Luiza Steffens Reinhardt

Adult-Onset Hereditary Thrombotic Thrombocytopenic Purpura Presenting as Kidney Failure

Sumedh Jayanti, Esther Ting, Seethalakshmi Viswanathan, Noha A. Elserafy et autres

Hereditary thrombotic thrombocytopenic purpura (TTP) is a rare autosomal recessive disorder caused by ADAMTS13 deficiency, typically presenting in childhood or early adulthood. We describe an atypical presentation of hereditary TTP in a 55-year-old man presenting with acute kidney injury on a background …

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Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing

Luiza Steffens Reinhardt, Alexander Coster, Sean M. Burnard, Caitlin S. Romanis et autres

Epithelial cell adhesion molecule ( EPCAM )-associated Lynch syndrome arises from deletions at the 3′-end of EPCAM that disrupt transcriptional termination, generate read-through transcripts and cause epigenetic silencing of MSH2 in EPCAM-expressing tissues. However, the clinical significance of deletions confined to the …

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Stroma-Driven Neuroplasticity as a Driver of Tumor Progression

Hubert Hondermarck, Luiza Steffens Reinhardt, Chen Chen Jiang

In this issue of Cancer Discovery, Nigri and colleagues identify myofibroblastic cancer-associated fibroblasts as drivers of sympathetic nerve recruitment and activation in pancreatic ductal adenocarcinoma. By uncovering a feedforward stromal-sympathetic circuit, the study establishes neuroplasticity as a fibroblast-orchestrated and therapeutically targetable process …

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Hypomethylating agents induce epigenetic and transcriptional heterogeneity with implications for acute myeloid leukemia cell self-renewal

Danielle R. Bond, Sean M. Burnard, Kumar Uddipto, Kooper V Hunt et autres

DNA hypomethylating agents (HMAs), such as azacytidine (AZA, 5-azacytidine) and decitabine (DAC, 2’-deoxy-5-azacytidine), are used to treat acute myeloid leukaemia (AML) and myelodysplastic neoplasm. However, low response rates and therapy-resistant relapse remain significant challenges [ 1 ]. Reasoning that HMA-resistant relapse could …

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Effect of genistein and coenzyme Q10 in oxidative damage and mitochondrial membrane potential in an attenuated type II mucopolysaccharidosis cellular model

Camila Aguilar Delgado, Édina Poletto, Luisa Natália Pimentel Vera, Carlos Eduardo Diaz Jacques et autres

Mucopolysaccharidosis type II (MPS II) is an inborn error of the metabolism resulting from several possible mutations in the gene coding for iduronate-2-sulfatase (IDS), which leads to a great clinical heterogeneity presented by these patients. Many studies demonstrate the involvement of oxidative …

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Hypomethylating agents induce epigenetic and transcriptional heterogeneity with implications for AML cell self-renewal

Danielle R. Bond, Sean M. Burnard, Kumar Uddipto, Kooper V Hunt et autres

Abstract DNA hypomethylating agents (HMAs) are used to treat acute myeloid leukemia (AML) and myelodysplasia patients who are unsuitable for intensive chemotherapy. However, low response rates and therapy-resistant relapse remain significant challenges. To improve outcomes, we must understand how AML cells survive …

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Development and characterization of a temozolomide-loaded nanoemulsion and the effect of ferrocene pre and co-treatments in glioblastoma cell models

Jeferson Gustavo Henn, Matheus Bernardes Ferro, Gabriel Antonio Lopes Alves, Flávia Pires Peña et autres

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It is not all about the alpha: elevated expression of p53β variants is associated with lower probability of survival in a retrospective melanoma cohort

Kira Groen, Luiza Steffens Reinhardt, Jean‐Christophe Bourdon, Kelly A. Avery‐Kiejda

BACKGROUND: Melanoma is the deadliest type of skin cancer and despite improvements in treatment outcomes, melanoma claimed 57,043 lives in 2020. In most malignancies, p53 mutation rates are above 50% and provide prognostic indications. However, in melanoma where less than a quarter …

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p53 isoform expression promotes a stemness phenotype and inhibits doxorubicin sensitivity in breast cancer

Luiza Steffens Reinhardt, Kira Groen, Xiajie Zhang, Brianna C. Morten et autres

In breast cancer, dysregulated TP53 expression signatures are a better predictor of chemotherapy response and survival outcomes than TP53 mutations. Our previous studies have shown that high levels of Δ40p53 are associated with worse disease-free survival and disruption of p53-induced DNA damage …

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Effects of different maternal diets on adipose tissue inflammation and liver tissue oxidative stress in dams and their female offspring

Joana Fisch, Ana Carolina de Moura, Vanessa Feistauer, Luiza Steffens Reinhardt et autres

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p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression

Luiza Steffens Reinhardt, Kira Groen, Alexandre Xavier, Kelly A. Avery‐Kiejda

In breast cancer, p53 expression levels are better predictors of outcome and chemotherapy response than TP53 mutation. Several molecular mechanisms that modulate p53 levels and functions, including p53 isoform expression, have been described, and may contribute to deregulated p53 activities and worse …

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p53 isoform expression promotes a stemness phenotype and inhibits doxorubicin sensitivity in breast cancer

Luiza Steffens Reinhardt, Kira Groen, Xiajie Zhang, Brianna C. Morten et autres

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