Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype ofFKBP10 Mutations-Reference-Cited by-同舟云学术

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Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype ofFKBP10 Mutations

Published:2013-07-08 Issue:9 Volume:34 Page:1279-1288
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Barnes Aileen M.¹,Duncan Geraldine²,Weis MaryAnn³,Paton William⁴,Cabral Wayne A.¹,Mertz Edward L.⁵,Makareeva Elena⁵,Gambello Michael J.⁶,Lacbawan Felicitas L.⁶,Leikin Sergey⁵,Fertala Andrzej⁷,Eyre David R.³,Bale Sherri J.²,Marini Joan C.¹

Affiliation:

1. Bone and Extracellular Matrix Branch; NICHD/NIH; Bethesda Maryland

2. Laboratory of Skin Biology; NIAMS/NIH; Bethesda Maryland

3. Orthopaedic Research Laboratories; University of Washington; Seattle Washington

4. Orthopaedic Department; Alaska Native Medical Center; Anchorage Alaska

5. Section on Physical Biochemistry; NICHD/NIH; Bethesda Maryland

6. NIH InterInstitute Genetics Fellowship Program

7. Department of Orthopaedic Surgery; Thomas Jefferson University; Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22362/fullpdf

Reference31 articles.

1. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta;Alanay;Am J Hum Genet,2010

2. Biochemical changes in the collagen of human osteoporotic bone matrix;Bailey;Connect Tissue Res,1993

3. Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix;Barnes;Hum Mutat,2012

4. Deposition and selective degradation of structurally-abnormal type I collagen in a collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro;Bateman;Matrix Biol,1994

5. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing;Cabral;J Biol Chem,2005

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4. Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification;Orphanet Journal of Rare Diseases;2023-08-09

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