Published in Nat Genet on June 01, 1999
Signals of recent positive selection in a worldwide sample of human populations. Genome Res (2009) 8.38
The mitochondrial transporter family (SLC25): physiological and pathological implications. Pflugers Arch (2003) 3.76
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. EMBO J (2001) 1.74
Genetic determinants of hepatic steatosis in man. J Lipid Res (2011) 1.52
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis (2007) 1.20
Sal1p, a calcium-dependent carrier protein that suppresses an essential cellular function associated With the Aac2 isoform of ADP/ATP translocase in Saccharomyces cerevisiae. Genetics (2004) 1.17
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. PLoS One (2013) 1.16
Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Hum Mol Genet (2012) 1.11
Mitochondrial transporters of the SLC25 family and associated diseases: a review. J Inherit Metab Dis (2014) 1.05
Contrasting features of urea cycle disorders in human patients and knockout mouse models. Mol Genet Metab (2007) 1.04
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. Hum Genet (2000) 1.02
Physiological and pathological roles of mitochondrial SLC25 carriers. Biochem J (2013) 1.00
Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues. Biochem J (2000) 0.99
A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency. Eur J Pediatr (2003) 0.98
Glutamate as a neurotransmitter in the healthy brain. J Neural Transm (Vienna) (2014) 0.97
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. Eur J Hum Genet (2009) 0.97
Expression pattern of a nuclear encoded mitochondrial arginine-ornithine translocator gene from Arabidopsis. BMC Plant Biol (2003) 0.96
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. Mol Cell Biol (2004) 0.94
Role of the malate-aspartate shuttle on the metabolic response to myocardial ischemia. J Theor Biol (2008) 0.92
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet (2011) 0.91
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Orphanet J Rare Dis (2014) 0.89
Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis. World J Gastroenterol (2013) 0.87
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging. J Inherit Metab Dis (2004) 0.87
Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis. World J Gastroenterol (2010) 0.86
The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia. J Gastroenterol (2010) 0.86
Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency. JIMD Rep (2011) 0.85
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency. J Inherit Metab Dis (2012) 0.84
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients. J Inherit Metab Dis (2010) 0.84
Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation. J Neurol Neurosurg Psychiatry (2001) 0.83
Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers. Nat Commun (2014) 0.83
Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening. J Inherit Metab Dis (2002) 0.83
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. J Korean Med Sci (2007) 0.83
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants. BMC Gastroenterol (2012) 0.82
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). PLoS One (2014) 0.82
Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate. J Inherit Metab Dis (2008) 0.81
Novel variants of human SCaMC-3, an isoform of the ATP-Mg/P(i) mitochondrial carrier, generated by alternative splicing from 3'-flanking transposable elements. Biochem J (2005) 0.80
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. Biomed Res Int (2016) 0.79
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. Int J Mol Med (2014) 0.78
A novel genetic locus linked to pro-inflammatory cytokines after virulent H5N1 virus infection in mice. BMC Genomics (2014) 0.78
Screening of SLC25A13 mutation in the Thai population. World J Gastroenterol (2013) 0.78
Citrin deficiency presenting as acute liver failure in an eight-month-old infant. World J Gastroenterol (2015) 0.77
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. Sci Rep (2016) 0.77
Reduced carbohydrate intake in citrin-deficient subjects. J Inherit Metab Dis (2008) 0.77
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency. J Inherit Metab Dis (2006) 0.76
Biochemical characteristics of neonatal cholestasis induced by citrin deficiency. World J Gastroenterol (2012) 0.76
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Hum Genet (2015) 0.76
Case report: An adult-onset type II citrin deficiency patient in the emergency department. Exp Ther Med (2016) 0.75
Biochemical and molecular characteristics of citrin deficiency in Korean children. J Hum Genet (2016) 0.75
Cloning and sequence analysis of SLC25A13 transcripts in human amniocytes. Transl Pediatr (2012) 0.75
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia. Mol Genet Metab Rep (2014) 0.75
Liver transplantation in an adult with citrullinaemia type 2. J Transplant (2011) 0.75
Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood. Eur J Pediatr (2004) 0.75
Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine. Exp Ther Med (2017) 0.75
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
A perpendicular-anisotropy CoFeB-MgO magnetic tunnel junction. Nat Mater (2010) 7.78
In vitro and in vivo antibacterial activity of T-1220, a new semisynthetic penicillin. Antimicrob Agents Chemother (1977) 7.35
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet (1997) 6.83
Comprehensive analysis of microRNA expression patterns in hepatocellular carcinoma and non-tumorous tissues. Oncogene (2006) 6.61
Temporally regulated and tissue-specific gene manipulations in the adult and embryonic heart using a tamoxifen-inducible Cre protein. Circ Res (2001) 6.15
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science (1985) 5.81
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet (1996) 5.70
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature (1990) 5.42
A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature (1985) 5.07
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). N Engl J Med (1990) 4.70
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med (1990) 4.60
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet (2001) 4.58
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics (1991) 4.27
Drosophila rhomboid-1 defines a family of putative intramembrane serine proteases. Cell (2001) 4.20
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Cell (1996) 4.13
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell (1990) 3.70
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res (2006) 3.68
Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. Development (1997) 3.66
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59
Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance. Cell (1991) 3.56
Metalloproteinase-mediated release of human Fas ligand. J Exp Med (1995) 3.53
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet (1996) 3.50
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell (1997) 3.42
Axin, a negative regulator of the wnt signaling pathway, directly interacts with adenomatous polyposis coli and regulates the stabilization of beta-catenin. J Biol Chem (1998) 3.39
Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet (1995) 3.27
Phosphorylation of axin, a Wnt signal negative regulator, by glycogen synthase kinase-3beta regulates its stability. J Biol Chem (1999) 3.22
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet (1994) 3.17
DIX domains of Dvl and axin are necessary for protein interactions and their ability to regulate beta-catenin stability. Mol Cell Biol (1999) 3.17
Multi-ion pore behaviour in the CFTR chloride channel. Nature (1993) 3.14
A suggested nomenclature for designating mutations. Hum Mutat (1993) 3.10
Catastrophic outcomes of noncardiac surgery soon after coronary stenting. J Am Coll Cardiol (2000) 3.01
Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5. Nucleic Acids Res (2001) 2.89
Search for a resonance decaying into WZ boson pairs in pp collisions. Phys Rev Lett (2010) 2.83
Flexible bronchofiberscope. Keio J Med (1968) 2.82
Risk of recurrent seizures after two unprovoked seizures. N Engl J Med (1998) 2.74
High-resolution mapping of mammalian genes by in situ hybridization to free chromatin. Proc Natl Acad Sci U S A (1992) 2.72
Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet (1990) 2.72
Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem (1993) 2.69
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet (1996) 2.65
A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet (1993) 2.64
Introduction and recovery of a selectable bacterial gene from the genome of mammalian cells. Mol Cell Biol (1982) 2.59
A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11. Gene (1993) 2.59
Two cases of early gallbladder cancer incidentally discovered by laparoscopic cholecystectomy. Surg Laparosc Endosc (1995) 2.57
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet (1993) 2.56
Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet (2001) 2.55
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet (1998) 2.51
Purification of exfoliatin produced by Staphylococcus aureus of bacteriophage group 2 and its physicochemical properties. Infect Immun (1973) 2.50
Detection of mRNA for the tax1/rex1 gene of human T-cell leukemia virus type I in fresh peripheral blood mononuclear cells of adult T-cell leukemia patients and viral carriers by using the polymerase chain reaction. Proc Natl Acad Sci U S A (1989) 2.49
Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet (1992) 2.48
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet (2000) 2.38
Modes of DAPI banding and simultaneous in situ hybridization. Chromosoma (1993) 2.38
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med (1990) 2.37
Axil, a member of the Axin family, interacts with both glycogen synthase kinase 3beta and beta-catenin and inhibits axis formation of Xenopus embryos. Mol Cell Biol (1998) 2.33
Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily. J Biol Chem (1986) 2.31
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet (2001) 2.30
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet (1996) 2.29
Genetic ablation: targeted expression of a toxin gene causes microphthalmia in transgenic mice. Science (1987) 2.27
Permeability of wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride channels to polyatomic anions. J Gen Physiol (1997) 2.26
EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines. Genomics (2009) 2.26
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet (1991) 2.26
Cisplatin neurotoxicity presenting as reversible posterior leukoencephalopathy syndrome. AJNR Am J Neuroradiol (1998) 2.24
Adenocarcinoma of the stomach: review of 1,497 cases. Cancer (1978) 2.23
Functional neuroimaging studies of reading and reading disability (developmental dyslexia). Ment Retard Dev Disabil Res Rev (2000) 2.22
Inhibition of LDL oxidation by cocoa. Lancet (1996) 2.16
Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site. Proc Natl Acad Sci U S A (1998) 2.16
Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage. J Biol Chem (1999) 2.15
Brief report: recognition of acute myocarditis masquerading as acute myocardial infarction. N Engl J Med (1993) 2.14
Identification of a metaplastic cell lineage associated with human gastric adenocarcinoma. Lab Invest (1999) 2.10
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet (2000) 2.09
Mercury and cadmium resistances mediated by the penicillinase plasmid in Staphylococcus aureus. J Bacteriol (1974) 2.09
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics (1991) 2.07
Preoperative intradermal acupuncture reduces postoperative pain, nausea and vomiting, analgesic requirement, and sympathoadrenal responses. Anesthesiology (2001) 2.00
Structure-function relationship of the eukaryotic DNA replication factor, proliferating cell nuclear antigen. J Biol Chem (1995) 1.99
The diagnosis of a DRESS syndrome has been sufficiently established on the basis of typical clinical features and viral reactivations. Br J Dermatol (2007) 1.97
Unique cholesteryl glucosides in Helicobacter pylori: composition and structural analysis. J Bacteriol (1995) 1.97
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci U S A (1998) 1.93
Neurobiological studies of reading and reading disability. J Commun Disord (2001) 1.93
Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kgamma. Nature (2000) 1.93
Synthesis and antiviral activity evaluation of some aminoadamantane derivatives. J Med Chem (1994) 1.91
Possible relationship of a 36-megadalton Salmonella enteritidis plasmid to virulence in mice. Infect Immun (1985) 1.91
Methods for analysis of multiple cystic fibrosis mutations. Hum Genet (1991) 1.88
In vitro and in vivo antibacterial activity of T-1982, a new semisynthetic cephamycin antibiotic. Antimicrob Agents Chemother (1982) 1.87
A precision measurement of the mass of the top quark. Nature (2004) 1.87
A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Nat Genet (2001) 1.86