Zobrazeno 1 - 10 of 64 pro vyhledávání: '"Peng‐Chieh Chen"'
1
Akademický článek
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya diseaseResearch in context
Autor: Chia-Yi Li, Li-Wen Chen, Meng-Che Tsai, Yen-Yin Chou, Pei-Xuan Lin, Yu-Ming Chang, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Hui-An Chen, Ni-Chung Lee, Pen-Hua Su, Tzung-Chien Hsieh, Hannah Klinkhammer, Yi-Chieh Wang, Yi-Ting Huang, Peter M. Krawitz, Sheng-Hsiang Lin, Lynn L.H. Huang, Po-Min Chiang, Min-Hsiu Shih, Peng-Chieh Chen
Publikováno v: EBioMedicine, Vol 110, Iss , Pp 105476- (2024)
Summary: Background: Impaired mitochondrial protein import machinery leads to phenotypically heterogeneous diseases. Here, we report a recurrent homozygous missense variant in the gene that encodes the translocase of outer mitochondrial membrane 7 (T
Externí odkaz: https://doaj.org/article/de06c53f45b84498991ecfb435279b94
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2
Akademický článek
Syndromic ciliopathy: a taiwanese single-center study
Autor: Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai
Publikováno v: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)
Abstract Background Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pa
Externí odkaz: https://doaj.org/article/73060ee9b5c9490996048dfd21858c78
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3
Akademický článek
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients
Autor: Wei-Ting Tu, Ping-Chen Hou, Peng-Chieh Chen, Wan-Rung Chen, Hsin-Yu Huang, Jing-Yu Wang, Yi-Ting Huang, Yi-Huei Wu, Chun-Lin Su, Yen-An Tang, Hiroaki Iwata, Ken Natsuga, Sheau-Chiou Chao, H. Sunny Sun, Ming-Jer Tang, Julia Yu-Yun Lee, John A. McGrath, Chao-Kai Hsu
Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases characterized by skin fragility. Primary data on Taiwanese population remain scarce. Methods We gathered clinical information from EB patients at Nati
Externí odkaz: https://doaj.org/article/0cb4dd617c1d453a9b25ad879496557a
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4
Akademický článek
A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing
Autor: Cheng-Yu Liao, Hui-Wen Yu, Chao-Neng Cheng, Jiann-Shiuh Chen, Ching-Wei Lin, Peng-Chieh Chen, Chi-Chang Shieh
Publikováno v: Journal of Microbiology, Immunology and Infection, Vol 53, Iss 1, Pp 99-105 (2020)
Background: Patients with severe combined immunodeficiency (SCID), which is caused by genetic defects in immune-related genes involved in the development or activation of the adaptive immune system, often died in infancy due to severe infections befo
Externí odkaz: https://doaj.org/article/8afe9d7bc00a4c6aaaa090845ea80c1d
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5
Akademický článek
Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients
Autor: Meng-Che Tsai, Yun-Han Weng, Yu-Fang Lin, Yi-Chieh Wang, Hui-Wen Yu, Yen-Yin Chou, Peng-Chieh Chen
Publikováno v: Biomedicines, Vol 11, Iss 2, p 242 (2023)
Disorders/differences of sex development (DSDs) are a group of rare and phenotypically variable diseases. The underlying genetic causes of most cases of 46XY DSDs remains unknown. Despite the advent of genetic testing, current investigations of the c
Externí odkaz: https://doaj.org/article/d19b7b8f5fac458ebb4c91336f791b75
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6
Akademický článek
NOX2-Deficient Neutrophils Facilitate Joint Inflammation Through Higher Pro-Inflammatory and Weakened Immune Checkpoint Activities
Autor: Yi-Chu Liao, Szu-Yu Wu, Ya-Fang Huang, Pei-Chi Lo, Tzu-Yi Chan, Chih-An Chen, Chun-Hsin Wu, Che-Chia Hsu, Chia-Liang Yen, Peng-Chieh Chen, Chi-Chang Shieh
Publikováno v: Frontiers in Immunology, Vol 12 (2021)
Immune-mediated arthritis is an important chronic inflammatory disease of joints causing debilitating morbidity in affected patients. The mechanisms underlying immune-mediated arthritis have been intensively investigated, however the cellular and mol
Externí odkaz: https://doaj.org/article/eec2468f89ac411ebe6f35a6d350844b
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8
Akademický článek
New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies
Autor: Meng-Che Tsai, Yen-Yin Chou, Chia-Yi Li, Yi-Chieh Wang, Hui-Wen Yu, Chia-Hsiang Chen, Peng-Chieh Chen
Publikováno v: Frontiers in Genetics, Vol 12 (2021)
Collagenopathy is a rare genetic condition characterized by abnormality in either collagen structure or metabolism. Variations in its clinical presentations highlight diversity in the genetic causes and potential existence of concurrent mutations. Th
Externí odkaz: https://doaj.org/article/107b7db914d543d788c0134134bbb221
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10
Akademický článek
Probiotics-Containing Yogurt Ingestion and H. pylori Eradication Can Restore Fecal Faecalibacterium prausnitzii Dysbiosis in H. pylori-Infected Children
Autor: Yao-Jong Yang, Peng-Chieh Chen, Fu-Ping Lai, Pei-Jane Tsai, Bor-Shyang Sheu
Publikováno v: Biomedicines, Vol 8, Iss 6, p 146 (2020)
This study investigated the compositional differences in fecal microbiota between children with and without H. pylori infection and tested whether probiotics-containing yogurt and bacterial eradication improve H. pylori-related dysbiosis. Ten H. pylo
Externí odkaz: https://doaj.org/article/d262841d066b400cb4ab2ccde41a03c7
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