Found: 23
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Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.
- Published in:
- Frontiers in Cell & Developmental Biology, 2023, p. 1, doi. 10.3389/fcell.2023.1270980
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- Publication type:
- Article
Pkhd1<sup>cyli/cyli</sup> mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease.
- Published in:
- Journal of Molecular Medicine, 2023, v. 101, n. 9, p. 1141, doi. 10.1007/s00109-023-02351-2
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- Publication type:
- Article
Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells: A mechanistic connection between the kidney defects in cpk mice and human ARPKD.
- Published in:
- FASEB Journal, 2023, v. 37, n. 7, p. 1, doi. 10.1096/fj.202300100R
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- Publication type:
- Article
NAGS , CPS1 , and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6754, doi. 10.3390/ijms24076754
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- Publication type:
- Article
Noncoding sequence variants define a novel regulatory element in the first intron of the N‐acetylglutamate synthase gene.
- Published in:
- Human Mutation, 2021, v. 42, n. 12, p. 1624, doi. 10.1002/humu.24281
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- Publication type:
- Article
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
- Published in:
- Frontiers in Physiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.542950
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- Publication type:
- Article
The Urine Microbiome of Healthy Men and Women Differs by Urine Collection Method.
- Published in:
- International Neurourology Journal, 2020, v. 24, n. 1, p. 41, doi. 10.5213/inj.1938244.122
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- Publication type:
- Article
AMP‐activated protein kinase signaling regulated expression of urea cycle enzymes in response to changes in dietary protein intake.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1088, doi. 10.1002/jimd.12133
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- Publication type:
- Article
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33457-0
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- Publication type:
- Article
Sources and Fates of Carbamyl Phosphate: A Labile Energy-Rich Molecule with Multiple Facets.
- Published in:
- Biology (2079-7737), 2018, v. 7, n. 2, p. 34, doi. 10.3390/biology7020034
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- Publication type:
- Article
Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
- Published in:
- Human Mutation, 2018, v. 39, n. 4, p. 527, doi. 10.1002/humu.23394
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- Publication type:
- Article
Whole exome sequencing in patients with white matter abnormalities.
- Published in:
- 2016
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- Publication type:
- journal article
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
- Published in:
- 2016
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- Publication type:
- journal article
Expression Pattern and Biochemical Properties of Zebrafish N-Acetylglutamate Synthase.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085597
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- Publication type:
- Article
Transcriptional Regulation of N-Acetylglutamate Synthase.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0029527
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- Publication type:
- Article
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1153, doi. 10.1002/humu.21553
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- Publication type:
- Article
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
- Published in:
- Application of Clinical Genetics, 2011, v. 4, p. 127, doi. 10.2147/TACG.S12702
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- Publication type:
- Article
Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods.
- Published in:
- BMC Biochemistry, 2008, v. 9, p. 1, doi. 10.1186/1471-2091-9-24
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- Publication type:
- Article
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1133, doi. 10.1002/humu.20558
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- Publication type:
- Article
Mutations and polymorphisms in the human N-acetylglutamate synthase ( NAGS) gene.
- Published in:
- 2007
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- Publication type:
- Other
Natural Variation in Expression of Urea Cycle Genes.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A664
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- Publication type:
- Article
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 293, doi. 10.1002/humu.20146
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- Publication type:
- Article
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 364, doi. 10.1007/s00439-003-0909-5
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- Publication type:
- Article