Results 231 to 240 of about 591,252 (334)
ABC of colorectal cancer: The role of clinical genetics in management
, 2000 Trevor Cole
openalex +2 more sources
Molecular Oncology, EarlyView.Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser +11 more
wiley +1 more source
Germline variants in CDKN2A wild‐type melanoma prone families
Molecular Oncology, EarlyView.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
New Microbes and New Infections, EarlyView., 2014 Abstract We describe a case of fungal keratitis due to Beauveria bassiana in a farmer with Fuchs' dystrophy, treated with amphotericin B. Surgery with penetrating keratoplasty was necessary to resolve the lesions. Susceptibility testing and molecular sequencing permitted the identification and treatment of this rare aetiological agent of invasive ...
M. Ligozzi +8 more
wiley +1 more source
Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion. [PDF]
Genet Med OpenKerman BJ +14 more
europepmc +1 more source
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
Q fever outbreak in the terraced vineyards of Lavaux, Switzerland
New Microbes and New Infections, EarlyView., 2014 Abstract Coxiella burnetii infection (Q fever) is a widespread zoonosis with low endemicity in Switzerland, therefore no mandatory public report was required. A cluster of initially ten human cases of acute Q fever infections characterized by prolonged fever, asthenia and mild hepatitis occurred in 2012 in the terraced vineyard of Lavaux ...
C. Bellini +9 more
wiley +1 more source