TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

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TACS is a clinically distinguishable entity with consistent clinically measurable endophenotypes. The type and distribution of vertebral column abnormalities in TBX6/Tbx6 compound inheritance implicate subtle perturbations in gene dosage as a cause of spine developmental birth defects responsible for about 10% of CS.

Continue ReadingTBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Dr. Shiro Ikegawa Visited Peking Union Medical College Hospital

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On September 2, Dr. Shiro Ikegawa, the director of laboratory of Bone and Joint Diseases, RIKEN center for Intergrative Medical Sciences, Tokyo, Japan, paid a visit to Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH) and gave a lecture at the PUMCH Academic Salon Series in scholarism auditorium of PUMCH.

Continue ReadingDr. Shiro Ikegawa Visited Peking Union Medical College Hospital
Read more about the article The Coexistence of Copy Number Variations (CNVs) and Single Nucleotide Polymorphisms (SNPs) at a Locus can Result in Distorted Calculations of the Significance in Associating SNPs to Disease
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The Coexistence of Copy Number Variations (CNVs) and Single Nucleotide Polymorphisms (SNPs) at a Locus can Result in Distorted Calculations of the Significance in Associating SNPs to Disease

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With the recent advance in genome-wide association studies (GWAS), disease-associated single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) have been extensively reported. Accordingly, the issue of incorrect identification of recombination events that can induce the distortion of multi-allelic or hemizygous variants has received more attention.

Continue ReadingThe Coexistence of Copy Number Variations (CNVs) and Single Nucleotide Polymorphisms (SNPs) at a Locus can Result in Distorted Calculations of the Significance in Associating SNPs to Disease
Read more about the article Perturbations of BMP/TGF-β and VEGF/VEGFR signaling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
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Perturbations of BMP/TGF-β and VEGF/VEGFR signaling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

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Brain arteriovenous malformations (BAVM) represent a congenital anomaly of the cerebral vessels with a prevalence of 10–18/100 000. BAVM is the leading aetiology of intracranial haemorrhage in children. Our objective was to identify gene variants potentially contributing to disease and to better define the molecular aetiology underlying non-syndromic sporadic BAVM.

Continue ReadingPerturbations of BMP/TGF-β and VEGF/VEGFR signaling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

2018 Forum for Genetics and Epigenetics of Skeletal Associated Disorders

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On May 5th, 2018, DISCO study group held 2018 Forum for Genetics and Epigenetics of Skeletal Associated Disorders in Beijing, China. Professor Guixing Qiu, a senior member of the Chinese Academy of Engineering was the chairperson of the 2018 Forum for Genetics and Epigenetics of Skeletal Associated Disorders. Dr. Zhihong Wu, Dr. Nan Wu and Dr. Jianzhong Su were co-executive chairpersons of this forum. The forum lasted for 2 days.

Continue Reading2018 Forum for Genetics and Epigenetics of Skeletal Associated Disorders

We present DISCO project at the International Consortium for Spinal Genetics, Development and Disease (ICSGDD) meeting, Shenzhen/Guangzhou, China

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On April 6th, 2018, Dr. Nan Wu was invited to give a key note lecture at the 2nd annual meeting of International Consortium for Spinal Genetics, Development and Disease (ICSGDD; formerly ICSG and ICVAS), Shenzhen, China.

Continue ReadingWe present DISCO project at the International Consortium for Spinal Genetics, Development and Disease (ICSGDD) meeting, Shenzhen/Guangzhou, China

Genetic polymorphisms of GPR126 are functionally associated with PUMC classifications of adolescent idiopathic scoliosis

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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.

Continue ReadingGenetic polymorphisms of GPR126 are functionally associated with PUMC classifications of adolescent idiopathic scoliosis