Results 91 to 100 of about 19,899 (215)
Genetic testing in paediatric neurological disorders
Developmental Medicine &Child Neurology, EarlyView.In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba +15 more
wiley +1 more source
Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis [PDF]
, 1995 Using gene targeting in embryonic stem cells, we have derived mice with a null mutation in a DNA mismatch repair gene homolog, PMS2. We observed microsatellite instability in the male germline, in tail, and in tumor DNA of PMS2-deficient animals.
Robatzek, Merrilee +11 more
core +1 more source
Ecological Entomology, EarlyView.Hamiltonella defensa infection increases honeydew production in certain aphid genotypes, potentially modifying aphid feeding behaviour. Parasitoid wasps, Aphidius ervi, are more attracted to honeydew from H. defensa‐infected aphids; though larger honeydew amounts may slightly deter searching.
Desiré Macheda +5 more
wiley +1 more source
Sporadic colorectal polyps and mismatch repair proteins
Indian Journal of Pathology and Microbiology, 2011 Background: Colorectal cancers often arise from benign polyps. Adenomatous polyps and serrated polyps progress step by step to adenocarcinoma and change into malignant cancers. Genetic and epigenetic changes have correlation with specific stages of polyp-
Mahsa Molaei +5 more
doaj +1 more source
Veterinary and Comparative Oncology, EarlyView.ABSTRACT DNA mismatch repair (MMR) deficiency is a clinically important biomarker in human oncology, yet its relevance in feline neoplasia remains poorly understood due to limited characterisation and the absence of validated reagents. In this study, we established a practical immunohistochemistry (IHC) approach for evaluating feline MMR proteins by ...
Shoma Nishibori +7 more
wiley +1 more source
Genetics in Medicine OpenThis study investigates the frequency of a clinically reported variant in PMS2, NM_000535.7:c.2523G>A p.(W841∗), from next-generation sequencing studies in 2 racially diverse cohorts. We identified clinical reports of the PMS2 c.2523G>A p.(W841∗) variant
Jacqueline Cappadocia +143 more
doaj +1 more source
International Journal of Cancer, Volume 159, Issue 10, Page 2606-2618, 15 November 2026.ABSTRACT MET is an actionable receptor tyrosine kinase, and MET‐directed antibody–drug conjugates (ADCs) have recently entered clinical practice with FDA approval in non‐small cell lung cancer and are now being evaluated across gastrointestinal malignancies, with patient selection based on MET immunohistochemistry (IHC) 3+ membranous staining at ...
Tillmann Bedau +7 more
wiley +1 more source
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
PMS2-associated Lynch syndrome : the odd one out [PDF]
, 2018 Colorectal cancer is one of the most frequently diagnosed cancers in the Western world. Both hereditary and genetic factors play a role in its etiology.
Broeke, S.W. ten
core
Young Adult With Malignant Phyllodes Undergoing Adjuvant Radiotherapy With Bolus
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT Malignant phyllodes tumor of the breast (MPTB) is a rare fibroepithelial tumor and very uncommon among young adult women. It has a higher likelihood of local recurrence (LR) compared to other phyllodes tumors of the breast. Due to limited data, there is no established consensus regarding adjuvant radiotherapy for MPTB.
Dominic Rafie +2 more
wiley +1 more source