Lista de obras - Paula Faustino - Dominio Público Uruguay

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

artículo científico publicado en 2012

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

artículo científico publicado en 1994

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

artículo científico

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 1998

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Epidemiology of haemoglobin disorders in Europe: an overview.

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 1991

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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado el 1 de diciembre de 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

artículo científico publicado en 2017

Mutational spectrum of delta-globin gene in the Portuguese population

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado el 1 de julio de 1992

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Sickle cell disease severity scoring: a yet unsolved problem

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

artículo científico publicado en 2011

The functional significance of E277K and V295A HFE mutations

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 1996

Lista de obras de Paula Faustino

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

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

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

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

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

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

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

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

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

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

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

Epidemiology of haemoglobin disorders in Europe: an overview.

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

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

Genetic studies suggest a novel Portuguese origin for hemoglobin Porto Alegre

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

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

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

HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis

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

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

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

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

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

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

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

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

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

Mutational spectrum of delta-globin gene in the Portuguese population

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

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

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

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

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

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

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

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

Sickle cell disease severity scoring: a yet unsolved problem

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

The functional significance of E277K and V295A HFE mutations

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

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

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

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

[The molecular basis of dominantly inherited beta-thalassemia]

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