Genetic polymorphisms of GPR126 are functionally associated with PUMC classifications of adolescent idiopathic scoliosis
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.
Dr. Nan Wu was invited to speak at the 3rd International Rare Diseases Research Consortium (IRDiRC)
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.
Dr. Nan Wu was invited to give a lecture at the annual meeting of the Japanese Society for Bone and Mineral Research (JSBMR)
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.
Professor Zhihong Wu was invited to introduce the DISCO project in the 60th year anniversary of Chinese Academy of Medical Sciences (CAMS), Beijing, China
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
We summarized the genetic landscape and clinical implications of vertebral anomalies in VACTERL association
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals.
We summarized the key role of TBX6 gene plays in the spine development, through interaction with three main signal pathways contributing to congenital scoliosis
We summarized the key role of TBX6 gene plays in the spine development, through interaction with three main signal pathways contributing to congenital scoliosis Congenital vertebral malformation is a series of significant health problems affecting a large number of populations. It may present as an isolated condition or as a part of an underlying syndromes […]
Through proteomic analysis, we revealed potential protein biomarkers for CS
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.
Dr. Nan Wu was invited to give a lecture at Mount Sinai Hospital, Toronto, Canada
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.
The genetic model of rare variant together with common hypomorphic allele of TBX6 involving in the pathogenesis of congenital scoliosis
The genetic model of rare variant together with common hypomorphic allele of TBX6 involving in the pathogenesis of congenital scoliosis Generally, the molecular mechanism of human mendelian disorders associated with heterozygous gene deletions or null mutations is haploinsufficiency, in which half the gene dosage is not sufficient for normal function. In contrast, the effect of […]
The compound inheritance of TBX6 causing congenital scoliosis was discovered
The compound inheritance of TBX6 causing congenital scoliosis was discovered A genomewide analysis of copy-number variants was performed in 20 trios (consisting of a person with sporadic congenital scoliosis and two healthy parents). We identified recurrent deletions in proximal 16p11.2 in two persons (Patient XH004 and Patient XH042). Both of these heterozygous deletions were de […]
