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Clinical spectrum of fibroblast growth factor receptor mutations
TLDR
The present review list all mutations described to date in these three fibroblast growth factor receptor genes and the phenotypes associated with them, including the most suggested causative mechanisms for these conditions. Expand
The phenotypic spectrum of COL2A1 mutations
TLDR
To further elucidate the genotype‐phenotype relationship of type II collagenopathies, COL2A1 mutations were examined in 56 families that were suspected of havingtype II collagenopathy, and found 38 mutations in 41 families that fell along the SED spectrum. Expand
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
TLDR
The data suggest that TD can be divided into at least two groups (TD1 and TD2) based on the presence of straight or curved femora, and the variable presence of CS and severity of the radiologic and histologic findings in the other substitutions may be due to other genetic, environmental, or stochastic factors. Expand
Transplantation of marrow-derived mesenchymal stem cells and platelet-rich plasma during distraction osteogenesis--a preliminary result of three cases.
TLDR
Although these results are still preliminary, transplantation of osteoblast-like cells and PRP, which seemed to be a safe and minimally invasive cell therapy, could shorten the treatment period by acceleration of bone regeneration during distraction osteogenesis. Expand
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
TLDR
Mutations in SIP1, encoding Smad interacting protein-1, cause disease in a series of cases of HSCR, and SIP 1 seems to have crucial roles in normal embryonic neural and neural crest development. Expand
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
TLDR
Findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes, and suggest enhanced TGFβ signaling caused by FBN 1 mutations can trigger either Marfan syndrome or GD and AD. Expand
The effect of the platelet concentration in platelet-rich plasma gel on the regeneration of bone.
TLDR
It is indicated that a high platelet concentration in the platelet-rich plasma in combination with osteoblastic cells could accelerate the formation of new bone during limb-lengthening procedures. Expand
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
TLDR
The pleiotropic phenotypes of the disorders indicate that B3GALT6 plays a critical role in a wide range of biological processes in various tissues, including skin, bone, cartilage, tendon, and ligament. Expand
Chondrogenesis enhanced by overexpression of sox9 gene in mouse bone marrow-derived mesenchymal stem cells.
TLDR
Results indicated that cell-mediated sox9 gene therapy could be a novel strategy for hyaline cartilage damage. Expand
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family
TLDR
A missense mutation is located in the type II collagen gene (COL2A1) in a Japanese family with an autosomal dominant hip disorder manifesting as LCPD and showing considerable intra-familial phenotypic variation, the first report of a mutation in hereditary LCPD. Expand
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