Results 11 to 20 of about 2,676,573 (175)

p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency [PDF]

The Turkish Journal of Pediatrics, 2017
Citrin deficiency is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3, as the causative gene that encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2). One of the
Berna Şeker-Yılmaz, Deniz Kör, Gökhan Tümgör, Serdar Ceylaner, Neslihan Önenli-Mungan   +4 more
doaj   +7 more sources

Identification and Validation of cGAS‐STING Pathway‐Associated Predictive and Therapeutic Models for Esophageal Squamous Cell Cancer Patients via Artificial Intelligence and Multi‐Omics [PDF]

Cancer Medicine
Background Esophageal squamous cell cancer (ESCC) is a malignancy derived from the Esophagus, and dysregulation of the cGAS‐STING pathway contributes to ESCC progression.
Chunyang Zhou, Xiaoli Liu, Zijian Wang, Tao Yang   +3 more
doaj   +3 more sources

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD) [PDF]

JIMD Reports
Both citrin deficiency (CD) and citrullinemia type I (CTLN1) may be detected by elevated citrulline through newborn screening (NBS) or present as acute liver failure in later infancy, but they differ significantly in management. This may pose therapeutic
Hoi‐Yin Chan, Rosanna Wong, Cheuk‐Wing Fung, Kiran Moti Belaramani, Chloe Miu Mak, Matthew Yeung, Toby Chan, Carmen Yeung, Yvonne Kwok, Anne Mei‐Kwun Kwok   +9 more
doaj   +3 more sources

SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinoma

Molecular Genetics and Metabolism, 2011
Mutations of the SLC25A13 gene, which encodes citrin, result in adult-onset type II citrullinemia (CTLN2). Because CTLN2 has been associated with hepatocellular carcinoma (HCC) and may be involved in hepatocarcinogenesis, the objective of this study was to assess the frequency of SLC25A13 mutations in patients with non-viral HCC. A retrospective review
Kuei-Wen, Chang, Huey-Ling, Chen, Yin-Hsiu, Chien, Tse-Ching, Chen, Chau-Ting, Yeh   +4 more
openaire   +3 more sources

Genomic Structure of the Adult-Onset Type II Citrullinemia Gene, SLC25A13, and Cloning and Expression of Its Mouse Homologue

Genomics, 1999
Citrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. Adult-onset type II citrullinemia (CTLN2) is a form of the disease that is defined by a quantitative decrease in ASS protein, but with normal kinetic properties.
Lee, JR, Scherer, SW, Saheki, T, Kobayashi, K, Crackower, MA, Sinasac, DS, Tsui, LC   +6 more
openaire   +5 more sources

Citrin deficiency mimicking mitochondrial depletion syndrome

BMC Pediatrics, 2020
Background Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin.
S. C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A. J. Mueller, S. Beck-Wödl, T. B. Haack, H. Schneider, H. Fuchs, U. Teufel, G. Gramer, L. Hannibal, U. Spiekerkoetter   +13 more
doaj   +2 more sources

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants [PDF]

BMC Gastroenterology, 2012
Background The most common causes of cholestatic jaundice are biliary atresia and idiopathic neonatal hepatitis (INH). Specific disorders underlying INH, such as various infectious and metabolic causes, including neonatal intrahepatic cholestasis caused ...
Treepongkaruna Suporn, Jitraruch Suttiruk, Kodcharin Porawee, Charoenpipop Dussadee, Suwannarat Pim, Pienvichit Paneeya, Kobayashi Keiko, Wattanasirichaigoon Duangrurdee   +7 more
doaj   +3 more sources

CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE.

Genetic counseling (Geneva, Switzerland), 2015
We report the first Turkish patient with citrin deficiency detected incidentally by phenylketonuria screening. Mild cholestasis, increased α-fetoprotein level, aminoacidemia including citrulline and coagulation disorder suggested citrin deficiency. Screening the SLC25A13 gene revealed compound heterozygosity harboring a novel mutation, c.851-854delGTAT
Aktuglu Zeybek, Ayse Cigdem, Kıykım, Ertu?rul, Zübarioğlu, Tanyel, Cansever, Mehmet Şerif, Ceylaner, Serdar, Erkan, Tülay   +5 more
core   +6 more sources

Identification and validation of lactate-related gene signatures in endometriosis for clinical evaluation and immune characterization by WGCNA and machine learning [PDF]

Frontiers in Cell and Developmental Biology
BackgroundEndometriosis is a common benign gynecologic disease in women of reproductive age, and its manifestations remarkably decrease quality of life. Lactate, as a metabolite, exerts prominent effects across a wide range of biological processes.
Jixin Li, Xinya Hu, Caiyi Pan, Qing Liu, Siyang Zhang, Chiyuan Zhang, Xin Zhou   +6 more
doaj   +2 more sources

Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency [PDF]

Frontiers in Pediatrics
BackgroundThe diagnostic criteria of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) have not been established due to non-specific clinical manifestations, and our understanding on the treatment outcome is still limited.
Juan Li, Jintao Duan, Shuli He, Ying Li, Meifen Wang, Chengjun Deng   +5 more
doaj   +2 more sources