原发性小头畸形及相关疾病的分子原因：联合国国际事务管理局研讨会报告。

IF 2.5 4区生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Chromosoma Pub Date : 2020-06-01 Epub Date: 2020-05-18 DOI:10.1007/s00412-020-00737-6

Travis H Stracker, Ciaran G Morrison, Fanni Gergely

{"title":"原发性小头畸形及相关疾病的分子原因：联合国国际事务管理局研讨会报告。","authors":"Travis H Stracker, Ciaran G Morrison, Fanni Gergely","doi":"10.1007/s00412-020-00737-6","DOIUrl":null,"url":null,"abstract":"The International University of Andalucía (UNIA) Current Trends in Biomedicine Workshop on Molecular Causes of Primary Microcephaly and Related Diseases took place in Baeza, Spain, November 18-20, 2019. This meeting brought together scientists from Europe, the USA and China to discuss recent advances in our molecular and genetic understanding of a group of rare neurodevelopmental diseases characterised by primary microcephaly, a condition in which head circumference is smaller than normal at birth. Microcephaly can be caused by inherited mutations that affect key cellular processes, or environmental exposure to radiation or other toxins. It can also result from viral infection, as exemplified by the recent Zika virus outbreak in South America. Here we summarise a number of the scientific advances presented and topics discussed at the meeting.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":null,"pages":null},"PeriodicalIF":2.5000,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Molecular causes of primary microcephaly and related diseases: a report from the UNIA Workshop.\",\"authors\":\"Travis H Stracker, Ciaran G Morrison, Fanni Gergely\",\"doi\":\"10.1007/s00412-020-00737-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The International University of Andalucía (UNIA) Current Trends in Biomedicine Workshop on Molecular Causes of Primary Microcephaly and Related Diseases took place in Baeza, Spain, November 18-20, 2019. This meeting brought together scientists from Europe, the USA and China to discuss recent advances in our molecular and genetic understanding of a group of rare neurodevelopmental diseases characterised by primary microcephaly, a condition in which head circumference is smaller than normal at birth. Microcephaly can be caused by inherited mutations that affect key cellular processes, or environmental exposure to radiation or other toxins. It can also result from viral infection, as exemplified by the recent Zika virus outbreak in South America. Here we summarise a number of the scientific advances presented and topics discussed at the meeting.\",\"PeriodicalId\":10248,\"journal\":{\"name\":\"Chromosoma\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2020-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Chromosoma\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1007/s00412-020-00737-6\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2020/5/18 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Chromosoma","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s00412-020-00737-6","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/5/18 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

安达卢西亚国际大学（UNIA）原发性小头畸形及相关疾病分子原因生物医学当前趋势研讨会于2019年11月18日至20日在西班牙巴埃萨举行。来自欧洲、美国和中国的科学家齐聚一堂，讨论了我们对一组罕见神经发育疾病的分子和遗传学认识的最新进展，这些疾病的特征是原发性小头畸形，即出生时头围小于正常值。小头畸形可由影响关键细胞过程的遗传突变、环境辐射或其他毒素引起。病毒感染也可能导致小头畸形，最近南美洲爆发的寨卡病毒就是一例。在此，我们总结了会议上介绍的一些科学进展和讨论的主题。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Molecular causes of primary microcephaly and related diseases: a report from the UNIA Workshop.

The International University of Andalucía (UNIA) Current Trends in Biomedicine Workshop on Molecular Causes of Primary Microcephaly and Related Diseases took place in Baeza, Spain, November 18-20, 2019. This meeting brought together scientists from Europe, the USA and China to discuss recent advances in our molecular and genetic understanding of a group of rare neurodevelopmental diseases characterised by primary microcephaly, a condition in which head circumference is smaller than normal at birth. Microcephaly can be caused by inherited mutations that affect key cellular processes, or environmental exposure to radiation or other toxins. It can also result from viral infection, as exemplified by the recent Zika virus outbreak in South America. Here we summarise a number of the scientific advances presented and topics discussed at the meeting.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Chromosoma 生物-生化与分子生物学

CiteScore

3.30

自引率

6.20%

发文量

审稿时长

1 months

期刊介绍： Chromosoma publishes research and review articles on the functional organization of the eukaryotic cell nucleus, with a particular emphasis on the structure and dynamics of chromatin and chromosomes; the expression and replication of genomes; genome organization and evolution; the segregation of genomes during meiosis and mitosis; the function and dynamics of subnuclear compartments; the nuclear envelope and nucleocytoplasmic interactions, and more. The scope of Chromosoma encompasses genetic, biophysical, molecular and cell biological studies. Average time from receipt of contributions to first decision: 22 days Publishes research and review articles on the functional organization of the eukaryotic cell nucleus Topics include structure and dynamics of chromatin and chromosomes; the expression and replication of genomes; genome organization and evolution; the segregation of genomes during meiosis and mitosis and more Encompasses genetic, biophysical, molecular and cell biological studies.