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

DOI：

10.1002/aur.3308

基金类别：

This study was supported by the National Natural Science Foundation of China (Grants 82130043, 82330035, and 82361138573 to K.X.; Grants 32271141 and 82222025 to H.G.; Grant 82401388 to X.J.); Natural Science Foundation of Hunan Province (Grants 2023SK2114 and 2021SK1010 to K.X.; Grants 2023SK2084 and 2023RC1020 to H.G.; Grant 2024JJ6545 to X.J.); China Postdoctoral Science Foundation (Grant 2023M733969 to X.J.); Postdoctoral Fellowship Program of CPSF (Grant GZB20230875 to X.J.). The first two authors contributed equally to this work.

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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