Mutation相关论文
＜正＞Background and Aims:Hepatitis B virus immune escape gives a challenge to prevention,diagnoses and treatment to hepatit......
A homozygous protein-truncating mutation in ACTL7A causes male infertility characterized by fertiliz
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22. Proteomic Analysis of Differential Protein Expression in vero Cell with Antisense Blocking of Re
Objective: Recent studies have demonstrated that cells exposed to ionizing radiation or alkylating agents can develop pr......
目的:Loeys-Dietz综合征为罕见的遗传性结缔组织疾病。分析伴显著骨骼畸形表现的Loeys-Dietz综合征一个家系的临床特征，并鉴定其致......
目的:总结和分析3例以无症状肾小球性蛋白尿为突出表现的n LMX1B基因相关疾病患儿临床资料，以提高临床医师对基因突变致无症状......
本文研究了三角范畴中的corigid子范畴的主要性质、corigid子范畴的左（右）mutation,得到corigid子范畴的左（右）mutation是corigid子范......
学位
Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect sper
Infertility is a major health issue,affecting approximately 15％of couples of child-bearing age.Although nearly half of id......
Importance::The phenotypes of n ATP1A3 gene mutations are diverse. Relapsing encephalopathy with cerebellar ataxia ......
目的:探讨F框/WD-40域蛋白7（FBXW7）基因突变对非小细胞肺癌（NSCLC）患者免疫治疗预后的影响。方法:（1）选取2019年1月至2021年6月南京医科......
Objective:Transcription factor GATA4 has significant roles in embryonic heart development.Mutations of GATA4 appear to b......
Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow-u
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目的:分析初诊急性淋巴细胞白血病（ALL）患者融合基因的表达情况，进一步探讨融合基因阳性患者的实验室检查特点。方法:回顾性分析2016......
目的:分析小肠原发胃肠间质瘤(GIST)患者的临床病理特征、基因突变特点和预后的相关因素。方法:回顾性收集2011年1月1日至2019年12......
NKX6-2编码一种涉及少突胶质细胞发生和发育的转录因子。近年来，n NKX6-2基因突变被证实与一种严重的低髓鞘化性脑白质营养不良......
We study the relations between two groups related to cluster automorphism groups which are defined by Assem,Schiffler an......
Objective:Kidney cancer is a group of cancers occurred in the kidney. Hypoxia is a condition characterized by insuffi-ci......
5-Formyluracil targeted biochemical reactions with proteins inhibit DNA replication,induce mutations
Covalent DNA-protein cross-links are toxic DNA lesions that interfere with essential biological processes,which can caus......
目的:对天津市新型冠状病毒肺炎(Coronavirus Disease 2019, COVID-19)国内感染和境外输入确诊病例的上呼吸道标本进行新型冠状病......
目的:揭示甘肃省境外输入新型冠状病毒肺炎(Coronavirus Disease 2019, COVID-19)病例新型冠状病毒(2019 novel coronavirus, 2019......
目的:探讨n JAK2 V617F基因突变呈阴性原发性血小板增多症(ET)患儿的临床、实验室检查及基因突变特征。n 方法:选择2017......
Genetic Prion Disease:Insight from the Features and Experience of China National Surveillance for Cr
Human genetic prion diseases(gPrDs)are directly associated with mutations and insertions in the PRNP(Prion Protein)gene.......
The molecular control of meiotic double-strand break(DSB)formation and its significance in human inf
Meiosis is an essential step in gametogenesis which is the key process in sexually reproducing organisms as meiotic aber......
Biodiversity-based development and evolution:the emerging research systems in model and non-model or
Evolutionary developmental biology,or Evo-Devo for short,has become an established field that,broadly speaking,seeks to ......
Analysis of Mutations of Two Gitelman Syndrome Family SLC12A3 Genes and Proposed Treatments Using Ch
Objective:To determine the gene location of two Gitelman syndrome (GS) family SLC12A3 genes and explore treatments using......
Epilepsy is one of the most common neurological diseases.Of all cases,70％-80％ are considered to be due to genetic factors.......
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In this study,we investigated the genetics,clinical features,and therapeutic approach of 14 patients with 5α-reductase ......
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Objective: To investigate the mutation and its treatment measures in a paternity case detecting short tandem repeat (STR......
Mutation by Co60 Irradiation Method and Fermentation of Trichoderma Viride for High Cellulase Activi
Trichoderma viride 3.2941 was mutated by Co60 irradiation method and selected by methyl-red plate with cellulose.13 muta......
Introduction NLRC5 (NLR family,CARD domain containing 5),known as a new type of NOD-like receptor,can effectively inhibi......
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Cross-resistance patterns to ACCase-inhibitors in American sloughgrass (Beckmannia syzigachne Steud.
American sloughgrass is a troublesome annual grass weed in winter wheat field rotated with rice in China.The overrelianc......
Growth hormone-releasing hormone (GHRH) is secreted by the hypothalamus and stimulates growth hormone (GH) released from......
Assessment of Haplotype Variation in Bovine AMPD1 Gene for Association with Growth and Carcass Trait
The AMPD1 gene plays an important role in the purine nucleotide cycle and energy metabolism in skeletal muscle.In the pr......
Asian minor bluegrass (Polypogonfugax) is a common annual grass weed of winter crops distributed all over China.Here we ......
Sequence and phylogenetic analyses of the envelope and membrane gene of porcine epidemic diarrhea vi
Outbreaks of porcine epidemic diarrhea (PED) in suckling piglets emerged in Jiangxi, China.In order to investigate the e......
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Objective The MAPK signaling pathway plays a significant role in mediating cellular physiological activity,such as proli......
Comparison of hotspot mutations between primary lung adenocarcinoma and different metastatic sites i
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Objective Background: Ubiquitin-ligase Fbw7 can induce degradation of many proto-oncogenes and suppress tumor.This aim o......
Congenital hypomyelinating leukodystrophies(HLDs)is a spectrum of genetic disorders with deficiency of myelin substantia......
EGFR mutation is associated with histologic subtype according to the IASLC/ATS/ERS adenocarcinoma cl
目的： In 2011, the International Association for the Study of Lung Cancer, American Thoracic Society and European Respira......
Characterization of a CRYBB2 nonsense mutation associated with autosomal dominant congenital catarac
Purpose We sought to identify the genetic defect in a three-generations of a Chinese family affected with bilateral punc......
Purpose To identify the pathogenic mutation responsible for autosomal dominan congenital cataract(ADCC)in a Chinese pedi......
The distal arthrogryposis(DA)syndromes are a group of disorders featured by congenital contractures of limbs.According t......
Highly pathogenic avian influenza A virus H5N1 continues to spread among poultry and has frequently broken the species b......
