Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations inMAFB, a negative regulator of RANKL-induced osteoclastogenesis
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Multicentric Carpotarsal Osteolysis Mimicking Juvenile Idiopathic Arthritis
Background Multicentric carpotarsal osteolysis (MCTO), a skeletal dysplasia presents in early childhood mimicking juvenile idiopathic arthritis (JIA). Recognition of this syndrome is essential to avoid unnecessary treatment with immunosuppressive agents because of different course and treatment. Case Report A 3-year-old boy presented with swelling and restriction of right wrist joint and left ...
متن کاملTRPM7 Is Essential for RANKL-Induced Osteoclastogenesis
The transient receptor potential melastatin type 7 (TRPM7) channel is a widely expressed non-selective cation channel with fusion to the C-terminal alpha kinase domain and regarded as a key regulator of whole body Mg(2+) homeostasis in mammals. However, the roles of TRPM7 during osteoclastogenesis in RAW264.7 cells and bone marrow-derived monocyte/macrophage precursor cells (BMMs) are not clear...
متن کاملRemarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene.
Introduction Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant disorder, characterized by aggressive osteolysis of the carpal and tarsal bone, and progressive nephropathy leading to end-stage renal disease. Recently, heterozygous mutations in MAFB gene within a short region of the amino-terminal transcriptional activation domain had been reported to cause MCTO. Al...
متن کاملGF109203X attenuates RANKL-induced osteoclastogenesis and suppresses osteolysis in a mouse model
Aseptic loosening after joint replacement is primarily caused by wear particle-induced osteolysis, which shortens the life of the prosthesis. Research shows that there are many osteolytic cytokines around prostheses that are loosened due to wear particles. Among these, receptor activator of nuclear factor κB ligand (RANKL) is the only factor that can directly stimulate the formation and functio...
متن کاملTrio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans
Citation: Stajkovska A, Mehandziska S, Stavrevska M, Jakovleva K, Nikchevska N, Mitrev Z, Kungulovski I, Zafiroski G, Tasic V and Kungulovski G (2018) Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans. Front. Genet. 9:113. doi: 10.3389/fgene.2018.00113 Trio Clinical Exome Sequencing in a Patient With Multicentric Carp...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2014
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.36641