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Role of ancillary techniques in the differential diagnosis of salivary gland ca...

Paiva Correia, Antonio; Hellquist, Henrik; Apolónio, Joana; Castelo-Branco, Pedro

Paiva-Correia A, Hellquist H, Apolónio J, Castelo-Branco P. Role of ancillary techniques in the differential diagnosis of salivary gland carcinomas. The diagnosis of salivary gland carcinomas (SGC) rests mainly on histology, but immunohistochemical and molecular investigations are often necessary for differential diagnosis. This review is primarily aimed as a tool for pathologists in non-specialised head and ne...


Establishment of an induced pluripotent cell line (ABCRIi001-A) from an elderly...

Esteves, Filipa; Vilhena Catarino Brito, David; Rajado, Ana Teresa; Silva, Nádia; Apolónio, Joana; Roberto, Vânia; Andrade, Raquel; Calado, Sofia

Human induced pluripotent stem cells (hiPSCs) hold promises to model and understand human diseases, including those associated with ageing. Here, we describe ABCRIi001-A, a hiPSC line generated from peripheral blood mononuclear cells (PBMCs) of a 79-year-old female enrolled in a study for development of an ageing score (ALFA Score). PBMCs were reprogrammed using three Sendai virus-based reprogramming vectors (h...


Epigenetic alterations in urothelial bladder cancer associated with disease out...

Martins Nunes, Francisca; Apolónio, Joana; Mota-Pinto, A; Leão, Ricardo

Objectives: Bladder cancer (BLCA) is a molecular heterogeneous disease with known genetic distinctive signatures. However, DNA methylation is highly prevalent across a wide range of tumors, suggesting its potential in oncogenesis. Here, we aimed to interrogate the role of nine epigenetic alterations as diagnostic and prognostic markers in BLCA.Methods: DNA methylation, gene expression, and clinicopathological i...


Measuring healthy ageing: current and future tools

Silva, Nádia; Rajado, Ana Teresa; Esteves, Filipa; Brito, David V.C.; Apolónio, Joana; Roberto, Vânia; Binnie, Alexandra; Araújo, Inês Maria

Human ageing is a complex, multifactorial process characterised by physiological damage, increased risk of age-related diseases and inevitable functional deterioration. As the population of the world grows older, placing significant strain on social and healthcare resources, there is a growing need to identify reliable and easy-to-employ markers of healthy ageing for early detection of ageing trajectories and d...


Reprogramming iPSCs to study age-related diseases: models, therapeutics, and cl...

Esteves, Filipa; Brito, David; Rajado, Ana Teresa; Silva, Nádia; Apolónio, Joana; Roberto, Vania Palma; Araújo, Inês Maria; Nóbrega, Clévio

The unprecedented rise in life expectancy observed in the last decades is leading to a global increase in the ageing population, and age-associated diseases became an increasing societal, economic, and medical burden. This has boosted major efforts in the scientific and medical research communities to develop and improve therapies to delay ageing and age-associated functional decline and diseases, and to expand...


Post-transcriptional silencing of Bos taurus prion family genes and its impact ...

Pimenta, Jorge M.; Pires, Virgínia M.; Nolasco, Sofia; Castelo-Branco, Pedro; Marques, Carla C.; Apolónio, Joana; Azevedo, Rita; Fernandes, Mónica T.

Prion proteins constitute a major public health concern, which has partly overshadowed their physiological roles in several scenarios. Indeed, these proteins were implicated in male fertility but their role in female fertility is relatively less explored. This study was designed to evaluate the role of SPRN and PRNP prion family genes in bovine follicular steroidogenesis pathways. Post-transcriptional SPRN and ...


THOR is a targetable epigenetic biomarker with clinical implications in breast ...

Apolónio, Joana; Dias, João S.; Fernandes, Mónica T.; Komosa, Martin; Lipman, Tatiana; Zhang, Cindy H.; Leão, Ricardo; Lee, Donghyun; Nunes, Nuno M.

Breast cancer (BC) is the most frequently diagnosed cancer and a leading cause of death among women worldwide. Early BC is potentially curable, but the mortality rates still observed among BC patients demon‑ strate the urgent need of novel and more efective diagnostic and therapeutic options. Limitless self-renewal is a hallmark of cancer, governed by telomere maintenance. In around 95% of BC cases, this proces...


Post-transcriptional silencing of Bos taurus prion family genes and its impact ...

Pimenta, Jorge M.B.G.A.; Pires, Virgínia M.R.; Nolasco, Sofia; Castelo-Branco, Pedro; Marques, Carla C.; Apolónio, Joana; Azevedo, Rita

Prion proteins constitute a major public health concern, which has partly overshadowed their physiological roles in several scenarios. Indeed, these proteins were implicated in male fertility but their role in female fertility is relatively less explored. This study was designed to evaluate the role of SPRN and PRNP prion family genes in bovine follicular steroidogenesis pathways. Post-transcriptional SPRN and ...


Tert hypermethylated oncologic region (THOR) as a biomarker for breast cancer

Apolónio, Joana

Breast cancer (BC) is the most frequently diagnosed cancer and a leading cause of death among women worldwide. Early BC is potentially curable, nevertheless, the mortality rates still observed among BC patients, demonstrates the urgent need of novel and more effective diagnostic and therapeutic options. Limitless self-renewal is a hallmark of cancer governed by telomere maintenance. In around 95% of BC cases, t...


Combined genetic and epigenetic alterations of the TERT promoter affect clinica...

Leão, Ricardo; Lee, Donghyun; Figueiredo, Arnaldo; Hermanns, Thomas; Wild, Peter; Komosa, Martin; Lau, Irene; Mistry, Mathew; Nunes, Nuno Miguel

In urothelial bladder cancer (UBC), risk stratification remains an important unmet need. Limitless self-renewal, governed by TERT expression and telomerase activation, is crucial for cancer progression. Thus, telomerase activation through the interplay of mutations (TERTpMut ) and epigenetic alterations in the TERT promoter may provide further insight into UBC behavior. Here, we investigated the combined effect...


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