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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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种植支抗对骨性Ⅱ类高角患者垂直向控制作用的回顾分析

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中华口腔正畸学杂志 2024年第1期31卷 11-17页

作者：梁炜吴伟强赵宁宁汤瑶韩冰林久祥北京大学口腔医学院·口腔医院正畸科、国家口腔医学中心、国家口腔疾病临床医学研究中心、口腔生物材料和数字诊疗装备国家工程研究中心北京100081 北京大学口腔医学院·口腔医院第五门诊部、国家口腔医学中心、国家口腔疾病临床医学研究中心、口腔生物材料和数字诊疗装备国家工程研究中心北京100050

目的探讨联合使用上前牙区及上磨牙区微种植体支抗对骨性Ⅱ类高角拔牙病例的垂直向控制中的作用。方法通过回顾性研究,采用自身对照的方法,选取10例联合使用了上前牙区和上磨牙区微种植体支抗的骨性Ⅱ类高角拔牙矫正的患者,对其治疗前... 详细信息

目的探讨联合使用上前牙区及上磨牙区微种植体支抗对骨性Ⅱ类高角拔牙病例的垂直向控制中的作用。方法通过回顾性研究,采用自身对照的方法,选取10例联合使用了上前牙区和上磨牙区微种植体支抗的骨性Ⅱ类高角拔牙矫正的患者,对其治疗前后的头颅侧位片进行头影测量和比较分析。结果患者平均疗程31.6个月,矫治后下颌平面角SN-MP减小1.62°±0.79°(P<0.001),FMA减小2.25°±0.99°(P<0.001),后/前下面高比增加0.54%±1.18%(P<0.001),Y轴角减小1.55°±1.77°(P<0.001),ANB角减小0.78°±0.84°(P=0.017);面角增大2.52°±1.60°(P=0.001),Z角增大8.15°±3.33°(P<0.001);上颌第一磨牙到腭平面的距离减少(0.39±0.28)mm(P=0.002);上切牙到腭平面的距离减小(2.46±0.41)mm(P<0.001);平面与眶耳平面的夹角减小1.16°±1.46°(P=0.033),差异均具有统计学意义。结果显示矫正后上前牙压低、上磨牙压低,而下颌平面和咬合平面均发生了一定的逆时针旋转,从而在一定程度上改善了软组织侧貌。结论在上颌前牙及上磨牙区联合使用微种植体支抗,进行垂直向控制,可以产生一定量的下颌平面逆时针旋转,较好地改善了骨性Ⅱ类高角患者的侧貌。

关键词：高角病例垂直向控制微种植体支抗

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Surface nanostructures orienting self-protection of an orthodontic nickel-titanium shape memory alloys wire

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Chinese Science Bulletin 2007年第21期52卷 3020-3023页

作者： NIE Qiong JI ZhuoYu lin jiuxiang HU WenPing Department of Orthodontics School and Hospital of Stomatology Peking University Beijing 100081 China National Laboratory for Molecular Sciences Key Laboratory Of Organic Solids Instituie of Chemistry Chinese Academy of Sciences Beijing 100080 China Graduate University of Chinese Academy of Sciences Beijing 100039 China

Shape memory alloys (SMA) have been applied to a wide variety of applications in a number of different fields such as aeronautical applications, sensors/actuators, medical sciences as well as orthodontics. It is a hot topic to enhance the anti-corrosion ability of orthodontic wires for clinical applications. In this letter, a very nice fractal structure, micro-domains with identical nanometer sized grooves, was ob- tained on the surfaces of the orthodontic wires with an oxygen plasma and acid corrosion. The concave parts of the grooves were dominated by titanium and convex parts were the same as the bulk wires. The micro-nano fractal structure generated a hydrophobic surface with the largest contact angle to water being about 157°. The titanium dominated nanolayer and the hydrophobicity of the surface resulted in jointly the great improvement of the anti-corrosion ability of the orthodontic wires. Because the fractal structures of the wires were formed automatically when they immersed in acidic environment, hence, the self-protection of the oxygen plasma-treated orthodontic wires in acidic environment indicates their potential applications in orthodontics, and should be also inspirable for other applications of SMA materials.

关键词：口腔正畸学定型器材合金线临床研究

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Salivary exosomal PSMA7： a promising biomarker of inflammatory bowel disease

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Protein & Cell 2017年第9期8卷 686-695页

作者： Xiaowen Zheng Feng Chen Qian Zhang Yulan Liu Peng You Shan Sun jiuxiang lin Ning Chen The Department of Orthodontics Peking University School and Hospital of Stomatology Beijing 100081 China Central Laboratory Peking University School and Hospital of Stomatology Beijing 100081 China The Department of Gastroenterology Peking University People's Hospital Beijing 100044 China The School of Life Sciences Tsinghua University Beijing 100084 China

Inflammatory bowel disease （IBD） is an intestinal immune-dysfunctional disease worldwide whose prevalence increasing in Asia including China. It is a chronic disease of the gastrointestinal tract with unknown cause. Exosomes are small vesicles in various body fluids. They have diameters of 40-120 nm, and one of their functions is long-distance transfer of various sub- stances. In this study, we investigated the contents of salivary exosomes in patients with IBD and in healthy controls to explore a new biomarker in patients with IBD. In this study, whole saliva was obtained from patients with IBD （ulcerative colitis （UC）, n = 37; Crohn＇s disease （CD）, n = 11） and apparently healthy individuals （HC, n = 10）. Salivary exosomes were extracted from samples, and the proteins within the exosomes were iden- tified by liquid chromatograph-mass spectrometer （LC- MS/MS）. The results showed that more than 2000 proteins were detected in salivary exosomes from patients with IBD. Through gene ontology analysis, we found that proteasome subunit alpha type 7 （PSMA7） showed especially marked differences between patients with IBD and the healthy controls, in that its expression level was much higher in the CD and UC groups. This exosomal protein is related to proteasome activity and inflamma- tory responses. So we conclude that in this research,salivary exosomal PSMA7 was present at high levels in salivary exosomes from subjects with IBD. It can be a very promising biomarker to release the patients from the pain of colonoscopy.

关键词： exosomes inflammatory bowel disease,proteomics PSMA7

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Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft

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Genomics, Proteomics & Bioinformatics 2018年第5期16卷 354-364页

作者： Shi-Jian Zhang Peiqi Meng Jieni Zhang Peizeng Jia jiuxiang lin Xiangfeng Wang Feng Chen Xiaoxing Wei Beijing Advanced Innovation Center for Food Nutrition and Human Health College of Agronomy and Biotechnology China Agricultural University Department of Orthodontics & Central Laboratory Peking University School and Hospital of Stomatology State Key Laboratory of Plateau Ecology and Agriculture Medical College of Qinghai University

The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate(NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. NSCL/P involves multiple genes and complex interactions between genetic and environmental factors, imposing difficulty for the genetic assessment of the unborn fetus carrying multiple NSCL/P-susceptible variants. Although genome-wide association studies(GWAS)have uncovered dozens of single nucleotide polymorphism(SNP) loci in different ethnic populations, the genetic diagnostic effectiveness of these SNPs requires further experimental validation in Chinese populations before a diagnostic panel or a predictive model covering multiple SNPs can be built. In this study, we collected blood samples from control and NSCL/P infants inHan and Uyghur Chinese populations to validate the diagnostic effectiveness of 43 candidate SNPs previously detected using GWAS. We then built predictive models with the validated SNPs using different machine learning algorithms and evaluated their prediction performance. Our results showed that logistic regression had the best performance for risk assessment according to the area under curve. Notably, defective variants in MTHFR and RBP4, two genes involved in folic acid and vitamin A biosynthesis, were found to have high contributions to NSCL/P incidence based on feature importance evaluation with logistic regression. This is consistent with the notion that folic acid and vitamin A are both essential nutritional supplements for pregnant women to reduce the risk of conceiving an NSCL/P baby. Moreover, we observed a lower predictive power in Uyghur than in Han cases, likely due to differences in genetic background between these two ethnic ***, our study highlights the urgency to generate the HapMap for Uyghur population and perform resequencing-based screening of Uyghur-specific NSCL/P markers.

关键词： Orofacial cleft Genetic risk Folic acid Vitamin A Nutritional intervention

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A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family

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Genes & Diseases 2020年第3期7卷 440-447页

作者： Jieni Zhang Huaxiang Zhao Wenbin Huang Fengqi Song Wenjie Zhong Mengqi Zhang Yunfan Zhang Zhibo Zhou jiuxiang lin Feng Chen Department of Orthodontics Peking University School and Hospital of StomatologyBeijingChina Central Laboratory Peking University School and Hospital of StomatologyBeijingChina Department of Orthodontics College of StomatologyXi’an Jiaotong UniversityXi’anShaanxiChina Department of Oral and Maxillofacial Surgery Peking University School and Hospital of StomatologyBeijingChina

Cleft lip and/or palate(CL/P)is a most common craniofacial birth defect which has multifactorial *** our study,we aimed to discover the underlying etiological gene variation in a Chinese family diagnosed as non-syndromic CL/P(NSCL/P).The blood sample of the proband and her parents were detected by whole exome *** Mendelian inheritance pattern,allele frequency,variation location,function analysis and literature search were applied to filtrate and screen the ***,the candidates were confirmed by Sanger *** meanwhile explored the conservative analysis and protein homology *** a result,a start-lost mutation c.1A>GAtg/Gtg in the Frizzled-6(FZD6)gene predicting ***1 was *** variation has not been reported before and was predicted to be *** alteration caused missing of two starting amino acids that are evolutionarily conserved for FZD6 ***,the specific structure of the mutant protein obviously changed according to the results of the homologous *** conclusion,the results suggest c.1A>GAtg/Gtg in the FZD6(NM_001164616)might be the genetic etiology for non-syndromic CL/P in this ***,this finding provided new etiologic information,supplementing the evidence that FZD6 is a strong potential gene for CL/P.

关键词： Cleft lip and/or palate Frizzled-6 Hereditary pedigree Variant Whole-exome sequencing

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Identification of rare PTCH1 nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype- phenotype analysis

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Genes & Diseases 2021年第5期8卷 689-697页

作者： Wenjie Zhong Huaxiang Zhao Wenbin Huang Mengqi Zhang Qian Zhang Yue Zhang Chong Chen Zulihumaer Nueraihemaiti Dilifeire Tuerhong Huizhe Huang Gulibaha Maimaitili Feng Chen jiuxiang lin Department of Orthodontics Peking University School and Hospital of StomatologyBeijing100081PR China Central Laboratory Peking University School and Hospital of StomatologyBeijing100081PR China Department of Stomatology The Fifth Affiliated Hospital of Xinjiang Medical UniversityUrumqi830000PR China Xinjiang Medical University Urumqi830000PR China Chongqing Medical University Chongqing400016PR China Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research Department of Orthodontics College of StomatologyXi’an Jiaotong UniversityXi’an 710004PR China

The Patched 1(PTCH1)gene encodes a membrane receptor involved in the Hedge-hog(Hh)signaling pathway,an abnormal state of which may result in congenital defects or hu-man *** this study,we conducted whole-exome sequencing on a three-generation Chinese family characterized with variable penetrance of orofacial clefts.A rare heterozygous variant in the PTCH1 gene(c.2833C>T p.R945X)was identified as a disease-associated *** modeling revealed a truncation starting from the middle of the second extracellular domain of PTCH1 *** may damage its ligand recognition and sterol transportation abilities,thereby affecting the Hh signaling *** assays indi-cated that the R945X protein had reduced stability compared to the wild-type in *** addi-tion,we reviewed the locations and mutation types of PTCH1 variants in individuals with clefting phenotypes,and analyzed the associations between clefts and locations or types of variants within *** findings provide further evidence that PTCH1 variants result in or-ofacial clefts,and contributed to genetic counseling and clinical surveillance in this family.

关键词： Cleft lip with or without palate Clinical genetics Genotype-phenotype analysis PTCH1 Whole-exome sequencing

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A fast forward computational method for nuclear measurement using volumetric detection constraints

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Nuclear Science and Techniques 2024年第2期35卷 47-63页

作者： Qiong Zhang lin-Lv lin University of Electronic Science and Technology of China Chengdu 610000China

Owing to the complex lithology of unconventional reservoirs,field interpreters usually need to provide a basis for interpretation using logging simulation *** the various detection tools that use nuclear sources,the detector response can reflect various types of information of the *** Monte Carlo method is one of the primary methods used to obtain nuclear detection responses in complex ***,this requires a computational process with extensive random sampling,consumes considerable resources,and does not provide real-time response ***,a novel fast forward computational method(FFCM)for nuclear measurement that uses volumetric detection constraints to rapidly calculate the detector response in various complex environments is ***,the data library required for the FFCM is built by collecting the detection volume,detector counts,and flux sensitivity functions through a Monte Carlo ***,based on perturbation theory and the Rytov approximation,a model for the detector response is derived using the flux sensitivity function method and a one-group diffusion *** environmental perturbation is constrained to optimize the model according to the tool structure and the impact of the formation and borehole within the effective detection ***,the method is applied to a neutron porosity tool for *** various complex simulation environments,the maximum relative error between the calculated porosity results of Monte Carlo and FFCM was 6.80%,with a rootmean-square error of 0.62 *** field well applications,the formation porosity model obtained using FFCM was in good agreement with the model obtained by interpreters,which demonstrates the validity and accuracy of the proposed method.

关键词： Nuclear measurement Fast forward computation Volumetric constraints

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Angle各类错及正常牙弓对称性分析与比较

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中华口腔医学杂志 2000年第2期35卷 105-107页

作者：聂琼林久祥北京医科大学口腔医学院正畸科 100081

目的　对Angle各类错及正常的牙弓对称性进行分析和比较。方法　以 4组不同类型错及正常者共 30 0人为研究对象 ,采用YM 2 115三维测量仪精密测量其模型 ,用圆锥曲线模拟牙弓形态 ,利用曲线方程的参数之一旋转角 (θ)分析牙弓... 详细信息

目的　对Angle各类错及正常的牙弓对称性进行分析和比较。方法　以 4组不同类型错及正常者共 30 0人为研究对象 ,采用YM 2 115三维测量仪精密测量其模型 ,用圆锥曲线模拟牙弓形态 ,利用曲线方程的参数之一旋转角 (θ)分析牙弓对称性。结果　无绝对对称的牙弓 ,牙弓不对称也无固定的方向。正常牙弓基本是对称的 ,存在极小范围的不对称。而错总体说来比正常牙弓不对称发生的频率及程度高 ;除ClassIII外 ,下牙弓比上牙弓易出现不对称。各组中ClassII2和ClassIII不对称的发生频率均较高。

关键词：错he 旋转角牙弓对称性 Angle

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The Existence of a Meridional Curve in Closed Incompressible Surfaces in Fully Alternating link Complements

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Chinese Annals of Mathematics,Series B 2024年第1期45卷 73-80页

作者： Wei lin School of Mathematical Sciences Dalian University of TechnologyDalian 116024LiaoningChina

Menasco showed that a closed incompressible surface in the complement of a non-split prime alternating link in S^(3) contains a circle isotopic in the link complement to a meridian of the *** on this result,he was able to argue the hyperbolicity of non-split prime alternating links in *** et *** that if F■S×I\L is an essential torus,then F contains a circle which is isotopic in S×I\L to a meridian of *** author generalizes his result as follows:Let S be a closed orientable surface,L be a fully alternating link in S×I\If F ■ S×I\L is a closed essential surface,then F contains a circle which is isotopic in S×I\L to a meridian of L.

关键词： Fully alternating Incompressible surfaces Meridionally incompressible

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