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Osteogenesis imperfecta type III: Mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
Moreover, the study confirmed the final effector molecules under negative regulation by miR-29 were COL1A1 , COL1A2 , and COL3A1 .
Phenotypic Classification of Dentinogenesis Imperfecta Type Clinical Manifestations Involved Gene(s) I Osteogenesis imperfecta with opalescent teeth COL1A1, COL1A2 II Opalescent dentin DSPP III Shell teeth, affects Brandywine isolate DSPP Table 5.
Sequence variants in a total of 8 genes were associated with an increased risk for SF development: NR3C1, ANKH, VDR, ROR2, CALCR, IL6, CBG, and COL1A2 (Table 2).
The study found that Pycnogenol elevated COL1A1 by 29 percent and COL1A2 by 41 percent and increased hyaluronic acid production in skin by 44 percent.
In this study, the cDNA encoding COL1A1 and COL1A2 genes were cloned and the recombinant plasmids were analysed by restriction digestion and sequencing.
MEN-2) Hereditary hemochromatosis HFE (C282Y, H63D) Familial adenomatous APC polyposis of the colon Cystic fibrosis CFTR Canavan disease ASPA Fragile X syndrome FMR1 Alpha-1-antitrypsin PI (ATT) deficiency Neurofibromatosis NF 1, NF 2 Marfan's syndrome FBN1 Osteogenesis imperfecta COL1A1, COL1A2 types I-IV Myotonic dystrophy DM 1 Adult polycystic kidney PKD1, PKD2, PKHD1 disease DISEASE INCIDENCE/PREVALENCE Huntington's disease 1 in 1,000 (carriers); 30,000 have the disease RET oncogene (multiple Approximately 200 new cases endocrine neoplasia type-2.
More than 90% of the patients with OI have mutations in collagen type I alpha ( COL1A ) 1 and COL1A2.
Additionally, at the start of the study, and at 12 weeks, a biopsy was taken to examine gene expression of HAS-1 (Hyaluronan synthase 1 enzyme) and COL1A1 and COL1A2 (collagen type I and II proteins).
2007), in human dermal fibroblast cells by human COL1A2 promoter luciferase assay in a concentration dependent manner.
The most commonly encountered forms of OI result from mutations in the COL1A1 [4] or COL1A2 genes, which encode the [alpha]1 and [alpha]2 chains of type 1 collagen.
In addition, at the beginning and again after 12 weeks of Pycnogenol supplementation, a biopsy was obtained to assess gene expression of HAS-1 and COL1A1 and COL1A2.