Molecular Consequences of theSERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Molecular Consequences of theSERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta
Authors
Keywords
-
Journal
JOURNAL OF BIOLOGICAL CHEMISTRY
Volume 290, Issue 29, Pages 17679-17689
Publisher
American Society for Biochemistry & Molecular Biology (ASBMB)
Online
2015-05-25
DOI
10.1074/jbc.m115.661025
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB
- (2015) Frank Rauch et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
- (2015) Lutz Garbes et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
- (2014) F.S. Van Dijk et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Abnormal Type I Collagen Post-translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta
- (2014) Wayne A. Cabral et al. PLoS Genetics
- Bone Collagen: New Clues to Its Mineralization Mechanism from Recessive Osteogenesis Imperfecta
- (2013) David R. Eyre et al. CALCIFIED TISSUE INTERNATIONAL
- Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings
- (2012) Marianne Rohrbach et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta
- (2012) Wayne A. Cabral et al. GENETICS IN MEDICINE
- Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
- (2012) U. Schwarze et al. HUMAN MOLECULAR GENETICS
- Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition
- (2012) C. Widmer et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
- (2010) Helena E. Christiansen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Chaperoning osteogenesis: new protein-folding disease paradigms
- (2010) Elena Makareeva et al. TRENDS IN CELL BIOLOGY
- A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta
- (2009) Cord Drögemüller et al. PLoS Genetics
- Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13
- (2008) Cecilia Giunta et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Automated HPLC Assay for Urinary Collagen Cross-links: Effect of Age, Menopause, and Metabolic Bone Diseases
- (2008) M. E. Kraenzlin et al. CLINICAL CHEMISTRY
- ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta
- (2008) Thomas S. Lisse et al. PLoS Genetics
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started