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Rheumatoid arthritis and osteogenesis imperfecta: is there a genetic causal association?

作者信息

Mormile Ilaria, Russo Roberta, Andolfo Immacolata, de Paulis Amato, Rossi Francesca Wanda, Rendina Domenico

机构信息

Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.

Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.

出版信息

Osteoporos Int. 2022 Oct;33(10):2233-2235. doi: 10.1007/s00198-022-06486-9. Epub 2022 Aug 19.

DOI:10.1007/s00198-022-06486-9
PMID:35984462
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9546962/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8bba/9546962/2ee1c7c8dbd6/198_2022_6486_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8bba/9546962/2ee1c7c8dbd6/198_2022_6486_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8bba/9546962/2ee1c7c8dbd6/198_2022_6486_Fig1_HTML.jpg

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Rheumatoid arthritis and osteogenesis imperfecta: is there a genetic causal association?类风湿关节炎与成骨不全症：是否存在遗传因果关联？
Osteoporos Int. 2022 Oct;33(10):2233-2235. doi: 10.1007/s00198-022-06486-9. Epub 2022 Aug 19.
2
Osteogenesis imperfecta and rheumatoid arthritis: is there a link?成骨不全症和类风湿性关节炎：二者有关联吗？
Arch Osteoporos. 2020 Mar 6;15(1):40. doi: 10.1007/s11657-020-0681-3.
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Why me? The role of genes in human disease.为什么是我？基因在人类疾病中的作用。
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本文引用的文献

1
Osteogenesis imperfecta and rheumatoid arthritis: is there a link?成骨不全症和类风湿性关节炎：二者有关联吗？
Arch Osteoporos. 2020 Mar 6;15(1):40. doi: 10.1007/s11657-020-0681-3.
2
Endoplasmic reticulum stress cooperates with Toll-like receptor ligation in driving activation of rheumatoid arthritis fibroblast-like synoviocytes.内质网应激与 Toll 样受体配体协同作用，驱动类风湿关节炎成纤维样滑膜细胞的激活。
Arthritis Res Ther. 2017 Sep 18;19(1):207. doi: 10.1186/s13075-017-1386-x.
3
Osteogenesis imperfecta - A clinical update.成骨不全症——临床更新。
一例神经发育障碍的同卵双胞胎中新发的变异：临床异质性的新见解。
Genes (Basel). 2024 Sep 9;15(9):1184. doi: 10.3390/genes15091184.
4
Calcinosis Cutis and Calciphylaxis in Autoimmune Connective Tissue Diseases.自身免疫性结缔组织病中的皮肤钙质沉着症和钙化防御
Vaccines (Basel). 2023 Apr 25;11(5):898. doi: 10.3390/vaccines11050898.
5
Water from Nitrodi's Spring Induces Dermal Fibroblast and Keratinocyte Activation, Thus Promoting Wound Repair in the Skin: An In Vitro Study.尼卓迪泉水激活皮肤成纤维细胞和角质形成细胞，促进皮肤伤口修复：一项体外研究。
Int J Mol Sci. 2023 Mar 10;24(6):5357. doi: 10.3390/ijms24065357.
Metabolism. 2018 Mar;80:27-37. doi: 10.1016/j.metabol.2017.06.001. Epub 2017 Jun 8.
4
Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.全外显子组测序确定COL1A1基因中的新生突变是严重成骨不全症的病因。
Hum Genomics. 2015 May 10;9(1):6. doi: 10.1186/s40246-015-0028-0.
5
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.RNA剪接。人类剪接密码揭示了对疾病遗传决定因素的新见解。
Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.
6
Nosology and classification of genetic skeletal disorders: 2010 revision.遗传骨骼疾病的命名法和分类：2010 修订版。
Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15.
7
Musculoskeletal manifestations of mild osteogenesis imperfecta in the adult.成人轻度成骨不全的肌肉骨骼表现
Osteoporos Int. 2005 Dec;16(12):1698-702. doi: 10.1007/s00198-005-1905-5. Epub 2005 May 19.
8
Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen.绘制人类最丰富的蛋白质——I型胶原蛋白上的配体结合位点和疾病相关突变图谱。
J Biol Chem. 2002 Feb 8;277(6):4223-31. doi: 10.1074/jbc.M110709200. Epub 2001 Nov 9.