Multicentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab
Sign Up to like & getrecommendations! Published in 2021 at "Bone Reports"
DOI: 10.1016/j.bonr.2021.100747
Abstract: MCTO is a rare disorder, caused by mutations in the MafB gene, a negative regulator of receptor activator of nuclear factor-кB ligand (RANKL). Manifestations include carpal and tarsal osteolysis and renal failure. Pathophysiology is poorly… read more here.
Keywords: mcto; denosumab; bone; osteolysis ... See more keywords
AB1045 MULTICENTRIC CARPOTARSAL OSTEOLYSIS (MCTO) IN PRACTICE OF PEDIATRIC RHEUMATOLOGIST: DIFFERENTIAL DIAGNOSIS WITH JUVENILE IDIOPATHIC ARTHRITIS
Sign Up to like & getrecommendations! Published in 2019 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2019-eular.4661
Abstract: Background Rare genetic pathologies involving the musculoskeletal system can be erroneously misdiagnosed as juvenile idiopathic arthritis (JIA). Idiopathic multicentric carpotarsal osteolysis (MCTO) is a congenital disease, liked to MAFB-gene mutation, described in 2012. MCTO is… read more here.
Keywords: mcto; juvenile idiopathic; carpotarsal osteolysis; idiopathic arthritis ... See more keywords
Mice harboring an MCTO mutation exhibit renal failure resembling nephropathy in human patients
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DOI: 10.1538/expanim.18-0093
Abstract: Multicentric carpotarsal osteolysis (MCTO) is a condition involving progressive osteolysis of the carpal and tarsal bones that is associated with glomerular sclerosis and renal failure (MCTO nephropathy). Previous work identified an autosomal dominant missense mutation… read more here.
Keywords: mcto; renal failure; mcto nephropathy; human patients ... See more keywords
Zebrafish mafbb Mutants Display Osteoclast Over-Activation and Bone Deformity Resembling Osteolysis in MCTO Patients
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DOI: 10.3390/biom11030480
Abstract: Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia with osteolysis at the carpal and tarsal bones. Heterozygous missense mutations in the transcription factor MAFB are found in patients with MCTO. MAFB is reported to… read more here.
Keywords: mcto; mcto patients; osteolysis mcto; mafbb ... See more keywords