| Features of liver injury in 138 Chinese patients with NICCD. | Features of liver injury in 138 Chinese patients with NICCD.
Jiang M, Peng M, Lu Z, Shao Y, Liu Z, Li X, Lin Y, Liu L, Zhang W, Cai Y. | 01/8/2024 |
| Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency. | Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.
Lin J, Lin W, Lin Y, Peng W, Zheng Z. | 12/27/2023 |
| Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency. | Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency.
Sun W, Zhang X, Su H, Wang X, Qin F, Gong X, Wang B, Yu F. | 06/14/2023 |
| The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis. | The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis.
Nguyen MT, Nguyen AP, Ngo DN, Nguyen PT, Tang HS, Giang H, Lu YT, Nguyen HN, Tran MD. | 04/28/2023 |
| NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells. | NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Owusu-Ansah M, Guptan N, Alindogan D, Morizono M, Caldovic L., Free PMC Article | 04/17/2023 |
| The Overexpression of SLC25A13 Predicts Poor Prognosis and Is Correlated with Immune Cell Infiltration in Patients with Skin Cutaneous Melanoma. | The Overexpression of SLC25A13 Predicts Poor Prognosis and Is Correlated with Immune Cell Infiltration in Patients with Skin Cutaneous Melanoma.
Lv Y, Yuan CH, Han LY, Huang GR, Ju LC, Chen LH, Han HY, Zhang C, Zeng LH., Free PMC Article | 05/28/2022 |
| [Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency]. | [Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency].
Liu W, Ma X, Wang M, Ning H, Zhong X. | 01/29/2022 |
| Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age. | Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.
Arai-Ichinoi N, Kikuchi A, Wada Y, Sakamoto O, Kure S. | 01/22/2022 |
| Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia. | Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia.
Okano Y, Okamoto M, Yazaki M, Inui A, Ohura T, Murayama K, Watanabe Y, Tokuhara D, Takeshima Y. | 08/21/2021 |
| Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13. | Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13.
Lin WX, Deng LJ, Liu R, Qiu JW, Cheng Y, Zhang ZH, Chen FP, Song YZ. | 07/10/2021 |
| AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures. | AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.
Saheki T, Moriyama M, Funahashi A, Kuroda E., Free PMC Article | 03/13/2021 |
| Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13. | Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.
Köse MD, Kagnici M, Özdemir TR, Erdur CB, Erdemir G, Karakoyun M, Guzin Y, Ceylaner S, Genel F. | 10/31/2020 |
| based on the human deleterious mutations in citrin(SLC25A13), we found a potential inhibitor of citrin that restricts cancerous phenotypes in cells. Collectively, our findings suggest that targeting citrin may be of benefit for cancer therapy. | The mitochondrial carrier Citrin plays a role in regulating cellular energy during carcinogenesis.
Rabinovich S, Silberman A, Adler L, Agron S, Levin-Zaidman S, Bahat A, Porat Z, Ben-Zeev E, Geva I, Itkin M, Malitsky S, Buchaklian A, Helbling D, Dimmock D, Erez A. | 04/25/2020 |
| novel SLC25A13 mutation c.1841+3_1841+4delAA and the resultant abnormal splicing variant were discovered by combined DNA sequencing and cDNA cloning | [A novel SLC25A13 variant and the resultant aberrant transcript identified in a pedigree affected with citrin deficiency].
Deng M, Cheng Y, Shu S, Huang Z, Song Y. | 08/31/2019 |
| USF1 acts as a positive transcription factor which binds to the basal promoter thus ensuring SLC25A13 gene expression in a wide range of tissues. The role of FOXA2 is different, working as an activator in hepatic cells. As a tumour suppressor, FOXA2 could be responsible for SLC25A13 high expression levels in liver and its downregulation in hepatocellular carcinoma. | 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.
Convertini P, Todisco S, De Santis F, Pappalardo I, Iacobazzi D, Castiglione Morelli MA, Fondufe-Mittendorf YN, Martelli G, Palmieri F, Infantino V., Free PMC Article | 08/24/2019 |
| Analysis of SLC25A13 gene mutations in families affected by citrin deficiency | [Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency].
Shi S, Tang X, Shi Z, Zha Q, Cheng Y, Zhang Z, Xiao X, Yang Y, Song Y. | 06/29/2019 |
| Human SLC25A13 gene promoter is GC-rich and TATA-less with a dispersed transcription pattern. A GC box and a CCAAT box were predicted in the region upstream of the translational start site. The region from -221 to -1 upstream of translation initiation codon was essential for SLC25A13 transcription. A function analytical model of SLC25A13 gene promoter was established. | Bioinformatic and functional analysis of promoter region of human SLC25A13 gene.
Chen JL, Zhang ZH, Li BX, Cai Z, Zhou QH. | 03/23/2019 |
| There was a correlation between SLC25A13 gene mutations distribution and the GGT level in infants with neonatal intrahepatic cholestasis caused by citrin deficiency | Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients.
Lu CT, Shi QP, Li ZJ, Li J, Feng L., Free PMC Article | 10/27/2018 |
| All neonates have harbored mutations of the solute carrier family 25, member 13 protein (SLC25A13) gene, suggesting the SLC25A13 gene probably underlie the neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). | [Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency].
Xu J, Gao M, Lyu Y, Tang Y, Wei X, Yang L, Zhang K, Liu Y, Gai Z. | 06/9/2018 |
| These findings enriched the SLC25A13 mutation spectrum and brought new insights into the geographic distribution of the variations and genotypes, providing reliable evidences for Neonatal intrahepatic cholestasis caused by citrin deficiency definite diagnosis and for the determination of relevant molecular targets in different Chinese areas. | Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Lin WX, Zeng HS, Zhang ZH, Mao M, Zheng QQ, Zhao ST, Cheng Y, Chen FP, Wen WR, Song YZ., Free PMC Article | 06/2/2018 |
| Upregulation of GLUD1 and SLC25A13 was associated with tumor aggressiveness and poorer prognosis in colorectal cancer patients. | Metabolic Adaptation to Nutritional Stress in Human Colorectal Cancer.
Miyo M, Konno M, Nishida N, Sueda T, Noguchi K, Matsui H, Colvin H, Kawamoto K, Koseki J, Haraguchi N, Nishimura J, Hata T, Gotoh N, Matsuda F, Satoh T, Mizushima T, Shimizu H, Doki Y, Mori M, Ishii H., Free PMC Article | 06/2/2018 |
| The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c.851-854delGTAT+c.851-854delGTAT], [c.851-854delGTAT+IVS6+5G>A], [c.851-854delGTAT+IVS16ins3kb], [c.851-854delGTAT+IVS6-11A>G] and [c.851-854delGTAT+c.1638-1660dup23] | [Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
Lin Y, Yu K, Li L, Zheng Z, Lin W, Fu Q. | 03/17/2018 |
| The features of AGC1 structure and function in physiology and pathology, regulation by calcium, and dependency on mitochondrial membrane potential are reviewed. Review. | AGC1/2, the mitochondrial aspartate-glutamate carriers.
Amoedo ND, Punzi G, Obre E, Lacombe D, De Grassi A, Pierri CL, Rossignol R. | 10/28/2017 |
| the present study reported on clinical and molecular investigations of an infant with NICCD, who was confirmed to be a compound heterozygote of the c.851_854del4 mutation and a novel large deletion c.1019_1177+893del in the SLC25A13 gene. | SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency.
Zeng HS, Lin WX, Zhao ST, Zhang ZH, Yang HW, Chen FP, Song YZ, Yin ZN. | 04/8/2017 |
| The large deletion enriched the SLC25A13 mutation spectrum, and its identification supported the concept that cDNA cloning analysis, along with other molecular tools such as semiquantitative PCR, could provide valuable clues, facilitating the identification of obscure SLC25A13 deletions. | Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study.
Zheng QQ, Zhang ZH, Zeng HS, Lin WX, Yang HW, Yin ZN, Song YZ., Free PMC Article | 02/4/2017 |