Overexpression of MicroRNA-27b Inhibits Proliferation, Migration, and Invasion via Suppression of MET Expression

por Zhou, Hui, Liu, Yanglin, Xiao, Ling, Hu, Zhengmao, Xia, Kun
Publicado 2017

Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China

por Yu, Changhong, Hu, Zhengmao, Li, Jingzhi, Liu, Ting, Xia, Kun, Xie, Lixin
Publicado 2009

Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration

por Saddala, Madhu Sudhana, Lennikov, Anton, Mukwaya, Anthony, Fan, Lijuan, Hu, Zhengmao, Huang, Hu
Publicado 2019

Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation

por Xu, Xiaojuan, Hu, Zhengmao, Zhang, Lusi, Liu, Hongfang, Cheng, Yuemei, Xia, Kun, Zhang, Xuehong
Publicado 2017

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy

por Zhang, Mingqiu, Chen, Jia, Si, Dayong, Zheng, Yu, Jiao, Haixu, Feng, Zhaohui, Hu, Zhengmao, Duan, Ranhui
Publicado 2014

Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia

por Peng, Yu, Zheng, Yu, Deng, Zifeng, Zhang, Shuju, Tan, Yilan, Hu, Zhengmao, Tao, Lijuan, Luo, Yulin
Publicado 2022

A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred

por Ahmed, Ashfaque, Wang, Meng, Khan, Rizwan, Shah, Abid Ali, Guo, Hui, Malik, Sajid, Xia, Kun, Hu, Zhengmao
Publicado 2021

Expression of expanded GGC repeats within NOTCH2NLC causes cardiac dysfunction in mouse models

por Pan, Yongcheng, Jiang, Ying, Wan, Juan, Hu, Zhengmao, Jiang, Hong, Shen, Lu, Tang, Beisha, Tian, Yun, Liu, Qiong
Publicado 2023

A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report

por Peng, Yu, Wang, Tun, Zheng, Yu, Lian, Aojie, Zhang, Di, Xiong, Zhimin, Hu, Zhengmao, Xia, Kun, Shu, Chang
Publicado 2019

Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea

por Zheng, Yu, Peng, Yuming, Zhang, Shuju, Zhao, Hongmei, Chen, Weijian, Yang, Yongjia, Hu, Zhengmao, Yin, Qiang, Peng, Yu
Publicado 2022

Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice

por Xing, Xiaoliang, Zhang, Jing, Wu, Kunyang, Cao, Beibei, Li, Xianfeng, Jiang, Fang, Hu, Zhengmao, Xia, Kun, Li, Jia-Da
Publicado 2019

GLRA2 gene mutations cause high myopia in humans and mice

por Tian, Qi, Tong, Ping, Chen, Gong, Deng, Meichun, Cai, Tian'e, Tian, Runyi, Zhang, Zimin, Xia, Kun, Hu, Zhengmao
Publicado 2023

Investigation of Gene Regulatory Networks Associated with Autism Spectrum Disorder Based on MiRNA Expression in China

por Huang, Fengzhen, Long, Zhe, Chen, Zhao, Li, Jiada, Hu, Zhengmao, Qiu, Rong, Zhuang, Wei, Tang, Beisha, Xia, Kun, Jiang, Hong
Publicado 2015

Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports

por Xiong, Zhimin, Lu, Yanmei, Xue, Jinjie, Luo, Sanchuan, Xu, Xiaojuan, Zhang, Lusi, Peng, Hao, Li, Wei, Chen, Dengming, Hu, Zhengmao, Xia, Kun
Publicado 2013

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

por Zhu, Guanghui, Zheng, Yu, Liu, Yaoxi, Yan, An, Hu, Zhengmao, Yang, Yongjia, Xiang, Shiting, Li, Liping, Chen, Weijian, Peng, Yu, Zhong, Nanbert, Mei, Haibo
Publicado 2019

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease

por Liu, Deyuan, Hu, Zhengmao, Peng, Yu, Yu, Changhong, Liu, Yalan, Mo, Xiaoyun, Li, Xiaoping, Lu, Lina, Xu, Xiaojuan, Su, Wei, Pan, Qian, Xia, Kun
Publicado 2010

Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients★

por Li, Xiaobo, Zi, Xiaohong, Li, Lin, Zhan, Yajing, Huang, Shunxiang, Li, Jin, Li, Xuning, Li, Xigui, Hu, Zhengmao, Xia, Kun, Tang, Beisha, Zhang, Ruxu
Publicado 2012

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia

por Zhou, Zhifan, Hu, Zhengmao, Zhang, Lu, Hu, Zhaoting, Liu, Haihong, Liu, Zhening, Du, Juan, Zhao, Jingping, Zhou, Lin, Xia, Kun, Tang, Bengsha, Shen, Lu
Publicado 2016

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders

por Han, Lin, Chen, Meilin, Wang, Yazhe, Wu, Huidan, Quan, Yingting, Bai, Ting, Li, Kuokuo, Duan, Guiqin, Gao, Yan, Hu, Zhengmao, Xia, Kun, Guo, Hui
Publicado 2019

Insertion of a knockout-first cassette in Ampd1 gene leads to neonatal death by disruption of neighboring genes expression

por Pan, Yongcheng, Zhang, Lusi, Liu, Qiong, Li, Ying, Guo, Hui, Peng, Yu, Peng, Hexiang, Tang, Beisha, Hu, Zhengmao, Zhao, Jingping, Xia, Kun, Li, Jia-Da
Publicado 2016