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The Role of CASK in Neuronal Morphogenesis and Brain Size in Drosophila: A Genetic Model of Human Intellectual Disability With Microcephaly

机译：Cask在果蝇中神经元形态发生和脑大小的作用：微头人智力残疾的遗传模型

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作者
Tello Vega, Judith Arane.;
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作者单位

The University of Arizona.;

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授予单位 The University of Arizona.;
学科
学位 Ph.D.
年度 2018
页码 180 p.
总页数 180
原文格式 PDF
正文语种 eng
中图分类 AAI10932306;
关键词
Brain; Cask; Drosophila; Intellectual disability; Microcephaly; Neuron;

机译：脑;桶;果蝇;智力残疾;微叉;神经元;

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1. SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive defect of mitochondrial morphogenesis characterized by microcephaly, intellectual disability, seizures, and hearing loss [J] . Monaghan Kristin G., Tanaka Akemi J., Cho Megan T., Mitochondrion . 2016,第Null期

机译：通过全外显子组测序鉴定的SPATA5突变导致线粒体形态发生的新型常染色体隐性缺陷，其特征是小头畸形，智力障碍，癫痫发作和听力下降
2. Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease [J] . Santhosh Girirajan, Mike Grotewiel, Sami Amr, Biology Open . 2014,第5期

机译：果蝇和人类的遗传研究支持CISD2，PPT1和CLN3在疾病中协同作用的模型果蝇和人类的遗传研究支持CISD2，PPT1和CLN3在疾病中协同作用的模型CISD2，PPT1和CLN3在疾病中协同作用的模型
3. PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly [J] . Shaheen Ranad, Tasak Monika, Maddirevula Sateesh, Human Genetics . 2019,第3期

机译：PUS7突变在人类中损害假染蛋白，导致智力残疾和微头
4. Talk to Me: The Role of Human-Robot Interaction in Improving Verbal Communication Skills in Students with Autism or Intellectual Disability [C] . David Silvera-Tawil, DanaKai Bradford, Christine Roberts-Yates IEEE International Symposium on Robot and Human Interactive Communication . 2018

机译：与我对话：人机交互在提高自闭症或智障学生口头交流能力中的作用
5. Genetic Requirements for Building a Brain of a Sufficent Size: Insights From Mendelian Congenital Microcephaly Disorders [D] . Brown, Cecilia. 2017

机译：建立足够大的大脑的遗传要求：孟德尔先天性小头畸形的见解
6. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [O] . Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, -1

机译：对41例智障和小头畸形伴桥脑小脑发育不良（MICPCH）的CASK突变和其他遗传病因的综合调查
7. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). [O] . Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, 2017

机译：41例智力残疾和小脑桥脑桥和小脑发育不全（mICpCH）患者的CasK突变和其他遗传病因的综合调查。
8. Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder. Technical Brief Number 23. [R] . 2015

机译：发育障碍，智力残疾和自闭症谱系障碍的基因检测。技术摘要第23号。

The Role of CASK in Neuronal Morphogenesis and Brain Size in Drosophila: A Genetic Model of Human Intellectual Disability With Microcephaly

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