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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 Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 2, p. 185, doi. 10.3390/cells13020185
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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.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 377, doi. 10.1111/cge.14270
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- Publication type:
- 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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- Publication type:
- Article
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 996, doi. 10.1002/jimd.12526
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- Publication type:
- Article
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
- Published in:
- Transfusion, 2021, v. 61, n. 8, p. 2468, doi. 10.1111/trf.16538
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- Publication type:
- Article
Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.
- Published in:
- 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.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1574, doi. 10.1002/acn3.51131
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- Article
A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis.
- Published in:
- British Journal of Haematology, 2020, v. 190, n. 2, p. e104, doi. 10.1111/bjh.16742
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- Publication type:
- Article
TIMP1 intron 3 retention is a marker of colon cancer progression controlled by hnRNPA1.
- Published in:
- Molecular Biology Reports, 2020, v. 47, n. 4, p. 3031, doi. 10.1007/s11033-020-05375-w
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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
First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1856, doi. 10.1002/humu.23821
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- Publication type:
- 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
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, 2018, v. 46, n. 15, p. 7913, doi. 10.1093/nar/gky372
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- Publication type:
- Article
Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.
- Published in:
- American Journal of Hematology, 2017, v. 92, n. 12, p. E664, doi. 10.1002/ajh.24912
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- Publication type:
- 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
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.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 17, p. 4479, doi. 10.1093/hmg/ddu160
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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.
- Published in:
- 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.
- Published in:
- 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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- 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
Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.
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- BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-24
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- Publication type:
- Article
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1913, doi. 10.1093/hmg/ddh206
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- Publication type:
- Article