Results 151 to 160 of about 2,676,573 (175)

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Human Genetics, 2000
Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific deficiency of argininosuccinate synthetase (ASS) protein. We have recently identified the gene responsible for CTLN2, viz., SLC25A13, which encodes a calcium-binding mitochondrial carrier protein, designated citrin, and found five mutations of the SLC25A13 gene in CTLN2 ...
Takeyori Saheki, Tomotsugu Yasuda, Meng Xian Li   +2 more
exaly   +3 more sources

A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing

Gene, 2014
Type II citrullinaemia, also known as citrin deficiency, is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3. One of the clinical manifestations of type II citrullinaemia is neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency (NICCD, OMIM# 605814).
Gang, Liu, Xiaoming, Wei, Rui, Chen, Hanlin, Zhou, Xiaoyan, Li, Yan, Sun, Shuqi, Xie, Qian, Zhu, Ning, Qu, Guanghui, Yang, Yuxing, Chu, Haitao, Wu, Zhangzhang, Lan, Jinming, Wang, Yi, Yang, Xin, Yi   +15 more
openaire   +2 more sources

Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene

Journal of the Neurological Sciences, 2001
Ž . Citrullinemia type II CTLN2; OMIM 603471 is caused by the abnormality of the SLC25A13 gene, which encodes a calcium-binding mitochondrial carrier protein, designated w x citrin 1 . We reported a 64-year-old man with CTLN2 whose serum citrulline levels fluctuated between normal and abnormally high during episodic manifesting periods w x 2 .
Takeyori Saheki, Hirofumi Maruyama, Takeshi Nishio   +2 more
exaly   +2 more sources

[Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
To explore the characteristics of SLC25A13 gene variants in 16 infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).The infants were subjected to high-throughput DNA sequencing for coding exons and flanking regions of the target genes.
Wenwen, Liu, Xin, Ma, Meijuan, Wang, Huijuan, Ning, Xuemei, Zhong   +4 more
openaire   +1 more source

[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2011
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia and so on. This study aimed to identify the mutation type of NICCD patients by DNA sequencing.Twenty children diagnosed as NICCD were ...
Peng-Qiang, Wen, Guo-Bing, Wang, Zhan-Ling, Chen, Dong, Cui, Quan, Yuan, Ping, Song, Shu-Li, Chen, Jian-Xiang, Liao, Cheng-Rong, Li   +8 more
openaire   +1 more source

[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
To detect potential mutations in six patients with citrullinemia.Genomic DNA was extracted from peripheral blood samples from the patients. Mutations of the ASS1, ASL and SLC25A13 genes were screened using microarray genotyping combined with direct sequencing.One patient was diagnosed with argininosuccinate lyase deficiency, and has carried a ...
Yiming, Lin, Ke, Yu, Lufeng, Li, Zhenzhu, Zheng, Weihua, Lin, Qingliu, Fu   +5 more
openaire   +1 more source

[Analysis of clinical features and SLC25A13 gene mutations in a family affected with neonatal intrahepatic cholestasis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2017
To analyze the clinical features and potential mutations of the SLC25A13 gene in a boy affected with neonatal intrahepatic cholestasis.Clinical data and peripheral venous blood sample of the child, and peripheral venous blood samples of both parents, were collected.
Ling, Wang, Xinran, Cheng, Li, Yan, Yan, Wei, Fang, Tang, Xin, Dong, Yanjiao, Yuan, Yanmei, Xie   +7 more
openaire   +1 more source

[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2010
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, MIM#605814) is an inherited metabolic disease resulting from mutations of the gene SLC25A13, which encodes citrin, a liver-type mitochondrial aspartate-glutamate carrier. Mutation analysis is necessary for definitive diagnosis of NICCD patients.
Yuan-Zong, Song, Miharu, Ushikai, Jian-sheng, Sheng, Mikio, Iijima, Keiko, Kobayashi   +4 more
openaire   +1 more source

Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency

Gene, 2012
Human SLC25A13 gene encodes citrin, the liver-type aspartate-glutamate carrier isoform 2, and SLC25A13 mutations lead to citrin deficiency (CD). The definitive diagnosis of CD relies on SLC25A13 analysis, but conventional DNA analysis could not identify all SLC25A13 mutations.
Zhan-Hui, Zhang, Wei-Xia, Lin, Mei, Deng, Xin-Jing, Zhao, Yuan-Zong, Song   +4 more
openaire   +2 more sources

[SLC25A13 gene mutations in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology, 2010
To explore whether SLC25A13 gene mutation exists and what is its mutation spectrum in mainland Chinese infants with intrahepatic cholestasis and abnormal blood amino acids.Blood amino acids were analyzed by mass chromatographic analysis in infants referred to Fudan University Children's Hospital from June 2003 to June 2007 for investigations of ...
Shao-ren, Zhang, Jian-she, Wang, Xiao-hong, Wang, Qi-rong, Zhu, Li-yan, Liu   +4 more
openaire   +1 more source