Dominant‐negativeSOX9mutations in campomelic dysplasia-Reference-Cited by-同舟云学术

Dominant‐negativeSOX9mutations in campomelic dysplasia

Published:2019-08-26 Issue:12 Volume:40 Page:2344-2352
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Csukasi Fabiana¹^ORCID,Duran Ivan¹,Zhang Wenjuan¹²³,Martin Jorge H.¹,Barad Maya¹,Bamshad Michael⁴⁵⁶,Weis Mary Ann⁷,Eyre David⁷,Krakow Deborah¹³⁸⁹,Cohn Daniel H.¹²³^ORCID

Affiliation:

1. Department of Orthopaedic SurgeryUniversity of California Los Angeles Los Angeles California

2. Department of Molecular Cell and Developmental BiologyUniversity of California Los Angeles Los Angeles California

3. Orthopaedic Institute for ChildrenUniversity of California Los Angeles Los Angeles California

4. Department of Genome SciencesUniversity of Washington Seattle Washington

5. Department of PediatricsUniversity of Washington Seattle Washington

6. University of Washington Center for Mendelian Genomics Seattle Washington

7. Department of Orthopaedic SurgeryUniversity of Washington Seattle Washington

8. Department of Human GeneticsUniversity of California Los Angeles Los Angeles California

9. Department of Obstetrics and GynecologyUniversity of California Los Angeles Los Angeles California

Funder

Center for Scientific Review

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23888

Reference25 articles.

1. The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6

2. SOX9 directly regulates the type-ll collagen gene

3. Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization

4. An amino acid substitution (Gly853‐‐>Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis;Bogaert R.;Journal of Biological Chemistry,1992

5. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

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1. Unveiling the role of SRY in male-biased cancers: Insights into the molecular basis of sex disparities in high-grade glioma and melanoma;2023-07-15

2. Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis;2023-05-30

3. Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia;Frontiers in Pediatrics;2023-01-18

4. The regulatory genome and defects in monogenic diseases;The Regulatory Genome in Adaptation, Evolution, Development, and Disease;2023

5. Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report;Frontiers in Pediatrics;2022-11-18