[1]田园 季卫锋 朱周玮 沈景.石骨症发病机制及相关基因研究进展[J].中国中医骨伤科杂志,2021,29(06):85-88.
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石骨症发病机制及相关基因研究进展()
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《中国中医骨伤科杂志》[ISSN:1005-0205/CN:42-1340/R]

卷:
第29卷
期数:
2021年06期
页码:
85-88
栏目:
文献综述
出版日期:
2021-06-15

文章信息/Info

文章编号:
1005-0205(2021)06-0085-04
作者:
田园1 季卫锋2 朱周玮1 沈景2
1浙江中医药大学第一临床医学院(杭州,310053)2浙江省中医院
关键词:
石骨症 发病机制 基因 研究进展
分类号:
R681
文献标志码:
A

参考文献/References:


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[7] SOBACCHI C,SCHULZ A,COXON F P,et al.Osteopetrosis:genetics treatment and new insights into osteoclast function[J].Nat Rev Endocrinol,2013,9(9):522-536.
[8] 周绪昌,曹红,邹军,等.SNX10基因突变对常染色体隐性骨质硬化症及其并发症的影响[J].生命科学,2019,31(6):596-601.
[9] 宋玉文,徐晓杰,吕芳,等.CLCN7基因突变致常染色体显性遗传性骨硬化症:1例家系研究[J].中华骨质疏松和骨矿盐疾病杂志,2017,10(4):328-335.
[10] ZHANG X Y,WEI Z Y,HE J,et al.Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type Ⅱ(ADOⅡ)and intermediate autosomal recessive osteopetrosis(ARO)in seven Chinese families[J].Postgraduate Medicine,2017,129(8):934-942.
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[14] 欧明林,薛雯,邹同祥,等.应用全外显子组测序技术筛查罕见石骨症致病基因[J].国际检验医学杂志,2018,39(1):10-13.
[15] ORCHARD P J,FASTH A L,LE RADEMACHER J,et al. Hematopoietic stem cell transplantation for infantile osteopetrosis[J].Blood,2015,126(2):270-276.
[16]KULPIYA A,MAHACHOKLERTWATTANA P,PAKAKASAMA S,et al.Hypercalcemia and altered biochemical bone markers in post-bone marrow transplantation osteopetrosis:a case report and literature review[J].Pediatric Transplantation,2012,16(5):140-145.
[17] PALAGANO E,MENALE C,SOBACCHI C,et al.Genetics of osteopetrosis[J].Curr Osteoporos Rep,2018,16(1):13-25.
[18] IMRANUL A,GRAY A K,ACTON D,et al.Interferon gamma,but not calcitriol improves the osteopetrotic phenotypes in ADO2 mice[J].Journal of Bone and Mineral Research,2015,30(11):2005-2013.
[19] MOSCATELLI I,L?FVALL H,THUDIUM C S,et al.Targeting NSG mice engrafting cells with a clinically applicable lentiviral vector corrects osteoclasts in infantile malignant osteopetrosis[J].Hum Gene Ther,2018,29(8):938-949.
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备注/Memo

备注/Memo:
基金项目:国家自然科学基金项目(81974576)
更新日期/Last Update: 2021-06-15