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Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.
Ishaq T, Loid P, Ishaq HA, Seo GH, Mäkitie O, Naz S. Ishaq T, et al. BMC Musculoskelet Disord. 2023 Sep 14;24(1):735. doi: 10.1186/s12891-023-06856-2. BMC Musculoskelet Disord. 2023. PMID: 37710205 Free PMC article.
BACKGROUND: Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder characterized by marked progressive bone loss and joint destruction resulting in skeletal deformities. ...(Ser396Arg) variant suggested t …
BACKGROUND: Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare autosomal recessive disord …
Different roles of matrix metalloproteinase 2 in osteolysis of skeletal dysplasia and bone metastasis (Review).
Li X, Jin L, Tan Y. Li X, et al. Mol Med Rep. 2021 Jan;23(1):70. doi: 10.3892/mmr.2020.11708. Epub 2020 Nov 25. Mol Med Rep. 2021. PMID: 33236155 Free PMC article. Review.
Excessive activation of MMP2 promotes osteolytic metastasis and bone destruction in late-stage cancers, while its loss-of-function mutations result in the decreased bone mineralization and generalized osteolysis occurring progressively in skeletal developmental disorders, particu …
Excessive activation of MMP2 promotes osteolytic metastasis and bone destruction in late-stage cancers, while its loss-of-function mutations …
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.
Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, Cerri A, Pietrogrande L, Larizza L. Azzollini J, et al. J Hum Genet. 2014 Nov;59(11):631-7. doi: 10.1038/jhg.2014.84. Epub 2014 Oct 2. J Hum Genet. 2014. PMID: 25273674
Multicentric osteolysis, nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder. ...Molecular analysis identified a homozygous MMP2 missense mutation in exon 8 c.1228G>C (p.G410R), not detected in 260 controls and predicte …
Multicentric osteolysis, nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder. ...Mole …
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene.
Al-Aqeel AI. Al-Aqeel AI. Saudi Med J. 2005 Jan;26(1):24-30. Saudi Med J. 2005. PMID: 15756348
RESULTS: Some affected individuals were homoallelic for a nonsense mutation (TCA>TAA) in codon 244 of exon 5, predicting the replacement of a tyrosine residue by a stop codon in the first fibronectin type II domain (Y244X). ...
RESULTS: Some affected individuals were homoallelic for a nonsense mutation (TCA>TAA) in codon 244 of exon 5, predicting the repla …