A tale of two heritable self-healing skin cancers

来源 :Genome Variation in Precision Medicine(第四届《自然遗传》疾病基因组学国际研讨会) | 被引量 : 0次 | 上传用户:169
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
  John Ferguson-Smith reported in 1934 a family of Scottish coal miners with an autosomal dominant self-healing skin cancer known as multiple self-healing squamous epithelioma (MSSE).59 years later in 1993, his son, Malcom Ferguson-Smith mapped the causative locus for this syndrome to the long arm of chromosome 9.In 2011 we identified over a dozen distinct loss-of-function alleles in the TGFbeta receptor 1 gene as being responsible for MSSE.
其他文献
一、武汉大学ABSL-3实验室介绍二、动物生物安全三级实验室的基本要求三、非人灵长类动物实验的特殊要求一、武汉大学ABSL-3实验室介绍2003年,国家发改委、教育部和武汉大学
会议
报告内容1.生物安全与生物危害2.国家标准技术体系和计量3.计量和全球测量与标准体系4.生物计量和微生物计量发展5.结语生物安全·广义上讲,避免有害病原体和基因产品意外伤
会议
一、现状与问题现状:2005年开始,卫生部组织了全国师资力量培训,此后各地也都陆续、逐级开展培训,累计培训上万人次.我国一些高校开设了本科生和研究生实验室生物安全课程,在
会议
您还使用甲醛熏蒸吗?甲醛消毒的风险为什么要采用Bioquell过氧化氢蒸汽(HPV)消毒?√无残留的生物净化√广泛的材料兼容性√快速处理和周转√高效杀灭√环境友好√可验证可重
会议
主要内容一、CNAS简介二、实验室生物安全认可起源和依据三、认可概况四、认可规则和认可程序五、小结CNAS介绍1.中国合格评定国家认可委员会(英文缩写为:CNAS)是根据《中华
会议
  Monogenic Neonatal Diabetes is diagnosed in the first 6 months of life allowing separation from polygenic Type 1 diabetes.Approximately 50% of permanent neo
会议
  Genome-wide association studies (GWAS) have reproducibly associated ~40 common variants with the risk of psoriasis.However, the missing heritability is evid
会议
  Attrition is a major challenge in drug discovery and development with >50% of studies failing in clinical development due to lack of efficacy.Rapid progress
会议
  The major histocompatibility complex (MHC) is one of the most variable and gene-dense region of the human genome.Previously, the MHC Haplotype Project has p
会议
  The identification of genes and genetic variants that predispose individuals to common complex diseases such as cancer, cardiovascular disease and neuropsyc
会议