Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5685049 | Translational Research | 2017 | 21 Pages |
Abstract
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood as a collagen-related disorder. During the last decade, research has made remarkable progress in identifying new OI-causing genes and beginning to understand the intertwined molecular and biochemical mechanisms of their gene products. Most cases of OI have dominant inheritance. Each new gene for recessive OI, and a recently identified gene for X-linked OI, has shed new light on its (often previously unsuspected) function in bone biology. Here, we summarize the literature that has contributed to our current understanding of the pathogenesis of OI
Keywords
ECMPDIEDSMSCsCRISPR-Cas9RUNX2RANKLbZIPTRAPRyRUPRXBP1cKOS1PATF6IP3RBMP2Wnt1DXAS2POPGPEDFDKK1ADAMTSGRP94PPIaseSREBPsFPRPCOL1A1RERCol1a2HIF1αMBTPS1TGFBR2SPARCBMDDcyclophilin BTRICPLOD2BMP1mTldTRACP-5bHRD1Sterol regulatory element binding proteinsHSP47LH1CREB3L1KLF10Procollagen type IIITGF-βA disintegrin and metalloprotease with thrombospondin motifsCyPBIFAPinositol-requiring enzyme 1 alphaKruppel-like factor 10protein disulfide-isomerasetransforming growth factor beta receptor 2BiPBV/TVIRE1αLRP5/6peptidyl-prolyl cis–trans isomeraseAtglOsteoprotegerinTartrate-resistant acid phosphatase 5btartrate-resistant acid phosphataseCSAOsteogenesis imperfectaTransforming Growth Factor Betabone mineralization density distributiontumor necrosis factor alphadual-energy X-ray absorptiometrybasic leucine zipperSite-2 proteaseSite-1 proteaseMesenchymal stem cellsEhlers-Danlos syndromecyclosporin Aendoplasmic reticulumrough endoplasmic reticulumconditional knockoutDickkopf 1FTIRFourier transform infrared spectroscopyhypoxia inducible factor 1 alpharunt related transcription factor 2Pigment epithelium-derived factorTNF-αtransmembraneactivating transcription factor 6adipose triglyceride lipaseExtracellular matrixUTR یا untranslated regions untranslated regionOasisRIPUnfolded protein responseregulated intramembrane proteolysisX-box binding protein 1Binding immunoglobulin Proteinsecreted protein, acidic and rich in cysteineHeat shock protein 47bone morphogenetic protein-1bone morphogenetic protein 2Prolyl 4-hydroxylaseGlucose regulated protein 94Ryanodine receptorinositol 1,4,5-trisphosphate receptorsreceptor activator of nuclear factor kappa-B ligand
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Authors
Heeseog Kang, Smriti Aryal A.C., Joan C. Marini,