-
The data independently prove the existence of an unusual phenotype of high bone mass osteogenesis imperfecta caused by a mutation in the procollagen C-propeptide cleavage with a clinically persistent phenotype through adulthood.
-
the presence or absence of a single cysteine in type-I collagen's C-propeptide domain is a key factor governing the ability of a given collagen polypeptide to stably homotrimerize.
-
Structural basis of homo- and heterotrimerization of COL1A1/ COL1A2 has been reported.
-
Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation has been reported in a Thai adult patient and his preschool daughter.
-
Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
-
This study showed that there is no association of collagen type-(2a) and intracranial aneurysms.
-
High COL1A2 expression is associated with Gastric Cancer.
-
The aim of this study is to determine whether EcoRI, Del38 and PvuII polymorphisms of COL1A2 are associated with the development of osteoporosis and osteopenia in post-menopausal Polish women. The analyzed COL1A2 polymorphisms seem to be related to osteoporosis development. The COL1A2 polymorphism may be a genetic risk factor related to the development of osteoporosis.
-
the efficacy of pamidronate treatment does not seem to be related to the genotype of type I collagen in patients with osteogenesis imperfecta.
-
COL1A2 gene mutation is associated with osteogenesis imperfecta.
-
We evaluated the association of a 7-base pair (7-bp) indel polymorphism (rs3917) in the 3'UTR of COL1A2 with the risk of sudden cardiac death in a Chinese population. Our data provided initial evidence that rs3917 was highly relevant to SCD susceptibility, and this indel may become a potential marker for molecular diagnosis and genetic counseling of SCD.
-
meta-analysis suggests COL1A2 rs42524 is a significant risk factor for Intracranial Aneurysm susceptibility.
-
mutations of the COL1A1 and COL1A2 genes probably underlie the disease in the four families
-
By acting probably as a posttranscriptional regulator with a different efficacy on COL2A1 and COL1A2 expression, miR-29b can contribute to the collagens imbalance associated with an abnormal chondrocyte phenotype.
-
Alterations in the extracellular matrix microenvironment, particularly type I collagen, likely contributes to bladder cancer progression.
-
High methylation of COL1A2 is associated with head and neck cancer.
-
a phenotypically distinctive group of OI is caused by a mono-allelic COL1 C-propeptide cleavage site mutations and biallelic BMP1 mutations. The subgroup is characterized by high bone mass and other unique skeletal changes, such as coarse trabeculae, pseudo-fractures, and metaphyseal constriction
-
Genetic variation in COL1A1 and COL1A2 associated with osteogenesis imperfect in Vietnamese patients.
-
We conducted a retrospective analysis of data from clinical, laboratory, and radiographic information from children evaluated for child abuse in which molecular testing for COL1A1 and COL1A2 genes was conducted. A total of 43 patients underwent molecular testing for Osteogenesis imperfecta (OI)
-
We suggest that the mutation p.G337C in the COL1A2 gene is pathogenic for osteogenesis imperfecta by affecting the protein structure and the function of collagen.