Results 111 to 120 of about 319,715 (326)

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, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +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, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Epigenetic inflammatory memory and periodontal disease: Mechanisms and clinical significance for comorbidities

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

CRISPR-based gene drives generate super-Mendelian inheritance in the disease vector Culex quinquefasciatus. [PDF]

Nat Commun, 2023
Harvey-Samuel T, Harvey-Samuel T, Feng X, Okamoto EM, Purusothaman DK, Leftwich PT, Alphey L, Gantz VM.   +7 more
europepmc   +2 more sources

Epigenetic memory in mammals

Frontiers in Genetics, 2011
Epigenetic information can be passed on from one generation to another via DNA methylation, histone modifications and changes in small RNAs, a process called epigenetic memory.
Zoe eMigicovsky, Igor eKovalchuk
doaj   +1 more source

Group size planning for breedings of gene-modified mice and other organisms following Mendelian inheritance [PDF]

, 2023
Vladislava Milchevskaya, Philippe Bugnon, Emiel B. J. ten Buren, Dominique Vanhecke, F.A. Brand, Achim Tresch, Thorsten Buch   +6 more
openalex   +1 more source

McKusick's Online Mendelian Inheritance in Man (OMIM®)

Nucleic Acids Res., 2008
McKusick's Online Mendelian Inheritance in Man (OMIM®; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966. The content of OMIM is derived exclusively
J. Amberger, Carol A. Bocchini, A. F. Scott, A. Hamosh   +3 more
semanticscholar   +1 more source

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, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Knudson to embryo selection: A story of the genetics of retinoblastoma

Taiwan Journal of Ophthalmology, 2018
Retinoblastoma, the most common primary intraocular malignancy of the young, is a prototype hereditary cancer. Due to its fairly predictable Mendelian inheritance, easily examinable tumors, and early age of presentation, RB has served as the most ...
Vrushali Athavale, Vikas Khetan
doaj   +1 more source

LRRK2 as a Potential Disease‐Modifying Target in Sporadic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract A growing understanding of the role that leucine‐rich repeat kinase 2 (LRRK2) plays in Parkinson's disease (PD) supports continued focus on this enzyme as a therapeutic target for PD. Accumulating evidence suggests that there are phenotypic, neuropathologic, and biological similarities between sporadic PD (sPD) and familial forms in which ...
Anthony E. Lang, Robert A. Hauser, Lorraine V. Kalia, Bonnie Hersh, Zdenek Berger, Roy Llorens Arenas, Coro Paisan‐Ruiz, Kyle Fraser, Danna Jennings, Jillian H. Kluss, Sarah Huntwork‐Rodriguez, Anastasia G. Henry, J. Timothy Greenamyre   +12 more
wiley   +1 more source