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| 1 | Ankylosing spondylitis: etiology, pathogenesis, and treatments显示文摘Ankylosing spondylitis(AS), a common type of spondyloarthropathy, is a chronic inflammatory autoimmune disease that mainly affects spine joints, causing severe, chronic pain;additionally, in more advanced cases, it can cause spine fusion. Significant progress in its pathophysiology and treatment has been achieved in the last decade. Immune cells and innate cytokines have been suggested to be crucial in the pathogenesis of AS, especially human leukocyte antigen(HLA)?B27 and the interleukin?23/17 axis.However, the pathogenesis of AS remains unclear. The current study reviewed the etiology and pathogenesis of AS, including genome-wide association studies and cytokine pathways. This study also summarized the current pharmaceutical and surgical treatment with a discussion of future potential therapies. | Wei Zhu Xuxia He Kaiyuan Cheng Linjie Zhang Di Chen Xiao Wang Guixing Qiu Xu Cao Xisheng Weng | 2019 | Bone Research2019，7，3： | 30 |
| 2 | Long term follow up of clinical outcome between patellar resurfacing and nonresurfacing in total knee arthroplasty: Chinese experience显示文摘 | Feng Bin Weng Xisheng Lin Jin Jin Jin Qian Wenwei Wang Wei Qiu Guixing | 2014 | Chinese Medical Journal2014，，22： | 7 |
| 3 | Filamin B:The next hotspot in skeletal research?显示文摘Filamin B(FLNB)is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure.Up to present,pathogenic mutations in FLNB are solely found to cause skeleta deformities,indicating the important role of FLNB in skeletal development.FLNB-related disorders are classifiedasspondylocarpotarsalsynostosis(SCT),Larsensyndrome(LS),atelosteogenesis(AO)boomerang dysplasia(BD),and isolated congenital talipes equinovarus,presenting with scoliosis,shortlimbed dwarfism,clubfoot,joint dislocation and other unique skeletal abnormalities.Several mecha?nisms of FLNB mutations causing skeletal malformations have been proposed,including delay of ossification in long bone growth plate,reduction of bone mineral density(BMD),dysregulation of muscle differentiation,ossification of intervertebral disc(IVD),disturbance of proliferation,differentiation and apoptosis in chondrocytes,impairment of angiogenesis,and hypomotility of osteoblast,chondrocyte and fibroblast.Interventions on FLNB-related diseases require prenatal surveillance by sonography,gene testing in high-risk carriers,andproper orthosis or orthopedic surgeries to correct malformations including scoliosis,cervical spine instability,large joint dislocation,and clubfoot.Gene and cell therapies for FLNB-related diseases are also promising but require further studies. | Qiming xu Nan Wu Lijia Cui Zhihong Wu Guixing Qiu | 2017 | Journal of Genetics and Genomics2017，44，7： | 5 |
| 4 | Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature显示文摘Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clinical genetic testing in short stature has been implicated,the genetic architecture and the utility of genomic studies such as exome sequencing(ES)in a sizable cohort of patients with short stature have not been investigated systematically.In this study,we recruited 561 individuals with short stature from two centers in China during a 4-year period.We performed ES for all patients and available parents.All patients were retrospectively divided into two groups:an isolated short stature group(group I,n=257)and an apparently syndromic short stature group(group II,n=304).Causal variants were identified in 135 of 561(24.1%)patients.In group I,29 of 257(11.3%)of the patients were solved by variants in 24 genes.In group II,106 of 304(34.9%)patients were solved by variants in 57 genes.Genes involved in fundamental cellularprocess played an important role in the genetic architecture of syndromic short stature.Distinct genetic architectures and pathophysiological processes underlie isolated and syndromic short stature. | Xin Fan Sen Zhao Chenxi Yu Di Wu Zihui Yan Lijun Fan Yanning Song Yi Wang Chuan Li Yue Ming Baoheng Gui Yuchen Niu Xiaoxin Li Xinzhuang Yang Shiyu Luo Qiang Zhang Xiuli Zhao Hui Pan Mei Li Weibo Xia Guixing Qiu Pengfei Liu Shuyang Zhang Jianguo Zhang Zhihong Wu James R.Lupski Jennifer E.Posey Shaoke Chen Chunxiu Gong Nan Wu | 2021 | Journal of Genetics and Genomics2021，48，5： | 2 |
| 5 | Medical Additive Manufacturing: From a Frontier Technology to the Research and Development of Products显示文摘1.Research and development(R&D)and the challenges of raw materials for medical additive manufacturing Raw materials for medical additive manufacturing have a wide range of commonalities that are also seen in many other fields,making them an important basis in the field of three-dimensional(3D)printing.Problems and challenges related to material types,powder properties,formability,viscoelasticity,and so forth also share common features.For example,many metal materials are used in the field of aviation,while metals,polymers,and inorganic materials are used in the field of biomedicine.The most widely used materials in biomedicine are biocompatible.Various homogeneous and non-homogeneous composites are also available for 3D printing,and impose an additional challenge in additive manufacturing;the use of heterogeneous composites in 3D printing is particularly challenging. | Guixing Qiu Wenjiang Ding Wei Tian Ling Qin Yu Zhao Lianmeng Zhang Jian Lu Daijie Chen Guangyi Yuan Chengtie Wu Bingheng Lu Ruxu Du Jimin Chen Mo Elbestawi Zhongwei Gu Dichen Li Wei Sun Yuanjin Zhao Jie He Dadi Jin Bin Liu Kai Zhang Jianmo Li Kam WLeong Dewei Zhao Dingjun Hao Yingfang Ao Xuliang Deng Huilin Yang ShaoKeh Hsu Yingqi Chen Long Li Jianping Fan Guohui Nie Yun Chen Hui Zeng Wei Chen Yuxiao Lai | 2020 | Engineering2020，6，11： | 1 |
| 6 | Expression of transforming growth factor and basic fibroblast growth factor and core protein of proteoglycan in human vertebral cartilaginous endplate of adolescent idiopathic scoliosis显示文摘 | Xu Hongguang Qiu Guixing Wu Zhibong | 2005 | Spine2005，30，： | 1 |
| 7 | Advances in clinical genetics and genomics显示文摘Developments in genetics and genomics are progressing at an unprecedented speed.Twenty years ago,the human genome project provided the first glimpses into the human genome sequence and launched a new era of human genetics.The emerging of next-generation sequencing(NGS)in 2005 then made possible comprehensive genetic testing such as exome sequencing and genome sequencing.Meanwhile,great efforts have been put into the optimization of bioinformatic pipelines to make increasingly speedy and accurate variant analyses based on NGS data.These advances in sequencing technologies and analytical methods have revolutionized the diagnostic odyssey of suspected hereditary diseases.More recently,the genotype-phenotype relationship and polygenic risk scores(PRSs)generated from genome-wide association studies have expanded our horizon from rare genetic mutations to a genomic landscape implicated by the combined effect of both rare variants and polymorphisms.At the same time,clinicians and genetic counselors are facing huge challenges conferred by overwhelming genomic knowledge and long sheets of testing reports for comprehensive genomic sequencing.The path toward the“next-generation”clinical genetics and genomics may underlie semiautomatic pipelines assisted by artificial intelligence techniques. | Sen Zhao Xi Cheng Wen Wen Guixing Qiu Terry Jianguo Zhang Zhihong Wu Nan Wu | 2021 | Intelligent Medicine2021，1，3： | 0 |
| 8 | The identification of PAX7 variants and a potential role of muscle development dysfunction in congenital scoliosis显示文摘Dear Editor,Congenital scoliosis(CS)is a spinal malformation charac-terized by failure of vertebral formation or segmentation,or a mix of these deformities,resulting in longitudinal and rotational imbalance,and affects 0.05-0.1%of new-borns(Wu et al.2015).It is generally understood that the development of CS has an underlying genetic basis.Specifically,genes related to somite regulation or osteo-genesis during embryonic development are believed to be responsible for the vertebral malformations observed in CS patients(Pourquie 2011). | Muchuan Wang Ziquan Li Sen Zhao Zhifa Zheng Yipeng Wang Guixing Qiu Zhihong Wu Nan Wu Terry Jianguo Zhang Siyi Cai | 2022 | Cell Regeneration2022，11，1： | 0 |
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