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Yale scientists edit gene mutations in inherited form of anemia
Yale scientists edit gene mutations inherited form anemia
2016/11/4
A Yale-led research team used a new gene editing strategy to correct mutations that cause thalassemia, a form of anemia. Their gene editing technique provided corrections to the mutations and alleviat...
Genetic testing is a useful means of identifying individuals who
are at an increased risk of developing familial cancer. This
information assists such individuals to make lifestyle alterations
and ...
Classification of gene mutations in a children's cancer may point to improved treatments（图）
gene cancer
2014/12/1
Oncology researchers studying gene mutations in the childhood cancer neuroblastoma are refining their diagnostic tools to predict which patients are more likely to respond to drugs called ALK inhibito...
Oligotriche and quaking gene mutations. Phenotypic effects on mouse spermatogenesis and testicular steroidogenesis
Oligotriche quaking gene mutations Phenotypic effects mouse spermatogenesis testicular steroidogenesis
2009/2/10
The phenotypic actions of the oligotriche gene mutation on testicular function have not been elucidated, although it is known that male mice homozygous for the mutation are infertile. In the present...
Leber遗传性视神经病变家系的线粒体基因突变分析Analysis of Mitochondrial Gene Mutations in Pedigrees of Leber′s Hereditary Optic Neuropathy
Leber遗传性视神经病 线粒体DNA 点突变
2007/12/30
摘要为探讨Leber遗传性视神经病变（Leber′s hereditary optic neuropathy，LHON）家系线粒体DNA（mtDNA）常见致病原发突变的频谱,用聚合酶链反应（polymerase chain reaction，PCR）和单链构象多态性（single-stranded conformational polymorphism，SSCP）以及DNA测序的方法，对13个家系...
Congratulation to Margaret Chan Familial and Sporadic GJB2-Related Deafness in Iran: Review of Gene Mutations
Connexin 26 Deafness Autosomal recessive non syndromic hearing loss Iran
2010/4/6
Background: Mutations in the GJB2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations. Here, we have taken togethe...
Screening of the Bruton Tyrosine Kinase (BTK) Gene Mutations in 13 Iranian Patients with Presumed X-Linked Agammaglobulinemia
Agammaglobulinaemia Tyrosine Kinase Bruton's Tyrosine Kinase Iran X-linked Genetic Disease
2010/2/9
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (Btk) gene. In order to identify the mutations in Btk gene in Iranian patients with antibody ...
ATM Gene Mutations Detection in Iranian Ataxia-Telangiectasia Patients
ToAtaxia-Telangiectasia Gene Mutations
2010/2/1
Ataxia-Telangiectasia (AT) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. The ATM gene on human chromosome 11q...