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List of works by Paula Faustino

Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levels

scientific article

An African origin for an "American black" beta zero-thalassemia mutation?

scientific article

An overview of molecular basis of iron metabolism regulation and the associated pathologies.

scientific article published on 02 April 2015

Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers.

scientific article published on 17 October 2009

Beta-thalassaemia unlinked to the beta-globin gene interacts with sickle-cell trait in a Portuguese family

scientific article published on 01 September 1995

Compound heterozygosity for Hb Spanish town [alpha27(B8)Glu-->Val], Hb S [beta6(A3)Glu-->Val] and the -alpha(3.7kb) thalassemia deletion

scientific article published on 01 May 2002

Decrease in APP and CP mRNA expression supports impairment of iron export in Alzheimer's disease patients.

scientific article published on 22 July 2015

Differential HFE gene expression is regulated by alternative splicing in human tissues

scientific article

Dominantly transmitted beta-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide

scientific article published on 01 January 1998

Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism

scientific article published on 5 April 2008

Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia

scientific article published on 4 September 2017

Epidemiology of haemoglobin disorders in Europe: an overview.

scientific article published on January 2007

Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulation

scientific article

Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia

scientific article published on 02 September 2019

Genetic studies suggest a novel Portuguese origin for hemoglobin Porto Alegre

scientific article published on 01 August 2004

Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study

scientific article published on 28 November 2013

HFE Variants and the Expression of Iron-Related Proteins in Breast Cancer-Associated Lymphocytes and Macrophages

scientific article published on 27 December 2016

HFE gene mutations are extremely rare in Western sub-Saharan Africa

scientific article published on 15 April 2005

HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis

article

Haplotypic heterogeneity of beta-thalassaemia IVS I-1 (G-->A) mutation in southern Portugal.

scientific article published in September 1996

Hb Evora [alpha2-35 (B16), Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype

scientific article published on 01 February 2007

Hb Himeji [alpha 2 beta 2(140)(H18)Ala----Asp] is linked to different haplotypes in Japanese and Portuguese families

scientific article published on 01 January 1991

Hb Yaoundé [beta134(H12)Val-->Ala] in association with Hb C [beta6(A3)Glu-->Lys] in a Caucasian Portuguese family

scientific article published on 01 August 2004

Hemoglobin Loves Park [beta68 (E12) Leu-->Phe]: report of five cases including one originating from a de novo mutation

scientific article published on 01 April 2006

Hemorheological alterations in sickle cell anemia and their clinical consequences - The role of genetic modulators.

scientific article

Importation route of the sickle cell trait into Portugal: contribution of molecular epidemiology

scientific article published on December 1, 1992

Interaction between HFE and haptoglobin polymorphisms and its relation with plasma glutathione levels in obese children

scientific article published on 28 February 2019

Iron Refractory Iron Deficiency Anemia in Dizygotic Twins Due to a Novel TMPRSS6 Gene Mutation in Addition to Polymorphisms Associated With High Susceptibility to Develop Ferropenic Anemia

scientific article

Mutational spectrum of delta-globin gene in the Portuguese population

scientific article published on 04 October 2007

Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population

scientific article published on 22 July 2016

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes

scientific article

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

scientific article published on 25 May 2004

Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation

article

Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment.

scientific article

Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of ?-thalassaemia in the Portuguese population ⬇️

scientific article published on July 1, 1992

Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity

scientific article

Sickle cell anemia - Nitric oxide related genetic modifiers of hematological and biochemical parameters.

scientific article

Sickle cell disease severity scoring: a yet unsolved problem

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

scientific article

The functional significance of E277K and V295A HFE mutations

scientific article published on 25 May 2012

The geographic pattern of beta-thalassaemia mutations in the Portuguese population

article

The role of HFE mutations on iron metabolism in beta-thalassemia carriers

scientific article published on 05 November 2004

The soluble form of HFE protein regulates hephaestin mRNA expression in the duodenum through an endocytosis-dependent mechanism

scientific article published on 27 July 2014

Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia.

scientific article published on 8 September 2017

[The molecular basis of dominantly inherited beta-thalassemia]

scientific article published on 01 July 1999

beta-Thalassemia mutation at -90C-->T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factors

scientific article published on 01 October 1996

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