Results 91 to 100 of about 73,095 (214)
Copy number variation analysis in The Cancer Genome Atlas identified NTAQ1 as a potential driver of HCC progression. NTAQ1 accelerates tumor growth by promoting the degradation of the tumor suppressor protein PRDM2, thereby impairing DNA repair and suppressing apoptosis. These findings indicate that NTAQ1 could be a valuable target for the treatment of
Tomohiko Ikehara +21 more
wiley +1 more source
Multi‐region sequencing of 57 BRCA1‐associated breast cancers identified TP53 as the dominant initial driver, defining a triple‐negative subgroup with biallelic BRCA1 loss and elevated genomic instability. TP53 truncating mutations were enriched in BRCA1 carriers and linked to reduced HRD, EMT activation, and a trend toward worse survival.
Li Hu +13 more
wiley +1 more source
Lifestyle Management in Menopause: A Systematic Review of Women With Premature Ovarian Insufficiency
ABSTRACT Objective Premature ovarian insufficiency (POI), the loss of ovarian function before age 40, increases the risk of cardiovascular disease, low bone mineral density, dementia and psychological distress. Lifestyle interventions reduce chronic disease risk in other populations and, with hormone therapy, may improve health outcomes in POI.
Ladan Yeganeh +4 more
wiley +1 more source
Liquid Biopsy and Multi‐Cancer Early Detection Tests for Cancer Screening: A Scoping Review
There is a large body of evidence on liquid biopsy and multi‐cancer detection tests for cancer screening. Most studies addressed test performance outcomes, while fewer addressed clinical outcomes, implementation, and cost‐effectiveness. No studies evaluated cancer mortality.
Tessa Robinson +6 more
wiley +1 more source
Abstract Cingulata, a major lineage of Xenarthra, comprises extinct and extant armoured placental mammals that diversified throughout the Cenozoic. Despite extensive study, phylogenetic hypotheses based on morphological and molecular data remain incongruent, and no total evidence analysis has been conducted. Here, we integrate the largest morphological
Daniel M. Casali +7 more
wiley +1 more source
Background Breast cancer is one of the major global health concerns, and the investigation of mutations in the BRCA1 gene is essential for prevention and treatment. Carriers of pathogenic BRCA1 gene variants face an increased risk of breast cancer during
Masoumeh Jangjou +3 more
doaj +1 more source
Genetic testing in paediatric neurological disorders
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba +15 more
wiley +1 more source
The R203W substitution drives PACS‐1 syndrome by disrupting intramolecular regulation
The middle region (MR) of PACS‐1 controls engagement with specific partner proteins. This manuscript presents the structure of the Furin binding region (FBR) and how interactions with partners are regulated through the interplay between a basic patch in the FBR and an acidic cluster in the MR.
Troy C. Krzysiak +7 more
wiley +1 more source

