Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Kaixian Du"'
Autor:
Shichao Zhao, Ruofei Lian, Liang Jin, Mengchun Li, Tianming Jia, Falin Xu, Kaixian Du, Lijun Wang, Qiliang Guo, Yan Dong
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 250-257 (2024)
Abstract Objective Defects in RARS2 cause cerebellopontine hypoplasia type 6 (pontocerebellar hypoplasia type 6, PCH6, OMIM: #611523), a rare autosomal recessive inherited mitochondrial disease. Here, we report two male patients and their respective
Externí odkaz:
https://doaj.org/article/61ee1543a6f34d31932e8273424465a6
Autor:
Yan Dong, Liang Jin, Mengchun Li, Ruofei Lian, Gongao Wu, Ruijuan Xu, Xiaoli Zhang, Kaixian Du, Tianming Jia, Haiyan Wang, Shichao Zhao
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
ObjectiveThis study aims to describe the characteristics of the brain network attributes in children diagnosed with Infantile Epileptic Spasms Syndrome (IESS) and to determine the influence exerted by adrenocorticotrophic hormone (ACTH) or methylpred
Externí odkaz:
https://doaj.org/article/8827a646004c4c6b9921ef00340e2a42
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Externí odkaz:
https://doaj.org/article/46894f524766409682a061629ef54598
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Objective:The study aimed to identify the signatures of brain networks using electroencephalogram (EEG) in patients with infantile spasms (IS).MethodsScalp EEGs of subjects with IS were prospectively collected in the first year of life (n = 8; age ra
Externí odkaz:
https://doaj.org/article/a1efaccf7e9e45808abaa54c86ae4fbf
Autor:
Yan, Dong, Xiaoyi, Shi, Kaixian, Du, Yali, Shi, Jun, Wang, Tianming, Jia, Ke, Zhang, Ruijuan, Xu, Lijun, Wang
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(4)
To analyze the clinical characteristics and genetic basis of two children patients with CHARGE syndrome.The clinical features of the two patients were analyzed, and potential variants were detected by Trio whole exome sequencing (trio-WES) of the pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0ca901b3cef5dbafd401ddd764b7510e
https://pubmed.ncbi.nlm.nih.gov/35446972
https://pubmed.ncbi.nlm.nih.gov/35446972
Autor:
Ling Liu, Jing Wang, Haiyu Li, Yan Dong, Ying Li, Lei Xia, Bo Yang, Handuo Wang, Yiran Xu, Guomei Cheng, Kaixian Du, Xiaoli Zhang, Changlian Zhu, Shihong Cui, Chenchen Ren
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 531
Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease caused by variations of the ASNS gene. It manifests as microcephaly, severe developmental delay, and spastic quadriplegia. 71% of ASNSD patients died during early infancy. We a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c55686b9cf61dfcf18d87cc4fbc9732
https://pubmed.ncbi.nlm.nih.gov/35469797
https://pubmed.ncbi.nlm.nih.gov/35469797
Publikováno v:
Experimental and Therapeutic Medicine. 22
Mental retardation-40 (MRD40) is a rare autosomal dominant neurodevelopmental disorder with a poor prognosis that is caused by a heterozygous mutation in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). It was previously considered a non-s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc17a7cb21db3d6839706877f6066724
https://doi.org/10.3892/etm.2021.10339
https://doi.org/10.3892/etm.2021.10339
Autor:
Yan, Dong, Xiaoyi, Shi, Kaixian, Du, Ruijuan, Xu, Tianming, Jia, Jun, Wang, Lijun, Wang, Rui, Han
Publikováno v:
Experimental and Therapeutic Medicine
Mental retardation-40 (MRD40) is a rare autosomal dominant neurodevelopmental disorder with a poor prognosis that is caused by a heterozygous mutation in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). It was previously considered a non-s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d7065605bf2a6714ecffabb283e0c32e
https://pubmed.ncbi.nlm.nih.gov/34257719
https://pubmed.ncbi.nlm.nih.gov/34257719
Publikováno v:
American journal of physiology. Cell physiology. 316(5)
Accumulating evidence has highlighted the potential of microRNAs (miRs) as biomarkers in various human diseases. However, the roles of miRs in bacterial meningitis (BM), a severe infectious condition, still remain unclear. Thus, the present study aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fc451662f57d99635ed4d9594f347ee
https://pubmed.ncbi.nlm.nih.gov/30726113
https://pubmed.ncbi.nlm.nih.gov/30726113
Publikováno v:
Neuroreport. 30(3)
Gap junction (GJ) is concerned with cell growth, differentiation, immune response, as well as many physiological and pathological processes. Cx43, as an important GJ protein, is associated with a variety of diseases. This study investigated the effec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec17dc55ba59ed1e68f0d9e415401437
https://pubmed.ncbi.nlm.nih.gov/30703072
https://pubmed.ncbi.nlm.nih.gov/30703072