Associated Papers
Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.
Krishnan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Association of miR-149 gene rs2292832 polymorphism with necrotizing enterocolitis in preterm infants.
Qiu H et al.
The Turkish Journal of Pediatrics, 2025
Gene-Lifestyle Interactions in Renal Dysfunction: Polygenic Risk Modulation via Plant-Based Diets, Coffee Intake, and Bioactive Compound Interactions.
Liu M et al.
Nutrients, 2025
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.
Valo E et al.
Nature Communications, 2025
Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.
Wang C et al.
Nature Genetics, 2024
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Owusu-Ansah M et al.
International Journal of Molecular Sciences, 2023
Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.
Sun S et al.
International Journal of Molecular Sciences, 2023
Metabolic individuality: Limitations, challenges, and potential for clinical utility.
Elsea SH et al.
Cell Metabolism, 2023
High-throughput sequencing analysis of nuclear-encoded mitochondrial genes reveals a genetic signature of human longevity.
Gonzalez B et al.
Geroscience, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Nontargeted and Targeted Metabolomic Profiling Reveals Novel Metabolite Biomarkers of Incident Diabetes in African Americans.
Chen ZZ et al.
Diabetes, 2022
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.
Bonelli R et al.
Communications Biology, 2021
Mendelian Randomization Study on Amino Acid Metabolism Suggests Tyrosine as Causal Trait for Type 2 Diabetes.
Jäger S et al.
Nutrients, 2020
Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.
Koshiba S et al.
Communications Biology, 2020
Identification of type 2 diabetes loci in 433,540 East Asian individuals.
Spracklen CN et al.
Nature, 2020
Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect?
Hofmeister B et al.
Neuropediatrics, 2020
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
CPS1 T1405N polymorphism, HDL cholesterol, homocysteine and renal function are risk factors of VPA induced hyperammonemia among epilepsy patients.
Chen L et al.
Epilepsy Research, 2019
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Wuttke M et al.
Nature Genetics, 2019
Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.
Chu G et al.
Cancer Medicine, 2019
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.
Morris AP et al.
Nature Communications, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Risk Factors for Valproic Acid-induced Hyperammonaemia in Chinese Paediatric Patients with Epilepsy.
Zhu X et al.
Basic & Clinical Pharmacology & Toxicology, 2018
Role of Preemptive Genotyping in Preventing Serious Adverse Drug Events in South Korean Patients.
Kim GJ et al.
Drug Safety, 2017
Association between the p.Thr1406Asn polymorphism of the carbamoyl-phosphate synthetase 1 gene and necrotizing enterocolitis: A prospective multicenter study.
Moonen RM et al.
Scientific Reports, 2016
The structural origin of metabolic quantitative diversity.
Koshiba S et al.
Scientific Reports, 2016
Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency.
Yamaguchi M et al.
Pathology International, 2016
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.
Laemmle A et al.
Molecular Genetics and Metabolism, 2015
Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
Hu L et al.
Molecular Genetics and Metabolism, 2014
4217C>A polymorphism in carbamoyl-phosphate synthase 1 gene may not associate with hyperammonemia development during valproic acid-based therapy.
Inoue K et al.
Epilepsy Research, 2014
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
Diez-Fernandez C et al.
Human Mutation, 2013
Increased Occurrence of Valproic Acid-Induced Hyperammonemia in Carriers of T1405N Polymorphism in Carbamoyl Phosphate Synthetase 1 Gene.
Janicki PK et al.
Isrn Neurology, 2013
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
Funghini S et al.
Gene, 2012
Perioperative exacerbation of valproic acid-associated hyperammonemia: a clinical and genetic analysis.
Bezinover D et al.
Anesthesia and Analgesia, 2011
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
Martínez AI et al.
Molecular Genetics and Metabolism, 2010
Effect of CPS14217C>A genotype on valproic-acid-induced hyperammonemia.
Yagi M et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2010
Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.
Paré G et al.
Circulation. Cardiovascular Genetics, 2009
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.
Mitchell S et al.
Human Mutation, 2009
Human carbamoyl-phosphate synthetase: insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism.
Ahuja V et al.
Journal of Inherited Metabolic Disease, 2008