ArticleHuman genetics2004
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- DCYTB is a predictor of outcome in breast cancer that functions via iron-independent mechanisms.Breast cancer research : BCR · 2017Pooled it
- Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.Journal of hepatology · 2010Pooled it
- Associated Effect ofMetabolites · 2022Article
- Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.Pharmaceuticals (Basel, Switzerland) · 2019Review
- Article
- Ferroportin disease: pathogenesis, diagnosis and treatment.Haematologica · 2017Review
- The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Review
- Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin.Haematologica · 2013Article
- Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination.Cell metabolism · 2012Article
- Evaluation of the 3p21.3 tumour-suppressor gene cluster.Oncogene · 2007Review
- Non-HFE haemochromatosis.World journal of gastroenterology · 2007Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Extensive investigation into the molecular basis of iron overload disorders has provided new insights into the complexity of iron metabolism and related cellular pathways. The possible involvement of genes affecting iron homeostasis, including HFE, SLC40A1, HAMP and CYBRD1, was investigated in individuals who were referred for confirmation or exclusion of a diagnosis of haemochromatosis, but who tested negative or were heterozygous for the causative HFE mutation, C282Y. Denaturing high performance liquid chromatography analysis of these genes revealed a unique spectrum of mutations in the South African study population, including 67 unrelated patients and 70 population-matched controls. Two novel CYBRD1 gene mutations, R226H and IVS1-4C-->G, were identified in 11% of South African Caucasian patient referrals. We identified a novel D270V mutation in the SLC40A1 gene in a Black South African female with iron overload. These mutations were absent in the control population. In Africans with iron overload not related to the HFE gene, the possible involvement of the SLC40A1 and CYBRD1 genes was demonstrated for the first time. This study confirms the genetic heterogeneity of haemochromatosis and highlights the significance of CYBRD1 mutations in relation to iron overload.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.