Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Xiaoping, Lan"'
Autor:
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Simei Wang, Man Xiao, Yongchen Yang, Hong Zhang, Shengnan Wu
Publikováno v:
Heliyon, Vol 10, Iss 4, Pp e26743- (2024)
Vissers-Bodmer Syndrome, an autosomal dominant disease, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia and autistic features with a highly variable phenotype. It is caused by variants
Externí odkaz:
https://doaj.org/article/4f9b7bec3246402fa31bcd953e0ae070
Autor:
Xiaoang Sun, Xiaona Luo, Longlong Lin, Simei Wang, Chunmei Wang, Fang Yuan, Xiaoping Lan, Jingbin Yan, Yucai Chen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background Lysine acetyltransferase 6B (KAT6B) encodes a highly conserved histone acetyltransferase that regulates the expression of multiple genes and is essential for human growth and development. Methods We identified a novel frameshift v
Externí odkaz:
https://doaj.org/article/248af0dbeef44c17913336d1b8e29dca
Autor:
Ruo Wu, Bing Bai, Feng Li, Raoxian Bai, Yan Zhuo, Zhengna Zhu, Rongfang Jia, Shangang Li, Yongchang Chen, Xiaoping Lan
Publikováno v:
Frontiers in Veterinary Science, Vol 10 (2023)
IntroductionPolycystic kidney disease (PKD) is a common autosomal dominant or recessive genetic disease, often accompanied by polycystic liver disease (PLD). Many cases of PKD in animals have been reported. However, little is known about the genes th
Externí odkaz:
https://doaj.org/article/4fb52562663745f4b3aa19ded96e5ebb
Autor:
Meiyan Liu, Xiaoang Sun, Longlong Lin, Xiaona Luo, Simei Wang, Chunmei Wang, Yuanfeng Zhang, Quanmei Xu, Wuhen Xu, Shengnan Wu, Xiaoping Lan, Yucai Chen
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundProline-rich transmembrane protein 2 (PRRT2) plays an important role in the central nervous system and mutations in the gene are implicated in a variety of neurological disorders. This study aimed to summarize the clinical characteristics a
Externí odkaz:
https://doaj.org/article/670301d0ffc2493382032d19678ff992
Autor:
Kunfang Yang, Longlong Lin, Fang Yuan, Xiaoguang Li, Zhiping Liu, Xiaoping Lan, Yilin Wang, Yun Ren, Jiaoyan Li, Yucai Chen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract Background The calcium/calmodulin‐dependent serine protein kinase gene (CASK) is an essential gene in mammals, critical for neurodevelopment. The purpose of this study is to expand the understanding of the diagnosis of CASK‐linked disord
Externí odkaz:
https://doaj.org/article/c7c8fa2a30fd4178bdd9f26872ba5c94
Autor:
Xiaozhen Song, Wuhen Xu, Man Xiao, Yanfen Lu, Xiaoping Lan, Xiaojun Tang, Nanjie Xu, Guangjun Yu, Hong Zhang, Shengnan Wu
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Pathogenic variants in the nuclear receptor superfamily 4 group A member 2 (NR4A2) cause an autosomal dominant neurodevelopmental disorder with or without seizures. Here, we described two patients presenting with developmental delay, language impairm
Externí odkaz:
https://doaj.org/article/d9d9390cd6fc43408c06053512490f4d
Autor:
Xiaona Luo, Xiaoang Sun, Yilin Wang, Longlong Lin, Fang Yuan, Simei Wang, Wenjing Zhang, Xiaobing Ji, Meiyan Liu, Shengnan Wu, Xiaoping Lan, Jie Zhang, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Background: The chromodomain helicase DNA-binding protein 2 (CHD2) gene, is an ATPase and part of the CHD family of chromatin remodelers. Mutations in the CHD2 gene are inherited in an autosomal-dominant manner and can lead to intellectual disability
Externí odkaz:
https://doaj.org/article/97f6639bab4744f8bed5ed741c3ba30f
Autor:
Xiaona Luo, Chunmei Wang, Longlong Lin, Fang Yuan, Simei Wang, Yilin Wang, Anqi Wang, Chao Wang, Shengnan Wu, Xiaoping Lan, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Jiaming Xi, Jie Zhang, Xiaomin Sun, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
The gene encoding collagen like tail subunit of asymmetric acetylcholinesterase (COLQ) is responsible for the transcription of three strands of collagen of acetylcholinesterase, which is attached to the endplate of neuromuscular junctions. Mutations
Externí odkaz:
https://doaj.org/article/6939934fb6e9403f8f54ed0089c01920
Autor:
Xiaozhen Song, Jincai Feng, Xiaoping Lan, Xiaojun Tang, Wuhen Xu, Jun Shen, Guangjun Yu, Jia Jia, Hong Zhang, Qing Lu, Shengnan Wu
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102377- (2021)
Mutations in TRAF7 cause developmental delay and cardiac, facial, digital anomalies. c.1964G > A variant was most recurrent, suggesting its essentiality of pathogenicity. Further studies to determine the underlying mechanism of c.1964G > A variant ar
Externí odkaz:
https://doaj.org/article/2b015f4715a9487cbc3a51cf3aa447ea
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, park
Externí odkaz:
https://doaj.org/article/99ff39782a7c4bb98b6444b17e4e0fb3