BoneKEy reports最新文献_第5页

Value of rare low bone mass diseases for osteoporosis genetics. 罕见低骨量病对骨质疏松症遗传学的价值。

BoneKEy reports Pub Date : 2016-01-06 eCollection Date: 2016-01-01 DOI: 10.1038/bonekey.2015.143

Alice Costantini, Outi Mäkitie

{"title":"Value of rare low bone mass diseases for osteoporosis genetics.","authors":"Alice Costantini, Outi Mäkitie","doi":"10.1038/bonekey.2015.143","DOIUrl":"10.1038/bonekey.2015.143","url":null,"abstract":"Osteoporosis presents as increased susceptibility to fractures due to bone loss and compromised bone microstructure. Osteoporosis mainly affects the elderly population, but it is increasingly recognized that compromised bone health with low bone mass and increased fractures may have its onset already in childhood. In such cases, genetic component is likely to contribute more than lifestyle factors to disease onset. During the last decade, our understanding of the genetic determinants of osteoporosis has significantly increased through family studies, candidate gene studies and genome-wide association studies (GWASs). GWASs have led to identification of several genetic loci associated with osteoporosis. A valuable contribution to the research field has been made through studies involving families with childhood-onset rare bone diseases such as osteogenesis imperfecta, osteoporosis-pseudoglioma syndrome and various other skeletal dysplasias with reduced bone mass. Some genes involved in rare low bone mass diseases, such as LRP5 and WNT1, participate in the Wnt/β-catenin pathway, and their discovery has underscored the importance of this pathway for normal skeletal health. The still continuing discovery of gene defects underlying various low bone mass phenotypes contributes to our understanding of normal bone metabolism and enables development of new therapies for osteoporosis. ","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":"5 1","pages":"773"},"PeriodicalIF":0.0,"publicationDate":"2016-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1038/bonekey.2015.143","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58484103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 11

Skeletal stem cells for bone development, homeostasis and repair: one or many? 用于骨骼发育、体内平衡和修复的骨骼干细胞:一个还是多个?

BoneKEy reports Pub Date : 2015-12-23 DOI: 10.1038/bonekey.2015.139

L. Mortensen, W. Hill

引用次数: 5

Role of Irisin on the bone-muscle functional unit. 鸢尾素对骨骼肌功能单位的作用。

BoneKEy reports Pub Date : 2015-12-23 DOI: 10.1038/bonekey.2015.134

G. Colaianni, M. Grano

引用次数: 44

Treatment of bone marrow lesions (bone marrow edema). 治疗骨髓病变（骨髓水肿）。

BoneKEy reports Pub Date : 2015-11-25 eCollection Date: 2015-01-01 DOI: 10.1038/bonekey.2015.124

Erik F Eriksen

引用次数: 0

Bone mineral density and cardiovascular risk factors in postmenopausal women with coronary artery disease. 绝经后冠心病妇女的骨密度与心血管危险因素

BoneKEy reports Pub Date : 2015-11-11 DOI: 10.1038/bonekey.2015.127

E. Alissa, Wafa A. Alnahdi, N. Alama, G. Ferns

引用次数: 11

Sclerostin inhibits osteoblast differentiation without affecting BMP2/SMAD1/5 or Wnt3a/β-catenin signaling but through activation of platelet-derived growth factor receptor signaling in vitro. 在体外研究中，Sclerostin不影响BMP2/SMAD1/5或Wnt3a/β-catenin信号，而是通过激活血小板来源的生长因子受体信号来抑制成骨细胞分化。

BoneKEy reports Pub Date : 2015-11-04 DOI: 10.1038/bonekey.2015.126

C. Thouverey, J. Caverzasio

引用次数: 21

Genetics of Paget's disease of bone. 帕吉特骨病的遗传学。

BoneKEy reports Pub Date : 2015-11-04 eCollection Date: 2015-01-01 DOI: 10.1038/bonekey.2015.125

Omar Me Albagha

{"title":"Genetics of Paget's disease of bone.","authors":"Omar Me Albagha","doi":"10.1038/bonekey.2015.125","DOIUrl":"10.1038/bonekey.2015.125","url":null,"abstract":"Paget's disease of bone (PDB) is a common metabolic bone disease characterised by focal areas of increased bone turnover, which primarily affects people over the age of 55 years. Genetic factors have a fundamental role in the pathogenesis of PDB and are probably the main predisposing factor for the disease. The genetic contribution to PDB susceptibility ranges from rare pathogenic mutations in the single gene SQSTM1 to more common, small effect variants in at least seven genetic loci that predispose to the disease. These loci have additive effects on disease susceptibility and interact with SQSTM1 mutations to affect disease severity, making them a potentially useful tool in predicting disease risk and complication and in managing treatments. Many of these loci harbour genes that have important function in osteoclast differentiation such as CSF1, DCSTAMP and TNFRSF11A. Other susceptibility loci have highlighted new molecular pathways that have not been previously implicated in regulation of bone metabolism such as OPTN, which was recently found to negatively regulate osteoclast differentiation. PDB-susceptibility variants exert their effect either by affecting the protein coding sequence such as variants found in SQSTM1 and RIN3 or by influencing gene expression such as those found in OPTN and DCSTAMP. Epidemiological studies indicate that environmental triggers also have a key role in PDB and interact with genetic factors to influence manifestation and severity of the disease; however, further studies are needed to identify these triggers. ","PeriodicalId":72441,"journal":{"name":"BoneKEy reports","volume":"4 1","pages":"756"},"PeriodicalIF":0.0,"publicationDate":"2015-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4635861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58484005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mechanisms of osteolytic and osteoblastic skeletal lesions. 骨溶解和成骨细胞骨骼病变的机制。

BoneKEy reports Pub Date : 2015-10-28 DOI: 10.1038/bonekey.2015.122

G. David Roodman, R. Silbermann

引用次数: 57

Bone antiresorptive agents in the treatment of bone metastases associated with solid tumours or multiple myeloma. 骨抗吸收剂治疗与实体瘤或多发性骨髓瘤相关的骨转移。

BoneKEy reports Pub Date : 2015-10-07 eCollection Date: 2015-01-01 DOI: 10.1038/bonekey.2015.113

Evangelos Terpos, Cyrille B Confavreux, Philippe Clézardin

引用次数: 17

Communication of bone cells with hematopoiesis, immunity and energy metabolism. 骨细胞与造血、免疫和能量代谢的通讯。

BoneKEy reports Pub Date : 2015-10-07 eCollection Date: 2015-01-01 DOI: 10.1038/bonekey.2015.117

Noboru Asada, Mari Sato, Yoshio Katayama

引用次数: 12