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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
TLDR
The data on genotype–phenotype relationships indicate that the two collagen chains play very different roles in matrix integrity and that phenotype depends on intracellular and extracellular events.
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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
TLDR
The data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function and show the importance of knowing the carrier and removal status of canine coronavirus.
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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
TLDR
None of these mutations were found in 50 controls showing that mutations affecting different functional domains of FGFR3 cause different forms of this lethal disorder.
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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
TLDR
The findings reported here confirm that NOG is essential for joint formation and suggest that Nog requirements during skeletogenesis differ between species and between specific skeletal elements within species.
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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
TLDR
A previously unknown mechanism, activation of a calcium-permeable TRP ion channel, in skeletal dysplasia pathogenesis is defined.
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
TLDR
It is found that filamin B is expressed in human growth plate chondrocytes and in the developing vertebral bodies in the mouse, indicating an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein.
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Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia
TLDR
Histological studies and electrophysiological studies suggest that altered chondrocyte differentiation in the growth plate leads to the clinical findings in metatropic dysplasia, and suggest locus homogeneity in the disease.
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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
TLDR
In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and hematopoietic progenitors; lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signaling between the hematopolietic and osteoblastic lineage cells in these diseases.
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Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
TLDR
The identification of a mutation affecting GMAP-210 in mice, and then in humans, as the cause of a lethal skeletal dysplasia underscores the value of screening for abnormal phenotypes in model organisms and identifying the causative mutations.
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