cherubism/phosphatase

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Investigation of the SH3BP2 gene mutation in cherubism.

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Ielogoties Reģistrēties

Cherubism is a rare developmental lesion of the jaw that is generally inherited as an autosomal dominant trait. Recent studies have revealed point mutations in the SH3BP2 gene in cherubism patients. In this study, we examined a 6-year-old Korean boy and his family. We found a Pro418Arg mutation in

A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism.

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Ielogoties Reģistrēties

OBJECTIVE Cherubism is a rare hereditary multilocular cystic disease of the jaws, characterized by its typical appearance. Although nonfamilial cases have been reported, it is difficult to distinguish nonfamilial cherubism from central giant cell granuloma. Recent studies have revealed the point

Cherubism Mice Also Deficient in c-Fos Exhibit Inflammatory Bone Destruction Executed by Macrophages That Express MMP14 Despite the Absence of TRAP+ Osteoclasts.

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Ielogoties Reģistrēties

Currently, it is believed that osteoclasts positive for tartrate-resistant acid phosphatase (TRAP+) are the exclusive bone-resorbing cells responsible for focal bone destruction in inflammatory arthritis. Recently, a mouse model of cherubism (Sh3bp2KI/KI ) with a homozygous gain-of-function mutation

The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism.

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Ielogoties Reģistrēties

Cherubism is a rare genetic disorder characterized by extensive growth of a bilateral granuloma of the jaws, resulting in facial disfigurement. Cherubism is caused by gain-of-function mutations in the SH3BP2 gene, leading to overactivation of nuclear factor of activated T cells, cytoplasmic 1

Clinicopathologic study of 24 cases of cherubism.

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Ielogoties Reģistrēties

The authors reviewed 24 cases of familial or nonfamilial cherubism. The age at onset was between 6 and 10 years. It was characterized by bilateral painless swelling of jaws and eyes-to-heaven appearance was visible when the maxillae were affected as well. Radiographs showed well-defined multilocular

Study of the cell biology and biochemistry of cherubism.

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Ielogoties Reģistrēties

OBJECTIVE To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any

[Gene mutation and expression of SH-3BP-2 in cherubism].

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Ielogoties Reģistrēties

OBJECTIVE To detect the mutation and expression of SH-3BP-2 in Chinese patients of cherubism and to investigate the possible relationship of gene mutation and multinucleated giant cells in lesions. METHODS Genomic DNA was extracted from paraffin-imbedded tissues and peripheral blood samples of 10

Cherubism gene Sh3bp2 is important for optimal bone formation, osteoblast differentiation, and function.

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Ielogoties Reģistrēties

BACKGROUND Cherubism is a human genetic disorder that causes bilateral symmetrical enlargement of the maxilla and the mandible in children. It is caused by mutations in SH3BP2. The exact pathogenesis of the disorder is an area of active research. Sh3bp2 knock-in mice were developed by introducing a

RANKL-independent osteoclastogenesis in the SH3BP2 cherubism mice.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Even though the receptor activator of the nuclear factor-κB ligand (RANKL) and its receptor RANK have an exclusive role in osteoclastogenesis, the possibility of RANKL/RANK-independent osteoclastogenesis has been the subject of a long-standing debate in bone biology. In contrast, it has been

Cherubism. Histo-enzymological and ultrastructural study.

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Ielogoties Reģistrēties

The 3 cases of cherubism reported affected the mandible. They were all studied by means of histo-enzymological and ultrastructural methods. This study demonstrated 3 stages in the morphological evolution of the disease, corroborated by clinical data. The 1st stage was characterized by an osteolytic

Docosahexaenoic acid derivative prevents inflammation and hyperreactivity in lung: implication of PKC-Potentiated inhibitory protein for heterotrimeric myosin light chain phosphatase of 17 kD in asthma.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

The effects of a newly synthesized docosahexaenoic acid (DHA) derivative, CRBM-0244, on lung inflammation and airway hyperresponsiveness were determined in an in vitro model of TNF-α-stimulated human bronchi and in an in vivo model of allergic asthma. Mechanical tension measurements revealed that

Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism.

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Ielogoties Reģistrēties

Cherubism is a rare genetic disease characterized by bilateral giant cell reparative granuloma of the jaws consisting of a fibrotic stroma with giant multinucleated cells (GMCs) and osteoclastic features. Cherubism severity is highly variable, and recurrence after surgery is the most important risk.

SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Cherubism (OMIM# 118400) is a genetic disorder with excessive jawbone resorption caused by mutations in SH3 domain binding protein 2 (SH3BP2), a signaling adaptor protein. Studies on the mouse model for cherubism carrying a P416R knock-in (KI) mutation have revealed that mutant SH3BP2 enhances tumor

Multinucleated giant cells in various forms of giant cell containing lesions of the jaws express features of osteoclasts.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

BACKGROUND The nature and the mechanism involved in the formation of the multinucleated giant cells (MGCs) in various giant cell-containing lesions of the jaws are not fully understood. The aim of this study is to clarify the osteoclastic features of the MGCs in central giant cell granuloma (CGCG),

Autosomal dominant osteosclerosis: report of a kindred.

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Ielogoties Reģistrēties

Autosomal dominant osteosclerosis (ADO), a rare inherited craniotubular bone disorder, is a generalized hyperostosis that manifests itself as increased cortical thickening of the skull, mandible, metacarpals, metatarsals, long bones, vertebral bodies, ribs, and clavicles. Jaw abnormalities, which

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