Compared with an EXT1 normal gene sequence, the EXT1 gene mutation sequence has c.1325delC mutation. The EXT1 gene mutation sequence has the advantages that novel HME pathogenic mutation is provided; the EXT1 gene mutation sequence can be applied to early diagnosis on HME and can be applied...
Legeai-Mallet L., et al.: Ext 1 Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses. J Bone Miner Res. Aug. 2000; 15(8):1489-500.Legeai-Mallet L, Rossi A, Benoist-Lasselin C, Piazza R, Mallet JF, Delezoide AL, Munnich A,...
Mutation screeningClinical heterogeneityHereditary multiple exostoses (HME) is an autosomal dominant orthopaedic disorder most frequently caused by mutations in theEXT1gene. The aim of the present study is to determine the underlying molecular defect of HME in two multigenerational Tunisian families with...
Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC Diagnosis: Genetic confirmation of the diagnosis can be obtained by mutation analysis of EXT1, EXT2, and EXT3 (100, 102, 103). Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein...
Mutation screening was performed by using denaturing high performance liquid chromatography (dHPLC) and automated sequencing. In 17 of 23 patients novel pathogenic mutations have been identified; eleven in the EXT1 and six in the EXT2 gene. Five patients were carriers of recurrent mutations in the...
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We demonstrate a system, ARMS (Amplif......
Mouse genetic models have shown that MO results from a somatic mutation in the remaining wild-type copy of the gene in chondrocytes (Jones et al., 2010). Show abstract The Antimicrobial Protein REG3A Regulates Keratinocyte Proliferation and Differentiation after Skin Injury 2012, Immunity Citation ...
Mutation Screening for the EXT1 and EXT2 Genes in Chinese Patients with Multiple Osteochondromas Two genes with mutations that are most commonly associated with MO have been identified as EXT1 and EXT2, which are Exostosin-1 and Exostosin-2. In ... QL Kang,J Xu,Z Zhang,... - 《Archive...
A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree. Li Y,Wang J,Li H,et al. The Journal of Pathology . 2010Li Y,Wang J,Li H. A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree[J].{H}PATHOLOGY,2010,(1):91-93...
Compared with SEQ ID NO.1, the nucleic acid of the separated encoded EXT1 mutant has c.1457-1458insG mutation; by detecting whether the novel mutant exists in the biologic sample, whether the biologic sample is likely to have hereditary multiple chondroma disease can be effectively detected....