Najmabadi Pathology & Genetics Center Tehran Iran

Funder

Universiteit Gent

Fonds Wetenschappelijk Onderzoek

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24456

Reference49 articles.

1. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

2. Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome andFKBP14-related Ehlers-Danlos syndrome

3. The influence of peptidyl-prolyl cis-trans isomerase on the in vitro folding of type III collagen.

4. The Role of Cis-Trans Isomerization of Peptide Bonds in the Coil Triple Helix Conversion of Collagen

5. Absence ofFKBP10in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix

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4. Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III;International Journal of Molecular Sciences;2023-10-13