Maria Paula Duarte Faustino Goncalves

Scopus Publications

Genetic variants in red blood cell adhesion-related genes influence the severity of sickle cell anemia in a malaria-endemic region: Short title: Genetic variants in red blood cell adhesion-related genes in sickle cell anemia
Irina Matos, Brígida Santos, Elisângela Gonçalves, Pedro Lopes, Miguel Brito, Ana Paula Arez, Paula Faustino
Molecular Biology Reports, 2026
Background Sickle cell anemia (SCA) is a genetic disease marked by abnormal hemoglobin S and sickle-shaped red blood cells. It is highly prevalent in sub-Saharan Africa, especially in Angola, where SCA and malaria are major causes of childhood mortality. This study aimed to explore whether genetic variants in genes associated with red blood cell adhesion to the vascular endothelium influence the manifestations of SCA in Angolan pediatric patients in the context of malaria. Methods and results The study enrolled 65 pediatric SCA patients living in Luanda or Caxito. Their clinical, hematological, and biochemical profiles were monitored through longitudinal pediatric follow-up appointments. Fifteen polymorphic sites were genotyped in CD36 and ICAM-1 genes using PCR, Sanger sequencing, and fragment analysis by capillary electrophoresis. Malaria infection was evaluated by detecting Plasmodium species DNA through PCR analysis of blood spot samples. The CD36 variant rs3211891_C is revealed for the first time as a potential modulator of anemia severity in SCA. Additionally, the CD36 variant rs3211938_G, along with the ICAM-1 variants rs5491_T and rs5496_A, significantly impacted the severity of the hematological phenotype in SCA. Furthermore, SCA patients carrying the ICAM-1 rs5494_T variant showed a 5.63-fold increased risk of having malaria infection compared to those with the wild-type genotype. Conclusions This study enhances our understanding of genetic modifiers of red blood cell adhesion to the vascular endothelium and their influence on the severity of pediatric SCA in the context of frequent concomitant malaria infection in Angola.
The Genetics of Iron Metabolism on Biochemical and Hematological Phenotypes of Heart Failure
Mário Barbosa, Laura Aguiar, Ana Matias, Joana Ferreira, João Caldeira, Ana Melício, Paula Faustino, Luiz Menezes Falcão, Manuel Bicho, Ângela Inácio
International Journal of Molecular Sciences, 2026
Heart failure (HF) is frequently associated with iron deficiency and anemia, negatively impacting patient outcomes. This study aimed to investigate the contribution of genetic variation in iron metabolism-related genes to biochemical and hematological phenotypes in HF. An HF population of 182 patients with functional iron deficiency (ID) and anemia was stratified by sex and heart failure subtype, including HF with reduced ejection fraction (HFrEF) and HF with non-reduced ejection fraction (HFnrEF). Genetic variants in HFE (rs1799945), SLC40A1 (rs1439816, rs2304704), and TMPRSS6 (rs855791) were evaluated. Variants in HFE and SLC40A1 were associated with differences in serum iron, ferritin, transferrin saturation, hemoglobin, and RDW. The phenotypic impact of these variants was modulated by sex and heart failure subtype, highlighting the influence of iron availability, inflammatory burden, and erythropoietic demand. In contrast, no significant associations were observed for the TMPRSS6 variant. In conclusion, genetic variation in key regulators of iron metabolism contributes to the heterogeneity of iron-related biochemical and hematological phenotypes in HF. These findings emphasize the interplay between genetic background, sex, and heart failure physiology and support the relevance of personalized approaches to iron assessment and management in heart failure.
Hepatitis C Virus: An Overview of Its Chronic Impact on Liver Function, Metabolic Dysregulation, Inflammatory–Oxidative Pathogenesis and Epigenetic Memory
Joana Ferreira, João Caldeira, Manuel Bicho, Paula Faustino, Fátima Serejo
International Journal of Molecular Sciences, 2026
Hepatitis C virus (HCV) infection is a global health concern, chronically affecting over 71 million people. It primarily targets the liver but also causes systemic complications through inflammation, oxidative stress, and metabolic dysregulation. HCV is a highly variable RNA virus with six major genotypes that are mainly transmitted via blood. Often asymptomatic, the infection progresses silently to chronic hepatitis C (CHC), which can lead to fibrosis, cirrhosis, and hepatocellular carcinoma (HCC). Direct-acting antivirals (DAAs) have revolutionized treatment, achieving cure rates above 95%, improving liver function, reversing fibrosis, and normalizing metabolism. HCV disrupts iron metabolism by suppressing hepcidin, causing iron overload and oxidative stress. It also alters lipid metabolism, inducing steatosis, and affects glucose metabolism, contributing to insulin resistance and type 2 diabetes. DAAs improve these metabolic outcomes. HCV promotes oxidative stress via viral proteins, damaging liver cells and DNA and triggering inflammation and fibrogenesis. Even post-cure, oxidative stress and iron overload may continue to drive disease progression. Genetic and epigenetic factors influence fibrosis progression and HCC risk. Despite a sustained virologic response (SVR), patients with advanced liver damage remain at risk for HCC and metabolic diseases, highlighting the need for continued monitoring and personalized post-treatment care.
Iron Metabolism Genes Shape the Course of Liver Fibrosis in Chronic Hepatitis C: From Disease Progression to Reversal After Direct-Acting Antivirals Treatment
Joana Ferreira, Manuel Bicho, Paula Faustino, Fátima Serejo
Viruses, 2025
Chronic hepatitis C (CHC) is linked to iron overload, which significantly correlates with liver fibrosis. This study aimed to assess whether genetic polymorphisms related to iron metabolism are associated with fibrosis severity, predict improvement in fibrosis after HCV clearance with direct-acting antivirals (DAAs) and influence iron-related metabolic markers before treatment. A total of 329 CHC patients were included, 134 of whom received DAAs therapy. Liver fibrosis was assessed using transient elastography (FibroScan), and biochemical parameters were measured using standard methods. Eighteen genetic polymorphisms within five iron metabolism-related genes were analyzed using PCR-RFLP, endpoint genotyping, or next-generation sequencing (NGS). Before DAA treatment, patients with severe fibrosis showed higher levels of serum iron (Fe), total iron-binding capacity (TIBC), and ferritin (Ft). SLC40A1 rs1439816_GG was associated with an increased risk of severe fibrosis compared with GC or CC genotypes. SLC40A1 rs11568351_GC genotype was linked to a higher likelihood of remaining cirrhotic after HCV clearance. Elevated iron parameters were observed in carriers HFE C282Y_CY, TF IVS 11 G>A, and BMP2 570 A>T. Overall, polymorphisms in iron metabolism genes may influence both the severity of liver fibrosis prior to treatment, its regression after DAA therapy and the regulation of iron metabolism in CHC patients.
Ancestry of the major long-range regulatory site of the α-globin genes in the Portuguese population with the common 3.7 kb α-thalassemia deletion
Rita Pena, Pedro Lopes, Gisela Gaspar, Armandina Miranda, Paula Faustino
Molecular Biology Reports, 2024
Background The α-Major Regulatory Element (α-MRE), also known as HS-40, is located upstream of the α-globin gene cluster and has a crucial role in the long-range regulation of the α-globin gene expression. This enhancer is polymorphic and several haplotypes were identified in different populations, with haplotype D almost exclusively found in African populations. The purpose of this research was to identify the HS-40 haplotype associated with the 3.7 kb α-thalassemia deletion (-α3.7del) in the Portuguese population, and determine its ancestry and influence on patients’ hematological phenotype. Methods and results We selected 111 Portuguese individuals previously analyzed by Gap-PCR to detect the presence of the -α3.7del: 50 without the -α3.7del, 34 heterozygous and 27 homozygous for the -α3.7del. The HS-40 region was amplified by PCR followed by Sanger sequencing. Four HS-40 haplotypes were found (A to D). The distribution of HS-40 haplotypes and genotypes are significantly different between individuals with and without the -α3.7del, being haplotype D and genotype AD the most prevalent in patients with this deletion in homozygosity. Furthermore, multiple correspondence analysis revealed that individuals without the -α3.7del are grouped with other European populations, while samples with the -α3.7del are separated from these and found more closely related to the African population. Conclusion This study revealed for the first time an association of the HS-40 haplotype D with the -α3.7del in the Portuguese population, and its likely African ancestry. These results may have clinical importance as in vitro analysis of haplotype D showed a decrease in its enhancer activity on α-globin gene.
Characterization of a cohort of Angolan children with sickle cell anemia treated with hydroxyurea
Brígida Santos, Catarina Ginete, Elisângela Gonçalves, Mariana Delgadinho, Armandina Miranda, Paula Faustino, Ana Paula Arez, Miguel Brito
Blood Cells Molecules and Diseases, 2024
BACKGROUND: Sickle Cell Anemia (SCA) is a monogenic disease, although its severity and response to treatment are very heterogeneous. OBJECTIVES: This study aims to characterize a cohort of Angolan children with SCA and evaluate their response to hydroxyurea (HU) treatment and the potential side effects and toxicity. METHODS: The study enrolled 215 patients between 3 and 12 years old before and after the administration of HU, at a fix dose of 20 mg/kg/day for 12 months. RESULTS: A total of 157 patients started HU medication and 141 of them completed the 12-month treatment. After initiating HU treatment, the frequency of clinical events decreased (transfusions 53.4 %, hospitalizations 47.1 %). The response to HU medication varied among patients, with some experiencing an increase in fetal hemoglobin (HbF) of <5 %. The mean increase in HbF was 11.9 %, ranging from 1.8 % to 31 %. Responders to HU treatment were 57 %, inadequate responders 38.7 % and non-adherent 4.2 %. No clinical side effects related to HU were reported. Hematological toxicities were transient and reversible. Children naïve to HU and with lower HbF reported higher number of hospitalizations caused by malaria infection. During HU treatment, the frequency of malaria episodes did not appear to be affected by HbF levels. CONCLUSIONS: the present study provided a valuable contribution to the understanding of the clinical and laboratory profiles of Angolan children with SCA. These findings support the evidence that the implementation of prophylactic measures and treatment with HU is associated with increased survival in children with SCA.
From Stress to Sick(le) and Back Again–Oxidative/Antioxidant Mechanisms, Genetic Modulation, and Cerebrovascular Disease in Children with Sickle Cell Anemia
Marisa Silva, Paula Faustino
Antioxidants, 2023
Sickle cell anemia (SCA) is a genetic disease caused by the homozygosity of the HBB:c.20A>T mutation, which results in the production of hemoglobin S (HbS). In hypoxic conditions, HbS suffers autoxidation and polymerizes inside red blood cells, altering their morphology into a sickle shape, with increased rigidity and fragility. This triggers complex pathophysiological mechanisms, including inflammation, cell adhesion, oxidative stress, and vaso-occlusion, along with metabolic alterations and endocrine complications. SCA is phenotypically heterogeneous due to the modulation of both environmental and genetic factors. Pediatric cerebrovascular disease (CVD), namely ischemic stroke and silent cerebral infarctions, is one of the most impactful manifestations. In this review, we highlight the role of oxidative stress in the pathophysiology of pediatric CVD. Since oxidative stress is an interdependent mechanism in vasculopathy, occurring alongside (or as result of) endothelial dysfunction, cell adhesion, inflammation, chronic hemolysis, ischemia-reperfusion injury, and vaso-occlusion, a brief overview of the main mechanisms involved is included. Moreover, the genetic modulation of CVD in SCA is discussed. The knowledge of the intricate network of altered mechanisms in SCA, and how it is affected by different genetic factors, is fundamental for the identification of potential therapeutic targets, drug development, and patient-specific treatment alternatives.
Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal
Daniela Santos, Marta Barreto, Irina Kislaya, Joana Mendonça, Miguel P. Machado, Pedro Lopes, Carlos Matias Dias, Paula Faustino
Acta Medica Portuguesa, 2023
Introduction: Microcytosis and hypochromia result from deficient hemoglobin synthesis in red blood cells and are easily detected in a complete blood count test. These conditions are mainly due to iron nutritional deficiency, but may also result from some genetic diseases, such as thalassemia. The aim of this study was to determine the contribution of β- and α-thalassemia to these abnormal hematological phenotypes in a representative sample of adult individuals living in Portugal who participated in the first Portuguese National Health Examination Survey (INSEF).Methods: Among the 4808 INSEF participants, 204 had microcytosis, hypochromia or both. The corresponding 204 DNAs were screened for changes in the β-globin gene by next-generation sequencing and Sanger sequencing. In addition, α-thalassemia deletions within the α-globin cluster were investigated by Gap-PCR and multiplex ligation-dependent probe amplification.Results: In this selected subgroup of INSEF participants, 54 had α-thalassemia (26%), predominantly caused by the -α3.7kb deletion, and 22 were β-thalassemia carriers (11%) mainly due to point mutations in the β-globin gene previously known in Portugal.Conclusion: Thalassemia trait is a frequent cause of microcytosis or hypochromia in Portugal since this genetic condition was found in 37% of the investigated cases.
Genetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with Sickle Cell Anemia
Isabel Germano, Brígida Santos, Mariana Delgadinho, Catarina Ginete, Pedro Lopes, Ana Paula Arez, Miguel Brito, Paula Faustino
Molecular Biology Reports, 2022
Prevalence of anemia in the Portuguese adult population: results from the first National Health Examination Survey (INSEF 2015)
C. Samões, I. Kislaya, M. Sousa-Uva, V. Gaio, P. Faustino, B. Nunes, C. Matias-Dias, M. Barreto
Journal of Public Health Germany, 2022
Anemia is a global public health problem with relevant adverse health, social and economic consequences. The objective of this study was to analyze the distribution of the prevalence of anemia in the Portuguese population. This is a cross-sectional population-based study, based on the first Portuguese National Health Examination Survey (INSEF), which included 4812 participants aged 25 to 74 years, with data on hemoglobin levels and self-reported diagnosis of anemia. The socioeconomic status of participants was assessed by education level, employment status and material deprivation. The association between socioeconomic factors and anemia was estimated by adjusted prevalence ratios. The prevalence of anemia overall was 5.8%, 3.1% in men and 8.4% in women. The overall prevalence of moderate–severe anemia was 1.1%. Previously undiagnosed cases represented 92.5%. In men, anemia was associated with age, education, occupation and material deprivation, and in women, with age group and urban typology. Anemia represents a relevant public health issue in Portugal. In women, it is more prevalent among those of childbearing age and older, and in men among older individuals of low socioeconomic status. This information is relevant for developing targeted strategies aimed at the prevention, diagnosis and treatment of anemia.
VCAM1, HMOX1 and NOS3 differential endothelial expression may impact sickle cell anemia vasculopathy
Marisa Silva, Andreia Coelho, Sofia Vargas, Paula Faustino
Blood Cells Molecules and Diseases, 2022
Comparative Evaluation of Classification Indexes and Outlier Detection of Microcytic Anaemias in a Portuguese Sample
Beatriz N. Leitão, Paula Faustino, Susana Vinga
Lecture Notes in Computer Science Including Subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics, 2022
Interplay between glycemia and the genetics of eNOS and ACE for the susceptibility to the onset and development of hypertension on the Portuguese population
Laura Aguiar, Joana Ferreira, Andreia Matos, Mário Rui Mascarenhas, Luiz Menezes Falcão, Paula Faustino, Manuel Bicho, Ângela Inácio
Gene Reports, 2021
Differences in the genotype frequencies of genes related to blood pressure regulation-a comparative study between South-West Europe and Peri-equatorial Africa
Laura Aguiar, Ildegário Semente, Joana Ferreira, Andreia Carvalho, Alda P Silva, Cristina Caroça, Helena Caria, Albertino Damasceno, Maria J Laires, Luís Sardinha, Cristina Monteiro, Mário R Mascarenhas, Paula Faustino, Ângela Inácio, Manuel Bicho
African Health Sciences, 2021
Co-Inheritance of alpha-thalassemia and sickle cell disease in a cohort of Angolan pediatric patients
Brígida Santos, Mariana Delgadinho, Joana Ferreira, Isabel Germano, Armandina Miranda, Ana Paula Arez, Paula Faustino, Miguel Brito
Molecular Biology Reports, 2020
Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia
Marisa Silva, Sofia Vargas, Andreia Coelho, Emanuel Ferreira, Joana Mendonça, Luís Vieira, Raquel Maia, Alexandra Dias, Teresa Ferreira, Anabela Morais, Isabel Mota Soares, João Lavinha, Rita Silva, Paula Kjöllerström, Paula Faustino
Blood Cells Molecules and Diseases, 2020
Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia
Marta Nicolau, Sofia Vargas, Marisa Silva, Andreia Coelho, Emanuel Ferreira, Joana Mendonça, Luís Vieira, Paula Kjöllerström, Raquel Maia, Rita Silva, Alexandra Dias, Teresa Ferreira, Anabela Morais, Isabel Mota Soares, João Lavinha, Paula Faustino
Annals of Hematology, 2019
Interaction between HFE and haptoglobin polymorphisms and its relation with plasma glutathione levels in obese children
Laura Aguiar, Cláudia Marinho, Rute Martins, Irina Alho, Joana Ferreira, Pilar Levy, Paula Faustino, Manuel Bicho, Angela Inacio
Cellular and Molecular Biology, 2019
Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity
Susana David, Vanessa Correia, Liliana Antunes, Ricardo Faria, José Ferrão, Paula Faustino, Baltazar Nunes, Fernando Maltez, João Lavinha, Helena Rebelo de Andrade
Immunogenetics, 2018
Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-Thalassemia
Sachith Mettananda, Chris A. Fisher, Deborah Hay, Mohsin Badat, Lynn Quek, Kevin Clark, Philip Hublitz, Damien Downes, Jon Kerry, Matthew Gosden, Jelena Telenius, Jackie A. Sloane-Stanley, Paula Faustino, Andreia Coelho, Jessica Doondeea, Batchimeg Usukhbayar, Paul Sopp, Jacqueline A. Sharpe, Jim R. Hughes, Paresh Vyas, Richard J. Gibbons, Douglas R. Higgs
Nature Communications, 2017
Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia
José Ferrão, Marisa Silva, Lúcia Gonçalves, Susana Gomes, Pedro Loureiro, Andreia Coelho, Armandina Miranda, Filomena Seuanes, Ana Batalha Reis, Francisca Pina, Raquel Maia, Paula Kjöllerström, Estela Monteiro, João F. Lacerda, João Lavinha, João Gonçalves, Paula Faustino
Annals of Hematology, 2017
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
Joana Pinto, Gustavo Nobre de Jesus, Mónica Palma Anselmo, Lúcia Gonçalves, Daniela Brás, João Madeira Lopes, João Meneses, Rui Victorino, Paula Faustino
Journal of Investigative Medicine High Impact Case Reports, 2017
HFE Variants and the Expression of Iron-Related Proteins in Breast Cancer-Associated Lymphocytes and Macrophages
Oriana Marques, Ana Rosa, Luciana Leite, Paula Faustino, Alexandra Rêma, Berta Martins da Silva, Graça Porto, Carlos Lopes
Cancer Microenvironment, 2016
Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population
Ricardo Faria, Bruno Silva, Catarina Silva, Pedro Loureiro, Ana Queiroz, Sofia Fraga, Jorge Esteves, Diana Mendes, Rita Fleming, Luís Vieira, João Gonçalves, Paula Faustino
Blood Cells Molecules and Diseases, 2016
Hemorheological alterations in sickle cell anemia and their clinical consequences - The role of genetic modulators
Marisa Silva, Sofia Vargas, Andreia Coelho, Alexandra Dias, Teresa Ferreira, Anabela Morais, Raquel Maia, Paula Kjöllerström, João Lavinha, Paula Faustino
Clinical Hemorheology and Microcirculation, 2016
Sickle cell anemia - Nitric oxide related genetic modifiers of hematological and biochemical parameters
Laura Aguiar, Andreia Matos, Ângela Gil, Conceição Afonso, Salomé Almeida, Lígia Braga, João Lavinha, Paula Kjollerstrom, Paula Faustino, Manuel Bicho, Ângela Inácio
Clinical Hemorheology and Microcirculation, 2016
Decrease in APP and CP mRNA expression supports impairment of iron export in Alzheimer's disease patients
Cláudia Guerreiro, Bruno Silva, Ângela C. Crespo, Liliana Marques, Sónia Costa, Ângela Timóteo, Erica Marcelino, Carolina Maruta, Arminda Vilares, Mafalda Matos, Frederico Simões Couto, Paula Faustino, Ana Verdelho, Manuela Guerreiro, Ana Herrero, Cristina Costa, Alexandre de Mendonça, Madalena Martins, Luciana Costa
Biochimica Et Biophysica Acta Molecular Basis of Disease, 2015
An overview of molecular basis of iron metabolism regulation and the associated pathologies
Bruno Silva, Paula Faustino
Biochimica Et Biophysica Acta Molecular Basis of Disease, 2015
The hepcidin gene promoter nc.-1010C > T; −582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene
Bruno Silva, Lina Pita, Susana Gomes, João Gonçalves, Paula Faustino
Annals of Hematology, 2014
The soluble form of HFE protein regulates hephaestin mRNA expression in the duodenum through an endocytosis-dependent mechanism
Bruno Silva, Joana Ferreira, Vera Santos, Cilénia Baldaia, Fátima Serejo, Paula Faustino
Biochimica Et Biophysica Acta Molecular Basis of Disease, 2014
Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: A longitudinal study
Andreia Coelho, Alexandra Dias, Anabela Morais, Baltazar Nunes, Emanuel Ferreira, Isabel Picanço, Paula Faustino, João Lavinha
European Journal of Haematology, 2014
Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulation
Ângela C. Crespo, Bruno Silva, Liliana Marques, Erica Marcelino, Carolina Maruta, Sónia Costa, Ângela Timóteo, Arminda Vilares, Frederico Simões Couto, Paula Faustino, Ana Paula Correia, Ana Verdelho, Graça Porto, Manuela Guerreiro, Ana Herrero, Cristina Costa, Alexandre de Mendonça, Luciana Costa, Madalena Martins
Neurobiology of Aging, 2014
Sickle cell disease severity scoring: A yet unsolved problem
Andreia Coelho, Alexandra Dias, Anabela Morais, Baltazar Nunes, Paula Faustino, João Lavinha
European Journal of Haematology, 2012
The functional significance of E277K and V295A HFE mutations
Bruno Silva, Rute Martins, Daniela Proença, Rita Fleming, Paula Faustino
British Journal of Haematology, 2012
Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levels
Rute Martins, Daniela Proença, Bruno Silva, Cristina Barbosa, Ana Luísa Silva, Paula Faustino, Luísa Romão
Plos One, 2012
Differential HFE gene expression is regulated by alternative splicing in human tissues
Rute Martins, Bruno Silva, Daniela Proença, Paula Faustino
Plos One, 2011
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
Belinda Giardine, Joseph Borg, Douglas R Higgs, Kenneth R Peterson, Sjaak Philipsen, Donna Maglott, Belinda K Singleton, David J Anstee, A Nazli Basak, Barnaby Clark, Flavia C Costa, Paula Faustino, Halyna Fedosyuk, Alex E Felice, Alain Francina, Renzo Galanello, Monica V E Gallivan, Marianthi Georgitsi, Richard J Gibbons, Piero C Giordano, Cornelis L Harteveld, James D Hoyer, Martin Jarvis, Philippe Joly, Emmanuel Kanavakis, Panagoula Kollia, Stephan Menzel, Webb Miller, Kamran Moradkhani, John Old, Adamantia Papachatzopoulou, Manoussos N Papadakis, Petros Papadopoulos, Sonja Pavlovic, Lucia Perseu, Milena Radmilovic, Cathy Riemer, Stefania Satta, Iris Schrijver, Maja Stojiljkovic, Swee Lay Thein, Jan Traeger-Synodinos, Ray Tully, Takahito Wada, John S Waye, Claudia Wiemann, Branka Zukic, David H K Chui, Henri Wajcman, Ross C Hardison, George P Patrinos
Nature Genetics, 2011
HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis
A. Bettencourt, A. M. Silva, E. Santos, S. Gomes, D. Mendonça, P. P. Costa, P. Faustino, B. M. Silva
European Journal of Neurology, 2011
Novel large deletions in the human α-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment
Andreia Coelho, Isabel Picanço, Filomena Seuanes, Maria Teresa Seixas, Paula Faustino
Blood Cells Molecules and Diseases, 2010
Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers
Joana Alves, Patrícia Machado, João Silva, Nilza Gonçalves, Letícia Ribeiro, Paula Faustino, Virgílio Estólio do Rosário, Licínio Manco, Leonor Gusmão, António Amorim, Ana Paula Arez
Blood Cells Molecules and Diseases, 2010
Non-classical hereditary hemochromatosis in Portugal: Novel mutations identified in iron metabolism-related genes
Ana Isabel Mendes, Ana Ferro, Rute Martins, Isabel Picanço, Susana Gomes, Rute Cerqueira, Manuel Correia, António Robalo Nunes, Jorge Esteves, Rita Fleming, Paula Faustino
Annals of Hematology, 2009
Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism
Rute Martins, Anabela Morais, Alexandra Dias, Isabel Soares, Cristiana Rolão, J. L. Ducla-Soares, Lígia Braga, Teresa Seixas, Baltazar Nunes, Gabriel Olim, Luísa Romão, João Lavinha, Paula Faustino
Journal of Human Genetics, 2008
Mutational spectrum of delta-globin gene in the Portuguese population
Ana Morgado, Isabel Picanço, Susana Gomes, Armandina Miranda, Margarida Coucelo, Filomena Seuanes, Maria Teresa Seixas, Luísa Romão, Paula Faustino
European Journal of Haematology, 2007
Hb Évora [α2-35 (B16), Ser→Pro], a novel hemoglobin variant associated with an α-thalassemia phenotype
S. Gomes, I. Picanco, A. Miranda, M. T. Seixas, M. Oliveira, L. Romao, P. Faustino
Haematologica, 2007
Epidemiology of haemoglobin disorders in Europe: An overview
B. Modell, M. Darlison, H. Birgens, H. Cario, P. Faustino, P. C. Giordano, B. Gulbis, P. Hopmeier, D. Lena‐Russo, L. Romao, E. Theodorsson
Scandinavian Journal of Clinical and Laboratory Investigation, 2007
The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context
Ana Luísa Silva, Francisco J.C. Pereira, Ana Morgado, Jian Kong, Rute Martins, Paula Faustino, Stephen A. Liebhaber, Luísa Romão
RNA, 2006
Human α2-globin nonsense-mediated mRNA decay induced by a novel α-thalassaemia frameshift mutation at codon 22
Francisco J. C. Pereira, Maria do Céu Silva, Isabel Picanço, Maria T. Seixas, Anabela Ferrão, Paula Faustino, Luísa Romão
British Journal of Haematology, 2006
Hemoglobin Loves Park [β68 (E12) Leu→Phe]: Report of five cases including one originating from a de novo mutation
Cristina Ferreira, James D. Hoyer, Armandina Miranda, Isabel Picanço, Vanda Almendra, Maria Teresa Seixas, Teresa Almeida, Luísa Romão, Paula Faustino
American Journal of Hematology, 2006
HFE gene mutations are extremely rare in Western sub-Saharan Africa [1]
Rute Martins, Isabel Picanço, Baltazar Nunes, Luísa Romão, Paula Faustino
Annals of Hematology, 2005
The role of HFE mutations on iron metabolism in beta-thalassemia carriers
Rute Martins, Isabel Picanço, Aidil Fonseca, Lídia Ferreira, Odete Rodrigues, Marília Coelho, Teresa Seixas, Armandina Miranda, Baltazar Nunes, Luciana Costa, Luísa Romão, Paula Faustino
Journal of Human Genetics, 2004
Hb Yaoundé [β134(H12)Val→Ala] in association with Hb C [β6(A3)Glu→Lys] in a Caucasian Portuguese family
Paula Faustino, Armandina Miranda, Maria do Céu Silva, Cristina Alves, Isabel Picanço, Cristina Ferreira, Maria Teresa Seixas, Francisca Pina, Luísa Romão
Hemoglobin, 2004
Genetic studies suggest a novel Portuguese origin for hemoglobin Porto Alegre
Haematologica, 2004
Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay
Ângela Inácio, Ana Luísa Silva, Joana Pinto, Xinjun Ji, Ana Morgado, Fátima Almeida, Paula Faustino, João Lavinha, Stephen A. Liebhaber, Luísa Romão
Journal of Biological Chemistry, 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
Paula Faustino, Isabel Picanço, Armandina Miranda, Teresa Seixas, Anabela Ferrão, Anabela Morais, João Lavinha, Luísa Romão
Hemoglobin, 2002
Asymptomatic homozygous deletional β0-thalassemia in an African individual
Paula Faustino, Ana Batalha Reis, Helena Feliciano, Lénia Ferrão, Patrícia Pereira, Isabel Picanço, Armandina Miranda, Teresa Seixas, Luísa Romão, Esmeraldina Correia Júnior, João Lavinha
American Journal of Hematology, 2002
The peopling of São Tomé (Gulf of Guinea): Origins of slave settlers and admixture with the Portuguese
Gil Tomas, Luisa Seco, Susana Seixas, Paula Faustino, Joao Lavinha, Jorge Rocha
Human Biology, 2002
Nonsense mutations in human β-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation
Luı́sa Romão, Ângela Inácio, Susana Santos, Madalena Ávila, Paula Faustino, Paula Pacheco, João Lavinha
Blood, 2000
The geographic pattern of β-thalassaemia mutations in the Portuguese population
Paula Faustino, Paula Pacheco, Pedro Loureiro, Paulo J. Nogueira, João Lavinha
British Journal of Haematology, 1999
The molecular basis of dominantly inherited beta-thalassemia
Acta Medica Portuguesa, 1999
Dominantly transmitted β-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide
Paula Faustino, Leonor Osório-Almeida, Luı́sa Romão, José Barbot, Berta Fernandes, Benvindo Justiça, João Lavinha
Blood, 1998
Evaluation of cost/benefit of prenatal diagnosis
Acta Medica Portuguesa, 1997
Haplotypic heterogeneity of β-thalassaemia IVS I-1 (G→A) mutation in Southern Portugal [1]
British Journal of Haematology, 1996
ß-Thalassemia mutation at -90c ? T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factors [6]
P Faustino, J Lavinha, MG Marini, P Moi
Blood, 1996
β‐Thalassaemia unlinked to the β‐globin gene interacts with sickle‐cell trait in a Portuguese family
P. Pacheco, M. J. Peres, P. Faustino, C. Pischedda, J. Gonclalves, M. Carvajales‐Ramos, T. Seixas, M. C. Martins, P. Moi, J. Lavinha
British Journal of Haematology, 1995
An African origin for an “American black” β°‐thalassemia mutation?
Joāo Goņalves, Paula Faustino, Joāo Lavinha, Lino Rosado, Maria Joio Peres, Maria Do Carmo Martins
American Journal of Hematology, 1994
Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population
Paula Faustino, Leonor Os�rio-Almeida, Jos� Barbot, Deonilde Esp�rito-Santo, Jo�o Gon�alves, Lu�sa Rom�o, M.Carmo Martins, M.Maia Marques, Jo�o Lavinha
Human Genetics, 1992
Importation route of the sickle cell trait into Portugal: contribution of molecular epidemiology.
Human Biology an International Record of Research, 1992
HB Himeji [α2β214o(h18)ALA→ASP] is linked to different haplotypes in japanese and portuguese families
J. Lavinha, P. Faustino, L. Osório-almeida, Y. Hattori, Y. Ohba, M. C. Martins
Hemoglobin, 1991

Maria Paula Duarte Faustino Goncalves

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