scholarly journals Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy

2017 ◽  
Vol 58 (5) ◽  
pp. 2623 ◽  
Author(s):  
Feng-Qin Rao ◽  
Xue-Bi Cai ◽  
Fei-Fei Cheng ◽  
Wan Cheng ◽  
Xiao-Long Fang ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Familial Exudative Vitreoretinopathy

scholarly journals Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Li-Yun Jia ◽  
Kai Ma
Keyword(s):  
Disease Gene ◽  
Direct Sequencing ◽  
Venous Blood ◽  
Gene Mutations ◽  
Chinese Patients ◽  
Control Group ◽  
Coding Region ◽  
Exon 2 ◽  
Norrie Disease ◽  
Familial Exudative Vitreoretinopathy

Abstract Purpose This study aims to analyze the Norrie disease gene (NDP) variants in patients with familial exudative vitreoretinopathy (FEVR) and their clinical features. Methods Thirty-three Chinese patients (22 familial and 11 simplex) who were diagnosed as FEVR underwent detailed ocular examinations in Beijing Tongren Hospital. Peripheral venous blood was drawn from the patients and their family members for the extraction of genomic DNA. All exons of NDP gene were analyzed by direct sequencing of PCR-amplified DNA fragments. Results Four novel mutations in NDP gene were identified in four X-linked FEVR families: a C → T transversion, c. 625C → T, in exon 3, resulting in a serine-to-proline change in codon 73 (S73P); a C → G transition, c. 751C → G, in exon 3, resulting in an arginine-to-glycine change in codon 115 (R115G); a T → C transversion of nucleotide 331 at 5’UTR in exon 2 (c.331 T → C); and a C → T transversion of the nucleotide 5 in intron 1 (IVS1 + 5C → T). The mutations were not present in the control group (n = 100). Conclusions Our results extend the spectrum of NDP gene mutations. The mutations in the non-coding region of NDP may play a crucial role in the pathogenesis of FEVR.

scholarly journals Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy

2017 ◽  
Vol 58 (13) ◽  
pp. 5949 ◽  
Author(s):  
Miao Tang ◽  
Limei Sun ◽  
Andina Hu ◽  
Miner Yuan ◽  
Yu Yang ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Chinese Patients ◽  
Familial Exudative Vitreoretinopathy

Acoustic Changes in Chinese Patients With Cancer-Related Unilateral Vocal Fold Paralysis After Medialization Thyroplasty

2008 ◽  
Vol 35 (Spring) ◽  
pp. 17-24 ◽  
Author(s):  
Manwa L. Ng ◽  
Ripley K. Wong ◽  
William I. Wei ◽  
Y. H. Wong ◽  
Paul K. Y. Lam
Keyword(s):  
Vocal Fold ◽  
Vocal Fold Paralysis ◽  
Chinese Patients ◽  
Unilateral Vocal Fold Paralysis ◽  
Patients With Cancer ◽  
Medialization Thyroplasty

Contrasting Internalized Stigma and Experiences With Stigma Among Chinese Patients

2010 ◽  
Author(s):  
Daisy R. Singla ◽  
Grace H. Yeh ◽  
Qi Zhao ◽  
Lawrence H. Yang
Keyword(s):  
Chinese Patients ◽  
Internalized Stigma

THE GENOTYPE AND PHENOTYPE STUDIES OF 40 CHINESE PATIENTS WITH X-ALD

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
X Bao ◽  
L Ping ◽  
A Wang ◽  
H Pan ◽  
Y Wu ◽  
...  
Keyword(s):  
Chinese Patients

Mutation update and short-term outcome after treatment with active vitamin D3in Chinese patients with pseudo-vitamin D-deficiency rickets

2016 ◽  
Author(s):  
Yue Chi ◽  
Jing Sun ◽  
Li Pang ◽  
Ruizhi Jiajue ◽  
Yan Jiang ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Chinese Patients ◽  
Active Vitamin ◽  
Short Term ◽  
Term Outcome ◽  
Short Term Outcome ◽  
Deficiency Rickets

MiRNA-binding site polymorphisms of MODY genes associated with lipid profiles in Chinese patients with gestational diabetes mellitus

2016 ◽  
Author(s):  
Xiaojing Wang ◽  
Wei Li ◽  
Jinsong Gao ◽  
Liangkun Ma ◽  
Ping Fan ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Binding Site ◽  
Lipid Profiles ◽  
Chinese Patients ◽  
Mirna Binding Site

Clinical Comparison of Behcet's Disease Between Japanese and Chinese Patients.

1997 ◽  
Vol 59 (5) ◽  
pp. 745-748
Author(s):  
Li-man WANG ◽  
Satoru MINESHITA ◽  
Jian-zhong WANG ◽  
Su-xian DING ◽  
Wei-yun LI ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Chinese Patients ◽  
Behcet's Disease ◽  
Clinical Comparison
Sign in / Sign up

Export Citation Format

Share Document