Results 101 to 110 of about 11,580,920 (364)
Molecular Oncology, EarlyView.Chronic TGF‐β exposure drives epithelial HCC cells from a senescent state to a TGF‐β resistant mesenchymal phenotype. This transition is characterized by the loss of Smad3‐mediated signaling, escape from senescence, enhanced invasiveness and metastatic potential, and upregulation of key resistance modulators such as MARK1 and GRM8, ultimately promoting
Minenur Kalyoncu +11 more
wiley +1 more source
Brain and Behavior, 2023 Background and aim Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. Cognitive decline contributes to the loss of daily activity in manifest HD.
Yang‐Fan Cheng +12 more
doaj +1 more source
A scoping review and proposed workflow for multi-omic rare disease research
Orphanet Journal of Rare Diseases, 2020 Background Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene ...
K. Kerr +5 more
semanticscholar +1 more source
Molecular Oncology, EarlyView.Dual targeting of AKT and mTOR using MK2206 and RAD001 reduces tumor burden in an intracardiac colon cancer circulating tumor cell xenotransplantation model. Analysis of AKT isoform‐specific knockdowns in CTC‐MCC‐41 reveals differentially regulated proteins and phospho‐proteins by liquid chromatography coupled mass spectrometry. Circulating tumor cells
Daniel J. Smit +19 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2020 Background Many people living and working with rare diseases describe consistent difficulties accessing appropriate information and support. In this study an evaluation of the awareness of rare diseases, alongside related information and educational ...
J. Mcmullan +7 more
semanticscholar +1 more source
Molecular Oncology, EarlyView.This nationwide study evaluated KRAS and NRAS mutations in 10 754 Turkish patients with metastatic colorectal cancer. The results revealed a mutation frequency of 51.1%, with 46.6% having KRAS mutations, 4.5% having NRAS mutations, and 48.5% being wild‐type for both.
Gozde Kavgaci +6 more
wiley +1 more source
A civil society view of rare disease public policy in six Latin American countries
Orphanet Journal of Rare Diseases, 2020 Patients with rare diseases across the world struggle to access timely diagnosis and state-of-the-art treatment and management of their conditions. Several recently published reviews highlight the importance of country efforts to address rare diseases ...
Mo Mayrides +2 more
semanticscholar +1 more source
Molecular Oncology, EarlyView.The pan‐HDAC inhibitor belinostat increases the expression of the pro‐apoptotic proteins Bim, Puma, and Noxa and induces apoptosis in ovarian cancer cell lines and patient‐derived tumor organoids when used at high concentrations. Moreover, inhibiting the anti‐apoptotic proteins Bcl‐xL or Mcl‐1 sensitizes these preclinical models to the cytotoxic effect
Cécilia Thomine +10 more
wiley +1 more source
Rare disease in Malaysia: Challenges and solutions
PLoS ONE, 2020 Objective Rare diseases are often underdiagnosed, and their management is frequently complicated by a lack of access to treatment and information about the diseases. To allow for better policy planning, we sought to examine the current status of managing
A. Shafie +6 more
semanticscholar +1 more source
Molecular Oncology, EarlyView.In patients treated with atezolizumab as a part of the MyPathway (NCT02091141) trial, pre‐treatment ctDNA tumor fraction at high levels was associated with poor outcomes (radiographic response, progression‐free survival, and overall survival) but better sensitivity for blood tumor mutational burden (bTMB).
Charles Swanton +17 more
wiley +1 more source