Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Ruolan Guo"'
Autor:
Shen Yang, Shixuan Zhang, Wen Zhao, Libing Fu, Li Zhang, Chan Hon Chui, Ruolan Guo, Yan Su, Dayan Sun, Huanmin Wang
Publikováno v:
Genes and Diseases, Vol 11, Iss 6, Pp 101196- (2024)
Externí odkaz:
https://doaj.org/article/ac569636eb7144c686de031273a9655b
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
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
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
Autor:
Peiyi Yang, Na Xu, Yan Su, Chao Duan, Shengcai Wang, Libing Fu, Tong Yu, Ruolan Guo, Xiaoli Ma
Publikováno v:
Frontiers in Oncology, Vol 12 (2023)
BackgroundRhabdomyosarcoma (RMS) is the most common soft tissue tumor in children, and its most common pathological types include embryonal RMS and alveolar RMS. In contrast, spindle cell RMS (SRMS) is a rare type. Moreover, the tongue is a rare prim
Externí odkaz:
https://doaj.org/article/f0a3d85248f1438ba65ea678ef16d1d6
Autor:
Yuanying Chen, Boliang Fang, Xuyun Hu, Ruolan Guo, Jun Guo, Kenan Fang, Jingwen Ni, Wei Li, Suyun Qian, Chanjuan Hao
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Thiamine metabolism dysfunction syndrome 4 (THMD4, OMIM #613710) is an autosomal recessive inherited disease caused by the deficiency of SLC25A19 that encodes the mitochondrial thiamine pyrophosphate (TPP) transporter. This disord
Externí odkaz:
https://doaj.org/article/461027c381034d498687e1811b6ce7b3
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveTo analyze the genotypic characteristics of patients with neurofibromatosis type 1 (NF1) associated dystrophic scoliosis and to summarize the outcomes of the surgical treatment of these patients.MethodsExome sequencing (ES) combined with mul
Externí odkaz:
https://doaj.org/article/725adb375e674c3d8be606f022c0dc7b
Autor:
Wenyan Zhang, Ziming Yao, Ruolan Guo, Haichong Li, Shuang Zhao, Wei Li, Xuejun Zhang, Chanjuan Hao
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
BackgroundCongenital scoliosis (CS) is characterized by vertebral malformations. The precise etiology of CS is not fully defined. A compound inheritance of TBX6 was identified in 10% of patients with CS in Han Chinese and formed a distinguishable sub
Externí odkaz:
https://doaj.org/article/55440d0d65854891a12fe3593a961fe9