Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation.
Zhang QH et al.
Bmc Medical Genomics, 2022
Iron overload phenotypes and HFE genotypes in white hemochromatosis and iron overload screening study participants without HFE p.C282Y/p.C282Y.
Barton JC et al.
Plos One, 2022
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
HIF1A: A Putative Modifier of Hemochromatosis.
Pelucchi S et al.
International Journal of Molecular Sciences, 2021
Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.
Secondes ES et al.
Blood Cells, Molecules & Diseases, 2020
Genetic iron overload disorders.
Corradini E et al.
Molecular Aspects of Medicine, 2020
Dysregulated hepcidin response to dietary iron in male mice with reduced Gnpat expression.
Rishi G et al.
Bioscience Reports, 2020
Gnpat does not play an essential role in systemic iron homeostasis in murine model.
An P et al.
Journal of Cellular and Molecular Medicine, 2020
Impact of natural neuromedin-B receptor variants on iron metabolism.
Rametta R et al.
American Journal of Hematology, 2020
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
Akdeniz D et al.
Molecular Genetics & Genomic Medicine, 2019
Genetic Polymorphisms Implicated in Nonalcoholic Liver Disease or Selected Other Disorders Have No Influence on Drug-Induced Liver Injury.
Bonkovsky HL et al.
Hepatology Communications, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Iron loading in HFE p.C282Y homozygotes found by population screening: relationships to HLA-type and T-lymphocyte subsets.
Thorstensen K et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2017
GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.
Barton JC et al.
Blood Cells, Molecules & Diseases, 2017
GNPAT variant is not associated with severe iron overload in Irish C282Y homozygotes.
Ryan E et al.
Hepatology (baltimore, Md.), 2016
Further support for the association of GNPAT variant rs11558492 with severe iron overload in hemochromatosis.
Besson-Fournier C et al.
Hepatology (baltimore, Md.), 2016
GNPAT variant is associated with iron phenotype in healthy Taiwanese women: A population without the HFE C282Y mutation.
Hsiao SC et al.
Hepatology (baltimore, Md.), 2016
GNPAT variant associated with severe iron overload in HFE hemochromatosis.
Bardou-Jacquet E et al.
Hepatology (baltimore, Md.), 2015
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
McLaren CE et al.
Hepatology (baltimore, Md.), 2015
Relationship of Baseline Hemoglobin Level with Serum Ferritin, Postphlebotomy Hemoglobin Changes, and Phlebotomy Requirements among HFE C282Y Homozygotes.
Mousavi SA et al.
Biomed Research International, 2015
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.
Farrell CP et al.
Plos One, 0
GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
Levstik A et al.
Annals of Hepatology, 0