Gene mutationNeutropeniaSevere congenital neutropenia (SCN) is a rare primary immunodeficiency disease. Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR and G6PC3. The aim of this study was to find different gene mutations responsible for SCN in ...
Mutationsare main divided into two types:static mutationsanddynamic mutations.Static mutations have a stable frequency of gene mutation in each generation, and themutation rate is about 10^(-6).Dynamic mutationrefers to themutation caused bytheincrease of copynumber of base repeatsequenceinDNA, and...
There are several types of mutations that one might observe in "coding" region of a gene. Choose two types of mutations and, briefly, explain what they are and how they differ from each other. For each of these two mutation categories, give an example of ...
Leading cancer experts at the University of Birmingham have solved a long-standing question of how various types of mutations in just one gene cause different types of diseases. A team of scientists at the University's Institute of Cancer and Genomic Sciences, led by Professor Constanze Bonifer, ...
Other types of genetic conditions include mitochondrial inheritance disorders. These conditions are caused by a mutation in nonchromosomal mitochondria DNA. Mitochondria refers to small organelles involved in the process of cellular respiration and is found in plant cytoplasm and animal cells. Included in...
However, the degree of recovered visual function is highly dependent on the function of the chosen optogenetic gene. To investigate the effect on visual function of dual expression of genes with different wavelength sensitivities, we transduced a modified Volvox-derived channelrhodopsin gene (mVChR1) ...
Gene-expression profiles in hereditary breast cancer. Abstract BACKGROUND: Many cases of hereditary breast cancer are due to mutations in either the BRCA1 or the BRCA2 gene. The histopathological changes in th... HEDENFALK,I. - 《New England Journal of Medicine》 被引量: 4212发表: 2001年 ...
By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vW...
The genome data suggest that variations between strains were mainly due to accumulation of SNPs, some of which resulted in gene inactivation. Unique genetic elements that were common between host-adapted phage types were not found. This study advanced our understanding on the evolution and adaptation...
These findings have important implications for therapeutic interventions. "The concept that multiple tissue-specific genetic interactions drive cancer progression demonstrates that no single gene can predict responsiveness of acancerto a particular therapy," says Saur. "In future, it is key to mechanistic...