|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
|
29543922 |
2018 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this study, the effects of the concurrent use of BP and SclAb were evaluated during bone growth in a mouse harboring an OI-causing Gly→Cys mutation on col1a1.
|
29544018 |
2018 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Osteogenesis imperfecta (OI) is typically characterized by low bone mass and increased bone fragility caused by heterozygous mutations in the type I procollagen genes (COL1A1/COL1A2).
|
28916840 |
2018 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Targeted next-generation sequencing of genes associated with OI in humans (COL1A1, COL1A2, LEPRE1, SERPINH1, and CRTAP) revealed a G>A heterozygous mutation in the splice donor site of exon 18 of the COL1A2 gene (c.936 + 1G>A).
|
29036614 |
2018 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones.
|
29669177 |
2018 |
|
Osteogenesis Imperfecta
|
0.900 |
Biomarker
|
disease |
BEFREE |
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.
|
29101475 |
2018 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue.
|
28916811 |
2017 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
[Corrigendum] Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
|
28035422 |
2017 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta.
|
28863000 |
2017 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
After the discovery of the COL1A1 variant, the skeletal phenotype was diagnosed as a high bone mass form of osteogenesis imperfecta.
|
28173822 |
2017 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The Estonian OI cohort differs due to the high number of quantitative variants and simple missense variants, which are mostly Gly to Ser substitutions and do not extend the chain domain of COL1A1/2 products.
|
28810924 |
2017 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure.
|
28820180 |
2017 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
|
28498836 |
2017 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, mainly caused by mutations in the collagen type I genes (COL1A1 and COL1A2).
|
27510842 |
2017 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This COL1A1 mutation was hitherto identified in four probands with lethal OI, and never in EDS patients.
|
28261977 |
2017 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In contrast to "classical" forms of osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function mutation in the IFITM5 gene, encoding the interferon-induced transmembrane protein 5, or bone-restricted interferon-inducible transmembrane (IFITM)-like protein (BRIL).
|
28548288 |
2017 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Bisphosphonates are widely used to treat children with osteogenesis imperfecta (OI), a bone fragility disorder that is most often caused by mutations in COL1A1 or COL1A2.
|
26927310 |
2016 |
|
Osteogenesis Imperfecta
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.
|
26712438 |
2016 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Further genotype analysis excluded types of osteogenesis imperfecta associated with mutations in the COL1A1 and COL1A2 genes.
|
28222408 |
2016 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness.
|
27044453 |
2016 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It has been known for three decades that the majority of individuals with OI have mutations in COL1A1 or COL1A2, the two genes coding for collagen type I alpha chains, but in the past 10 years defects in at least 17 other genes have been linked to OI.
|
27492436 |
2016 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The mutations p.Gly257Arg, p.Gly767Ser and p.Gly821Ser in COL1A1 and p.Gly337Ser in COL1A2 may be located at a mutation hotspot for human OI due to the high repetition rate in OI patients.
|
27748872 |
2016 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Osteogenesis imperfecta (OI) type I is usually caused by COL1A1 stop or frameshift mutations, leading to COL1A1 haploinsufficiency.
|
26478226 |
2016 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
|
27519266 |
2016 |
|
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Targeted COL1A1 screening of 26 additional patients detected three further heterozygous variants (p.Arg253*, p.Gly767Ser and p.Gly154Val) in three distinct subjects: two of them diagnosed with early onset glaucoma and mild form of osteogenesis imperfecta (OI), one patient with a diagnosis of PCG at age 4 years.
|
27484908 |
2016 |