Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Jiehui Ma"'
Publikováno v:
Heliyon, Vol 10, Iss 14, Pp e32945- (2024)
Adprhl2 (OMIM: 610624) mutation associated stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS, OMIM: 618170) is a sporadic neurodegenerative disease with poor prognosis. ADPRHL2 encodes ADP-ribosylhydrolase 3
Externí odkaz:
https://doaj.org/article/e111da005b754c09b771fdec88b644cd
Publikováno v:
Epilepsy & Behavior Reports, Vol 26, Iss , Pp 100671- (2024)
KCNH5 gene encodes for the voltage-gated potassium channel protein Kv10.2. Here, we investigated the clinical features of developmental and epileptic encephalopathy (DEE) in five Chinese pediatric patients with a missense mutation (p.R327H) in KCNH5
Externí odkaz:
https://doaj.org/article/0efffa7295814544b9835a9f33662a7c
Publikováno v:
Global Medical Genetics, Vol 10, Iss 03, Pp 263-270 (2023)
Background Mutations in the mitochondrial transfer RNA (mt-tRNA) gene are a hotspot for mitochondrial DNA (mtDNA) mutations and are most common in mitochondrial diseases.
Externí odkaz:
https://doaj.org/article/2ea2c500dc0e488c97f913c0a3162905
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Developmental and epileptic encephalopathies (DEEs) have high genetic heterogeneity, and DEE due to the potassium voltage-gated channel subfamily C member 2 (KCNC2) variant remains poorly understood, given the scarcity of related case studies. We rep
Externí odkaz:
https://doaj.org/article/a921e281e82d49039f8fd81d01a84e1a
Publikováno v:
Frontiers in Genetics, Vol 12 (2022)
Background: Gene variants of ADP-ribosylserine hydrosylase, also known as ADP-ribosylhydrolase-like 2 (ADPRS or ADPRLH2; OMIM: 610624), can cause stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS, OMIM: 6181
Externí odkaz:
https://doaj.org/article/f986f152383f493f848358deb4218fbb
Autor:
Ying Yang, Xueyang Niu, Miaomiao Cheng, Qi Zeng, Jie Deng, Xiaojuan Tian, Yi Wang, Jing Yu, Wenli Shi, Wenjuan Wu, Jiehui Ma, Yufen Li, Xiaoling Yang, Xiaoli Zhang, Tianming Jia, Zhixian Yang, Jianxiang Liao, Yan Sun, Hong Zheng, Suzhen Sun, Dan Sun, Yuwu Jiang, Yuehua Zhang
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
ObjectiveThis study aimed to obtain a comprehensive understanding of the genetic and phenotypic aspects of GABRG2-related epilepsy and its prognosis and to explore the potential prospects for personalized medicine.MethodsThrough a multicenter collabo
Externí odkaz:
https://doaj.org/article/a079fd2ba9bc4e238dee2d8fdcc04ef9
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme involved in the second step of mitochondrial fatty acid β-oxidation. Mitochondrial diseases resulting from ECHS1 mutations are often charact
Externí odkaz:
https://doaj.org/article/890d66fe43e3409aab4c600137d1f336
Publikováno v:
Stem Cell Research, Vol 57, Iss , Pp 102589- (2021)
Brown-Vialetto-Van Laere syndrome-2 is a rare neurological disorder characterized by sensory neuronopathy and pontobulbar palsy, caused by variations in SLC52A2 and SLC52A3 genes, encoding the riboflavin transporters. By reprogramming with SOX2, KLF4
Externí odkaz:
https://doaj.org/article/2e627ff2788545d9b1b98e4316382106
Autor:
Dan Sun, Yan Liu, Wei Cai, Jiehui Ma, Kun Ni, Ming Chen, Cheng Wang, Yongchu Liu, Yuanyuan Zhu, Zhisheng Liu, Feng Zhu
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Epileptic encephalopathies (EEs) are a pediatric entity with highly phenotypic and genetic heterogeneity. Both single nucleotide variants (SNVs)/Indels and copy number variations (CNVs) could be the causes. Whole exome sequencing (WES) is
Externí odkaz:
https://doaj.org/article/6501756d666d46429872f01aab4f464d
Autor:
Dan Sun, Feng Zhu, Cheng Wang, Jing Wu, Jie Liu, Xue Chen, Zhisheng Liu, Zubo Wu, Xiaoxia Lu, Jiehui Ma, Hua Peng, Han Xiao
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: The outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is ongoing globally. Limited data are available for children with SARS-CoV-2 infection.Methods: A retrospective case study was conducted in one designated hospit
Externí odkaz:
https://doaj.org/article/1d7affa27a694bc98fff5cce920cb725