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João Paulo Oliveira

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Professor Associado

University of Porto

Portugal

Research Interests

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Recent Grants

Grant: Close

Novos preditores de diagnóstico e prognóstico na miocardiopatia de Fabry: prova de conceito numa doença rara

Open Date: 2025-02-20

Close Date: 2026-08-19

Grant: Close

Peroxidasin as a Novel Target in Chronic Kidney Disease Diagnosis and Treatment - PxINk

Open Date: 2022-01-01

Close Date:

Grant: Close

Characterization of invariant Natural Killer T cell phenotype and function in alpha-Galactosidase A deficiency

Open Date: 2022-01-01

Close Date:

Grant: Close

Analysis of Peroxidasin Expression in IgA Nephropathy: Association with Renal Fibrosis and Disease Progression

Open Date: 2020-10-01

Close Date:

Grant: Close

Institute for Research and Innovation in Health Sciences

Open Date: 2019-01-01

Close Date: 2019-12-31

Articles (17)

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2023

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2023

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João Paulo Oliveira

Research Interests

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Recent Grants

Articles (17)

The Importance of Familial Co‐segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease

Clinical and Genetic Epidemiology of Autosomal Dominant Polycystic Kidney Disease among Patients Incident on First Kidney Replacement Therapy between 1990 and 2023, in a Major Hospital in the Northwest of Portugal

Trigenic, Digenic, and Monogenic Alport Kidney Disease in a Single Family: Genotype-Phenotype Correlations in a Multigenerational Family

Peroxidasin expression patterns predict fibrosis and kidney function decline in IgA nephropathy

Validation and performance assessment of a commercial anti-peroxidasin antibody

Horseshoe kidney and polycystic horseshoe kidney: a forensic autopsy-based study in Portugal

Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (GLA) gene

Peroxidasin expression is increased in intratumoural capillaries and in proximal tubular cells adjacent to clear cell renal cell carcinoma.

Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing

GLA insufficiency should not be called Fabry disease

Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy

Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases

The Complexity of Decisions in Genetics: Annotation of Three Novel Variants in the PKD1 and PKD2 Genes

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene

Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report

Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community

Podocytopathy and Glomerular Basement Membrane Anomalies in Two Patients With Cubilin Gene Mutations

Collaborators (5)

Francisco Gonçalves

Luciano Artur Lopes Pereira

Susana Fernandes

Joel Pinto

José Pedro L. Nunes

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João Paulo Oliveira

Research Interests

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Recent Grants

Articles (17)

The Importance of Familial Co‐segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease

Clinical and Genetic Epidemiology of Autosomal Dominant Polycystic Kidney Disease among Patients Incident on First Kidney Replacement Therapy between 1990 and 2023, in a Major Hospital in the Northwest of Portugal

Trigenic, Digenic, and Monogenic Alport Kidney Disease in a Single Family: Genotype-Phenotype Correlations in a Multigenerational Family

Peroxidasin expression patterns predict fibrosis and kidney function decline in IgA nephropathy

Validation and performance assessment of a commercial anti-peroxidasin antibody

Horseshoe kidney and polycystic horseshoe kidney: a forensic autopsy-based study in Portugal

Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G&gt;C intronic variant in the galactosidase alpha (GLA) gene

Peroxidasin expression is increased in intratumoural capillaries and in proximal tubular cells adjacent to clear cell renal cell carcinoma.

Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing

GLA insufficiency should not be called Fabry disease

Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy

Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases

The Complexity of Decisions in Genetics: Annotation of Three Novel Variants in the PKD1 and PKD2 Genes

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene

Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report

Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community

Podocytopathy and Glomerular Basement Membrane Anomalies in Two Patients With Cubilin Gene Mutations

Collaborators (5)

Francisco Gonçalves

Luciano Artur Lopes Pereira

Susana Fernandes

Joel Pinto

José Pedro L. Nunes

Make your next move.

Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (GLA) gene