Associated Papers
Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.
Cai J et al.
Signal Transduction and Targeted Therapy, 2024
Abnormal Porphyrin Metabolism in Autism Spectrum Disorder and Therapeutic Implications.
Indika NR et al.
Molecular Neurobiology, 2024
Single-Nucleotide Polymorphisms Associated with Mercury Levels and Neurological Symptoms: An Overview.
Perini JA et al.
Toxics, 2024
Multi-omic stratification of the missense variant cysteinome.
Desai H et al.
Biorxiv : the Preprint Server for Biology, 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
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Barman-Aksözen J et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Polymorphism of receptor-type tyrosine-protein phosphatase delta gene in the development of non-alcoholic fatty liver disease.
Nakajima S et al.
Journal of Gastroenterology and Hepatology, 2018
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
Cloning, expression, and biochemical properties of CPOX4, a genetic variant of coproporphyrinogen oxidase that affects susceptibility to mercury toxicity in humans.
Li T et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology, 2009
The association between genetic polymorphisms of coproporphyrinogen oxidase and an atypical porphyrinogenic response to mercury exposure in humans.
Woods JS et al.
Toxicology and Applied Pharmacology, 2005
Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family.
Susa S et al.
American Journal of Medical Genetics, 1998
The association between a genetic polymorphism of coproporphyrinogen oxidase, dental mercury exposure and neurobehavioral response in humans.
Echeverria D et al.
Neurotoxicology and Teratology, 0