deletion相关论文
MamZ protein plays an essential role in magnetosome maturation process of Magnetospirillum gryphiswa
Based on analysis of gene structure of mamXY operon in Magnetospirillum gryphiswaldense strain MSR-1,we constructed a ma......
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Objective: To genetic analysis the CYP21A2 of seven patients with congenital adrenal hyperplasia and their parents.Metho......
Molecular and immunohistochemical study of the inactivation of the pl6 gene in primary hepatocellula
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STI571 (Glivec) suppresses the expression of vascular endothelial growth factor in the gastrointesti
AIM:To estimate whether STI571 inhibits the expressionof vascular endothelial growth factor(VEGF)in thegastrointestinal......
AIM:To molecularly characterize hepatitis B virus(HBV)isolates from Kerala and to relate them to the clinical manifestat......
Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.Methods......
Hepatocellular carcinoma(HCC)is one of the leading causes of death induced by cancer in the modern world and majority of......
运用大肠杆菌Red同源重组系统，对禽致病性大肠杆菌（Avian pathogenic Escherichia coli，APEC）DE02株的ibeA基因进行了缺失，其结果为揭示......
目的 对多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)诊断染色体22q11.2微缺失结果进行评价.方法 ......
目的对120例假肥大型进行性肌营养不良（DMD/BMD）疑诊患者进行基因诊断,探讨云南人群DMD基因的缺失分布特点。方法应用多重PCR法对200......
A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental
The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental(OFCD)sy......
The function of the 3 040 bp sequence at the upstream translation starting site (ATG) of the ZAG2 gene, isolated from th......
Primed In Situ Labeling Technique for Subtelomeric Rearrangements in 70 Children with Idiopathic Men
Subtelomeric rearrangements contribute to idiopathic mental retardation(MR),but most children with idiopathic MR do not ......
A series of novel benzocycloheptene derivatives have been synthesized.Their structures were confirmed by MS and ~1H-NMR.......
Two novel VPS33B mutations in a patient with arthrogryposis,renal dysfunction and cholestasis syndro
Arthrogryposis,renal dysfunction and cholestasis(ARC)syndrome is a rare genetic disorder and has not been described in C......
Natural products are often secondary metabolites in living organisms with a wide variety of biological activities. The d......
Cystic fibrosis, a common autosomal recessive genetic disorder among Caucasians, is caused by defects in the transmembra......
AIM: To investigate renin expression in pericytes during normal kidney development and after deletion of angiotensinogen......
Hepatic phenotypes of HNF1B gene mutations:A case of neonatal cholestasis requiring portoenterostomy
Hepatocyte nuclear factor 1-β(HNF1B)defects cause renal cysts and diabetes syndrome(RCAD),or HNF1B-maturity-onset diabe......
Objective: To explore the loss of heterozygosity(LOH) on chromosome 6q in ovarian cancer, and localize a minimum area in......
Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-perform
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder (1 in 6000 to 10 000 births) caused......
Objective: Duchenne and Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutations ......
Neonatal sepsis is common in neonatal intensive care units,often complicated by injury to the immature brain. Previous s......
Objective To develop a multiplex PCR protocol for routine screening of microdeletions on the Y chromosome Methods Five m......
The plasmid-expression system is routinely plagued by potential plasmid instability. Chromosomal integration is one powe......
The transcription factor forkhead box protein A2(FOXA2, also known as hepatocyte nuclear factor 3β or transcription fac......
RELATIONSHIP AMONG MYOCARDIAL INFARCTION, INSERTION/DELETION POLYMORPHISM OF FVII GENE PROMOTER REGI
Objective To explore the relationship among myocardial infarction (MI) , promoter regionpolymorphism of FVII gene and F......
Background The ADRA2B gene insertion/deletion (I/D) polymorphism is associated with various cardiovascular and metabolic......
Recurrent genomic imbalances at 16p 11.2 are genetic risk factors of variable penetrance for developmental delay and aut......
Alterations of mtDNA copy number and 4977 bp deletion induced by ionizing radiation in human periphe
Alterations of mitochondria DNA(mtDNA)4977 bp common deletion(CD)and mtDNA copy number induced by ionizing radiation wer......
Bats as Animal Reservoirs for the SARS Coronavirus:Hypothesis Proved After 10 Years of Virus Hunting
Recently,the team led by Dr.Zhengli Shi from Wuhan Institute of Virology,Chinese Academy of Sciences,and Dr.Peter Daszak......
Induction of deletion mutation on ompR gene of Salmonella enterica serovar Typhi isolates from asymp
Objective:To develop allenualed slrains of Salmonella enterica serorar Typhi(S.typhi) for the candidate vaccine by osmol......
Alpha1-antitrypsin deficiency is an autosomal recessive disease characterized by reduced serum levels of alpha1-antitryp......
AIM:To generate a Gpr128 gene knockout mouse model and to investigate its phenotypes and the biological function of the ......
An Old Story Retold: Loss of G1 Control Defines A Distinct Genomic Subtype of Esophageal Squamous Ce
Esophageal squamous cell carcinoma(ESCC) has a high mortality rate. To determine the molecular basis of ESCC development......
The role of ribosomal proteins in the regulation of cell proliferation, tumorigenesis, and genomic i
Ribosomal proteins(RPs), the essential components of the ribosome, are a family of RNA-binding proteins, which play prim......
Objective:To investigate the role of glutathione S-transferase (GST) genetic variants and markers of oxidative stress an......
Association between SNP rs10569304 on the Second Expressed Region of Hole Gene and the Congenital He
The correlation of single nucleotide polymorphism (SNP) rs10569304 on the second expressed region of hole gene and conge......
Systemic lupus erythematosus(SLE) is a debilitating autoimmune disease that can involve multi-organs. B cells play a cen......
Purpose: The purpose of this paper is to discuss provenance description of metadata terms and metadata vocabularies as a......
Conventional PCR methods combined with linkage analysis based on short tandem repeats(STRs) or Karyomapping with single ......
The V1 region of gp120 is preferentially selected during SIV/HIV transmission and is indispensable f
A transmission bottleneck occurs during each human immunodeficiency virus(HIV) transmission event, which allows only a f......
Human immunodeficiency virus-1(HIV-1) encodes 15 viral proteins. Protein-protein interactions play a large role in the f......
Complex congenital disorders may be caused by multiple genetic alterations and/or environmental hazards.Diagnosis and ma......
This paper proposes an algorithm for road density analysis based on skeleton partitioning. Road density provides metric ......
The TK-selected chromosome-mediate gene transferlines were analysed using DNA dot blot method,G-11banding and in situ hy......
