Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity.
Shi C et al.
Translational Pediatrics, 2023
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Uncovering Signals of Positive Selection in Peruvian Populations from Three Ecological Regions.
Caro-Consuegra R et al.
Molecular Biology and Evolution, 2022
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.
Shelihan I et al.
Jimd Reports, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
Tajima G et al.
Journal of Human Genetics, 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
A Metabolic Basis for Endothelial-to-Mesenchymal Transition.
Xiong J et al.
Molecular Cell, 2018
Sudden infant death from neonate carnitine palmitoyl transferase II deficiency.
Du SH et al.
Forensic Science International, 2017
Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.
Maltese PE et al.
Genetics and Molecular Research : Gmr, 2016
Carnitine palmitoyl transferase 2 polymorphism may be associated with enterovirus 71 severe infection in a Chinese population.
Liu P et al.
Archives of Virology, 2016
Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II.
Motlagh L et al.
Neurology. Genetics, 2016
Malony-CoA inhibits the S113L variant of carnitine-palmitoyltransferase II.
Motlagh L et al.
Biochimica Et Biophysica Acta, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy.
Yamamoto T et al.
Brain & Development, 2014
A case of recurrent acute encephalopathy with febrile convulsive status epilepticus with carnitine palmitoyltransferase II variation.
Sakai E et al.
Neuropediatrics, 2013
Single nucleotide polymorphism in CPT1B and CPT2 genes and its association with blood carnitine levels in acute myocardial infarction patients.
Khan HA et al.
Gene, 2013
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
Fanin M et al.
Clinical Genetics, 2012
Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children.
Kubota M et al.
Brain & Development, 2012
Characterization of compound missense mutation and deletion of carnitine palmitoyltransferase II in a patient with adenovirus-associated encephalopathy.
Yao D et al.
The Journal of Medical Investigation : Jmi, 2011
Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases.
Shinohara M et al.
Brain & Development, 2011
Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers.
Matsusue A et al.
Legal Medicine (tokyo, Japan), 2011
Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.
Yao D et al.
Human Mutation, 2008
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
Yasuno T et al.
Clinical Genetics, 2008
Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis.
Sellick GS et al.
Blood, 2008
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
Musumeci O et al.
Neuromuscular Disorders : Nmd, 2007
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
Isackson PJ et al.
Molecular Genetics and Metabolism, 2006
Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.
Chen Y et al.
Febs Letters, 2005