thromboxane-a2 and Bone-Diseases

thromboxane-a2 has been researched along with Bone-Diseases* in 1 studies

Other Studies

1 other study(ies) available for thromboxane-a2 and Bone-Diseases

Article	Year
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nature genetics, 2008, Volume: 40, Issue:3 Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). TXAS, an enzyme of the arachidonic acid cascade, produces thromboxane A(2) (TXA(2)). Platelets from subjects with GHDD showed a specific deficit in arachidonic acid-produced aggregation. We also found that TXAS and TXA(2) modulated expression of TNFSF11 and TNFRSF11B (encoding RANKL and osteoprotegerin (OPG), respectively) in primary cultured osteoblasts. Topics: Amino Acid Substitution; Bone Density; Bone Diseases; Bone Remodeling; Catalytic Domain; Cells, Cultured; Consanguinity; Enzyme-Linked Immunosorbent Assay; Gene Expression Regulation; Humans; Models, Biological; Osteoprotegerin; Point Mutation; RANK Ligand; Syndrome; Thromboxane A2; Thromboxane-A Synthase	2008

Article

Year

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

Nature genetics, 2008, Volume: 40, Issue:3

Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). TXAS, an enzyme of the arachidonic acid cascade, produces thromboxane A(2) (TXA(2)). Platelets from subjects with GHDD showed a specific deficit in arachidonic acid-produced aggregation. We also found that TXAS and TXA(2) modulated expression of TNFSF11 and TNFRSF11B (encoding RANKL and osteoprotegerin (OPG), respectively) in primary cultured osteoblasts.

Topics: Amino Acid Substitution; Bone Density; Bone Diseases; Bone Remodeling; Catalytic Domain; Cells, Cultured; Consanguinity; Enzyme-Linked Immunosorbent Assay; Gene Expression Regulation; Humans; Models, Biological; Osteoprotegerin; Point Mutation; RANK Ligand; Syndrome; Thromboxane A2; Thromboxane-A Synthase

2008