Results 1 to 10 of about 2,676,573 (175)

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. [PDF]

PLoS ONE, 2013
BACKGROUND: The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical ...
Yuan-Zong Song, Zhan-Hui Zhang, Wei-Xia Lin, Xin-Jing Zhao, Mei Deng, Yan-Li Ma, Li Guo, Feng-Ping Chen, Xiao-Ling Long, Xiang-Ling He, Yoshihide Sunada, Shun Soneda, Akiko Nakatomi, Sumito Dateki, Lock-Hock Ngu, Keiko Kobayashi, Takeyori Saheki   +16 more
doaj   +9 more sources

Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report [PDF]

BMC Pediatrics, 2019
Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants.
Linlin Zhang, Yingying Li, Wenli Shi, Jinshuang Gao, Yuan Tian, Ying Li, Yaqing Guo, Shihong Cui, Xiaoan Zhang   +8 more
doaj   +7 more sources

Homozygous SLC25A13 Mutation in a Taiwanese Patient with Adult-onset Citrullinemia Complicated with Steatosis and Hepatocellular Carcinoma

Journal of the Formosan Medical Association, 2006
Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene.
Ching-Wei Tsai, Ming-Shiang Wu
doaj   +5 more sources

Primary sclerosing cholangitis complicated with ulcerative colitis and double gene mutations of UGT1A1 and SLC25A13: a case report [PDF]

Frontiers in Medicine
BackgroundPrimary sclerosing cholangitis (PSC) is the most common and clinically significant hepatobiliary extraintestinal manifestation of ulcerative colitis (UC), bringing considerable difficulties to clinical diagnosis and treatment and carrying a ...
Yamei Shi, Kun Chen, Jun Ye, Mei Yang
doaj   +3 more sources

Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of SLC25A13 Gene Mutations in Hefei, China [PDF]

International Journal of Neonatal Screening
Citrin deficiency (CD) is an autosomal recessive disorder and represents one of the urea cycle disorders. This study aims to analyze the detection rate, clinical features, and genetic mutation characteristics of neonatal intrahepatic cholestasis caused ...
Qingqing Ma, Junxing Chen, Yong Huang, Yan Wang, Wangsheng Song, Hongyu Xu, Yuhui Wan, Haili Hu   +7 more
doaj   +3 more sources

Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes [PDF]

Jornal de Pediatria
Objective: Citrin deficiency (CD) is an autosomal recessive disease caused by mutations in the SLC25A13 gene. This study aimed to expand the current body of data on Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency ...
Lingli Chen, Jingan Lou, Youyou Luo, Youhong Fang, Mingfang Sun, Jindan Yu   +5 more
doaj   +2 more sources

Comprehensive analysis of circRNA-miRNA-mRNA networks to reveal potential cell death, inflammation and oxidative stress-related targets for postoperative cognitive dysfunction [PDF]

Frontiers in Aging Neuroscience
BackgroundPostoperative cognitive dysfunction (POCD) is a common neurological complication involving the hippocampus, a brain region critical for learning and memory. Circular RNA (circRNA) plays an important role in regulating gene expression.
Yajing Zhang, Yajing Zhang, Shujun Lu, Ying Yu, Ying Yu, Zhe Yan, Zhe Yan, Qingling Qi, Qingling Qi   +8 more
doaj   +2 more sources

Looking beyond severe hypertriglyceridemia when diagnosing adult-onset citrullinemia type II [PDF]

European Journal of Case Reports in Internal Medicine
Background: Adult-onset citrullinemia type II (CTLN2) is a rare autosomal recessive urea cycle disorder caused by mutations in the solute carrier family 25 member 13 (SLC25A13) gene, which encodes citrin–a mitochondrial transporter involved in the malate–
Thanh-Huong Truong, Ngoc-Thanh Kim, Doan-Loi Do, Minh-Phuong Vu, Mai-Ngoc Thi Nguyen, Hong-An Le, Thanh-Tung Le   +6 more
doaj   +2 more sources

A pediatric case of citrin deficiency presenting with recurrent hypertriglyceridemic pancreatitis-a case report [PDF]

Frontiers in Pediatrics
Citrin deficiency (CD) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the SLC25A13 gene, which encodes the mitochondrial aspartate-glutamate carrier 2, also known as citrin.
Ruyi Ye, Puhong Zhang, Yong Gu, Gang Feng, Yue Qu, Hongchuan Zhang, Wei Wei, Lizhu Huang   +7 more
doaj   +2 more sources

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review [PDF]

Human Genomics
Objective In China, research on expanded carrier screening (ECS) has exhibited significant inconsistencies due to regional variations, with a lack of large-scale data analysis of the population nationwide.
Yirong Xia, Yinan Ma
doaj   +2 more sources