Results 81 to 90 of about 29,501 (185)
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
Function of ATM and MSH2 During DNA Repair and Recombination [PDF]
, 2022 Class switch recombination (CSR) produces secondary immunoglobulin isotypes and requires AID-dependent DNA deamination of intronic switch (S) regions within the immunoglobulin heavy chain (Igh) gene locus.
Sible, Emily
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
Genotype-phenotype correlation in MSH2 mutation carriers.
, 2013 Genotype-phenotype correlation in MSH2 mutation carriers.
Atocha Romero (395283) +8 more
core +1 more source
Characterization of a rare variant (c.2635-2A>G) of the gene in a family with Lynch syndrome
The International Journal of Biological Markers, 2018 Introduction: Lynch syndrome is caused by germline mutations in one of the mismatch repair genes ( MLH1, MSH2, MSH6 , and PMS2) or in the EPCAM gene. Lynch syndrome is defined on the basis of clinical, pathological, and genetic findings. Accordingly, the
Filomena Cariola +12 more
doaj +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
MSH2 is required for obligate crossover formation in wheat
, 2019 In wheat, meiotic crossovers (COs) are skewed towards the ends of the chromosomes. Consequently ~30% of genes rarely or never recombine, which is problematic for wheat breeders as it results in linkage-drag, where beneficial traits co-segregate with ...
Ogle, D. +6 more
core
Neurobiology of Disease, 2012 Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a dynamic GAA repeat expansion mutation within intron 1 of the FXN gene.
Vahid Ezzatizadeh +6 more
doaj +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
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