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Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease.
- Published in:
- FASEB Journal, 2024, v. 38, n. 13, p. 1, doi. 10.1096/fj.202400337R
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- Publication type:
- Article
The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/5162256
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- Publication type:
- Article
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
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- Clinical Genetics, 2023, v. 103, n. 3, p. 377, doi. 10.1111/cge.14270
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- Article
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2308, doi. 10.1002/humu.24491
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- Article
Prevalence of HFE‐related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated by venesection.
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- Alimentary Pharmacology & Therapeutics, 2022, v. 55, n. 8, p. 1016, doi. 10.1111/apt.16775
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- Article
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
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- Transfusion, 2021, v. 61, n. 8, p. 2468, doi. 10.1111/trf.16538
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- Article
Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6412, doi. 10.3390/ijms22126412
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- Article
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1574, doi. 10.1002/acn3.51131
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- Article
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 3, p. 1600, doi. 10.1093/nar/gkz1212
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- Article
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
- Published in:
- BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-6484-5
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- Article
Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.
- Published in:
- FASEB Journal, 2019, v. 33, n. 12, p. 14625, doi. 10.1096/fj.201901857R
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- Publication type:
- Article
Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1681, doi. 10.1002/acn3.50861
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- Article
Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.
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- 2019
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- Publication type:
- journal article
Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 6, p. 2564, doi. 10.1093/nar/gkv1300
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- Publication type:
- Article
Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer.
- Published in:
- 2016
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- Publication type:
- journal article
A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.
- Published in:
- British Journal of Haematology, 2016, v. 172, n. 3, p. 475, doi. 10.1111/bjh.13511
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- Article
Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.
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- Transfusion, 2015, v. 55, n. 6pt2, p. 1432, doi. 10.1111/trf.13083
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- Publication type:
- Article
Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis.
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- British Journal of Haematology, 2015, v. 168, n. 5, p. 759, doi. 10.1111/bjh.13145
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- Publication type:
- Article
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
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- Human Molecular Genetics, 2014, v. 23, n. 17, p. 4479, doi. 10.1093/hmg/ddu160
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- Publication type:
- Article
A Gene Expression and Pre-mRNA Splicing Signature That Marks the Adenoma-Adenocarcinoma Progression in Colorectal Cancer.
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- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0087761
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- Publication type:
- Article
Evidence for the High Importance of Co-Morbid Factors in <i>HFE</i> C282Y/H63D Patients Cared by Phlebotomies: Results from an Observational Prospective Study.
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- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081128
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- Publication type:
- Article
Structure-Function Analysis of the Human Ferroportin Iron Exporter ( SLC40 A1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1371, doi. 10.1002/humu.22369
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- Publication type:
- Article
Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles.
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- Transfusion, 2013, v. 53, n. 8, p. 1821, doi. 10.1111/trf.12009
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- Publication type:
- Article
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.
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- British Journal of Haematology, 2009, v. 147, n. 3, p. 379, doi. 10.1111/j.1365-2141.2009.07834.x
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- Publication type:
- Article
HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype.
- Published in:
- Advances in Hematology, 2009, v. 2009, p. 1, doi. 10.1155/2009/251701
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- Article
The molecular genetics of haemochromatosis.
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- European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1172, doi. 10.1038/sj.ejhg.5201490
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- Publication type:
- Article
The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 467, doi. 10.1007/s00439-005-1307-y
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- Publication type:
- Article
Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation.
- Published in:
- FASEB Journal, 2004, v. 18, n. 15, p. 1922, doi. 10.1096/fj.04-2520fje
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- Article
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1913, doi. 10.1093/hmg/ddh206
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- Publication type:
- Article
Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay–Lac-Saint-Jean (Quebec, Canada).
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- British Journal of Haematology, 2000, v. 108, n. 4, p. 854, doi. 10.1046/j.1365-2141.2000.01954.x
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- Article