Results 81 to 90 of about 1,678 (140)

A rare case report: multiple intrahepatic masses in a pediatric patient with citrin deficiency

Discover Oncology
Deficiency of citrin, the liver-type aspartate-glutamate carrier, arises from biallelic mutations of the gene SLC25A13. Although citrin deficiency (CD) is associated with higher risk of hepatocellular carcinoma (HCC) in adult patients, this association ...
Hui Lin, Hong Jiang, Qiang Chen, Xiang Pan, Mei Deng, Xiang-Ran Cai, Yuan-Zhi Lu, Yuan-Zong Song, Jun-Cheng Liu   +8 more
doaj   +1 more source

Conservation of Intronic Sequences in Vertebrate Mitochondrial Solute Carrier Genes (Zebrafish, Chicken, Mouse and Human)

Non-Coding RNA, 2019
The conservation of intronic sequences was studied in the mitochondrial solute carrier (SLC25A*) genes of Zebrafish, Chicken, Mouse and Human. These genes are homologous and the coding sequences have been well conserved throughout Vertebrates, but the ...
Rosa Calvello, Antonia Cianciulli, Vincenzo Mitolo, Annalisa Porro, Maria Antonietta Panaro   +4 more
doaj   +1 more source

Native places of the 116 Chinese patients with citrin deficiency.

, 2013
By the end of February in 2013, 116 Chinese patients from 21 provinces, municipalities and autonomous regions in China were diagnosed by SLC25A13 gene analysis by our group.
Mei Deng (460870), Shun Soneda (460876), Feng-Ping Chen (460872), Xiao-Ling Long (460873), Takeyori Saheki (460880), Li Guo (171454), Keiko Kobayashi (28676), Yan-Li Ma (460871), Lock-Hock Ngu (460879), Sumito Dateki (460878), Akiko Nakatomi (460877), Yuan-Zong Song (460866), Wei-Xia Lin (460868), Xiang-Ling He (460874), Xin-Jing Zhao (460869), Zhan-Hui Zhang (460867), Yoshihide Sunada (460875)   +16 more
core   +1 more source

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

, 1999
Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a liver-specific ASS deficiency with no abnormalities in hepatic ASS mRNA ...
Saheki, T, Boright, AP, Scherer, SW, Ryuki Hirano, Hirano, R, Andrew P. Boright, Ikeda, S, Mikio Iijima, Tsui, LC, Michael A. Crackower, Tomotsugu Yasuda, Begum, L, Lap-Chee Tsui, David S. Sinasac, Jeffrey R. Lee, Crackower, MA, Sayaka Ikeda, Yasuda, T, Iijima, M, Terazono, H, Takeyori Saheki, Stephen W. Scherer, Keiko Kobayashi, Kondo, I, Sinasac, DS, Laila Begum, Hiroki Terazono, Kobayashi, K, Ikuko Kondo, Lee, JR   +29 more
core   +1 more source

Clinical significance of elevated serum citrulline levels in patients with epilepsy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Objective To discuss the clinical significance of elevated serum citrulline levels in patients with epilepsy, and to provide new idea for improving the curative effect of antiepileptic drugs (AEDs).
Yan ZHANG, Yan-ling CHEN, Mei-mei HAO, Na QIN, Yan-chun DENG   +4 more
doaj  

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]

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 ...
Guo, Li, Chen, Feng-Ping, Long, Xiao-Ling, Saheki, Takeyori, Ma, Yan-Li, Ngu, Lock-Hock, He, Xiang-Ling, Sunada, Yoshihide, Nakatomi, Akiko, Zhang, Zhan-Hui, Lin, Wei-Xia, Song, Yuan-Zong, Deng, Mei, Soneda, Shun, Dateki, Sumito, Kobayashi, Keiko, Zhao, Xin-Jing   +16 more
core  

Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant

The Turkish Journal of Pediatrics
Background. Citrin deficiency (CD), caused by mutations in the SLC25A13 gene, is a rare autosomal recessive urea cycle disorder with variable clinical presentations depending on age.
Arzu Selamioğlu, Şebnem Kılıç, Ayça Dilruba Aslanger, Meryem Karaca, Mehmet Cihan Balcı, Zehra Oya Uyguner, Gülden Gökçay   +6 more
doaj   +1 more source

Inborn errors of metabolism and hepatic disease

, 2007
Inborn errors of metabolism (IEM) have many clinical manifestations and often prove difficult to diagnose. Hepatic disease is a common feature of many IEM, and may exist in isolation or as part of a wider clinical constellation of multisystem pathology ...
Coman, David John
core  

Lactate-related gene signatures predict prognosis and immune profiles in esophageal squamous cell carcinoma

Scientific Reports
Previous studies have demonstrated the detrimental effects of lactate on patients with esophageal squamous cell carcinoma (ESCC). In this study, six lactate-related hub genes (SLC16A7, GFM1, PDP1, TRMT5,COX5A, and KIF23) were identified in ESCC ...
Xianbing Wang, Jiaying Jiang, Hongjie He, Yi Wang   +3 more
doaj   +1 more source

Homozygous Slc25a13 Mutation in a Taiwanese Patient with Adult-Onset Citrullinemia Complicated with Steatosis and Hepatocellular Carcinoma

, 2009
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.
蔡靜瑋;楊智超;陳慧玲;胡務亮;吳木榮;劉高郎;吳明賢, TSAI, CHING-WEI;YANG, CHIH-CHAO;CHEN, HUEY-LING;HWU, WUH-LIANG;WU, MU-ZON;LIU, KAO-LANG;WU, MING-SHIANG   +1 more
core