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| 1 | Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment显示文摘A couple with a proband child of GJB2(encoding the gap junction protein connexin 26)-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a customized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagnosis(PGD), noninvasive prenatal testing(NIPT), and noninvasive prenatal diagnosis(NIPD) into the strategy. Auditory and genetic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2 c.235del C heterozygous embryo resulted in a singleton pregnancy. At the 13 th week of gestation, genomic DNA(g DNA) from the trio family and cell-free DNA(cf DNA) from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by invasive procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing impairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders. | XIONG WenPing WANG DaYong GAO Yuan GAO Ya WANG HongYang GUAN Jing LAN Lan YAN JunHao ZONG Liang YUAN Yuan DONG Wei HUANG SeXin WU KeLiang WANG YaoShen WANG ZhiLi PENG HongMei LU YanPing XIE LinYi ZHAO Cui WANG Li ZHANG QiuJing GAO Yun LI Na YANG Ju YIN ZiFang HAN Bing WANG Wei CHEN Zi-Jiang WANG QiuJu | 2015 | Science China(Life Sciences)2015，58，9： | 12 |
| 2 | The role of TGF-beta3 in cartilage development and osteoarthritis显示文摘Articular cartilage serves as a low-friction,load-bearing tissue without the support with blood vessels,lymphatics and nerves,making its repair a big challenge.Transforming growth factor-beta 3(TGF-β3),a vital member of the highly conserved TGF-βsuperfamily,plays a versatile role in cartilage physiology and pathology.TGF-β3 influences the whole life cycle of chondrocytes and mediates a series of cellular responses,including cell survival,proliferation,migration,and differentiation.Since TGF-β3 is involved in maintaining the balance between chondrogenic differentiation and chondrocyte hypertrophy,its regulatory role is especially important to cartilage development.Increased TGF-β3 plays a dual role:in healthy tissues,it can facilitate chondrocyte viability,but in osteoarthritic chondrocytes,it can accelerate the progression of disease.Recently,TGF-β3 has been recognized as a potential therapeutic target for osteoarthritis(OA)owing to its protective effect,which it confers by enhancing the recruitment of autologous mesenchymal stem cells(MSCs)to damaged cartilage.However,the biological mechanism of TGF-β3 action in cartilage development and OA is not well understood.In this review,we systematically summarize recent progress in the research on TGF-β3 in cartilage physiology and pathology,providing up-to-date strategies for cartilage repair and preventive treatment. | Xinmei Du Linyi Cai Jing Xie Xuedong Zhou | 2023 | Bone Research2023，11，1： | 3 |
| 3 | Compliant substratum modulates vinculin expression in focal adhesion plaques in skeletal cells显示文摘The biophysical properties of the extracellular matrix (ECM) dictate tissue-specific cell behaviour.In the skeleton system,bone shows the potential to adapt its architecture and contexture to environmental rigidity via the bone remodelling process,which involves chondrocytes,osteoblasts,osteoclasts,osteocytes and even peripheral bone marrow-derived stem/stromal cells (BMSCs).In the current study,we generated stiff (~1 014 ± 56) kPa,Young’s modulus) and soft (~46 ± 11) kPa silicon-based elastomer polydimethylsiloxane (PDMS) substrates by mixing curing agent into oligomeric base at 1:5 and 1:45 ratios,respectively,and investigated the influence of substrate stiffness on the cell behaviours by characterizing cell spreading area,cell cytoskeleton and cell adhesion capacity.The results showed that the cell spreading areas of chondrocytes,osteoblasts,osteoclasts,osteocytes and BMSCs were all reduced in the soft substrate relative to those in the stiff substrate.F-actin staining confirmed that the cytoskeleton was also changed in the soft group compared to that in the stiff group.Vinculin in focal adhesion plaques was significantly decreased in response to soft substrate compared to stiff substrate.This study establishes the potential correlation between microenvironmental mechanics and the skeletal system,and the results regarding changes in cell spreading area,cytoskeleton and cell adhesion further indicate the important role of biomechanics in the cell-matrix interaction. | Chenchen Zhou Qingxuan Wang Demao Zhang Linyi Cai Wei Du Jing Xie | 2019 | International Journal of Oral Science2019，11，2： | 3 |
| 4 | Osteoporosis-decreased extracellular matrix stiffness impairs connexin 43-mediated gap junction intercellular communication in osteocytes显示文摘Osteocytes are the main sensitive and responsive cells for mechanical stimuli in bone.The connexin family enables them to communicate with each other via forming functional gap junctions.However,how osteoporosis-impaired extracellular mechanical property modulates gap junction intercellular communication in osteocytes remains elusive.In this study,we established an ovariectomy(OVX)-induced osteoporosis mouse model in vivo and a polydimethylsiloxane(PDMS)-based cell culture substrate model in vitro to explore the influence of extracellular matrix(ECM)stiffness on cell-to-cell communication in osteocytes.Firstly,we established an OVX-induced osteoporosis mouse model by characterizing the changes in radiography,morphology and histochemistry of femurs.Our results showed that osteoporosis decreased the bone matrix stiffness together with the changes including the loss of osteocytes and the decrease of protein markers.Meanwhile,the dendritic process interconnection and channel-forming protein,Cx43,were reduced in osteoporosis mice.Next we mimicked ECM stiffness changes in vitro by using PDMS substrates at ratios 1:5 for normal stiffness and 1:45 for osteoporosis stiffness.Our results showed that the decreased ECM stiffness reduced the number of dendritic processes in a single cell and gap junctions between adjacent osteocytes.We further detected the decreased expression of Cx43,in the substrate with decreased stiffness.Finally,we found that gap junction-based intercellular communication was reduced in living osteocytes in the substrate with decreased stiffness.This study demonstrates the correlation between ECM mechanical property and cell-to-cell communication in osteocytes and might pave the way for further exploration of osteoporosis in terms of biomechanics. | Demao Zhang Xin Li Caixia Pi Linyi Cai Yang Liu Wei Du Wenbin Yang Jing Xie | 2020 | Acta Biochimica et Biophysica Sinica2020，52，5： | 3 |
| 5 | A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases显示文摘Dear Editor,Actins are a family of essential cytoskeletal proteins involved in nearly all cellular processes(Lambrechts et al.,2004).Of the six human genes that encode actins,only ACTG1and ACTB are ubiquitously expressed.ACTG1(OMIM#604717),which is linked to the DFNA20/26 locus。 | Hongyang Wang Jing Guan Lan Lan Lan Yu Linyi Xie Xu Liu Ju Yang Cui Zhao Dayong Wang Qiuju Wang | 2018 | Science China(Life Sciences)2018，61，6： | 0 |
| 6 | Novel Porphyrin-Containing Polymer Based Memristor for Synaptic Plasticity Simulation显示文摘The porphyrin-based copolymer PZnTPP-SFX is designed and synthesized by alternating porphyrin and spiro[fluorene-9,9'-xanthene]via Suzuki copolymerization.A simple memristor structure of ITO/ZnTPP-SFX/AlOx/Al was fabricated by spin-coating process.The conventional synaptic plasticity is emulated using the single memristor including nonlinear transmission characteristics,spike-timing dependent plasticity and spike-rate dependent plasticity.New spike-voltage dependent plasticity is also found in the memristor which can selectively perform potentiation and depression behaviors at a unipolar voltage.Compared with the device performance of uncoordinated metalloporphyrin polymer,it was found that oxygen vacancies diffuse and migrate into PZnTPP-SFX layer with the assist of coordination metal.This study suggests that porphyrin-based polymers have great promise for synaptic simulation of artificial neural network. | Linyi Bian Meng Xie Hao Chong Zhewei Zhang Guangyi Liu Qiushuo Han Jiaoyang Ge Zheng Liu Yang Lei Guangwei Zhang Linghai Xie | 2022 | Chinese Journal of Chemistry2022，40，20： | 0 |
| 7 | Roll angle of autocollimator measurement method based on hollow cube corner reflector显示文摘In this paper, a method of measuring roll angle with hollow cube corner reflector(HCCR) is proposed. Firstly, the space coordinate vector relationship between the mirror and the autocollimator is established by using the Euler rotation relationship, and the structure of the HCCR is designed. Secondly, through the actual measurement of the HCCR reflector’s angle sensitivity, the specific formula of roll angle measurement is obtained. The experimental results show that the method can be used to measure the roll angle, and the maximum root mean square(RMS) error is 15' in the range of 350', and the repeatability of the experiment is better than 2.7'. On the basis of retaining the traditional autocollimator, the plane mirror is replaced with HCCR, which realizes the measurement of the roll angle of the autocollimator. This method does not change the internal structure of the autocollimator system, and there is no process error caused by special processing technology, so as to retain the autocollimator’s own long measurement distance, high measurement accuracy, high system stability, and large range of measurement performance, and it can also be used in industrial production. | LIU Yu ZHEN Yan XIE Linyi WANG Wei YANG Jiawen LI Renpu | 2022 | Optoelectronics Letters2022，18，2： | 0 |
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