Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Xiufang, Zhi"'
Autor:
Xinjie Zhang, Xiaowei Xu, Jianbo Shu, Xiufang Zhi, Hong Wang, Yan Dong, Wenchao Sheng, Dong Li, Yingtao Meng, Chunquan Cai
Publikováno v:
Heliyon, Vol 10, Iss 5, Pp e26912- (2024)
Objectives: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid in blood plasma and urine. Isolated methylmalonic acidemia is one of the most common types of MMA and is caused
Externí odkaz:
https://doaj.org/article/f74b1d1e15de4b80bd5e65b288cd6097
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Variants in the DEPDC5 have been proved to be main cause of not only various dominant familial focal epilepsies, but also sporadic focal epilepsies. In the present study, a novel variant in DEPDC5 was detected in the patient with
Externí odkaz:
https://doaj.org/article/e6660956ec24496f986017119887fa9e
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-10 (2022)
Abstract Background Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growt
Externí odkaz:
https://doaj.org/article/582c87ac75ef4689bff89c9495a41282
Autor:
Yan Liu, Liang Dong, Xiufang Zhi, Yang Liu, Linsheng Zhao, Xiaowei Xu, Lu Wang, Jie Zheng, Linjie Pu, Chunyu Gu, Jianbo Shu, Chunquan Cai
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Background To screen the single nucleotide polymorphisms (SNPs) in the coding regions of VANGL and FZD family members related to the plane cell polarity (PCP) signaling pathway in neural tube defects (NTDs) patients, so as to provide theoret
Externí odkaz:
https://doaj.org/article/43fdc44bfdfd48658c413f6a54420ef6
Autor:
Xiaofang Chen, Jia Fu, Ying Qian, Xiufang Zhi, Linjie Pu, Chunyu Gu, Jianbo Shu, Ling Lv, Chunquan Cai
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Low vitamin D levels may play a role in type 1 diabetes (T1D) susceptibility. Since 25(OH)D synthesis is genetically regulated, single nucleotide polymorphisms (SNPs) of important genes have also been shown to modulate the risk of T1D, so this study
Externí odkaz:
https://doaj.org/article/9e9070d633f44b1283f66b066777f41d
Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene
Autor:
Yan Liu, Wenchao Sheng, Jinying Wu, Jie Zheng, Xiufang Zhi, Shuyue Zhang, Chunyu Gu, Detong Guo, Wenhong Wang
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Proximal renal tubular acidosis (pRTA) with ocular abnormalities is an autosomal recessive disease caused by variants in the Solute Carrier Family 4 Member 4 (SLC4A4) gene. Patients present with metabolic acidosis and low plasma bicarbonate concentra
Externí odkaz:
https://doaj.org/article/a15311fe243f47fb982a2502f159cad4
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundMyelin oligodendrocyte glycoprotein-immunoglobulin G (MOG-IgG)-associated disorders (MOGADs) have been considered as a new inflammatory disease entity of the central nervous system (CNS) and have heterogeneous clinical and imaging presentat
Externí odkaz:
https://doaj.org/article/eb4ff12dbd564f17ba5267fb9739557a
Autor:
Xiufang Zhi, Qi Ai, Wenchao Sheng, Yuping Yu, Jianbo Shu, Changshun Yu, Xiaoli Yu, Dong Li, Chunquan Cai
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in ATP7A gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one pat
Externí odkaz:
https://doaj.org/article/dbcde37c53c74d19aca14c96d33370b2
Autor:
Dandan Yan, Shaopei Chen, Fengying Cai, Jianbo Shu, Xiufang Zhi, Jie Zheng, Chunhua Zhang, Dong Li, Chunquan Cai
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
BackgroundThe serine active site-containing protein 1 (SERAC1) biallelic variant usually causes MEGDEL syndrome, clinically characterized by increased excretion of 3-methylglutaconic in the urine, muscle hypotonia, sensorineural deafness, and Leigh-l
Externí odkaz:
https://doaj.org/article/5d3e7ddb40a846bdba4f0ab3d85d20eb
Autor:
Jianbo Shu, Xiufang Zhi, Jing Chen, Meifang Lei, Jie Zheng, Wenchao Sheng, Chunhua Zhang, Dong Li, Chunquan Cai
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Backgroundβ-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disor
Externí odkaz:
https://doaj.org/article/ecdbd498a2fd425690269eff14df7914