| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rajdeep Basu, Soumik Goswami, Nilanjan Sengupta, Arjun Baidya, Sunetra Mondal, Kumar Swapnil, Rajat Deb, Vibhu Ranjan Khare, Joydip Datt. Rare coexistence of hypopituitarism with osteogenesis imperfecta - A double-trouble for bone. Bone reports. vol 21. 2024-05-06. PMID:38706521. |
diagnosis of oi was suggested by heterozygous missense variant in exon 40 of the col1a2 gene (chr7: g.94423092g > a; depth: 99×) that resulted in the amino acid substitution of serine for glycine at codon 847. |
2024-05-06 |
2024-05-08 |
Not clear |
| Nadia Garibaldi, Roberta Besio, Raymond Dalgleish, Simona Villani, Aileen M Barnes, Joan C Marini, Antonella Forlin. Dissecting the phenotypic variability of osteogenesis imperfecta. Disease models & mechanisms. vol 15. issue 5. 2022-05-16. PMID:35575034. |
oi is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the col1a1 and col1a2 genes that encode the α1(i) and α2(i) collagen chains. |
2022-05-16 |
2023-08-13 |
Not clear |
| Vrisha Madhuri, Agnes Selina, Lakshmi Loganathan, Ashis Kumar, Vignesh Kumar, Renita Raymond, Sowmya Ramesh, Nimmy Vincy, Giftson Joel, Deeptiman James, Madhavi Kandagaddala, Antonisamy . Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients. Annals of human genetics. vol 85. issue 1. 2021-05-06. PMID:32770541. |
col1a1 and col1a2 gene variants were identified in 44.23%, of which 28.84% were glycine substitution abnormalities. |
2021-05-06 |
2023-08-13 |
Not clear |
| Yanjiao Li, Hongsuo Liang, Dekai Yuan, Baoling Liu, Ling Liu, Yongfa Zhang, Kaiyu Hou, Yunchao Zhang, Bin Chen, Jing Ding, Yunxia Li, Qilin Wang, Haiying Wu, Hong Shi, Min H. A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing. Annals of human genetics. vol 84. issue 4. 2021-03-22. PMID:31853946. |
the mutation of rs66612022 (col1a2:p.gly328ser) related to glycine substitution was found in the seven patients. |
2021-03-22 |
2023-08-13 |
Not clear |
| Alice Costantini, Symeon Tournis, Anders Kämpe, Noor Ul Ain, Fulya Taylan, Artemis Doulgeraki, Outi Mäkiti. Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation. Calcified tissue international. vol 103. issue 3. 2019-09-09. PMID:29572562. |
here, we describe a consanguineous family with autosomal recessive oi caused by a novel homozygous glycine substitution in col1a2, nm_000089.3: c.604g>a, p.(gly202ser), detected by whole-genome sequencing. |
2019-09-09 |
2023-08-13 |
Not clear |
| Alice Costantini, Symeon Tournis, Anders Kämpe, Noor Ul Ain, Fulya Taylan, Artemis Doulgeraki, Outi Mäkiti. Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation. Calcified tissue international. vol 103. issue 3. 2019-09-09. PMID:29572562. |
interestingly, the parents and one sister, all carriers of the col1a2 glycine mutation, did not have manifestations of oi. |
2019-09-09 |
2023-08-13 |
Not clear |
| Elena Makareeva, Guoli Sun, Lynn S Mirigian, Edward L Mertz, Juan C Vera, Nydea A Espinoza, Kathleen Yang, Diana Chen, Teri E Klein, Peter H Byers, Sergey Leiki. Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta. PloS one. vol 13. issue 7. 2019-01-08. PMID:29990383. |
more than 90% of patients are heterozygous for mutations in type i collagen genes, col1a1 and col1a2, and a common mutation is substitution for an obligatory glycine in the triple helical gly-x-y repeats. |
2019-01-08 |
2023-08-13 |
Not clear |
| Akin Usta, Dilay Karademir, Eylem Sen, Selcuk Yazici, Ertan Adali, Erkan Erdem, Meric Karaca. Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene. The Pan African medical journal. vol 27. 2017-09-22. PMID:28904723. |
molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 g > t) of the exon 12 in the col1a2 gene; which lead to the glycine modification with valine (p.gly187val) at codon 187. |
2017-09-22 |
2023-08-13 |
Not clear |
| Kristofer Andersson, Göran Dahllöf, Katarina Lindahl, Andreas Kindmark, Giedre Grigelioniene, Eva Åström, Barbro Malmgre. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. PloS one. vol 12. issue 5. 2017-09-14. PMID:28498836. |
in the individuals with a col1a2 mutation, 80% (8/10) of those with a glycine substitution located c terminal of p.gly211 exhibited dgi in both dentitions while no individual (0/5) with a mutation n-terminal of this point (p = 0.007) exhibited dgi in either dentition. |
2017-09-14 |
2023-08-13 |
Not clear |
| Masaki Takagi, Hiroyuki Shinohara, Satoshi Narumi, Gen Nishimura, Yukihiro Hasegawa, Tomonobu Hasegaw. Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2. American journal of medical genetics. Part A. vol 167. issue 7. 2016-03-17. PMID:25858481. |
we report on a unique case of severe oi, a long term survivor of lethal type ii oi, rather than progressively deforming type iii, due to double substitutions of glycine residues in col1a2 (p.gly208glu and p.gly235asp), located on the same allele. |
2016-03-17 |
2023-08-13 |
Not clear |
| Masaki Takagi, Hiroyuki Shinohara, Satoshi Narumi, Gen Nishimura, Yukihiro Hasegawa, Tomonobu Hasegaw. Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2. American journal of medical genetics. Part A. vol 167. issue 7. 2016-03-17. PMID:25858481. |
we show for the first time that double col1a2 glycine substitution mutations located near the amino-terminal triple helical region, which individually are likely to result in mild oi, cause severe oi in combination. |
2016-03-17 |
2023-08-13 |
Not clear |
| Masaki Takagi, Hiroyuki Shinohara, Satoshi Narumi, Gen Nishimura, Yukihiro Hasegawa, Tomonobu Hasegaw. Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2. American journal of medical genetics. Part A. vol 167. issue 7. 2016-03-17. PMID:25858481. |
severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in col1a2. |
2016-03-17 |
2023-08-13 |
Not clear |
| Masaki Takagi, Hiroyuki Shinohara, Satoshi Narumi, Gen Nishimura, Yukihiro Hasegawa, Tomonobu Hasegaw. Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2. American journal of medical genetics. Part A. vol 167. issue 7. 2016-03-17. PMID:25858481. |
to the best of our knowledge, this is the first example of a patient with double col1a2 glycine substitution mutations on the same allele. |
2016-03-17 |
2023-08-13 |
Not clear |
| Miriam S Reuter, Georg C Schwabe, Christian Ehlers, Christoph Marschall, André Reis, Christian Thiel, Luitgard Graul-Neuman. Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders. European journal of medical genetics. vol 56. issue 12. 2014-07-16. PMID:24140640. |
the patient carried a heterozygous c.1316g > a (p.gly439asp) mutation in the col1a2 gene located in a triple-helix region, in which glycine substitutions have been assumed to cause perinatal lethal oi (sillence type ii). |
2014-07-16 |
2023-08-12 |
Not clear |
| C P Chen, S P Lin, Y N Suo, S R Chern, J W Su, W Wan. Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III. Genetic counseling (Geneva, Switzerland). vol 23. issue 3. 2012-11-20. PMID:23072183. |
oi types ii-iv are associated with mutations in col1a1 or col1a2 and mostly are due to glycine substitutions. |
2012-11-20 |
2023-08-12 |
Not clear |
| Zhen-Lin Zhang, Hao Zhang, Yao-hua Ke, Hua Yue, Wen-Jin Xiao, Jin-Bo Yu, Jie-Mei Gu, Wei-Wei Hu, Chun Wang, Jin-Wei He, Wen-Zhen F. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. Journal of bone and mineral metabolism. vol 30. issue 1. 2012-05-14. PMID:21667357. |
among the 56 causative col1a1 and col1a2 mutations, 24 novel mutations were found, and 25 (44.6%) resulted in the substitution of a glycine within the gly-x-y triplet domain of the triple helix. |
2012-05-14 |
2023-08-12 |
Not clear |
| Moira S Cheung, Heidi Arponen, Peter Roughley, Michel E Azouz, Francis H Glorieux, Janna Waltimo-Sirén, Frank Rauc. Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. vol 26. issue 2. 2011-04-28. PMID:20721936. |
skull base abnormalities were present in 6% of patients with haploinsufficiency (frameshift or nonsense) mutations, in 43% of patients with helical glycine substitutions caused by col1a1 mutations, in 32% of patients with helical glycine substitutions owing to col1a2 mutations, and in 17% of patients with splice-site mutations affecting either col1a1 or col1a2. |
2011-04-28 |
2023-08-12 |
human |
| Eissa Faqeih, Peter Roughley, Francis H Glorieux, Frank Rauc. Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. American journal of medical genetics. Part A. vol 149A. issue 3. 2009-04-16. PMID:19208385. |
in all of these patients, oi was caused by glycine mutations affecting exon 49 of the col1a2 gene, which codes for the most carboxy-terminal part of the triple-helical domain of the collagen type i alpha 2 chain. |
2009-04-16 |
2023-08-12 |
Not clear |
| Zhuo Wang, Dong-liang Xu, Zheng Chen, Jun-yong Hu, Zheng Yang, Lian-tang Wan. [A new mutation in COL1A1 gene in a family with osteogenesis imperfecta]. Zhonghua yi xue za zhi. vol 86. issue 3. 2008-02-27. PMID:16638323. |
osteogenesis imperfecta (oi) is a congenital disease of connective tissue of increased bone fragility and low bone mass, most often caused by single amino acid substitution of glycine residues in the collagen, type i, alpha 1 protein (col1a1) gene or the collagen, type i, alpha 2 protein (col1a2) gene, encoding type i procollagen chains. |
2008-02-27 |
2023-08-12 |
Not clear |
| Kwang-Soo Lee, Hae-Ryong Song, Tae-Joon Cho, Hyon J Kim, Tae-Mi Lee, Hyun-Seok Jin, Hyun-Young Park, Seongman Kang, Sung-Chul Jung, Soo Kyung Ko. Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. Human mutation. vol 27. issue 6. 2006-06-26. PMID:16705691. |
among the 35 kinds of detected mutations, 15 were glycine substitutions (seven in col1a1 and eight in col1a2), one was a nonsense mutation, four were frameshift mutations in col1a1, three were in-frame duplications in col1a2, and 12 were splice site mutations (seven in col1a1 and five in col1a2). |
2006-06-26 |
2023-08-12 |
Not clear |