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Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts

Journal of genetics and genomics 2024年第2期51卷 222-229页

作者： Wenbin Huang Shiying Zhang Jiuxiang Lin Yi Ding Nan Jiang Jieni Zhang Huaxiang Zhao Feng Chen Department of orthodontics Peking University School and Hospital of StomatologyBeijing100081China Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research College of StomatologyXi’an Jiaotong UniversityXi’anShaanxi710004China guangdong Provincial High-level Clinical Key specialty Guangdong Province Engineering Research Center of Oral Disease Diagnosis and TreatmentDepartment of OrthodonticsStomatological CenterPeking University Shenzhen HospitalShenzhen Peking University-The Hong Kong University of Science and Technology Medical CenterShenzhenGuangdong 518036China Department of Physiology and Pathophysiology School of Basic Medical SciencesXi'an Jiaotong UniversityXi'anShaanxi710049China National Center for Stomatology National Clinical Research Center for Oral DiseasesNational Engineering Laboratory for Digital and Material Technology of StomatologyBeijing Key Laboratory for Digital StomatologyResearch Center of Engineering and Technology for Computerized Dentistry Ministry of HealthNMPA Key Laboratory for Dental MaterialsBeijing100101China Central Laboratory Peking University School and Hospital of StomatologyBeijing100081China

orofacial clefts (oFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formation. FLNB mutations have been identified in several types of syndromic oFCs and previous studies suggest a role of FLNB in the onset of non-syndromic oFCs (NSoFCs). Here, we report two rare heterozygous variants (p.P441T and p.g565R) in FLNB in two unrelated hereditary families with NSoFCs. Bioinformatics analysis suggests that both variants may disrupt the function of FLNB. In mammalian cells, p.P441T and p.g565R variants are less potent to induce cell stretches than wild type FLNB, suggesting that they are loss-of-function mutations. Immunohistochemistry analysis demonstrates that FLNB is abundantly expressed during palatal development. Importantly, Flnb^(−/−) embryos display cleft palates and previously defined skeletal defects. Taken together, our findings reveal that FLNB is required for development of palates in mice and FLNB is a bona fide causal gene for NSoFCs in humans.

关键词： or ofacial clefts FLNB Loss-of-function mutati on Cleft palate Filamin B Actin flannent Knockout mouse

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Dengue and falciparum malaria co-infection in travelers returning from Burkina Faso:Report of two cases in Northeastern Italy

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Asian Pacific Journal of Tropical Medicine 2023年第3期16卷 139-142页

作者： Antonio Mastroianni Caterina Vocale Vittorio Sambri Tiziana Lazzarotto Paolo gaibani giada Rossini Stefania Varani Infectious&Tropical Diseases Unit Department of Specialty Medicine“Annunziata”Hub HospitalAzienda Ospedaliera di CosenzaCosenzaItaly Infectious&Tropical Diseases Unit Department of Specialty Medicine“G.B.Morgagni-L.Pierantoni”HospitalForlìItaly Microbiology Unit IRCCS Azienda Ospedaliero-Universitaria di BolognaBolognaItaly Department of Medicine and Surgery University of BolognaBolognaItaly great Romagna Hub Laboratory Unit of MicrobiologyPievesestinaCesenaItaly

Rationale: Malaria and dengue are the most prevalent vector-borne diseases in tropical countries. Plasmodium parasite and dengue virus(DENV) concurrent infection is possible and often under-recognized in geographical areas where these infections are both *** concern and diagnosis: We describe the first two cases of Plasmodium falciparum and DENV-3 co-infection in travelers returning to northeastern Italy from Burkina Faso during ***: Malaria infection in both patients was treated with mefloquine. Due to the persistence of symptoms despite of the antimalaria treatment, dengue was also investigated;the treatment of dengue was ***: The patients were discharged in good general ***: The need for surveillance of potential malaria and dengue co-infection in travelers returning to Europe from endemic areas is highlighted, as infection with Plasmodium does not exclude arboviral co-infection.

关键词： Dengue virus Falciparum malaria Travelers infection Co-infection Arbovirus

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Tailoring the lineshapes of coupled plasmonic systems based on a theory derived from first principles

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Light(Science & Applications) 2020年第1期9卷 510-520页

作者： Jing Lin Meng Qiu Xiyue Zhang Huijie guo Qingnan Cai Shiyi Xiao Qiong He Lei Zhou State Key Laboratory of Surface Physics Key Laboratory of Micro and Nano Photonic Structures(Ministry of Education)and Department of PhysicsFudan UniversityShanghai 200433China Key Laboratory of specialty Fiber optics and optical Access Networks Joint International Research Laboratory of Specialty Fiber Optics and Advanced CommunicationShanghai Institute for Advanced Communication and Data ScienceShanghai UniversityShanghai 200444China Collaborative Innovation Center of Advanced Microstructures Nanjing 210093China

Coupled photonic systems exhibit intriguing optical responses attracting intensive attention,but available theoretical tools either cannot reveal the underlying physics or are empirical in ***,we derive a rigorous theoretical framework from first principles(i.e.,Maxwell’s equations),with all parameters directly computable via wave function integrations,to study coupled photonic systems containing multiple *** calculations against Mie theory reveal the physical meanings of the parameters defined in our theory and their mutual *** testing our theory numerically and experimentally on a realistic plasmonic system,we show how to utilize it to freely tailor the lineshape of a coupled system,involving two plasmonic resonators exhibiting arbitrary radiative losses,particularly how to create a completely“dark”mode with vanishing radiative loss(e.g.,a bound state in continuum).All theoretical predictions are quantitatively verified by our experiments at near-infrared *** results not only help understand the profound physics in such coupled photonic systems,but also offer a powerful tool for fast designing functional devices to meet diversified application requests.

关键词： theory principles radiative

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Enhanced recovery programme in colorectal surgery:Does one size fit all?

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World Journal of gastroenterology 2012年第40期18卷 5661-5663页

作者： Alison Lyon Christopher J Payne graham J MacKay specialty Registrar in general Surgery West of Scotland RotationGlasgow G4 0SFUnited Kingdom Lister Department of Surgery Glasgow Royal InfirmaryGlasgow G4 0SFUnited Kingdom

Enhanced recovery after surgery(ERAS) employs a multimodal perioperative care pathway with the aim of attenuating the stress response to surgery and accelerating *** has been difficult to determine the relative importance of some of the individual components of these pathways such as epidural analgesia and laparoscopic colorectal *** argue that only a rigid adherence to the published ERAS protocol can achieve the proposed benefits of fast-track *** this article,we explore some of the areas where the evidence base may be changing and ask whether a more flexible and individualised approach should be considered.

关键词： Enhanced recovery Fast-track Laparoscopic Intravenous fluid Postoperative analgesia

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Modulation of a Specific Pattern of microRNAs, Including miR-29a, miR-30a and miR-34a, in Cultured Human Skin Fibroblasts, in Response to the Application of a Biofunctional Ingredient that Protects against Cellular Senescence <i>in Vitro</i>

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Journal of Cosmetics, Dermatological Sciences and Applications 2015年第4期5卷 332-342页

作者： Xianghong Yan Catherine Serre Laurine Bergeron Ludivine Mur Valère Busuttil Jean-Marie Botto Nouha Domloge P&g Innovation godo Kaisha Kobe Japan Ashland specialty Ingredients Vincience Global Skin Research Center Sophia Antipolis France

Skin aging is a process of structural and compositional remodeling that can be manifested by wrinkling and sagging. Remarkably, the dermis plays a dominant role in the aging process. Recent studies suggest that microRNAs are implicated in the regulation of gene expression during aging. However, studies about age-related microRNAs and how they modulate skin aging remain limited. In the present work, a complex of hydrolyzed natural yeast proteins (Saccharomyces cerevisiae) and hydrolyzed natural soya bean was developed and showed the ability to modulate the expression of telomere-binding protein TRF2, which is a key factor for telomere protection and to prevent cellular senescence in vitro and DNA damage. The aim of the study was to identify microRNAs specifically modulated after application of the ingredient complex to cultured fibroblasts, and their possible involvement in remodeling of the human extracellular matrix and fibroblast senescence. Consequently, human skin fibroblasts were cultured and treated with 1% of the ingredient complex for 48 h before analyzing microRNA modulation by RT-qPCR. The use of bioinformatics allowed us to predict the target genes for modulated microRNAs. Results show that the ingredient complex modulated a pattern of microRNAs including the down-regulation of miR-29a-3p, miR-30a-5p and miR-34a-5p, which are associated with fibroblast senescence and remodeling of the human dermal extracellular matrix. In conclusion, our results indicate that miR-29a-3p, miR-30a-5p and miR-34a-5p possibly represent key microRNAs that impact human fibroblast senescence and remodeling of the dermal extracellular matrix.

关键词： microRNAs qPCR Array Skin Fibroblasts Skin Senescence Telomere Extracellular Matrix Sirtuin 1 Collagen

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Surface-enhanced Raman scattering sensor based on fused biconical taper zone of optical fiber

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Journal of Shanghai University(English Edition) 2011年第1期15卷 26-30页

作者：陈振宜柏华张琨陈娜庞拂飞王廷云 Key Laboratory of specialty Fiber optics and optical Access Networks School of Communication and Information Engineering Shanghai University

In this paper, a novel surface-enhanced Raman scattering （SERS） sensor combined with fused biconical taper fiber （FBTF） and film coated with silver sols is proposed. This structure is designed to significantly increase the SERS active surface when the length of the taper is increased and the radius is reduced, since the penetration depth is inversely proportional to the taper radius and proportional to the taper length according to the fiber-optic evanescent-wave theory. Based on the SERS sensing principle, the feasibility of FBTF sensor is analyzed in this paper. As a result, the Raman spectrum of R6g is obtained from the fused biconical taper zone surface coating with the silver sols in our experiments. The detected concentration is up to 10-7mol/L.

关键词： surface-enhanced Raman scattering (SERS) fused biconical taper fiber (FBTF) evanescent wave penetration depth SERS-active surface

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用新型聚合物减粘裂化工艺提高熔喷聚丙烯原料的灵活性

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产业用纺织品 2006年第3期24卷 12-17页

作者： Pauquet J.R. Chan S.M. Roth M. Mueller D. gande M. 陈淑萌火贤磊 Ciba specialty Chemical公司

汽巴精细化工公司推出的新型添加剂(商品名C iba IRgATEC CR 76)不含过氧化物,在熔喷纺丝过程中对树脂提供可控性的降解,使产品具有优越的性能。该项技术不只适用于市场上的纺粘级原料,还能把纺粘或纺熔复合废料转换成高附加值的熔喷规... 详细信息

汽巴精细化工公司推出的新型添加剂(商品名C iba IRgATEC CR 76)不含过氧化物,在熔喷纺丝过程中对树脂提供可控性的降解,使产品具有优越的性能。该项技术不只适用于市场上的纺粘级原料,还能把纺粘或纺熔复合废料转换成高附加值的熔喷规格的树脂。该新型的添加剂属新一代的自由基生成剂,克服了目前过氧化物工艺的缺点。产品呈粒状,可安全稳定地用于生产和储存,减粘裂化作用在一般加工温度范围内非常有效,可以得到理想的相对分子质量分布较窄的树脂。用此技术所生产的熔喷非织造布及纺粘/熔喷非织造布(例如SMS)在静水压、透气性及机械性能上得到极大的改善。非织造布原料的灵活性是该新型工艺的主要优点,并能提供开发出独特非织造布的可能性。

关键词：熔喷非织造布聚丙烯树脂减粘裂化添加剂

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one-step synthesis of cyclic polypyrazole and the self-assembly vesicles driven by hydrogen bond

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Chinese Chemical Letters 2022年第2期33卷 825-829页

作者： Zhen Lu Bogeng guo Yulai Zhao Linxi Hou Longqiang Xiao Department of Materials-oriented Chemical Engineering College of Chemical EngineeringFuzhou UniversityFuzhou 350116China Fujian Key Laboratory of Advanced Manufacturing Technology of specialty Chemicals Fuzhou UniversityFuzhou 350116China

The synthesis of cyclic polymer is an important topic in polymer chemistry. Herein, we report a one-step method to prepare cyclic polypyrazoles. Monomers with two functional groups, diazo and alkyne, were synthesized and polymerized via 1,3-diploar cycloaddition in bulk under heating without any *** with molecular weights in the range of 3800-4400 g/mol and yields in the range of 78.8-98.7% were successfully synthesized. No chain end group was detected by LC-QToF-MS and FTIR, which proves the cyclic structure of polypyrazoles. What is noteworthy is that the cyclic polypyrazoles can selfassemble into vesicles during the reprecipitation process, which was proved by the results of SEM and TEM. The reason for that is the formation of intermolecular hydrogen bond between NH and ester groups.

关键词： 1,3-Dipolar cycloaddition Polypyrazole Self-assembly Cyclic polymers

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Physicochemical effects on sulfite transformation in a lipidrich Chlorella ***

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Chinese Journal of oceanology and Limnology 2014年第6期32卷 1288-1296页

作者：梁芳温小斌罗立明耿亚洪李夜光 Key Laboratory of Plant germplasm Enhancement and specialty Agriculture Wuhan Botanical GardenChinese Academy of Sciences Institute of Bioengineering Zhengzhou Normal University University of Chinese Academy of Sciences Department of Pathology and Immunology Baylor College of Medicine

So2 is very rapidly hydrated to sulfurous acid in water solution at pH value above 6.0, whereby sulfite is yielded from the disassociation of protons. We aimed to improve the sulfite transformation efficiency and provide a basis for the direct utilization of So2 from flue gas by a microalgal suspension. Chlorella sp. XQ-20044 was cultured in a medium with 20 mmol/L sodium sulfite under different physicochemical conditions. Under light conditions, sulfite concentration in the algal suspension reduced linearly over time, and was completely converted into sulfate within 8 h. The highest sulfite transformation rate （3.25 mmol/ （L.h）） was obtained under the following conditions： 35℃, light intensity of 300 μmol/（m^2·s）, NaHCo3 concentration of 6 g/L, initial cell density （oD540） of 0.8 and pH of 9-10. There was a positive correlation between sulfite transformation rate and the growth of Chlorella, with the conditions favorable to algal growth giving better sulfite transformation. Although oxygen in the air plays a role in the transformation of So3^2- to So^2-, the transformation is mainly dependent on the metabolic activity of algal cells. Chlorella sp. XQ-20044 is capable of tolerating high sulfite concentration, and can utilize sulfite as the sole sulfur source for maintaining healthy growth. We found that sulfite 〈20 mmol/L had no obvious effect on the total lipid content and fatty acid profiles of the algae, Thus, the results suggest it is feasible to use flue gas for the mass production of feedstock for biodiesel using Chlorella sp. XQ-20044, without preliminary removal of So2, assuming there is adequate control of the pH.

关键词： Chlorella sulfite transformation sulfur dioxide flue gas

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BRAF inhibitor treatment of melanoma causing colonic polyps:An alternative hypothesis

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World Journal of gastroenterology 2017年第17期23卷 3022-3029页

作者： Fergal C Kelleher grainne Callaghan Catriona gallagher Hazel o'Sullivan Department of Medical oncology Specialty Certification Medical Oncology Royal College of Physicians United KingdomEuropean Certification in Medical OncologyThe Adelaide and Meath Hospital The Adelaide and Meath Hospital Whangarei Base Hospital

Colonic polyps may arise from BRAF inhibitor treatment of melanoma, possibly due to paradoxical activation of the mitogen-activated protein (MAP)-kinase pathway. In an alternative evidence based scenario, tubular colonic adenomas with APC gene mutations have also been identified in the context of BRAF inhibitor treatment, in the absence of mutations of MAPK genes. A minority of colorectal cancers develop by an alternative “serrated polyp pathway”. This article postulates a novel hypothesis, that the established phenotypic and molecular characteristics of serrated colonic polyps/CRC offer an intriguing insight into the pathobiology of BRAF inhibitor induced colonic polyps. Serrated polyps are characterized by a Cpg island methylation phenotype, MLH1 silencing and cellular senescence. They also have BRAF mutations. The contention is that BRAF inhibitor induced polyps mimic the afore-described histology and molecular features of serrated polyps with the exception that instead of the presence of BRAF mutations they induce C-RAF homodimers and B-RAF: C-RAF heterodimers.

关键词： BRAF inhibitors Malignant melanoma Serrated polyps Colonic polyps

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