Results 171 to 180 of about 79,198 (289)
Clinical Genetics, EarlyView.RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson +11 more
wiley +1 more source
Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology
Epilepsia, EarlyView.Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini +50 more
wiley +1 more source
Genomic Analysis of Inbreeding Depression on Productive Traits in Rubia Galega Beef Cattle Breed
Journal of Animal Breeding and Genetics, EarlyView.ABSTRACT In autochthonous livestock breeds with small populations, such as the Rubia Galega from Galicia (Spain), mating between relatives is common and can lead to inbreeding depression. Genomic inbreeding coefficients were estimated for 4984 animals using ~63,000 SNPs to assess inbreeding depression in four key traits: age at first calving (AFC) with
N. Mejuto‐Vázquez +6 more
wiley +1 more source
Non-Mendelian Inheritance of Paralogs of 2 Cytoskeletal Genes in the Ciliate Chilodonella uncinata [PDF]
, 2007 Tessa Robinson, Laura A. Katz
openalex +1 more source
Ontogeny of escape response and body shape in threespine stickleback (Gasterosteus aculeatus L.)
Journal of Fish Biology, EarlyView.Abstract Escape responses in fishes provide insight into accelerative motions and behavioural response times of these animals, linking numerous fitness‐related traits. We sought to connect escape response performance to genotype and phenotype across ontogenetic stages within a single population of threespine stickleback (Gasterosteus aculeatus L.) to ...
Aspen M. Kozak +4 more
wiley +1 more source
Journal of Integrative Plant Biology, EarlyView.Fusions of a transactivation module and a double‐stranded DNA‐binding domain produced effective Cas12i3 variant‐based cytosine and adenine base editors, with improved C‐to‐T and A‐to‐G base editing efficiency and expanded editing window. Generated herbicide‐resistant rice germplasm by using these base editors demonstrates their potential for precise ...
Chen Zhang +7 more
wiley +1 more source
Gender-specific ageing and non-Mendelian inheritance of oxidative damage in marine copepods [PDF]
, 2009 Laura Rodríguez‐Graña +4 more
openalex +1 more source
A Principled Framework for Mendelian Randomization in Oral Health Research
Journal of Periodontal Research, EarlyView.This methodological article provides a clear and accessible overview of Mendelian randomization for oral health researchers, emphasizing the core assumptions needed for credible causal inference. Focusing on applications in oral health, particularly periodontitis, it highlights both the strengths and limitations of the study design in order to support ...
Nasir Z. Bashir +5 more
wiley +1 more source