Finding novel vulnerabilities of hypomorphic BRCA1 alleles
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder +10 more
wiley +1 more source
Frequency of the mitochondrial DNA 4977bp deletion in oesophageal mucosa during the progression of Barrett’s oesophagus [PDF]
Purpose: The mechanisms of the progression of Barrett’s oesophagus (BO) to oesophageal adenocarcinoma (OA) are poorly understood. The frequency of the 4977bp deletion in mitochondrialDNA (mtDNA) was investigated in specimens ranging from normal ...
Gilmour, Hugh +8 more
core +1 more source
Oncogenic DMTF1β promotes cancer cell motility by regulating autophagy through ULK1 stabilization
In the current study, we demonstrate that the oncogene DMTF1β regulates ULK1 stability by reducing its proteasomal degradation in cancer cells. This stabilization enables ULK1 to induce autophagy, which in turn facilitates cancer cell migration. Consequently, reduced DMTF1β levels lead to decreased autophagy and impaired cancer cell migration.
Jun Xu +13 more
wiley +1 more source
Association of deletion allele of insertion/deletion polymorphism in α2B adrenoceptor gene and hypertension with or without type 2 diabetes mellitus [PDF]
Safaa I Tayel,1 Heba F Khader,1 Nesreen G El-Helbawy,1 Waleed A Ibrahim21Department of Medical Biochemistry, 2Department of Cardiology, Faculty of Medicine, Menoufiya University, Shebin Elkom, EgyptBackground: Vascular α2B-adrenoreceptors have ...
Ibrahim WA +3 more
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Detection of 1p19q Deletion by Real-Time Comparative Quantitative PCR [PDF]
1p/19q (1p and/or 19q) deletions are prognostic factors in oligodendroglial tumors (OT) and predict better survival after both chemotherapy and radiotherapy. While studying 1p/19q status as a potential variable within multivariate prognosis models for OT,
Chaturbedi, Abhishek +7 more
core +1 more source
Loss of proton‐sensing TDAG8 increases tumor progression in mouse models of colon cancer
Loss of the pH‐sensing receptor TDAG8 accelerates colorectal cancer progression in mice. Animals lacking TDAG8 expression had increased tumor growth, DNA damage, and recruitment of tumor‐associated immune cells, including macrophages, neutrophils, and monocytes.
Ermanno Malagola +11 more
wiley +1 more source
Investigation of the role of t(4;6) and 6q15 deletion in prostate cancer development and progression [PDF]
PhDThe recent identification of TMPRSS2:ETS gene fusions highlighted the importance of chromosomal rearrangement and fusion gene development in prostate tumourigenesis.
Shan, Ling
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The proposed mechanism of action for the CDK12/13 inhibitor and cyclin K degrader, CT7439. CDK12/13 inhibition interrupts transcription elongation, leading to increased DNA damage that results in cell death. This agent is a potentially novel treatment option for patients with colorectal cancer. Created in BioRender. Cyclin‐dependent kinase (CDK) 12 and
Wylie K. Watlington +10 more
wiley +1 more source
Translating whole‐genome doubling into precision medicine in cancer
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley +1 more source
Self Injury in 1p36 deletion syndrome [PDF]
Studies of 1p36 deletion syndrome have focused on physical characteristics with limited exploration of the behavioural phenotype. When behavioural features have been reported, self-injury and aggression are noted.
Marr, Abby
core

