Results 111 to 120 of about 79,198 (289)
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Genomic imprinting and its role in ethiology of human hereditary diseases
Бюллетень сибирской медицины, 2004 Genomic imprinting is a form of non-Mendelian epigenetic inheritance that is defined by differential gene expression depending on its parental origin — maternal or paternal.
S. A. Nazarenko
doaj +1 more source
Determining When an Algebra Is an Evolution Algebra
Mathematics, 2020 Evolution algebras are non-associative algebras that describe non-Mendelian hereditary processes and have connections with many other areas. In this paper, we obtain necessary and sufficient conditions for a given algebra A to be an evolution algebra. We
Miguel D. Bustamante +2 more
doaj +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Molecular Mechanisms of Non-Mendelian Inheritance in Genetic Diseases
Medical Principles and Practice, 1994 Recently identified molecular mechanisms (mitochondrial DNA mutations, genomic imprinting, uniparental disomy, unstable trinucleotide repeats) responsible for the non-Mendelian patterns of some genetic diseases are reviewed. Among the diseases considered are LHON (Leber’s hereditary optic neuropathy), MERRF (myoclonic epilepsy with ragged-red fibers ...
Elena Samilchuk +2 more
openaire +1 more source
Journal of Periodontology, EarlyView.Abstract Historically, immunological memory was considered an exclusive feature of adaptive immunity. However, innate immune cells have recently been shown to record and maintain epigenetically imprinted memory of earlier infectious or inflammatory challenges.
George Hajishengallis
wiley +1 more source
The system of genetic exchange in Trypanosoma brucei and other trypanosomatids [PDF]
, 2007 In this chapter, we discuss our current understanding of the systems of genetic exchange in trypanosomatids and the im-pact the recent genome projects have had on this area of research.
MacLeod, A., Tait, A., Turner, C.M.R.
core
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Movement Disorders, EarlyView.Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino +30 more
wiley +1 more source
B chromosomes of Aegilops speltoides are enriched in organelle genome-derived sequences.
PLoS ONE, 2014 B chromosomes (Bs) are dispensable components of the genome exhibiting non-Mendelian inheritance. Chromosome counts and flow cytometric analysis of the grass species Aegilops speltoides revealed a tissue-type specific distribution of the roughly 570 Mbp ...
Alevtina Ruban +7 more
doaj +1 more source