Results 111 to 120 of about 116,502 (262)
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith +9 more
wiley +1 more source
The chemotherapeutic 5‐fluorouracil (5‐FU) is commonly used to treat solid tumors, especially colorectal cancer. Deleterious variants in DPYD, which encodes dihydropyrimidine dehydrogenase (DPD), are strongly associated with severe and potentially lethal 5‐FU toxicity.
Brianna M. Bembenek +4 more
wiley +1 more source
Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source
Abstract The sea anemone, Nematostella vectensis, has been used as a model organism in developmental biology studies for many years. This estuarine species has the notable capacity to regenerate its full body plan from small pieces throughout life. Nematostella have been described as having a great degree of cellular plasticity.
Patrick A. Lewis +3 more
wiley +1 more source
What sets the mutation rate of a cell type in an animal species?
Germline mutation rates per generation are strikingly similar across animals, despite vast differences in life histories. Analogously, in at least one somatic cell type, mutation burdens at the end of lifespans are comparable across mammals.
Marc de Manuel +3 more
doaj +1 more source
Genetic testing among patients evaluated for epilepsy surgery
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela +7 more
wiley +1 more source
Abstract Background Medullary thyroid cancer (MTC) standard of care includes multikinase inhibitors (MKIs), which can exacerbate disease‐related diarrhea, primarily because of non‐RET kinase inhibition. We report diarrhea and other patient‐reported outcomes (PROs) with selpercatinib, a highly selective RET inhibitor, among patients with RET‐mutant MTC ...
Lori J. Wirth +10 more
wiley +1 more source
Deep whole genome sequencing of epileptogenic brain lesions
Abstract Objective Malformations of cortical development and low‐grade epilepsy‐associated tumors often cause drug‐resistant lesional focal epilepsy (LFE) amenable to surgical treatment. Genetic testing of resected brain tissue can provide diagnostic and mechanistic information and may eventually support personalized treatment approaches.
Christian M. Boßelmann +17 more
wiley +1 more source
ABSTRACT Introduction Thyroid nodules are less common but more often malignant in pediatric patients than in adults. Our objectives were to study the features of benign vs. malignant thyroid nodules in a large pediatric patient cohort. Methods Retrospective observational cohort study. Consecutive patients aged 0.01–17.9 years at evaluation between 1997–
Maxime Gest‐Laurent +15 more
wiley +1 more source
ABSTRACT Oral Cancer often occurs from the transformation of precursor lesions, and this offers an opportunity for early detection. Current methods to assess risk of precursor lesion progression to oral cancer incompletely predict risk. A multimodal framework that leverages machine learning is needed to improve prediction.
Michael E. Troka, James C. Gates
wiley +1 more source

