P. Faustino

发表

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

Philippe Joly, Jan Traeger-Synodinos, Webb Miller, 2011, Nature Genetics.

Sickle cell disease severity scoring: cross-validation between a disease severity score and a paediatric severity score

J. Lavinha, B. Nunes, A. Morais, 2012 .

Mutational spectrum of delta‐globin gene in the Portuguese population

L. Romão, P. Faustino, Armandina Miranda, 2007, European journal of haematology.

Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia.

J. Lavinha, A. Morais, P. Faustino, 2020, Blood cells, molecules & diseases.

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

J. Lavinha, A. Morais, P. Faustino, 2019, Annals of Hematology.

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

J. Lavinha, Â. Inácio, P. Faustino, 2017, Clinical hemorheology and microcirculation.

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

J. Gonçalves, P. Faustino, Catarina Silva, 2016, Blood cells, molecules & diseases.

The Peopling of Sao Tome (Gulf of Guinea): Origins of Slave Settlers and Admixture with the Portuguese

Jorge Rocha, S. Seixas, J. Lavinha, 2002, Human biology.

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

J. Lavinha, L. Romão, Â. Inácio, 2000 .

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

J. Lavinha, L. Romão, P. Faustino, 1998, Blood.

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

H. Rebelo de Andrade, J. Lavinha, B. Nunes, 2017, Immunogenetics.

Differences in the genotype frequencies of genes related to blood pressure regulation - a comparative study between South-West Europe and Peri-equatorial Africa

A. Damasceno, Â. Inácio, P. Faustino, 2021, African health sciences.

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

A. Amorim, L. Gusmão, Patrícia Machado, 2010, Blood cells, molecules & diseases.

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

P. Faustino, M. Correia, A. R. Nunes, 2009, Annals of Hematology.

The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context.

Jian Kong, S. Liebhaber, L. Romão, 2006, RNA.

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

J. Lavinha, L. Romão, Â. Inácio, 2000, Blood.

Alternative Polyadenylation and Nonsense-Mediated Decay Coordinately Regulate the Human HFE mRNA Levels

L. Romão, P. Faustino, Ana Luísa Silva, 2012, PloS one.

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

P. Faustino, C. Baldaia, J. Ferreira, 2014, Biochimica et biophysica acta.

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

B. Nunes, L. Romão, P. Faustino, 2004, Journal of Human Genetics.

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

D. Labie, J. Lavinha, L. Romão, 1992, Human biology.

Genetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with Sickle Cell Anemia

A. P. Arez, M. Brito, P. Faustino, 2022, Molecular Biology Reports.

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

J. Lavinha, P. Faustino, P. Pacheco, 1996, British journal of haematology.

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

J. Lavinha, A. Morais, P. Faustino, 2017, Clinical hemorheology and microcirculation.

The hepcidin gene promoter nc.-1010C > T; −582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene

J. Gonçalves, P. Faustino, S. Gomes, 2014, Annals of Hematology.

VCAM1, HMOX1 and NOS3 differential endothelial expression may impact sickle cell anemia vasculopathy.

P. Faustino, Andreia Coelho, Marisa Silva, 2021, Blood cells, molecules & diseases.

Human α2‐globin nonsense‐mediated mRNA decay induced by a novel α‐thalassaemia frameshift mutation at codon 22

L. Romão, Maria do Céu Silva, A. Ferrão, 2006 .

An African origin for an “American black” β°‐thalassemia mutation?

J. Lavinha, P. Faustino, M. J. Peres, 1994 .

HB Himeji [α2β214O(H18)ALA→ASP] is Linked to Different Haplotypes in Japanese and Portuguese Families

J. Lavinha, P. Faustino, M. Martins, 1991 .

Co-Inheritance of alpha-thalassemia and sickle cell disease in a cohort of Angolan pediatric patients

A. P. Arez, M. Brito, P. Faustino, 2020, Molecular Biology Reports.

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

P. Faustino, Andreia Coelho, I. Picanço, 2010, Blood cells, molecules & diseases.

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

P. Faustino, B. Silva, 2015, Biochimica et biophysica acta.

Epidemiology of haemoglobin disorders in Europe: an overview

Matthew W. Darlison, H. Cario, E. Theodorsson, 2007, Scandinavian journal of clinical and laboratory investigation.

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

J. Lavinha, J. Gonçalves, P. Faustino, 1994, American journal of hematology/oncology.

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

P. Sopp, P. Vyas, Matthew E. Gosden, 2017, Nature Communications.

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

J. Lavinha, L. Romão, J. Gonçalves, 1992, Human Genetics.

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

J. Lavinha, P. Faustino, M. G. Marini, 1996, Blood.

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

J. Lavinha, B. Nunes, A. Morais, 2008, Journal of Human Genetics.

Hb Yaoundé [β134(H12)Val→Ala] in Association with Hb C [β6(A3)Glu→Lys] in a Caucasian Portuguese Family

L. Romão, P. Faustino, Armandina Miranda, 2004 .

COMPOUND HETEROZYGOSITY FOR Hb SPANISH TOWN [α27(B8)Glu→Val], Hb S [β6(A3)Glu→Val] AND THE −α(3.7 kb) THALASSEMIA DELETION

J. Lavinha, L. Romão, A. Ferrão, 2002 .

Nonsense Mutations in Close Proximity to the Initiation Codon Fail to Trigger Full Nonsense-mediated mRNA Decay*

S. Liebhaber, J. Lavinha, L. Romão, 2004, Journal of Biological Chemistry.

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

A. de Mendonça, M. Guerreiro, A. Verdelho, 2015, Biochimica et biophysica acta.

HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis

D. Mendonça, P. Faustino, A. Bettencourt, 2011, European journal of neurology.

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

C. Lopes, P. Faustino, G. Porto, 2016, Cancer Microenvironment.

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

M. Guerreiro, A. Mendonça, A. Verdelho, 2014, Neurobiology of Aging.

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

P. Faustino, R. Victorino, L. Gonçalves, 2017, Journal of investigative medicine high impact case reports.

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

J. Lavinha, B. Nunes, A. Morais, 2014, European journal of haematology.

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

H. Rebelo de Andrade, J. Lavinha, B. Nunes, 2018, Immunogenetics.

The functional significance of E277K and V295A HFE mutations

P. Faustino, B. Silva, R. Fleming, 2012, British journal of haematology.

Differential HFE Gene Expression Is Regulated by Alternative Splicing in Human Tissues

P. Faustino, B. Silva, Rute Martins, 2011, PloS one.

Asymptomatic homozygous deletional β0‐thalassemia in an African individual

J. Lavinha, L. Romão, P. Faustino, 2002 .

Genetic modifiers of the intermediate phenotypes in sickle cell anemia

Â. Inácio, P. Faustino, M. Bicho, 2017 .

Genetic variants in endothelial nitric oxide synthase gene are modifiers of the hemolysis phenotype in Sickle Cell Anemia

J. Lavinha, Â. Inácio, P. Faustino, 2015 .

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

B. Nunes, L. Romão, P. Faustino, 2005, Annals of Hematology.

Interplay between glycemia and the genetics of eNOS and ACE for the susceptibility to the onset and development of hypertension on the Portuguese population

Â. Inácio, P. Faustino, M. Bicho, 2021 .

Hemoglobin Loves Park [β68 (E12) Leu→Phe]: Report of five cases including one originating from a de novo mutation

J. Hoyer, L. Romão, P. Faustino, 2006, American journal of hematology.

Prevalence of anemia in the Portuguese adult population: results from the first National Health Examination Survey (INSEF 2015)

B. Nunes, M. Sousa-Uva, P. Faustino, 2020, Journal of Public Health.

Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal.

P. Faustino, I. Kislaya, M. Barreto, 2023, Acta medica portuguesa.

The geographic pattern of β‐thalassaemia mutations in the Portuguese population

J. Lavinha, P. Faustino, P. Pacheco, 1999, British Journal of Haematology.

Heritability of Anthropometric Phenotypes in Caste Populations of Visakhapatnam, India

Jonathan Scott Friedlaender, R. J. Mitchell, E. Matisoo-Smith, 2002, Human biology.

β‐Thalassaemia unlinked to the β‐globin gene interacts with sickle‐cell trait in a Portuguese family

J. Lavinha, P. Faustino, M. J. Peres, 1995 .

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

P. Sopp, P. Vyas, Matthew E. Gosden, 2017, Nature Communications.

The role of TMPRSS6 gene variants in different types of iron deficiency anaemia - from the rare severe hereditary IRIDA to the common mild acquired IDA

P. Faustino, R. Maia, L. Correia, 2014 .

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

Â. Inácio, P. Faustino, M. Bicho, 2019, Cellular and molecular biology.

Genetic modulators of cerebral vasculopathy in children with sickle cell anemia

J. Lavinha, A. Morais, P. Faustino, 2020 .

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

J. Lavinha, J. Gonçalves, P. Faustino, 2017, Annals of Hematology.

Haemolysis in sickle cell anaemia: a genotype/phenotype association study

J. Lavinha, B. Nunes, A. Morais, 2012 .

Crosstalk between genetics, gene expression and biochemical markers supports systemic iron homeostasis dysregulation in alzheimer disease

M. Guerreiro, A. Mendonça, A. Verdelho, 2014 .

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

P. Faustino, B. Silva, 2015, Biochimica et biophysica acta.

Sickle cell disease severity scoring: a yet unsolved problem

J. Lavinha, B. Nunes, A. Morais, 2012, European journal of haematology.