Germline variants in CDKN2A wild‐type melanoma prone families
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen+5 more
wiley +1 more source
Genetic Correlation and Mendelian Randomization Analysis Revealed an Unidirectional Causal Relationship Between Left Caudal Middle Frontal Surface Area and Cigarette Consumption. [PDF]
Xie H+11 more
europepmc +1 more source
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
Genetic correlation between fetal nuchal translucency thickening and cystic hygroma and exploration of pregnancy outcome. [PDF]
Zheng J+9 more
europepmc +1 more source
Correlation of Morphologic and Cytogenetic Parameters of Genetic Instability With Chromosomal Alterations in In Situ Carcinomas of the Breast [PDF]
Horst Buerger+8 more
openalex +1 more source
We identified adaptor protein ShcD as upregulated in triple‐negative breast cancer and found its expression to be correlated with reduced patient survival and increased invasion in cell models. Using a proteomic screen, we identified novel ShcD binding partners involved in EGFR signaling pathways.
Hayley R. Lau+11 more
wiley +1 more source
The Causal Relationship Between Gut Microbiomes, Inflammatory Mediators, and Traumatic Brain Injury in Europeans: Evidence from Genetic Correlation and Functional Mapping Annotation Analyses. [PDF]
Song B+10 more
europepmc +1 more source
Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations [PDF]
Kyproulla Demetriou+7 more
openalex +1 more source
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