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Aberrant NRXN1α Splicing Arising from 2p16.3 Heterozygous Deletions Impacts Neuronal Function

机译：从2P16.3杂合缺失产生的异常NRXN1α剪接影响神经元功能

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作者
Flaherty, Erin.;
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作者单位

Icahn School of Medicine at Mount Sinai.;

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授予单位 Icahn School of Medicine at Mount Sinai.;
学科
学位 Ph.D.
年度 2019
页码 149 p.
总页数 149
原文格式 PDF
正文语种 eng
中图分类
关键词
Neurexin; Neuropsychiatric genetics; hiPSC;

机译：neurexin;神经精神遗传学;HIPSC.;

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专利

1. Neuronal impact of patient-specific aberrant NRXN1 alpha splicing [J] . Flaherty Erin, Zhu Shijia, Barretto Natalie, Nature Genetics . 2019,第12期

机译：患者特异性异常NRXN1α剪接的神经元影响
2. Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1 [J] . Pak ChangHui, Danko Tamas, Zhang Yingsha, Cell stem cell . 2015,第3期

机译：人类神经精神疾病建模使用条件删除揭示了由NRXN1杂合突变引起的突触传递缺陷。
3. A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1 [J] . AghaZ., IqbalZ., AzamM., Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2014,第1期

机译：巴基斯坦家庭中的复杂小头畸形综合征，与RBBP8的新型错义突变和NRXN1的杂合缺失有关
4. Interactions Between Chemical Functionality and Nanoscale Surface Topography Impact Fibronectin Conformation and Neuronal Differentiation on Model Sol-Gel Silica Substrates [C] . Sabrina Jedlicka, Silas J. Leavesley, Kenneth M. Little, Materials Research Society Symposium on Biosurfaces and Biointerfaces . 2006

机译：化学功能与纳米级表面形貌之间的相互作用影响溶胶 - 凝胶二氧化硅基材的纤连蛋白构象和神经元分化
5. Functional effects of splice variation on the neuronal alpha1D calcium channels. [D] . Safa, Parsa. 2002

机译：剪接变异对神经元alpha1D钙通道的功能影响。
6. Human Neuropsychiatric Disease Modeling Using Conditional Deletion Reveals Synaptic Transmission Defects Caused By Heterozygous Mutations in NRXN1 [O] . ChangHui Pak, Tamas Danko, Yingsha Zhang, -1

机译：使用条件删除的人类神经精神疾病建模揭示了由NRXN1杂合突变引起的突触传递缺陷。
7. Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1 [O] . Pak ChangHui, Danko Tamas, Zhang Yingsha, 2015

机译：使用条件删除的人类神经精神疾病建模揭示了由NRXN1杂合突变引起的突触传递缺陷。

Aberrant NRXN1α Splicing Arising from 2p16.3 Heterozygous Deletions Impacts Neuronal Function

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