1. HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.

    Human Molecular Genetics 24(7):1918 (2015) PMID 25510505

    Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the type I procollagen genes, but mutations in a growing number of genes have been identified that produce autosomal recessive forms of the ...
  2. HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.

    Human Molecular Genetics 24(7):1918 (2015) PMID 25510505 PMCID PMC4355024

    Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the type I procollagen genes, but mutations in a growing number of genes have been identified that produce autosomal recessive forms of the ...
  3. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

    Nature Communications 6:7092 (2015) PMID 26077881 PMCID PMC4470332

    The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but the...
  4. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

    American Journal of Medical Genetics Part A 164A(9):2407 (2014) PMID 24953221 PMCID PMC4134718

  5. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

    American Journal of Medical Genetics Part A 164A(9):2407 (2014) PMID 24953221 PMCID PMC4134718

  6. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders.

    Journal of Bone and Mineral Research 29(8):1815 (2014) PMID 24644033 PMCID PMC4108531

    Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal dominant brachyolmia to lethal metatropic dysplasia. To develop an animal model of these disorders, we created transgenic mice expres...
  7. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders.

    Journal of Bone and Mineral Research 29(8):1815 (2014) PMID 24644033 PMCID PMC4108531

    Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal dominant brachyolmia to lethal metatropic dysplasia. To develop an animal model of these disorders, we created transgenic mice expres...
  8. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders.

    Journal of Bone and Mineral Research 29(8):1815 (2014) PMID 24644033 PMCID PMC4108531

    Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal dominant brachyolmia to lethal metatropic dysplasia. To develop an animal model of these disorders, we created transgenic mice expres...
  9. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders.

    Journal of Bone and Mineral Research 29(8):1815 (2014) PMID 24644033 PMCID PMC4108531

    Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal dominant brachyolmia to lethal metatropic dysplasia. To develop an animal model of these disorders, we created transgenic mice expres...
  10. Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1.

    Stem Cells and Development 23(13):1464 (2014) PMID 24559391 PMCID PMC4066255

    Skeletal dysplasias (SDs) are caused by abnormal chondrogenesis during cartilage growth plate differentiation. To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of met...
  11. Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1.

    Stem Cells and Development 23(13):1464 (2014) PMID 24559391 PMCID PMC4066255

    Skeletal dysplasias (SDs) are caused by abnormal chondrogenesis during cartilage growth plate differentiation. To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of met...
  12. Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1.

    Stem Cells and Development 23(13):1464 (2014) PMID 24559391 PMCID PMC4066255

    Skeletal dysplasias (SDs) are caused by abnormal chondrogenesis during cartilage growth plate differentiation. To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of met...
  13. Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations.

    FASEB Journal 28(6):2525 (2014) PMID 24577120 PMCID PMC4021446

    Point mutations in the calcium-permeable TRPV4 ion channel have been identified as the cause of autosomal-dominant human motor neuropathies, arthropathies, and skeletal malformations of varying severity. The objective of this study was to determine the mechanism by which TRPV4 channelopathy muta...
  14. Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations.

    FASEB Journal 28(6):2525 (2014) PMID 24577120 PMCID PMC4021446

    Point mutations in the calcium-permeable TRPV4 ion channel have been identified as the cause of autosomal-dominant human motor neuropathies, arthropathies, and skeletal malformations of varying severity. The objective of this study was to determine the mechanism by which TRPV4 channelopathy muta...
  15. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

    The American Journal of Human Genetics 93(5):926 (2013) PMID 24183449 PMCID PMC3824112

    Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period. Presently, ...
  16. WDR34Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

    The American Journal of Human Genetics 93(5):926 (2013)

    Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period. P...
  17. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

    New England Journal of Medicine 368(19):1809 (2013) PMID 23656646 PMCID PMC3709450

    This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive o...
  18. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

    New England Journal of Medicine 368(19):1809 (2013) PMID 23656646 PMCID PMC3709450

    This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive o...
  19. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

    The American Journal of Human Genetics 92(1):137 (2013) PMID 23273567 PMCID PMC3542462

    Opsismodysplasia is a rare, autosomal-recessive skeletal dysplasia characterized by short stature, characteristic facial features, and in some cases severe renal phosphate wasting. We used linkage analysis and whole-genome sequencing of a consanguineous trio to discover that mutations in inosito...
  20. David L. Rimoin.

    The American Journal of Human Genetics 91(3):403 (2012) PMID 23240132 PMCID PMC3511997