Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Kun‑Qi Yang"'
Publikováno v:
Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-16 (2022)
Abstract Apparent mineralocorticoid excess is an autosomal recessive form of monogenic disease characterized by juvenile resistant low-renin hypertension, marked hypokalemic alkalosis, low aldosterone levels, and high ratios of cortisol to cortisone
Externí odkaz:
https://doaj.org/article/7a1fa2d163984536b6dfab7bd4683c8c
Autor:
Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan
Publikováno v:
Kidney & Blood Pressure Research, Pp 1-1 (2023)
Introduction: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene. Approximately one-third of the reported pathogenic mutations in NF1 are splicing mutations, b
Externí odkaz:
https://doaj.org/article/400f8740c54d404493e6b3c71fe31273
Autor:
Xu Meng, Yan-Kun Yang, Yue-Hua Li, Peng Fan, Ying Zhang, Kun-Qi Yang, Hai-Ying Wu, Xiong-Jing Jiang, Jun Cai, Xian-Liang Zhou
Publikováno v:
Clinical and Experimental Hypertension, Vol 43, Iss 1, Pp 7-12 (2021)
Background: Rare cases of concurrent primary aldosteronism (PA) and renal artery stenosis (RAS) have been reported. Methods: In this retrospective case–control study, we selected a cohort of 10 PA with RAS patients and a control group of 20 PA with
Externí odkaz:
https://doaj.org/article/dbb1fddedd334860a5c519b3fd54cc8d
Autor:
Di Zhang, Yi Qu, Xue-Qi Dong, Yi-Ting Lu, Kun-Qi Yang, Xin-Chang Liu, Peng Fan, Yu-Xiao Hu, Chun-Xue Yang, Ling-Gen Gao, Ya-Xin Liu, Xian-Liang Zhou
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Externí odkaz:
https://doaj.org/article/ea37c960bdf945ca81cceb92933d60c3
Autor:
Di Zhang, Yi Qu, Xue-Qi Dong, Yi-Ting Lu, Kun-Qi Yang, Xin-Chang Liu, Peng Fan, Yu-Xiao Hu, Chun-Xue Yang, Ling-Gen Gao, Ya-Xin Liu, Xian-Liang Zhou
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveLiddle syndrome (LS) is a monogenic hypertension consistent with autosomal dominant inheritance, often with early onset high blood pressure in childhood or adolescence. This study aimed to identify the pathogenicity of a nonsense mutation in
Externí odkaz:
https://doaj.org/article/6a3dc85f7de845fbbd633bcff907473f
Autor:
Peng Fan, Di Zhang, Xiao-Cheng Pan, Kun-Qi Yang, Qiong-Yu Zhang, Yi-Ting Lu, Ying Zhang, Xue-Ying Liu, Wen-Jun Ma, Hui-Min Zhang, Lei Song, Jun Cai, Ya-Xin Liu, Xian-Liang Zhou
Publikováno v:
Kidney & Blood Pressure Research, Vol 45, Iss 4, Pp 603-611 (2020)
Introduction: Liddle syndrome (LS), an autosomal dominant and inherited monogenic hypertension syndrome caused by pathogenic mutations in the epithelial sodium channel (ENaC) genes SCNN1A, SCNN1B, and SCNN1G. Objective: This study was designed to ide
Externí odkaz:
https://doaj.org/article/0e556da0891e4e81a370c0494536af32
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:
Yi-Ting Lu, Peng Fan, Di Zhang, Ying Zhang, Xu Meng, Qiong-Yu Zhang, Lin Zhao, Kun-Qi Yang, Xian-Liang Zhou
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2021)
Hypertension is an important risk factor in many conditions and creates a heavy burden of disease and mortality globally. Polygenic hypertension is the most common form; however, it is increasingly recognized that monogenic hypertension is not rare,
Externí odkaz:
https://doaj.org/article/ed93f2392dde4816b43fff7548e4dc67
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