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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.
Segregation analyses were performed in the nuclear pedigree. Pathogenicity prediction scores for the selected variants and conservation analyses of affected amino acids were observed. ...(Ser396Arg) was homozygous in both Finnish patients. In-silico analysis predicted
Segregation analyses were performed in the nuclear pedigree. Pathogenicity prediction scores for the selected variants and conservati …
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 …
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
Molecular analysis identified a homozygous MMP2 missense mutation in exon 8 c.1228G>C (p.G410R), not detected in 260 controls and predicted by several bioinformatic tools to be pathogenic. By protein modelling, the mutant residue was predicted to affect the main …
Molecular analysis identified a homozygous MMP2 missense mutation in exon 8 c.1228G>C (p.G410R), not detected in 260 controls and pred