Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Chanjuan, Hao"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
Abstract Background Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018. This syndrome starts with pre- and postnatal developmental delay, and gradual
Externí odkaz:
https://doaj.org/article/6a611684251c4737b3fffd6717bf7b16
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
Abstract Background Aminoacyl-tRNA synthetases (ARSs) are indispensable enzymes for protein biosynthesis in cells. The phenylalanyl-tRNA synthetase (FARS1) located in cytoplasm which consists of two FARS alpha subunits (FARSA) and two FARS beta subun
Externí odkaz:
https://doaj.org/article/cd91398dcbc240529fbe0915b659e351
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Intellectual disability (ID) is a con neurodevelopmental disorder in children. The genetic etiology of ID is complex, but more subtypes are defined due to the broad application of next‐generation sequencing. Methods Whole‐exom
Externí odkaz:
https://doaj.org/article/b035e5e451af40539c2b4207e3ade1bb
Autor:
Jun Guo, Kun He, Chanjuan Hao, Qiqing Sun, Yaodong Zhang, Ruili Zheng, Yuanying Chen, Zhenhua Xie, Fangjie Wang
Publikováno v:
BMJ Paediatrics Open, Vol 8, Iss 1 (2024)
Objectives This study aimed to describe the genetic and clinical characteristics of paediatric cardiomyopathy in a cohort of Chinese patients.Methods We retrospectively reviewed the clinical history and mutation spectrum of 75 unrelated Chinese paedi
Externí odkaz:
https://doaj.org/article/88cc4335f4d64717b7b20d8e187e193f
Autor:
Wei Li, Qi Guo, Peng Zhang, Yue Zhang, Kun Xia, Lu Xia, Xin Ni, Ruolan Guo, Wenjian Xu, Chunlin Zhao, Ting Bai, Chanjuan Hao
Publikováno v:
BMJ Paediatrics Open, Vol 7, Iss 1 (2023)
Background Autism spectrum disorder (ASD) is a diverse neurodevelopmental disease primarily distinguished by limited and stereotyped activities as well as impaired social interaction. Due to the high heritability of ASD, research on the disorder has
Externí odkaz:
https://doaj.org/article/8c6fa53803c94a51ba9ae60dc69ad4ff
Autor:
Wei Li, Peng Zhang, Yue Zhang, Xin Ni, Ruolan Guo, Wenjian Xu, Chanjuan Hao, Xuanshi Liu, Fei Leng
Publikováno v:
BMJ Paediatrics Open, Vol 7, Iss 1 (2023)
Background Neurodevelopmental disorders (NDDs) are associated with altered development of the brain especially in childhood. Copy number variants (CNVs) play a crucial role in the genetic aetiology of NDDs by disturbing gene expression directly at li
Externí odkaz:
https://doaj.org/article/bead04e800054b288ead4f6026c19a41
Publikováno v:
Heliyon, Vol 9, Iss 10, Pp e20857- (2023)
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by appearance of premature aging, including the skin, bones, heart, and blood vessels caused by LMNA mutation. In this study, the patient presented with congenital
Externí odkaz:
https://doaj.org/article/82655a2649b74a139cbb86ef0de3e4cb
Autor:
Qiaochu Wang, Zengge Wang, Yizhen Wang, Zhan Qi, Dayong Bai, Chentong Wang, Yuanying Chen, Wenjian Xu, Xili Zhu, Jaepyo Jeon, Jian Xiong, Chanjuan Hao, Michael Xi Zhu, Aihua Wei, Wei Li
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
TPC2 is an important organellar Na+/Ca2+ release channel which regulates function of lysosomes and lysosome-related organelles. Here, Wang et al. demonstrate that a gain-of-function mutation (R210C) in TPC2 leads to hypopigmentaion, enlarged endolyso
Externí odkaz:
https://doaj.org/article/d3cc3c6fd0c041d1a415597d3cfe7284
Autor:
Yue Zhang, Ying Li, Ruolan Guo, Wenjian Xu, Xuanshi Liu, Chunlin Zhao, Qi Guo, Wenshan Xu, Xin Ni, Chanjuan Hao, Yonghua Cui, Wei Li
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Purpose: To establish an effective genomic diagnosis pipeline for children with autism spectrum disorder (ASD) for its genetic etiology and intervention.Methods: A cohort of 354 autism spectrum disorder patients were obtained from Beijing Children’
Externí odkaz:
https://doaj.org/article/679def0bcb9347bf9fd70dab2030cbce
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome caused by germline TP53 gene mutations. It is characterized by high risk of early-onset cancer, and has been confirmed as associated with multi
Externí odkaz:
https://doaj.org/article/b80cc45717234848aad5f8c60a562441