The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history.It was established about 60 years ago.After the division of pediatric neurology(DPN) had been established in 1960...The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history.It was established about 60 years ago.After the division of pediatric neurology(DPN) had been established in 1960s,it had been assigned to cover genetic disorders.During the recent 20 years,efforts have been put on three aspects:(1)Pediatric neurology clinical service and education;(2)research studies of childhood epilepsies and pediatric neurogenetic disorders;and (3) development of a strong DPN team to establish a comprehensive pediatric neurological program.In this paper,we reviewed the history of the pediatric neurology division in our department,our clinical and research work and achievements for neurogenetic diseases.展开更多
2016年10月Nature Genetics在线发表了北京大学第一医院皮肤性病科杨勇、林志淼课题组与清华大学谭旭课题组合作的研究成果,题为＂Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragilit...2016年10月Nature Genetics在线发表了北京大学第一医院皮肤性病科杨勇、林志淼课题组与清华大学谭旭课题组合作的研究成果,题为＂Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility＂。该研究在国际上确定了遗传性大疱性表皮松解症（epidermolysis bullosa,EB）的一种新致病基因KLHL24及其全新发病机制，同时，研究还发现，KLHL24是皮肤结构分化形成及蛋白代谢稳态的重要调节基因，揭示了皮肤角蛋白泛素化的信号传导通路，为角蛋白异常性疾病治疗提供了新途径。展开更多
文摘The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history.It was established about 60 years ago.After the division of pediatric neurology(DPN) had been established in 1960s,it had been assigned to cover genetic disorders.During the recent 20 years,efforts have been put on three aspects:(1)Pediatric neurology clinical service and education;(2)research studies of childhood epilepsies and pediatric neurogenetic disorders;and (3) development of a strong DPN team to establish a comprehensive pediatric neurological program.In this paper,we reviewed the history of the pediatric neurology division in our department,our clinical and research work and achievements for neurogenetic diseases.
文摘2016年10月Nature Genetics在线发表了北京大学第一医院皮肤性病科杨勇、林志淼课题组与清华大学谭旭课题组合作的研究成果,题为＂Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility＂。该研究在国际上确定了遗传性大疱性表皮松解症（epidermolysis bullosa,EB）的一种新致病基因KLHL24及其全新发病机制，同时，研究还发现，KLHL24是皮肤结构分化形成及蛋白代谢稳态的重要调节基因，揭示了皮肤角蛋白泛素化的信号传导通路，为角蛋白异常性疾病治疗提供了新途径。
