Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development

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作者信息关键词期刊信息基础信息归属信息摘要

成果类型：

期刊论文

作者：

He, Mei;Du, Bing;Chen, Guodong;Lyu, Yongqing;Guo, Hui;...

通讯作者：

Jia, Xiangbin;Xia, K

作者机构：

[He, Mei; Du, Bing; Guo, Hui; Jia, Xiangbin; Xia, K; Chen, Guodong; Xia, Kun; Lyu, Yongqing] Cent South Univ, Ctr Med Genet, MOE Key Lab Rare Pediat Dis,Sch Life Sci, Changsha, Peoples R China.

[He, Mei; Du, Bing; Guo, Hui; Jia, Xiangbin; Xia, K; Chen, Guodong; Xia, Kun; Lyu, Yongqing] Cent South Univ, Sch Life Sci, Hunan key Lab Med Genet, Changsha, Hunan, Peoples R China.

[He, Mei] Hunan Prov Maternal & Child Hlth Care Hosp, NHC Key Lab Birth Defect Res & Prevent, Changsha, Hunan, Peoples R China.

[Guo, Hui] Furong Lab, Changsha, Hunan, Peoples R China.

[Xia, K; Xia, Kun] Univ South China, Hengyang Med Sch, Hengyang 421001, Hunan, Peoples R China.

通讯机构：

[Jia, XB; Xia, K ] C

Cent South Univ, Ctr Med Genet, MOE Key Lab Rare Pediat Dis,Sch Life Sci, Changsha, Peoples R China.

Cent South Univ, Sch Life Sci, Hunan key Lab Med Genet, Changsha, Hunan, Peoples R China.

Univ South China, Hengyang Med Sch, Hengyang 421001, Hunan, Peoples R China.

语种：

英文

关键词：

autism spectrum disorders;brain development;de novo mutations;NAA15;neurodevelopmental disorders

期刊：

Autism Research

ISSN：

1939-3792

年：

2025

卷：

期：

页码：

954-965

DOI：

10.1002/aur.3308

基金类别：

Xiangya Hospital, Central South University Xiangya Hospital Furong Laboratory Central South University, CSU High Performance Computing Center of Central South University Central SouthUniversity Bioinformatics Center CPSF, (GZB20230875) National Natural Science Foundation of China, NSFC, (82361138573, 82130043, 82330035, 32271141, 82222025, 82401388) National Natural Science Foundation of China, NSFC Natural Science Foundation of Hunan Province, (2023SK2084, 2021SK1010, 2023SK2114, 2024JJ6545, 2023RC1020) Natural Science Foundation of Hunan Province China Postdoctoral Science Foundation, (2023M733969) China Postdoctoral Science Foundation

机构署名：

本校为通讯机构

院系归属：

医学院

摘要：

Neurodevelopmental disorders (NDDs) encompass a group of conditions that impact brain development and function, exhibiting significant genetic and clinical heterogeneity. NAA15, the auxiliary subunit of the N-terminal acetyltransferase complex, has garnered attention due to its association with NDDs. However, the precise role of NAA15 in cortical development and its contribution to NDDs remain elusive. By employing targeted sequencing on a large Chinese cohort affected by ASD and conducting an extensive literature review, we have compiled 64 distinct variants in the NAA15 gene identified among...

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Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development

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