نتایج جستجو برای: missense

تعداد نتایج: 12396  

2016
Ashish Sachan

The global market for antibody-based drugs is expected to double within a decade given their clinical success against diseases where conventional therapies fail. Our studies of antibody structure and function have revealed subtle differences in the role of VH and VL domains in antigen recognition and virus neutralization functions. Studies of bovine antibody fragments, such as, scFv (single cha...

Introduction: Abortion is a common complication that refers to the early termination of pregnancy with the death of the fetus before the 20th week of pregnancy. Previous studies show that many genes are involved in this disease, including the CX3CR1 gene, which is one of the inflammatory response genes in the immune system. The pathogenicity of these variants was determined in this study using ...

Journal: :Bioscience reports 1983
S D Martinelli T J Roberts

Three genotypically suppressible alleles, a1X4, alcA125, and niaD500, are phenotypically suppressed by aminoglycoside antibiotics. Unsuppressible alleles at these loci are unaffected as are known missense mutations at the yA and gdhA loci. This is consistent with the premise that the suppressible mutations are nonsense and that this highly-allele-specific phenotypic suppression can be used to d...

Journal: :Journal of the American Statistical Association 2005

Journal: :Computational and Mathematical Methods in Medicine 2012

Ch Qin, J Xie J Yao Sh Chen W Wu

Background The aim of this study was to assess the ssociation between human transforming growth factor b receptor,type III (TGFBR3) and idiopathic premature ovarian failure (POF) in a Chinese population. MaterialsAndMethods A total of 112 Chinese women with idiopathic POF and 110 normal controls were examined. DNA samples prepared from blood leukocytes were used as templates for polymerase-chai...

   Background & Objective:  Peroxisome biogenesis disorders (PBDs) are a group of diseases with peroxisomal dysfunction. Wide range of symptoms are associated with the disease which are due to mutations in the PEX genes. The PEX1 mutation occurs in Zellweger syndrome (ZS), a severe autosomal recessive condition with hypotonia, intellectual disability, and hepatic enlargement. The present study ...

Journal: :Journal of bacteriology 1983
E J Murgola F T Pagel

We describe a novel class of missense suppressors that read the codons for lysine at two positions (211 and 234) in the trpA polypeptide of Escherichia coli. The suppressor mutations are highly linked to lysT, a gene for lysine tRNA. The results suggest that the suppressors are misacylated lysine tRNAs that carry glycine or alanine. The mutant codons are apparently suppressed better at position...

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