Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Chao-Xia Lu"'
Autor:
Peng Fan, Chao-Xia Lu, Kun-Qi Yang, Pei-Pei Lu, Su-Fang Hao, Fang Luo, Hui-Min Zhang, Lei Song, Hai-Ying Wu, Jun Cai, Xue Zhang, Xian-Liang Zhou
Publikováno v:
Kidney & Blood Pressure Research, Pp 1-8 (2019)
Background/Aims: Liddle syndrome (LS) is a rare autosomal dominant disease caused by mutations in genes coding for epithelial sodium channel (ENaC) subunits. The aim of this study was to identify the mutation responsible for the LS in an extended Chi
Externí odkaz:
https://doaj.org/article/76c3065fa82648d1a26ab815fa41721d
Autor:
Peng Fan, Chao-Xia Lu, Xue-Qi Dong, Di Zhu, Kun-Qi Yang, Ke-Qiang Liu, Di Zhang, Ying Zhang, Xu Meng, Hui-Qiong Tan, Li-Tian Yu, Ke-Fei Dou, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou, Yi Cui
Publikováno v:
Chinese Medical Journal, Vol 132, Iss 2, Pp 127-134 (2019)
Abstract. Background:. Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) mutations. Desminopathy involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and arrhythmia. Co
Externí odkaz:
https://doaj.org/article/1121ea0dd3244974a76f3527420a0a27
Autor:
Peng Fan, Chao-Xia Lu, Di Zhang, Kun-Qi Yang, Pei-Pei Lu, Ying Zhang, Xu Meng, Su-Fang Hao, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Lei Song, Jun Cai, Xue Zhang, Xian-Liang Zhou
Publikováno v:
Endocrine Connections, Vol 7, Iss 12, Pp 1528-1534 (2018)
Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and hypokalemia. Clinically, misdiagnosis or missing diagnosis is common, since clinical phenotypes of LS are variable and nonspecifi
Externí odkaz:
https://doaj.org/article/1aa4abceb471495ea0b43de5779a39b1
Autor:
Kun-Qi Yang, Chao-Xia Lu, Peng Fan, Ying Zhang, Xu Meng, Xue-Qi Dong, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Hai-Ying Wu, Jun Cai, Xue Zhang, Xian-Liang Zhou
Publikováno v:
Clinical and Experimental Hypertension, Vol 40, Iss 2, Pp 107-111 (2018)
Background: Liddle syndrome is an autosomal dominant form of monogenic hypertension. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, resulting in misdiagnosis and severe complications at early age. Objectives: To
Externí odkaz:
https://doaj.org/article/a49a7634d4e04f76935da997a4d1b042
Autor:
Kun-Qi Yang, Chao-Xia Lu, Ying Zhang, Yan-Kun Yang, Jia-Cheng Li, Tian Lan, Xu Meng, Peng Fan, Tao Tian, Lin-Ping Wang, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Abstract PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR
Externí odkaz:
https://doaj.org/article/5acc6955e994498e811bcbc02fa0346f
Autor:
Xiaoguang Li, Fang Liu, Bo Cui, Rong Rong Wang, Liying Cui, Qing Liu, Xia Nan Guo, Mingsheng Liu, Chao Xia Lu, Xue Zhang
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 87(11)
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterised by motor neuron degeneration in the primary motor cortex, brainstem and spinal cord. In two studies, >20 genes were associated with ALS and a number of patients carrie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ba035e8688a1f69ea979cfc0a7dbe89
https://pubmed.ncbi.nlm.nih.gov/27313233
https://pubmed.ncbi.nlm.nih.gov/27313233
Autor:
Mingsheng Liu, Bin Peng, Qing Liu, Rong Rong Wang, Xue Zhang, Fang Liu, Bo Cui, Xiaoguang Li, Shi Shu, Chao Xia Lu, Xia Nan Guo, Liying Cui
Publikováno v:
Neurology. 87(17)
Objective: To identify the disease-causing gene of a family with upper limb predominant, slowly progressive amyotrophic lateral sclerosis (ALS), which was diagnosed as flail arm syndrome (FAS). Methods: After causation of 24 known ALS genes was exclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6dc4ccf144570c0c20f10ae559d6dae
https://pubmed.ncbi.nlm.nih.gov/27694260
https://pubmed.ncbi.nlm.nih.gov/27694260
Autor:
Xue Zhang, Mingsheng Liu, Bo Cui, Rong Rong Wang, Xiaoguang Li, Fang Liu, Chao Xia Lu, Liying Cui, Xia Nan Guo, Qing Liu
Publikováno v:
Neurobiology of Aging. 47:219.e1-219.e5
Abnormal expansion of a hexanucleotide GGGGCC repeat in the C9orf72 gene is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in Caucasians. However, the underlying pathologic mechanisms remain controversial, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c87619ce49d3935ce845f70c15ed9018
https://doi.org/10.1016/j.neurobiolaging.2016.07.027
https://doi.org/10.1016/j.neurobiolaging.2016.07.027
Autor:
Chao-xia, Lu, Xia, Gao, Jin-wei, Wang, Mei, Zhang, Hong-wen, Zhu, Jing, Sun, Ji-fang, Xiao, Wei, Yang, Xiu-li, Zhao, Zhan, Qi, Xue, Zhang
Publikováno v:
Zhonghua yi xue za zhi. 91(42)
To identify the pathogenic mutations of phenylalanine hydroxylase gene (PAH) in patients with phenylketonuria (PKU) from Hebei Province.Genomic DNA was extracted from 55 unrelated PKU patients from September 2007 to July 2009. All PAH exons and exon-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9b4b93675af5d3d44a46b6acec242258
https://pubmed.ncbi.nlm.nih.gov/22333022
https://pubmed.ncbi.nlm.nih.gov/22333022
Autor:
Chao-xia, Lu, Na, Zhu, Qian, Zhang, Hong, Huang, Bing-shen, Ke, Huai-shui, Hou, Bai-jun, Shen
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(1)
To investigate the molecular basis for a novel human leukocyte antigen (HLA) allele B*5827.DNA from the proband was analyzed by polymerase chain reaction-sequence specific oligonucleotide (PCR-SSO) typing. The amplified product was sequenced bidirect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b139dcbd7988eb5fcf1c2cd464fa837b
https://pubmed.ncbi.nlm.nih.gov/21287518
https://pubmed.ncbi.nlm.nih.gov/21287518