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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Osteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by fragile bones and easy susceptibility to fracture. Most cases of OI are caused by mutations in type IExpand
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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early–onset osteoarthrosis. The disease genes inExpand
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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected individuals display features similar to those seen in homozygousExpand
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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor β superfamily of signalling proteins (TGFβ-FMs), such as BMP4 (ref. 1). ByExpand
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional networks, linking the cell membrane to theExpand
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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. Here, we identify a locus for anExpand
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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
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 missenseExpand
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Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMD Kozlowski type (SMDK) isExpand
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Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
BACKGROUND Establishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms can provide insights into biologic processes and their role in human disease. METHODS WeExpand
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Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia
Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include aExpand
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