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World Journal of Clinical Cases 2022年第15期10卷 4923-4928页

作者： Pan Fu Yang-Yang Jiao Kai Chen Jing-Bo Shao Xue-Lian Liao Jing-Wei Yang Sha-Yi Jiang Department of Hematology and Oncology Shanghai Children’s HospitalShanghai Jiao Tong UniversityShanghai 200062China Department of Hematology and Oncology Shanghai Children’s HospitalShanghai Jiao Tong UniversityShanghai 200040China

BACKGROUND Hereditary spherocytosis(HS)is characterized by anemia,jaundice,splenomegaly,and cholelithiasis,and is caused by abnormal genes encoding red blood cell membrane *** most common mutations found in HS are in the ANK1 *** SUMMARY A 4-mo-old girl was admitted to our hospital with pallor that had lasted for more than 2 *** presented with jaundice,anemia and splenomegaly.A heterozygous mutation of ANK1(exon23:c.G2467T:p.E823X)was identified,and the mutation was determined to be autosomal *** mutation is linked to the relatively serious anemia she had after birth;this anemia improved with *** The utilization of next-generation sequencing may assist with the accurate diagnosis of HS,especially in atypical cases.

关键词： Hereditary spherocytosis ANK1 mutation Next-generation sequencing Case report nonsense mutation

A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome

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Chinese Medical Journal 2014年第24期127卷 4190-4196页

作者： Li Qian Zhang Yongpeng Jia Liyun Peng Xiaoyan Beijing Tongren Eye Center Beijing Key Laboratory of Ophthalmology and Visual Science Beijing Institute of Ophthalmology Beijing Tongren Hospital Capital Medical University Beijing 100730 China

Background Bardet-Biedl syndrome （BBS） is a genetically heterogeneous disease, and information about BBS in Chinese populations is very limited. The purpose of the present study was to determine the genetic cause of BBS in a Chinese Han family. Methods Clinical data were recorded for the 4-year-old female proband and the available family members. The proband was screened for mutation by Sanger sequencing for a total of 142 exons of the 12 BBS-causing genes （BBS1-BBS12）. The variants detected in the proband were further confirmed in the other family members. Results We identified a novel homozygous nonsense mutation （c.70A〉T, p.K24X） in the BBS4 gene exon 2 in the proband. Such mutant allele was predicted to cause a premature truncation in the N-terminal of the BBS4 protein, and probably induced the nonsense-mediated decay of BBS4 messenger RNAs. The proband＇s parents and brother were heterozygous for the nonsense mutant allele. It was absent in 50 Chinese control subjects. An additional rare heterozygous missense single nucleotide polymorphism （SNP） named rs200718870 in BBS10 gene was also detected in the proband, her father and her brother. Some manifestations of the proband including atypical retinitis pigmentosa, choroidal sclerosis, high myopia, and early onset of obesity might be associated with this mutation in BBS4 gene. The proband＇s father also reported surgical removal of an extra finger during childhood. Conclusions The present study described a novel nonsense mutation in BBS4 gene in a Chinese family. This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein. We also detected a rare heterozygous missense SNP in BBSIO gene in the family, but did not find sufficient evidence to support the triallelic inheritance.

关键词： Bardet-Biedl syndrome Chinese nonsense mutation novel BBS4 gene

Application of topical gentamicin ointment in the treatment of Nagashima-type palmoplantar keratosis in children with a nonsense mutation

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Pediatric Investigation 2023年第3期7卷 163-167页

作者： Shan Wang Zhou Yang Ying Liu Huan Zhang Zongyang Liu Xiaoling Wang Ying Li Haihong Liu Yonghong Yang Lin Ma Department of Dermatology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Pharmacy Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Otolaryngology Head and Neck SurgeryBeijing Key Laboratory for Pediatric Diseases of OtolaryngologyHead and Neck SurgeryBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Respiratory Medicine China National Clinical Research Center for Respiratory DiseasesBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

Importance:Nagashima-type palmoplantar keratosis(NPPK)is a hereditary dermatosis mostly caused by a nonsense mutation in *** the increasing interest in readthrough gentamicin treatment of NPPK,clinical evidence for this treatment is ***:This study aimed to provide further evidence for the use of topical gentamicin in the treatment of NPPK in children with nonsense ***:We designed a bilaterally controlled study of topical gentamicin *** diagnosed with NPPK carrying nonsense mutations were enrolled in this study.A 0.1%gentamicin ointment was applied to one hand and an emollient to the other for 3 months.A bilateral comparison of the visual analog scale scores for clinical manifestations and safety was ***:Ten children with NPPK were included in this *** comparison with the emollient side,the topical gentamicin side showed significant improvements in hyperkeratosis,erythema,maceration,and desquamation after 1 and 3 months of treatment(Pnonsense mutations,indicating that it is a promising therapeutic choice in children with NPPK.

关键词： Children Gentamicin Nagashima-type palmoplantar keratosis nonsense mutation Readthrough treatment

Expanding the Genetic Code for Suppression of Premature Termination Codons to Alleviate Human nonsense mutation Diseases

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Expanding the Genetic Code for Suppression of Premature Term...

A novel nonsense mutation of NF1(c.1603C>T) in a neurofibromatosis type 1 patient with huge low-grade malignant peripheral nerve sheath tumor

第十一届全国化学生物学学术会议

作者： Qi Yang Ningning Shi Haoran Zhang Aikedan Abulimiti Jialu Cheng Haishuang Lin Xu Yang Yu Wang Le Tong Tianchang Wang Xiaodong Zhang HongMin Chen Zhenlan Niu Hui Xiao Qing Xia State Key Laboratory of Natural and Biomimetic Drugs Department of Chemical BiologySchool of Pharmaceutical SciencesPeking University

nonsense mutations with premature termination codons(PTCs) account for approximately 11% of reported monogenic *** therapies for monogenic diseases may induce functionally compromised *** through PTCs by unnatural amino acid(UAA) incorporation systems could facilitate the full-length protein expression with minimal losses of function,which represents a promising therapeutic approach for nonsense mutation ***,we engineered a pyrrolysyl tRNA synthetase-tRNA (PylRS-tRNA ) system and investigated its potential to treat nonsense mutation in dystrophin gene,which could cause Duchenne muscular dystrophy(DMD).By using PylRS-tRNA system,we partially restored dystrophin expression in cultured myoblasts derived from a mdx mouse(DMD mouse model) and a DMD *** investigate the therapeutic potential of this system in vivo,we further generated the trans/mdx mice by crossing the PylRS-tRNAPyl UUA transgenic mice with mdx ***,administration of Nε-2-azidoethyloxycarbonyl-L-lysine(NAEK) restored the endogenous dystrophin expression up to 41% in trans/mdx mice and functioned at least 8 weeks,and muscle performance was also partially enhanced relative to mdx *** together,our results demonstrated the feasibility of the UAA incorporation systems to restore the endogenous protein expression and provided a novel therapeutic strategy for human monogenic nonsense mutation diseases.

关键词： nonsense mutation premature termination codons PylRS-tRNAPyl system Duchenne muscular dystrophy Nε-2-azidoethyloxycarbonyl-L-lysine(NAEK)

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A novel nonsense mutation of NF1(c.1603C>T) in a neurofibrom...

Effect of high-molecular-weight glutenin subunit Dy10 on wheat dough properties and end-use quality

2018年浙江省检验医学学术年会

作者： Shuaishuai Chen Juping Du Na Wang Shihui Wang Bo Shen Liyue Ye Taizhou Hospital of Zhejiang Province Taizhou Enze Medical Center(Group)

Neurofibromatosis type 1(NF1) is a common autosomal dominant hereditary disease with clinically heterogeneous neurologic disorder caused by NF1 gene *** study was aimed to describe the clinical features of a NF1 female with huge tumor on her right forearm and to identify the mutations in the NF1 *** proband underwent surgical excision and the histopathological indicated that the huge tumor from her right forearm was low-grade malignant peripheral nerve sheath tumor(MPNST) arising from *** nextgeneration sequencing(NGS) was used to analyses the mutation of NF1 gene in the *** was performed by sanger *** results identified a novel heterozygous variant,c.1603 C>T(p.Q535 X) in the exon 14 of NF1 gene in a 34-year-old *** our knowledge,this is the first case to identify a c.1603 C>T nonsense mutation of NF1 gene,which is likely to be responsible for the pathogenesis of NF1.

关键词： neurofibromatosis type 1 NF1 gene nonsense mutation malignant peripheral nerve sheath tumor surgical excision

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Journal of Integrative Agriculture 2023年第6期22卷 1609-1617页

作者： WANG Yan GUO Zhen-ru CHEN Qing LI Yang ZHAO Kan WAN Yong-fang Malcolm JHAWKESFORD JIANG Yun-feng KONG Li PU Zhi-en DENG Mei JIANG Qian-tao LAN Xiu-jin WANG Ji-rui CHEN Guo-yue MA Jian ZHENG You-liang WEI Yu-ming QI Peng-fei State Key Laboratory of Crop Gene Exploration and Utilization in Southwest China Chengdu 611130P.R.China Triticeae Research Institute Sichuan Agricultural UniversityChengdu 611130P.R.China Rothamsted Research Harpenden AL52JQUK

High-molecular-weight glutenin subunits(HMW-GSs) are the most critical grain storage proteins that determine the unique processing qualities of wheat. Although it is a part of the superior HMW-GS pair(Dx5+Dy10), the contribution of the Dy10 subunit to wheat processing quality remains unclear. In this study, we elucidated the effect of Dy10 on wheat processing quality by generating and analyzing a deletion mutant(with the Dy10-null allele), and by elucidating the changes to wheat flour following the incorporation of purified Dy10. The Dy10-null allele was transcribed normally,but the Dy10 subunit was lacking. These findings implied that the Dy10-null allele reduced the glutenin:gliadin ratio and negatively affected dough strength(i.e., Zeleny sedimentation value, gluten index, and dough development and stability times) and the bread-making quality;however, it positively affected the biscuit-making quality. The incorporation of various amounts of purified Dy10 into wheat flour had a detrimental effect on biscuit-making quality. The results of this study demonstrate that the Dy10 subunit is essential for maintaining wheat dough strength. Furthermore, the Dy10-null allele may be exploited by soft wheat breeding programs.

关键词： HMW-GS nonsense mutation Dy10-null allele end-use quality

Suppressor tRNA in gene therapy

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Science China(Life Sciences) 2024年第10期67卷 2120-2131页

作者： Jingjing Ruan Xiaoxiao Yu Huixia Xu Wenrui Cui Kaiye Zhang Chenyang Liu Wenlong Sun Xiaodan Huang Lei An Yue Zhang The Children's Hospital National Clinical Research Center for Child HealthZhejiang University School of MedicineLiangzhu LaboratoryHangzhou 310000China Liangzhu Laboratory Zhejiang University School of MedicineHangzhou 311121China Department of Thoracic and Cardiovascular Surgery Huaihe Hospital of Henan UniversityHenan UniversityKaifeng 475000China Translational Medicine Center Huaihe Hospital of Henan UniversityHenan UniversityKaifeng 475000China Eye Center The Second Affiliated HospitalSchool of MedicineZhejiang UniversityHangzhou 310009China

Suppressor tRNAs are engineered or naturally occurring transfer RNA molecules that have shown promise in gene therapy for diseases caused by nonsense mutations,which result in premature termination codons(PTCs)in coding sequence,leading to truncated,often nonfunctional *** t RNAs can recognize and pair with these PTCs,allowing the ribosome to continue translation and produce a full-length *** review introduces the mechanism and development of suppressor t RNAs,compares suppressor tRNAs with other readthrough therapies,discusses their potential for clinical therapy,limitations,and *** also summarize the applications of suppressor tRNAs in both in vitro and in vivo,offering new insights into the research and treatment of nonsense mutation diseases.

关键词： suppressor tRNA PTC nonsense mutation readthrough gene therapy

Application of topical gentamicin-a new era in the treatment of genodermatosis

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World Journal of Pediatrics 2021年第6期17卷 568-575页

作者： Shan Wang Zhou Yang Ying Liu Mu-Tong Zhao Juan Zhao Huan Zhang Zong-Yang Liu Xiao-Ling Wang Lin Ma Yong-Hong Yang Department of Dermatology Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthNo.56 South Li Shi RoadXi Cheng DistrictBeijing 100045China Department of Pharmacy.Beijing Children's Hospital Capital Medical UniversityNational Center for Children's HealthNo.56 South Li Shi RoadXi Cheng DistrictBeijing 100045China China National Clinical Research Center for Respiratory Diseases Department of Respiratory MedicineBeijing Children's HospitalCapital Medical UniversityNational Center for Children’s HealthNo.56 South Li Shi RoadXi Cheng DistrictBeijing 100045China

Background The clinical use of gentamicin always lies in its antimicrobial activity in the past as an aminoglycoside ***,in the past decade,there were considerable interests in therapeutic approaches in treating hereditary *** of the genodermatosis is caused by nonsense mutations that create premature termination codons and lead to the production of truncated or non-functional *** could induce readthrough of nonsense mutations and enable the synthesis of full-length *** focus on previous publications on topical application of gentamicin and review its utility in genetic skin *** sources We search the MEDLINE through PubMed,EMBASE databases,and the Clinical Trials Registry Platform from January 1960 to July 2020 using the key search terms"gentamicin,topical gentamicin,genodermatosis,genetic skin diseases".Results The application of gentamicin in genodermatosis yielded promising results,both in vivo and in vitro,including Nagashima-type palmoplantar keratosis,epidermolysis bullosa,Hailey-Hailey disease,hereditary hypotrichosis simplex of the scalp,*** Topical gentamicin is a potential treatment option for genodermatosis caused by nonsense mutation.

关键词： Epidermolysis bullosa Gentamicin Nagashima-type palmoplantar keratosis nonsense mutation Readthrough

Antithrombin gene Arg197Stop mutation-associated venous sinus thrombosis in a Chinese family

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Neural Regeneration Research 2011年第20期6卷 1575-1579页

作者： Ang Li Tianhui Liu Zhandong Liu Jimei Li Chunling Zhang Jun Chen Jinmei Sun Yanfei Han Lili Wang Dexin Wang Qiming Xue Baoen Wang Department of Critical Care Medicine Beijing Friendship Hospital Capital Medical University Beijing 100050 China Liver Research Center Beijing Friendship Hspital Capital Medical University Beijing 100050 China Department of Neurology Health Care Center Beijing Friendship Hospital Capital Medical University Beijing 100050 China Department of Neurology Beijing Friendship Hospital Capital Medical University Beijing 100050 China

This study sought to elucidate the genetic correlation of cerebral venous sinus thrombosis caused by a hereditary antithrombin deficiency in a Chinese family, at the genetic and protein levels. A nonsense mutation from C to T on locus 6431 in exon 3B of the antithrombin gene was observed, leading to an arginine （CGA） to stop codon （TGA） change in the protein. This is the first report of this mutation in China. Ineffective heparin therapy in the propositus patient is associated with a lack of heparin binding sites after antithrombin gene mutation. Characteristic low intracranial pressure in the acute phase might be specific to this patient with cerebral venous sinus thrombosis.

关键词： antithrombin cerebral venous sinus thrombosis intracranial hypotension nonsense mutation brain edema

A novel mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa

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International Journal of Ophthalmology(English edition) 2022年第9期15卷 1423-1430页

作者： Hui-Hui Sun Jing-Cong Zhao Su-Ling Yang Jin-Dou Shi Yun-Shuo Wei Jian-Cang Wang Feng Gu Lu Chen Children's Hospital of Hebei Province Shijiazhuang 0050000Hebei ProvinceChina Hebei General Hospital Shijiazhuang 050000Hebei ProvinceChina School of Ophthalmology and Optometry Eye HospitalWenzhou Medical UniversityState Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceMinistry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and OptometryWenzhou 325027Zhejiang ProvinceChina

·AIM:To identify potential mutations and elucidate the clinical findings of male patients and female carriers of X-Iinked retinitis pigmentosa(XLRP)in a Chinese family.·METHODS:A four generation pedigree was collected that consisted of 20 *** DNA was extracted from peripheral blood,and then the target fragments were amplified by PCR and sequenced *** addition,all affected patients and female carriers underwent comprehensively ophthalmic evaluation.·RESULTS:A novel mutation c.2865 G>A p.W955 X in RPGR gene was identified of this family,including four affected individuals and eight *** male patients,aging from 7 to 31 y,tended to have more various,even potentially deleterious clinical features of *** the same time,individuals with heterozygous mutations(carriers)manifested a wide spectrum of clinical ***,only two male patients and three female carriers manifested pathological myopia(PM).Among the female carriers,half of subjects who harbor poor visual acuity suffered esotropia or ***,16.7%and 66.7%of carriers had abnormal electroretinogram(ERG)and fundus,respectively.·CONCLUSION:In this study,a novel mutation of the RPGR gene is identified,which broadens the spectrum of RPGR mutations,and elaborates the relationship between genotype and phenotype.

关键词： X-linked retinitis pigmentosa RPGR nonsense mutation phenotype