scholarly journals COL1A2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Col1a2 Gene

scholarly journals Novel Pathogenic Mutation Identified in the COL1A2 Gene Presumably as a Cause of Osteogenesis Imperfecta: A Case Report and Literature Review

2016 ◽  
Vol 146 (suppl_1) ◽  
Author(s):  
Jose Scarpa Carniello ◽  
Chuanyong Lu ◽  
Jacqueline Skelton ◽  
Ning Chen ◽  
Alejandro Zuretti
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Osteogenesis Imperfecta ◽  
Pathogenic Mutation ◽  
Col1a2 Gene

scholarly journals Single Nucleotide Polymorphisms in COL1A2 Gene and Dental Fluorosis Among 4 and 8-Year-Old Nigerian Children

2020 ◽  
pp. 1-6
Author(s):  
Ruth Valentine ◽  
Olushola Ibiyemi ◽  
Anne Maguire ◽  
Fatemeh Vida Zohoori ◽  
Simon Kometa ◽  
...  
Keyword(s):  
Drinking Water ◽  
Single Nucleotide Polymorphisms ◽  
Dental Fluorosis ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Nigerian Children ◽  
Col1a2 Gene ◽  
Cooking Water ◽  
Study Participants

Aim: To determine the association between single nucleotide polymorphisms (SNPs) within the COL1A2 gene and dental fluorosis among 4- and 8-year-old Nigerian children. Methods: A cross-sectional study was undertaken among 125 four and eight-year-old Nigerian children living in naturally fluoridated areas of Ibadan, Nigeria. Drinking and cooking water samples were collected for F analysis. Buccal mucosa swabs were collected from all children and genomic DNA extracted. Presence or absence of the SNP within the COL1A2 gene was identified by PCR and DNA sequencing for 70 of the participants. Results: The median (minimum, maximum) F concentration of drinking and cooking water were 0.05 (<0.1, 3.0) mg/L and 0.01 (<0.1, 4.0) mg/L respectively. The majority of the study participants (52.9%) were heterozygous for the SNP. There was a statistically significant association between F concentration in drinking water and the occurrence of dental fluorosis (p=0.04). F concentration in drinking water was the only statistically significant predictor of dental fluorosis (p=0.03, OR=3.64(CI=1.11-11.94)) after adjusting for F concentration in cooking water and SNPs. The risk of dental fluorosis tended to increase with the presence of SNPs AA and AC (RR > 1) but this association was not statistically significant. Conclusion: The majority of the study participants had the heterozygote SNP AC genotype of COL1A2 gene. F concentration in drinking water was the only statistically significant predictor of dental fluorosis. The risk of dental fluorosis tended to increase with the presence of SNPs AA and AC (RR > 1) but was not statistically significant.

The first Japanese case of the arthrochalasia type of Ehlers–Danlos syndrome with COL1A2 gene mutation

Gene ◽  
2014 ◽  
Vol 538 (1) ◽  
pp. 199-203 ◽  
Author(s):  
Atsushi Hatamochi ◽  
Takahiro Hamada ◽  
Makoto Yoshino ◽  
Takashi Hashimoto
Keyword(s):  
Gene Mutation ◽  
Ehlers Danlos Syndrome ◽  
Japanese Case ◽  
Col1a2 Gene ◽  
Danlos Syndrome

Collagenase 1A2 (COL1A2) gene A/C polymorphism in relation to severity of dental fluorosis

2015 ◽  
Vol 44 (2) ◽  
pp. 162-168 ◽  
Author(s):  
Diana Escobar-García ◽  
Jesús Mejía-Saavedra ◽  
Lizet Jarquín-Yáñez ◽  
Nelly Molina-Frechero ◽  
Amaury Pozos-Guillén
Keyword(s):  
Dental Fluorosis ◽  
Col1a2 Gene

Tests of linkage and association of the COL1A2 gene with bone phenotypes’ variation in Chinese nuclear families

Bone ◽  
2003 ◽  
Vol 33 (4) ◽  
pp. 614-619 ◽  
Author(s):  
F.Y Deng ◽  
M.Y Liu ◽  
M.X Li ◽  
S.F Lei ◽  
Y.J Qin ◽  
...  
Keyword(s):  
Nuclear Families ◽  
Col1a2 Gene

scholarly journals PCR detection of a 38 bp length variant in the COL1A2 gene

1990 ◽  
Vol 18 (19) ◽  
pp. 5925-5925 ◽  
Author(s):  
Carolyn J. Watson ◽  
Raymond Dalgleish
Keyword(s):  
Pcr Detection ◽  
Length Variant ◽  
Col1a2 Gene

Association of Functional Microsatellites in the Human Type I Collagen α2 Chain (COL1A2) Gene with Systemic Sclerosis

2000 ◽  
Vol 272 (1) ◽  
pp. 36-40 ◽  
Author(s):  
Ryu-Ichiro Hata ◽  
Jun Akai ◽  
Akinori Kimura ◽  
Osamu Ishikawa ◽  
Masataka Kuwana ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Type I Collagen ◽  
Type I ◽  
Human Type ◽  
Col1a2 Gene

scholarly journals Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

2016 ◽  
Vol 416 (1) ◽  
pp. 200-211 ◽  
Author(s):  
Mara Marongiu ◽  
Manila Deiana ◽  
Loredana Marcia ◽  
Andrea Sbardellati ◽  
Isadora Asunis ◽  
...  
Keyword(s):  
Col1a2 Gene
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