Results 91 to 100 of about 33,127 (201)
Evaluation of Mutation Risk Using Patient‐Derived Organoids in Patients With Lynch Syndrome
International Journal of Cancer, Volume 159, Issue 10, Page 2585-2594, 15 November 2026.ABSTRACT Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes, most notably associated with colorectal cancer. Although LS patients face high risk of CRC, risk can vary even among those with the same pathogenic MMR germline mutations. We suggest a functional assay platform for
Youmi Shin +10 more
wiley +1 more source
, 2019 Additional file 12: Table S5. A. Primers and conditions. B. Localization of the probes and regions analyzed in the study of MLH1 methylation.
Fátima Marín (8059481) +21 more
core +1 more source
Clinical and Translational Discovery, Volume 6, Issue 5, October 2026.Clustered regularly interspaced short palindromic repeat (CRISPR) is transforming Huntington's disease research through allele‐selective huntingtin (HTT) targeting, transcriptional and RNA suppression, and advanced disease modelling. Progress towards precision therapy depends on safe central nervous system (CNS) delivery, reduced off‐target and immune ...
Kairat Zhakipbekov +11 more
wiley +1 more source
Estradiol Promotes Tumor Progression in ERα‐Low Endometrial Cancer via the GPER/SphK1 Pathway
Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 10, October 2026.Estradiol (E2) promotes tumor progression in ERα‐low endometrial cancer through the GPER/SphK1/ERK1/2 signaling axis. E2 binding to GPER activates SphK1 and downstream ERK1/2, upregulating Cyclin D1, Cyclin E1, and MMP‐9 to drive cell proliferation, migration, and invasion.
Xiuwen Wang +6 more
wiley +1 more source
Learning Health Systems, Volume 10, Issue 4, October 2026.ABSTRACT Introduction The UK National Institute for Health and Care Excellence (NICE) produce guidelines that provide evidence‐based recommendations to support clinical care across England and Wales, but remain available in unstructured natural language form.
Ashvin Gupta +3 more
wiley +1 more source
MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.
PLoS ONE, 2014 BackgroundFriedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression.
Vahid Ezzatizadeh +5 more
doaj +1 more source
MedComm, Volume 7, Issue 10, October 2026.Cooccurrence of dMMR and HRD in colorectal cancer. On the left blue shaded area, the dMMR (deficient mismatch repair) pathway is shown as a result of the loss of key DNA repair genes MLH1, MSH2, MSH6, and PMS2, which cause single strand breaks.
Xu Zhang +3 more
wiley +1 more source
The ‘Prostate Cancer Screening for People at Genetic Risk of Aggressive Disease’ (PATROL) study
BJU International, Volume 138, Issue 4, Page 600-606, October 2026.Background Inherited (germline) pathogenic and likely pathogenic variants (gPVs) in key genes associated with increased risk of prostate cancer (PCa) now warrant more attentive PCa screening per National Comprehensive Cancer Network (NCCN) guidelines—e.g., BRCA2, HOXB13, ATM, BRCA1, MSH2, MSH6, CHEK2 and TP53.
Heather H. Cheng +12 more
wiley +1 more source
Dye tags influence single expression of MLH1 and PMS2.
, 2013 To determine the influence of fluorescent tags on single expressed MLH1 or PMS2 variants, HEK293T cells were transfected with different (A) MLH1 or (B) PMS2 constructs.
Ronja Adam (333161) +5 more
core +1 more source
The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review
Pediatric Blood &Cancer, Volume 73, Issue 9, September 2026.ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo +5 more
wiley +1 more source