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Genes & Diseases 2023年第3期10卷 716-718页

作者： Jiajia Lv Xiaoyan Chen Yuan Xiao Department of Pediatrics Ruijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Department of Pathology Ruijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China

Loss-of-function mutations of interleukin 10 receptor alpha subunit(IL-10RA)(homozygotes or compound heterozygotes)are associated with pediatric colitis and diarrhea.These mutations always drive a significant increase in serum interleukin-10(IL-10)levels,while such high levels of IL-10 fail to suppress intestinal inflammation,at least in part by failure to suppress the release of some cytokines such as interleukin 1 beta(IL-1β)and tumor necrosis factor-alpha(TNFα).1,2 However,at present,whether a novel missense variant has a pathogenic effect is mainly determined according to the guidelines issued by the American College of Medical Genetics and Genomics(ACMG).Without functional verification,a variant of uncertain significance(VUS)will be easily made,or a variant will be misjudged as pathogenic or benign.Thus,a function test of a novel mutated IL-10RA is needed to determine whether colitis was attributed to such a mutation.

关键词： diarrhea inflammation compound

Lattice vibration,optical,and mechanical properties of aluminum phosphide (AlP) compound under the influence of temperature

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Optoelectronics Letters 2023年第8期19卷 472-475页

作者： Ibtisam F Al Maaitah Applied Physics Department Faculty of ScienceTafila Technical UniversityP.O.Box 179TafilaJordan

We have studied the lattice vibrations,optical and mechanical characteristics of the zinc-blende aluminum phosphide(Al P) compound.Investigations have been done into the effect of temperature on refractive index,optical dielectric constant,static dielectric constant,longitudinal and transversal sound velocities,reflectivity,susceptibility,phonon frequencies,micro-hardness,ionicity,and transverse effective charge.Al P is a wide-indirect band gap semiconductor and has a wide range of uses in high-performance optoelectronic devices,such as the manufacturing of infrared photo-detectors and light-emitting diodes.It’s important to know the physical properties of semiconductor materials,like the Al P compound,to develop new technologies and devices.The calculations were carried out using the empirical pseudo-potential method(EPM).Comparative analysis with the existing experiment and other theoretical calculations reveals a satisfactory level of agreement.

关键词： compound optical Lattice

Degradation characteristics of insulation near aluminium foil edges inside dry-type bushing cores under electrothermal compound stress

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High Voltage 2022年第6期7卷 1153-1164页

作者： Ming Chen Xuandong Liu Yuhang Shao Gaoyi Shang Qiaogen Zhang Hao Tang Libao Liu State Key Laboratory of Electrical Insulation and Power Equipment School of Electrical EngineeringXi'an Jiaotong UniversityXi'anChina China Electric Power Research Institute BeijingChina Nanjing Electric High Voltage Bushing Co. NanjingChina

Insulation breakdown of dry-type valve-side bushing cores under electrothermal compound stress has become a key factor limiting the safe and stable operation of the converter transformer.Based on slices of the real bushing core,it is observed for the first time that fold,peeling off,and fracture defects exist near the aluminium(Al)foil edge,accompanied by many metal spikes with a curvature radiuscompound stress are investigated accordingly.The results show that high temperature significantly increases the dielectric loss heat energy density and Joule heat energy density,accelerating the insulation degradation near Al foil edges.The parallel crepe paper interface significantly accelerates the growth of electrical trees under AC-superimposed positive DC voltage,while this effect is not significant under AC voltage.As the crepe paper consists of wooden fibres of 10μm diameter,the electrical trees tend to grow along interfaces between fibres and epoxy resin to form“feathery”electrical trees in epoxy resinimpregnated paper samples.

关键词： stress insulation compound

Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy

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Chinese Medical Journal 2022年第12期135卷 1503-1505页

作者： Yunqing Ren Jipeng Liu Dianyi Yao Huixia Hua Xiaoxuan Guo Huatuo Dai Nan Dang Yan Huang Dianhe Yu Department of Dermatology The Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China Department of Ophthalmology The Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China

To the Editor:Hypotrichosis with juvenile macular dystrophy(HJMD,OMIM:601553)is a rare autosomal recessive disorder characterized by short and sparse hair,progressive macular degeneration,decreased visual acuity,andev... 详细信息

关键词： visual dystrophy compound

compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency

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Pediatric Investigation 2018年第2期2卷 90-95页

作者： Chanjuan Hao Jun Guo Ruolan Guo Zhan Qi Wei Li Xin Ni Beijing Key Laboratory for Genetics of Birth Defects MOE Key Laboratory of Major Diseases in Children Center for Medical Genetics Beijing Pediatric Research Institute Beijing Children's Hospital Capital Medical UniversityNational Center for Children's HealthBeijing China Beijing Pediatric Research Institute Department of Otolaryngology Head and Neck Surgery Beijing Children's Hospital Capital Medical UniversityNational Center for Children's HealthBeijing China

Importance:Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease exhibiting a variety of clinical manifestations.This condition specifically leads to disordered steroidogenesis,which can affect the development of the reproductive system,skeleton,and other parts of the body.The severe form of PORD is difficult to differentiate with Antley-Bixler syndrome (ABS).The genetic characters and clinical evaluation of PORD are still unclear in China.Objective:To perform an exome analysis and identify the pathogenic cause in order to assist clinicians to obtain a proper evaluation on the genetic condition.Methods:The proband underwent detailed physical evaluations.DNA of the proband and his parents was isolated and whole-exome sequencing (WES) was performed.Variants were analyzed and evaluation according to the ACMG guideline.Results:A 1-year-old Chinese boy with midface hypoplasia,choanal stenosis,multiple joint contractures,micropenis and right cryptorchidism was misdiagnosed with Crouzon syndrome.By trio-whole-exome sequencing,we identified an unreported compound heterozygous mutation (c.667C＞T,p.R223* and c.1370G＞A,p.R457H) in POR in the proband.This mutation was inherited from healthy heterozygous parents,supporting the diagnosis of PORD,which was further confirmed by biochemical characteristics.Interpretation:We have identified a pathogenic variant with an unreported compound heterozygous POR mutation,which expands the clinical and genetic spectra of PORD and emphasizes the usefulness of WES for genetic diagnosis.

关键词： compound heterozygous mutation Cytochrome P450 oxidoreductase Disordered steroidogenesis POR deficiency Whole-exome sequencing

Novel MEI1 compound heterozygous mutation in a sporadic family associated with spermatogenetic failure

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Asian Journal of Andrology 2023年第4期25卷 544-546页

作者： Jie Chen Feng-Hua Li Jin-Hao Xing Xue-Bao Zhang Zhao-Li Du Yin-Shan Jin Yuan-Qing Cui Xiong Wang Reproductive Medicine Center Affiliated Yantai Yuhuangding Hospital of Qingdao UniversityYantai 264000China Yinfeng Gene Technology Co. Ltd.Jinan 250000China

Dear Editor,Male infertility is a complex and multifactorial health problem with highly heterogeneous phenotypes,ranging from reduced sperm production to the complete absence of sperm in testis,and genetic factors play an important role in this problem.1 Patients with azoospermia have the highest risk of carrying genetic abnormalities,and this risk gradually decreases as sperm count increases.1 Due to the high throughput and low cost of next-generation sequencing(NGS)technology,many centers have used NGS to identify genetic defects associated with abnormal spermatogenesis.

关键词： centers compound infertility

Daily expression of two circadian clock genes in compound eyes of Helicoverpa armigera: evidence for peripheral tissue circadian timing

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Insect Science 2019年第2期26卷 217-228页

作者： Shuo Yan Yan-Jun Liu Jia-Lin Zhu Wei-Na Cui Xin-Fang Zhang Yu-Hui Yang Xiao-Ming Liu Qing-Wen Zhang Xiao-Xia Liu Department of Entomology China Agricultural University Beijing China National Agricultural Technology Extension and Service Center Beijing China Beijing Entry-Exit Inspection and Quarantine Bureau Beijing China Zoucheng Plant Protection Station Zoucheng Shandong Province China Changli Institute of Pomology Hebei Academy of Agriculture and Forestry Sciences Changli Hebei Province China

Circadian clock genes in peripheral tissues usually play an important role in regulating the circadian rhythms. Light is the most important environmental signal for synchronizing endogenous rhythms with the daily light-dark cycle, and compound eyes are known as the principal circadian photoreceptor for photic entrainment in most moths. However, there is little evidence for circadian timing in compound eyes. In the current study, we isolated the timeless gene, designated Ha-tim (GenBank accession number: KM233162), from the cotton bo 11 worm Helicoverpa armigera. Ha-tim and period (Haper) showed low messenger RNA levels in the compound eyes compared to the other tested adult organs. Ha-tim and Ha-per transcript levels were dependent on an endogenous rhythm that fluctuated over a daily cycle in the compound eyes and heads. The cycles of Hatim and Ha-per transcript levels followed similar time courses, and identical expression patterns of the two genes were observed in the compound eyes and heads. Ha-tim and Ha-per were dowregulated in the compound eyes after light exposure, copulation and starvation. These results indicated that Ha-tim and Ha-per transcript levels were regulated by endogenous and exogenous factors. Our study helped to improve our understanding of the circadian clock machinery in compound eyes and other peripheral tissues.

关键词： circadian clock compound eye photoreceptor period timeless rhythm

Qualitative and quantitative assessment of related substances in the compound Ketoconazole and Clobetasol Propionate Cream by HPLC-TOF-MS and HPLC

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Journal of Pharmaceutical Analysis 2019年第3期9卷 156-162页

作者： Wenling Yang Xiaomei Yang Fanghua Shi Zhigang Liao Yongkun Liang Liangzhong Yu Ruixun Wang Qing Li Kaishun Bi School of Pharmacy Shenyang Pharmaceutical University Shenyang 110016 China G.D China Resources Shunfeng Pharmaceutical Co. Ltd Guangdong 528300 China

Related substances in pharmaceutical formulations are associated with their safety, efficacy and stability. However, there is no overall study already published on the assessment of related substances in the compound Ketoconazole and Clobetasol Propionate Cream. In this work, a reliable HPLC-TOF-MS qualitative method was developed for the analysis of related substances in this preparation with a quick and easy extraction procedure. Besides the active pharmaceutical ingredients, two compounds named ketoconazole impurity B′ optical isomer and ketoconazole impurity E were identified. Furthermore, a new HPLC method for qualitative and quantitative assessment on related substances and degradation products, which were found in the stability test, was established and validated. The single standard to determine multi-components method was applied in the quantitative analysis, which was an effective way for reducing cost and improving accuracy. This study can provide a creative idea for routine analysis of quality control of the compound Ketoconazole and Clobetasol Propionate Cream.

关键词： compound Ketoconazole and Clobetasol Propionate Cream Ketoconazole impurity B' optical isomer Ketoconazole impurity E Quality control HPLC-TOF-MS HPLC

Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects

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Journal of Genetics and Genomics 2020年第11期47卷 713-717页

作者： Bing Song Chunyu Liu Yang Gao Jordan Lee Marley Weiyu Li Xiaoqin Ni Wangjie Liu Yujie Chen Jiajia Wang Chao Wang Ping Zhou Zhaolian Wei Xiaojin He Feng Zhang Yunxia Cao Reproductive Medicine Center Department of Obstetrics and GynecologyThe First Affiliated Hospital of Anhui Medical UniversityHefei230032China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical UniversityHefei230032China Ministry of Education Key Laboratory of Population Health Across Life Cycle Anhui Medical UniversityHefei230032China Anhui Province Key Laboratory of Reproductive Health and Genetics Hefei230032China Biopreservation and Artificial Organs Anhui Provincial Engineering Research CenterAnhui Medical UniversityHefei230032China Obstetrics and Gynecology Hospital NHC Key Laboratory of Reproduction Regulation(Shanghai Institute of Planned Parenthood Research)Fudan UniversityShanghai200011China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai200011China State Key Laboratory of Reproductive Medicine Center for Global HealthSchool of Public HealthNanjing Medical UniversityNanjing211116China Wellcome Centre for Mitochondrial Research Biosciences InstituteNewcastle UniversityNewcastle upon TyneNE24HHUK

The axoneme of the human sperm has a very similar ultrastructure to motile cilia,the"9+2"structure,comprising nine peripheral double microtubules plus two central pairs(Nicastro et al.,2006;Ishikawa,2017).A proteomics analysis identified more than700 proteins exclusively in the sperm tail,and abnormal expression of related genes can cause male infertility with multiple morphological abnormalities of flagella(MMAF),including absent,coiled,short,and irregular-caliber flagella(Baker et al.,2013;Coutton et al.,2015).

关键词： al. compound ultrastructure

Selective hydrogenation of acetylene on SiO_2-supported Ni-Ga alloy and intermetallic compound

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Journal of Energy Chemistry 2019年第2期28卷 40-49页

作者： Lei Wang Fengxu Li Yanjun Chen Jixiang Chen Tianjin Key Laboratory of Applied Catalysis Science and Technology Department of Catalysis Science and EngineeringSchool of Chemical Engineering and TechnologyTianjin University

Ni/Si O_2 and bimetallic Ni_xGa/SiO_2 catalysts with different Ni/Ga atomic ratios(x = 10～2) were investigated for the selective hydrogenation of acetylene.It was found that Ni_xGa/SiO_2 showed higher selectivity to ethylene than Ni/Si O_2.This is attributed to the formation Ni-Ga alloy and Ni3 Ga intermetallic compound(IMC) where there was a charge transfer from Ga to Ni,which is favorable for reducing the adsorption strength and amount of ethylene on Ni atoms.As a result,the over-hydrogenation,the C–C bond hydrogenolysis and the polymerization were suppressed,and subsequently the selectivity to ethylene was enhanced.With the decrease of Ni/Ga atomic ratio,the activity and stability of the Ni_xGa/SiO_2 catalysts increased first and then decreased,while the ethylene selectivity tended to increase.Ni_5 Ga/SiO_2 exhibited the best performance.Under the conditions of 180 °C,0.1 MPa,and a reactant(1.0 vol% acetylene,5.0 vol% H_2 and 94 vol% N_2) with the space velocity of 36,000 m L h^(-1) g^(-1),the acetylene conversion maintained at 100% on Ni_5 Ga/SiO_2 during 120 h time on stream and the selectivity to ethylene was 75%～81%after reaction for 68 h.It was also found that the formation of Ni-Ga alloy and Ni_3 Ga IMC suppressed the incorporation of carbon to form NiCx,subsequently enhancing the catalyst stability.Additionally,with increasing the Ga content,the catalyst acid amount and strength tended to increase,which promoted the polymerization and carbon deposition and so the catalyst deactivation.

关键词： Selective hydrogenation Acetylene Ni-Ga alloy Ni3Ga intermetallic compound