Peng Qiongling相关文献与解析，生知库 | 链接生命科学的每一步

A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies Î²-propeller protein-associated neurodegeneration (BPAN).

WDR45 基因的 c.726C>G (p.Tyr242Ter) 无义突变与剪接改变 (NASA) 相关，是 β-螺旋桨蛋白相关神经退行性疾病 (BPAN) 的根本原因

期刊:Heliyon

影响因子:3.6

doi:10.1016/j.heliyon.2024.e30438

Peng Qiongling, Cui Ying, Wu Jin, Wu Lianying, Liu Jiajia, Han Yangyun, Lu Guanting

神经科学

发表日期：2024

文献求助收藏

A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing

同义变异通过影响前体mRNA剪接，导致一种罕见的维德曼-劳滕施特拉赫综合征，并伴有轻度贫血。

期刊:Frontiers in Molecular Neuroscience

影响因子:3.8

doi:10.3389/fnmol.2022.1026530

Peng, Qiongling; Zhang, Yan; Xian, Binqiang; Wu, Lianying; Ding, Jianying; Ding, Wuwu; Zhang, Xin; Ding, Bilan; Li, Ding; Wu, Jin; Hu, Xiaowu; Lu, Guanting

A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies

一种导致神经发育障碍（伴有面部畸形和远端骨骼异常）的全新 ZMIZ1 致病变异

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2022.840577

Lu, Guanting; Ma, Liya; Xu, Pei; Xian, Binqiang; Wu, Lianying; Ding, Jianying; He, Xiaoyan; Xia, Huiyun; Ding, Wuwu; Yang, Zhirong; Peng, Qiongling

Restricted Kinematics in Children With Autism in the Execution of Complex Oscillatory Arm Movements

自闭症儿童在执行复杂摆动手臂运动时的运动学受限

期刊:Frontiers in Human Neuroscience

影响因子:2.7

doi:10.3389/fnhum.2021.708969

Zhao, Zhong; Zhang, Xiaobin; Tang, Haiming; Hu, Xinyao; Qu, Xingda; Lu, Jianping; Peng, Qiongling

Altered composition and function of intestinal microbiota in autism spectrum disorders: a systematic review

自闭症谱系障碍患者肠道菌群组成和功能的改变：系统性综述

期刊:Translational Psychiatry

影响因子:6.2

doi:10.1038/s41398-019-0389-6

Liu, Feitong; Li, Jie; Wu, Fan; Zheng, Huimin; Peng, Qiongling; Zhou, Hongwei

Protocol to study the effects of mutations near splicing sites on pre-mRNA splicing.

研究剪接位点附近突变对前体mRNA剪接影响的方案

A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies Î²-propeller protein-associated neurodegeneration (BPAN).

WDR45 基因的 c.726C>G (p.Tyr242Ter) 无义突变与剪接改变 (NASA) 相关，是 β-螺旋桨蛋白相关神经退行性疾病 (BPAN) 的根本原因

A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing

同义变异通过影响前体mRNA剪接，导致一种罕见的维德曼-劳滕施特拉赫综合征，并伴有轻度贫血。

A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies

一种导致神经发育障碍（伴有面部畸形和远端骨骼异常）的全新 ZMIZ1 致病变异

Restricted Kinematics in Children With Autism in the Execution of Complex Oscillatory Arm Movements

自闭症儿童在执行复杂摆动手臂运动时的运动学受限

Altered composition and function of intestinal microbiota in autism spectrum disorders: a systematic review

自闭症谱系障碍患者肠道菌群组成和功能的改变：系统性综述