Carol Wise教授来北京协和医院访问交流
Dr. Carol Wise, the director of molecular genetics and basic research at Scottish Rite Hospital, Texas, USA, visited Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH) on April 10th 2018.
TBX6基因多态性与先天性脊柱侧凸相关
The single SNP analysis showed allele frequency of rs2289292 (exon 8, the only tagging SNP) and rs3809624 (5’untranslated region) demonstrated significant difference between CS cases and controls (P = 0.017 and P = 0.033)，which suggests genetic variants of TBX6 gene is associated with CS.
GPR126在青少年特发性脊柱侧凸中基因多态性及PUMC分型关联性研究
GPR126 has been identified to be associated with AIS (Adolescent Idiopathic Scoliosis) in different populations, but data on the northern Chinese population are unavailable. Additionally, it is important to know the exact clinical phenotypes associated with specific genetic polymorphisms.
吴南博士受邀参加第三届国际罕见病研究联盟会议并发言
On February 9th, 2017, Dr. Nan Wu was invited to give an oral presentation at the annual meeting of International Rare Diseases Research Consortium (IRDiRC) at Paris, France. He introduced our findings about TBX6 gene discovery in world-wide congenital scoliosis patient cohorts.
吴南博士受邀在日本骨与矿物质研究协会年会发表演讲
On July 27th, 2017, Dr. Nan Wu was invited to present at the the 35th annual meeting of Japanese Society for Bone and Mineral Research (JSBMR), Fukuoka, Japan. He introduced our work about an undefined subtype of congenital scoliosis.
吴志宏教授受邀在中国医学科学院建院六十周年纪念大会上介绍DISCO研究
Professoer Zhihong Wu was invited to the 60th year anniversary of Chinese Academy of Medical Sciences (CAMS). His introduced the DISCO project as well as our previously work focusing on scoliosis phenotype. On the other hand, he also described our contribution to the development of genetic diagnostic strategies of scoliosis
我们总结了VACTERL相关椎体畸形的基因全景和临床应用
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals.
通过蛋白组学分析，我们揭示了先天性脊柱侧凸的潜在蛋白标记
This study is the first proteomic research to delineate the total and differential serum proteins in TBX6 haploinsufficiency-caused CS. The proteins discovered in this experiment may serve as potential biomarkers for CS, and lipid metabolism might play important roles in the pathogenesis of CS.
吴南博士受邀在加拿大Mount Sinai 医院发表演讲
Dr. Nan Wu was invited to present at the Mount Sinai Hospital, Toronto, Canada, where he introduced the genetic studies of bone and joint disease of PUMCH On October 24th, 2016.
TBX6基因罕见突变联合常见亚效等位基因导致先天性脊柱侧凸的遗传学模型
TBX6基因罕见突变联合常见亚效等位基因导致先天性脊柱侧凸的遗传学模型 Generally, the mole […]
