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There was a correlation between SLC25A13 gene mutations distribution and the GGT level in infants with neonatal intrahepatic cholestasis caused by citrin deficiency
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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).
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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.
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Upregulation of GLUD1 and SLC25A13 was associated with tumor aggressiveness and poorer prognosis in colorectal cancer patients.
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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]
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The features of AGC1 structure and function in physiology and pathology, regulation by calcium, and dependency on mitochondrial membrane potential are reviewed. Review.
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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.
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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.
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Data indicate that the patient was a compound heterozygote carrying c.851_854delGTAT and IVS16ins3kb mutations of the mitochondrial carrier citrin protein (SLC25A13) gene, which were respectively inherited from his mother and father.
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Structure of the calcium bound and calcium free N- and C-terminal domains is described, elucidating the mechanism of calcium regulation.
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This study aims to screen for five prevalent SLC25A13 mutations, to calculate the mutation carrier rate in Guangdong.
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we reviewed the English literature on mutations in the SLC25A13 gene, and its genotype-phenotype correlations to provide valuable insights into the molecular genetic background of citrullinemia--{REVIEW}
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Mutation screening of the SLC25A13 gene revealed the compound heterozygous mutations c.1081C>T (p.R361*) and c.74C>A (p. A25E) which confirmed the diagnosis of NICCD. The nonsense mutation c.1081C>T (p.R361*) is novel.
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Point mutation of ASS1, ASL and SLC25A13 is associated with citrullinemia.
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Identification of novel SLC25A13 gene mutations in East Asian patients with citrin deficiency.
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Analysis of the SLC25A13 gene sequence.
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Report frequency SLC25A13 mutations in the Thai population and estimate prevalence of citrin deficiency.
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The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis.
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The first two cases of NICCD are described in infants from the UK, one of Caucasian and one of Pakistani origin.
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Compares and contrasts all the known human SLC25A* genes and includes functional information.
