Associated Papers
Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to C9orf72 Repeat Expansions.
Longobardi A et al.
International Journal of Molecular Sciences, 2024
Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult.
Lipiński P et al.
Acta Biochimica Polonica, 2021
HIF1A: A Putative Modifier of Hemochromatosis.
Pelucchi S et al.
International Journal of Molecular Sciences, 2021
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.
Andolfo I et al.
Haematologica, 2020
DES-Mutation: System for Exploring Links of Mutations and Diseases.
Kordopati V et al.
Scientific Reports, 2018
A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption.
Grahn A et al.
Clinical Biochemistry, 2016
Association between sex, systemic iron variation and probability of Parkinson's disease.
Mariani S et al.
The International Journal of Neuroscience, 2016
Proteogenomic Study beyond Chromosome 9: New Insight into Expressed Variant Proteome and Transcriptome in Human Lung Adenocarcinoma Tissues.
Kim YI et al.
Journal of Proteome Research, 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
Effects of hemochromatosis and transferrin gene mutations on peripheral iron dyshomeostasis in mild cognitive impairment and Alzheimer's and Parkinson's diseases.
Mariani S et al.
Frontiers in Aging Neuroscience, 2013
Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease.
Kauwe JS et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010
Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.
Kauwe JS et al.
Neurogenetics, 2009
Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.
Lee PL et al.
British Journal of Haematology, 2001
Genotyping of TF*Dchi allele in human transferrin polymorphism.
Tsughida S et al.
Legal Medicine (tokyo, Japan), 2000