Dear Editor,I am Dr.Ungsoo Samuel Kim.from Kim＇s Eye Hospital,Konyang University,Seoul,Korea.I write to present a novel mutation of GPR143 in Korean patients with X-linked congenital nystagmus by using exome sequenci...Dear Editor,I am Dr.Ungsoo Samuel Kim.from Kim＇s Eye Hospital,Konyang University,Seoul,Korea.I write to present a novel mutation of GPR143 in Korean patients with X-linked congenital nystagmus by using exome sequencing.Congenital nystagmus is an inherited ocular disorder that can occur as an X-linked condition.展开更多
Codon nonsense mutations include amber, ochre, or opal mutations according to termination codon consisting of three types (TAG, TAA and TGA). Codon nonsense mutations are also divided into natural and artificial mutat...Codon nonsense mutations include amber, ochre, or opal mutations according to termination codon consisting of three types (TAG, TAA and TGA). Codon nonsense mutations are also divided into natural and artificial mutations. We discussed the interaction of codon nonsense mutations and suppressor tRNAs in vitro and in vivo. Nonsense suppressions do not only happen in prokaryotes but also in eukaryotes. Meanwhile, the misreading of termination codon and in-corporation of nonnatural amino acids into proteins are also introduced.展开更多
BACKGROUND Hereditary spherocytosis(HS)is characterized by anemia,jaundice,splenomegaly,and cholelithiasis,and is caused by abnormal genes encoding red blood cell membrane components.The most common mutations found in...BACKGROUND Hereditary spherocytosis(HS)is characterized by anemia,jaundice,splenomegaly,and cholelithiasis,and is caused by abnormal genes encoding red blood cell membrane components.The most common mutations found in HS are in the ANK1 gene.CASE SUMMARY A 4-mo-old girl was admitted to our hospital with pallor that had lasted for more than 2 mo.She presented with jaundice,anemia and splenomegaly.A heterozygous mutation of ANK1(exon23:c.G2467T:p.E823X)was identified,and the mutation was determined to be autosomal dominant.This mutation is linked to the relatively serious anemia she had after birth;this anemia improved with age.CONCLUSION The utilization of next-generation sequencing may assist with the accurate diagnosis of HS,especially in atypical cases.展开更多
＂Every saint has a past, every sinner has a future, so we＇ll keep working.＂
——“每个圣人都有过去，每个罪人都有未来。”不久前．美国微软公司创始人比尔·盖茨和“股神”沃伦·巴菲特联手呼吁美国富豪捐出至少一...＂Every saint has a past, every sinner has a future, so we＇ll keep working.＂
——“每个圣人都有过去，每个罪人都有未来。”不久前．美国微软公司创始人比尔·盖茨和“股神”沃伦·巴菲特联手呼吁美国富豪捐出至少一半个人财富用于慈善。此前．二人已分别捐出绝大多数个人财富．巴菲特捐出99％的个人财富．盖茨则承诺把大多数财富交由自己的慈善基金会处理。如今，40名资产超过10亿美元的美国富豪承诺将捐出至少一半财富，用于慈善事业．响应盖茨和巴菲特先前联手发起的号召。展开更多
＂I＇m outraged. It＇s hard for me tobelieve they would treat the family the way they have, which has been abysmally.＂——爱因斯坦1955年去世时，将其7．5万页的手稿版权和其他资产捐给了以色列耶路撒冷希伯来大学。该大学...＂I＇m outraged. It＇s hard for me tobelieve they would treat the family the way they have, which has been abysmally.＂——爱因斯坦1955年去世时，将其7．5万页的手稿版权和其他资产捐给了以色列耶路撒冷希伯来大学。该大学同时拥有他的肖像权．每年，用爱因斯坦肖像制作的视频、摇头玩偶以及万圣节面具等产品，都能产生数百万美元的效益。展开更多
＂We ask for their understanding. We are correcting deficiencies that we have noted in the implementation of our operating procedures, and none of us wanted this outcome.＂
——8月23日发生在马尼拉的劫持人质事件，警...＂We ask for their understanding. We are correcting deficiencies that we have noted in the implementation of our operating procedures, and none of us wanted this outcome.＂
——8月23日发生在马尼拉的劫持人质事件，警方与劫匪对峙十多个小时，但仍造成8名香港游客死亡。事件引起香港公众对菲律宾当局和警方的强烈愤怒。菲律宾警方承认参与营救行动的警察团队训练不够，团队领导无能．营救行动计划不周。同时．菲律宾总统阿基诺三世就自己在24日的新闻发布会上面露笑容道歉．称他当时在“表达愤怒，没有其他任何意思”，并希望得到港人的谅解。展开更多
High-molecular-weight glutenin subunits(HMW-GSs) are the most critical grain storage proteins that determine the unique processing qualities of wheat. Although it is a part of the superior HMW-GS pair(Dx5+Dy10), the c...High-molecular-weight glutenin subunits(HMW-GSs) are the most critical grain storage proteins that determine the unique processing qualities of wheat. Although it is a part of the superior HMW-GS pair(Dx5+Dy10), the contribution of the Dy10 subunit to wheat processing quality remains unclear. In this study, we elucidated the effect of Dy10 on wheat processing quality by generating and analyzing a deletion mutant(with the Dy10-null allele), and by elucidating the changes to wheat flour following the incorporation of purified Dy10. The Dy10-null allele was transcribed normally,but the Dy10 subunit was lacking. These findings implied that the Dy10-null allele reduced the glutenin:gliadin ratio and negatively affected dough strength(i.e., Zeleny sedimentation value, gluten index, and dough development and stability times) and the bread-making quality;however, it positively affected the biscuit-making quality. The incorporation of various amounts of purified Dy10 into wheat flour had a detrimental effect on biscuit-making quality. The results of this study demonstrate that the Dy10 subunit is essential for maintaining wheat dough strength. Furthermore, the Dy10-null allele may be exploited by soft wheat breeding programs.展开更多
文摘Dear Editor,I am Dr.Ungsoo Samuel Kim.from Kim＇s Eye Hospital,Konyang University,Seoul,Korea.I write to present a novel mutation of GPR143 in Korean patients with X-linked congenital nystagmus by using exome sequencing.Congenital nystagmus is an inherited ocular disorder that can occur as an X-linked condition.
文摘Codon nonsense mutations include amber, ochre, or opal mutations according to termination codon consisting of three types (TAG, TAA and TGA). Codon nonsense mutations are also divided into natural and artificial mutations. We discussed the interaction of codon nonsense mutations and suppressor tRNAs in vitro and in vivo. Nonsense suppressions do not only happen in prokaryotes but also in eukaryotes. Meanwhile, the misreading of termination codon and in-corporation of nonnatural amino acids into proteins are also introduced.
基金Supported by the Natural Science Foundation of Shanghai Science Committee,No.18ZR1431200Research Foundation of Shanghai Municipal Health Commission,No.20194Y0112Clinical Research Plan of SHDC,No.SHDC2020CR4089.
文摘BACKGROUND Hereditary spherocytosis(HS)is characterized by anemia,jaundice,splenomegaly,and cholelithiasis,and is caused by abnormal genes encoding red blood cell membrane components.The most common mutations found in HS are in the ANK1 gene.CASE SUMMARY A 4-mo-old girl was admitted to our hospital with pallor that had lasted for more than 2 mo.She presented with jaundice,anemia and splenomegaly.A heterozygous mutation of ANK1(exon23:c.G2467T:p.E823X)was identified,and the mutation was determined to be autosomal dominant.This mutation is linked to the relatively serious anemia she had after birth;this anemia improved with age.CONCLUSION The utilization of next-generation sequencing may assist with the accurate diagnosis of HS,especially in atypical cases.
文摘＂Every saint has a past, every sinner has a future, so we＇ll keep working.＂
——“每个圣人都有过去，每个罪人都有未来。”不久前．美国微软公司创始人比尔·盖茨和“股神”沃伦·巴菲特联手呼吁美国富豪捐出至少一半个人财富用于慈善。此前．二人已分别捐出绝大多数个人财富．巴菲特捐出99％的个人财富．盖茨则承诺把大多数财富交由自己的慈善基金会处理。如今，40名资产超过10亿美元的美国富豪承诺将捐出至少一半财富，用于慈善事业．响应盖茨和巴菲特先前联手发起的号召。
文摘＂I＇m outraged. It＇s hard for me tobelieve they would treat the family the way they have, which has been abysmally.＂——爱因斯坦1955年去世时，将其7．5万页的手稿版权和其他资产捐给了以色列耶路撒冷希伯来大学。该大学同时拥有他的肖像权．每年，用爱因斯坦肖像制作的视频、摇头玩偶以及万圣节面具等产品，都能产生数百万美元的效益。
文摘＂We ask for their understanding. We are correcting deficiencies that we have noted in the implementation of our operating procedures, and none of us wanted this outcome.＂
——8月23日发生在马尼拉的劫持人质事件，警方与劫匪对峙十多个小时，但仍造成8名香港游客死亡。事件引起香港公众对菲律宾当局和警方的强烈愤怒。菲律宾警方承认参与营救行动的警察团队训练不够，团队领导无能．营救行动计划不周。同时．菲律宾总统阿基诺三世就自己在24日的新闻发布会上面露笑容道歉．称他当时在“表达愤怒，没有其他任何意思”，并希望得到港人的谅解。
基金supported by the National Natural Science Foundation of China (31971939, 32072054, and 31901961)the Science and Technology Department of Sichuan Province, China (2019YFH0066 and 2020YFH0150)the Designing Future Wheat Strategic Program of the UK (BB/P016855/1)。
文摘High-molecular-weight glutenin subunits(HMW-GSs) are the most critical grain storage proteins that determine the unique processing qualities of wheat. Although it is a part of the superior HMW-GS pair(Dx5+Dy10), the contribution of the Dy10 subunit to wheat processing quality remains unclear. In this study, we elucidated the effect of Dy10 on wheat processing quality by generating and analyzing a deletion mutant(with the Dy10-null allele), and by elucidating the changes to wheat flour following the incorporation of purified Dy10. The Dy10-null allele was transcribed normally,but the Dy10 subunit was lacking. These findings implied that the Dy10-null allele reduced the glutenin:gliadin ratio and negatively affected dough strength(i.e., Zeleny sedimentation value, gluten index, and dough development and stability times) and the bread-making quality;however, it positively affected the biscuit-making quality. The incorporation of various amounts of purified Dy10 into wheat flour had a detrimental effect on biscuit-making quality. The results of this study demonstrate that the Dy10 subunit is essential for maintaining wheat dough strength. Furthermore, the Dy10-null allele may be exploited by soft wheat breeding programs.
