Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Hua-Ying Hu"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Objective Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is often associated with h
Externí odkaz:
https://doaj.org/article/af3f6736c0d341faa6f2d6eb9fafcf22
Autor:
Kai Yang, Jue Wu, Shang Li, Shan Wang, Jing Zhang, Yi-peng Wang, You-sheng Yan, Hua-ying Hu, Ming-fang Xiong, Chao-bo Bai, Yong-qing Sun, Wen-qi Chen, Yang Zeng, Jun-liang Yuan, Cheng-hong Yin
Publikováno v:
Cell Death Discovery, Vol 9, Iss 1, Pp 1-15 (2023)
Abstract Hippocampal neuronal damage may induce cognitive impairment. Neurotrophic tyrosine kinase receptor 1 (NTRK1) reportedly regulates neuronal damage, although the underlying mechanism remains unclear. The present study aimed to investigate the
Externí odkaz:
https://doaj.org/article/59839e9a0a1342d5a4955354421fbdd3
Autor:
Qing‐bing He, Cai‐hong Wu, Dong‐lan Sun, Jia‐yu Yuan, Hua‐ying Hu, Kai Yang, Wen‐qi Chen, You‐sheng Yan, Guang‐yue Yin, Jing Zhang, Ya‐zhou Li
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Background The MYH3‐associated myosinopathies comprise a spectrum of rare neuromuscular disorders mainly characterized by distal arthrogryposis with or without other features like pterygia and vertebrae fusion. CPSKF1B (contractures, ptery
Externí odkaz:
https://doaj.org/article/cd96c595951949e38729fc14258a8b2d
Autor:
Kai Yang, Yi-Cheng Xu, Hua-Ying Hu, Ya-Zhou Li, Qian Li, Ying-Yi Luan, Yan Liu, Yong-Qing Sun, Zhan-Ke Feng, You-Sheng Yan, Cheng-Hong Yin
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive sensory neuropathy, was caused mainly by biallelic mutations in the NTRK1 gene. The pathogenesis of CIPA still needs further elucidation.Methods: Here, we
Externí odkaz:
https://doaj.org/article/779403bfacf44645aa83d692ab1e6e19
Autor:
Shang Li, Hua‐ying Hu, Jun‐Jun Xu, Zhan‐ke Feng, Yong‐qing Sun, Xu Chen, Kai Yang, Ya‐zhou Li, Dong‐liang Zhang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the NTRK1 gene. Methods
Externí odkaz:
https://doaj.org/article/eb40b0c9466548898d9f64b02237c430
Autor:
Kai, Yang, Yan, Liu, Jue, Wu, Jing, Zhang, Hua-Ying, Hu, You-Sheng, Yan, Wen-Qi, Chen, Shu-Fa, Yang, Li-Juan, Sun, Yong-Qing, Sun, Qing-Qing, Wu, Cheng-Hong, Yin
Publikováno v:
Genes. 13(9)
Osteogenesis imperfecta (OI) is a rare mendelian skeletal dysplasia with autosomal dominant or recessive inheritance pattern, and almost the most common primary osteoporosis in prenatal settings. The diversity of clinical presentation and genetic eti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::834b867202c13f86fca12c63a23a21bd
https://pubmed.ncbi.nlm.nih.gov/36140746
https://pubmed.ncbi.nlm.nih.gov/36140746
Autor:
Jie Peng, Li-Ying Tang, Yi Shao, Shi-Nan Wu, Hua-Ying Hu, Zhe Cheng, Dong Xiao, Shang-Kun Ou, Hui Zhao
Importance: Aside from the clinical index, there is no established criterion for assessing the effectiveness of intense pulsed light (IPL) in treating meibomian gland disease.Objective：To determine if there is an association between changes in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f63cfb2ae88281b6ecad9191dc9f7fe
https://doi.org/10.21203/rs.3.rs-771995/v1
https://doi.org/10.21203/rs.3.rs-771995/v1
Autor:
Hua-Ying, Hu, Tian-Ying, Wei, Zhan-Ke, Feng, Song-Jun, Li, Rong, Zhao, Xiao-Ling, Yi, Ti-Ling, Hu, Huan, Zhao, Cun-Xi, Li, Zu-Guo, Liu
Publikováno v:
DNA and cell biology. 40(6)
Sperm motility is vital to human reproduction, and malformed sperm flagella can cause male infertility. Individuals with multiple morphological abnormalities of the flagella mostly have absent, short, coiled, bent, and/or irregular-caliber flagella.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b510d26e0ac0213c235f5da05e136211
https://pubmed.ncbi.nlm.nih.gov/33989052
https://pubmed.ncbi.nlm.nih.gov/33989052
Autor:
Kai, Yang, Hua-Ying, Hu, Jing, Zhang, You-Sheng, Yan, Wen-Qi, Chen, Yan, Liu, Yong-Qing, Sun, Qing, Guo, Cheng-Hong, Yin
Publikováno v:
Am J Transl Res
Charcot-Marie-Tooth (CMT) 2A disease, a genetic axonal nervous lesion, results from MFN2 pathogenic variation, and this gene plays a pivotal role in mitochondrial dynamics and calcium signaling. However, the underlying mechanism linking MFN2 defect t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2f453c9646f6d11c383c00a718c96f7e
https://pubmed.ncbi.nlm.nih.gov/34786076
https://pubmed.ncbi.nlm.nih.gov/34786076
Autor:
Hua-Ying Hu, Jing Zhang, Wei Qiu, Chao Liang, Cun-Xi Li, Tian-Ying Wei, Zhan-Ke Feng, Qing Guo, Kai Yang, Zu-Guo Liu
Publikováno v:
Journal of Cellular & Molecular Medicine; Jul2021, Vol. 25 Issue 13, p6318-6332, 15p