Zobrazeno 1 - 10
of 170
pro vyhledávání: '"Pei‐Lung Chen"'
Autor:
Sheng-Kai Lai, Allen Chilun Luo, I-Hsuan Chiu, Hui-Wen Chuang, Ting-Hsuan Chou, Tsung-Kai Hung, Jacob Shujui Hsu, Chien-Yu Chen, Wei-Shiung Yang, Ya-Chien Yang, Pei-Lung Chen
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 1562-1571 (2024)
Human leukocyte antigen (HLA) genes play pivotal roles in numerous immunological applications. Given the immense number of polymorphisms, achieving accurate high-throughput HLA typing remains challenging. This study aimed to harness the human pan-gen
Externí odkaz:
https://doaj.org/article/08955c6a50a74592a2f382097a0b670e
Autor:
Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen, Ta-Ching Chen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Biallelic pathogenic variants in USH2A lead to Usher syndrome or non-syndromic retinitis pigmentosa, and shown to have geographical and ethnical distribution in previous studies. This study provided a deeper understanding of the d
Externí odkaz:
https://doaj.org/article/4d415b75d393438580b51288c13305dc
Autor:
Wei-Chieh Wang, Chu-Hsuan Huang, Hsin-Hsiang Chung, Pei-Lung Chen, Fung-Rong Hu, Chang-Hao Yang, Chung-May Yang, Chao-Wen Lin, Cheng-Chih Hsu, Ta-Ching Chen
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-10 (2024)
Abstract The diagnosis of inherited retinal degeneration (IRD) is challenging owing to its phenotypic and genotypic complexity. Clinical information is important before a genetic diagnosis is made. Metabolomics studies the entire picture of bioproduc
Externí odkaz:
https://doaj.org/article/ba3bb0fc85744b40abc7daf0a7992a27
Publikováno v:
iScience, Vol 27, Iss 7, Pp 109815- (2024)
Summary: Metabolic syndrome (MetS) is a collection of cardiovascular risk factors; however, the high prevalence and heterogeneity impede effective clinical management. We conducted unsupervised clustering on individuals from UK Biobank to reveal endo
Externí odkaz:
https://doaj.org/article/00d50dbe827649a48f36ee0c74a63e74
Autor:
Hsu-Hua Tseng, Yen-Bo Lin, Kuan-Yu Lin, Chia-Hung Lin, Hung-Yuan Li, Chia-Hsuin Chang, Yi-Ching Tung, Pei-Lung Chen, Chih-Yuan Wang, Wei-Shiung Yang, Shyang-Rong Shih
Publikováno v:
European Thyroid Journal, Vol 12, Iss 6, Pp 1-10 (2023)
Purpose: Autoimmune polyendocrine syndrome (APS) is a rare immune-endocrinopathy characterized by the failure of at least two endocrine organs. Clinical characteristics have mainly been described in the Western population. This study comprehensively
Externí odkaz:
https://doaj.org/article/e014e9bdba1c40a19cb73f45da2b1552
Publikováno v:
Journal of the Formosan Medical Association, Vol 122, Iss 7, Pp 648-652 (2023)
Rotor syndrome is a rare, benign, inherited disorder that is commonly associated with mild hyperbilirubinemia. It is caused by bi-allelic pathological variants in both SLCO1B1 and SLCO1B3 genes, causing defective OATP1B1 and OATP1B3 in the sinusoidal
Externí odkaz:
https://doaj.org/article/04aa3c2c1eb343d1bf1d16d56a1eba78
Autor:
Cheng-Ting Lee, Wen-Hao Tsai, Chien-Ching Chang, Pei-Chun Chen, Cathy Shen-Jang Fann, Hsueh-Kai Chang, Shih-Yao Liu, Mu-Zon Wu, Pao-Chin Chiu, Wen-Ming Hsu, Wei-Shiung Yang, Ling-Ping Lai, Wen-Yu Tsai, Shi-Bing Yang, Pei-Lung Chen
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ObjectiveCongenital hyperinsulinism (CHI) is a group of clinically and genetically heterogeneous disorders characterized by dysregulated insulin secretion. The aim of the study was to elucidate genetic etiologies of Taiwanese children with the most s
Externí odkaz:
https://doaj.org/article/1245d9fc0f6545668f7be7e04ecc5a60
Autor:
Cheng-Yu Tsai, Ying-Chang Lu, Yen-Hui Chan, Navaneethan Radhakrishnan, Yuan-Yu Chang, Shu-Wha Lin, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Lee-Wei Yang, Chen-Chi Wu
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 5698-5711 (2023)
Variants in the gap junction beta-2 (GJB2) gene are the most common cause of hereditary hearing impairment. However, how GJB2 variants lead to local physicochemical and structural changes in the hexameric ion channels of connexin 26 (Cx26), resulting
Externí odkaz:
https://doaj.org/article/4cc6f64e81f44b9c8a1e0e677fb5c287
Autor:
Che‐Ming Chiang, Yung‐Ming Jeng, Ming‐Chih Ho, Ming‐Wei Lai, Huei‐Ying Li, Pei‐Lung Chen, Ni‐Chung Lee, Jia‐Feng Wu, Yu‐Chun Chiu, Bang‐Yu Liou, Yen‐Hsuan Ni, Hong‐Yuan Hsu, Mei‐Hwei Chang, Huey‐Ling Chen
Publikováno v:
JGH Open, Vol 6, Iss 12, Pp 839-845 (2022)
Abstract Background and Aim Alagille syndrome (ALGS) is a multisystem disorder with variable clinical courses. This study investigated the clinical and genetic features of ALGS patients with different outcomes and analyzed the liver pathology at live
Externí odkaz:
https://doaj.org/article/c4fe4b8c39664be18f32bf07e6276ac7
Autor:
Chia-Jung Lee, Ting-Huei Chen, Aylwin Ming Wee Lim, Chien-Ching Chang, Jia-Jyun Sie, Pei-Lung Chen, Su-Wei Chang, Shang-Jung Wu, Chia-Lin Hsu, Ai-Ru Hsieh, Wei-Shiung Yang, Cathy S. J. Fann
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-9 (2022)
A phenome-wide association study and polygenic risk score analysis identifies several loci linked to metabolic disease and type 2 diabetes in the Taiwanese population.
Externí odkaz:
https://doaj.org/article/7a0fb0c879f44806bc21cfd22dfb3009