Results 121 to 130 of about 1,678 (140)

Frequency and Distribution in East Asia of 12 Mutations Identified in the SLC25A13 Gene of Japanese Patients With Citrin Deficiency

Journal of Human Genetics, 2005
Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with ...
Kwang-Jen Hsiao, Yanling Yang, Yu-lung Lau   +2 more
exaly   +2 more sources

Transcriptional Regulation Factors of the Human Mitochondrial Aspartate/Glutamate Carrier Gene, Isoform 2 (SLC25A13): USF1 as Basal Factor and FOXA2 as Activator in Liver Cells [PDF]

International Journal of Molecular Sciences, 2019
Mitochondrial carriers catalyse the translocation of numerous metabolites across the inner mitochondrial membrane, playing a key role in different cell functions. For this reason, mitochondrial carrier gene expression needs tight regulation.
Dominga Iacobazzi, Giuseppe Biagio Giovanni MARTELLI, Paolo Convertini   +2 more
exaly   +2 more sources

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Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency With SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report

Medicina (Lithuania), 2021
Wen-Li Lu, an-chyi Chen, Chung-Hsing Wang   +2 more
exaly  

Different Regional Distribution of SLC25A13 Mutations in Chinese Patients With Neonatal Intrahepatic Cholestasis

World Journal of Gastroenterology, 2013
Takeyori Saheki
exaly  

Clinical Findings in Five Turkish Patients With Citrin Deficiency and Identification of a Novel Mutation on SLC25A13

Journal of Pediatric Endocrinology and Metabolism, 2020
Miray Karakoyun, Serdar Ceylaner, Taha Reşid Özdemir   +2 more
exaly  

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
Takeyori Saheki, Tomotsugu Yasuda, Meng Xian Li   +2 more
exaly  

Screening of SLC25A13 Mutations in Early and Late Onset Patients With Citrin Deficiency and in the Japanese Population: Identification of Two Novel Mutations and Establishment of Multiple DNA Diagnosis Methods for Nine Mutations

Human Mutation, 2002
Takeyori Saheki, Tomotsugu Yasuda, Ikuko Kondo   +2 more
exaly  

Screening of SLC25A13 Mutation in the Thai Population

World Journal of Gastroenterology, 2013
Shigeo Kure, Chonlaphat Sukasem, Atsuo Kikuchi   +2 more
exaly