Results 141 to 150 of about 245,400 (261)

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
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, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

U2 snRNP recognizes the branch site through a loaded-spring strand-invasion mechanism. [PDF]

Nucleic Acids Res
Pokorná P, Pena V, Magistrato A.
europepmc   +1 more source

Mosaic activation of the zebrafish hsp70l heat shock promoter: Implications for interpreting transgenes

Developmental Dynamics, EarlyView.
Abstract Background The promoters and enhancers of heat shock genes, such as the 1.5‐kb promoter of the zebrafish hsp70l gene, are valuable tools for temporal activation of transgenes. It has been widely purported that heat shock treatments result in ubiquitous expression of hsp70l‐driven transgenes.
Jong‐Su Park, Xiangyun Wei
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Precise Reproductive Counseling Enabled by Long-Read Sequencing in a Case of a <i>F8</i> Intron 1 Inversion and Duplication. [PDF]

Appl Clin Genet
Yan Y, Jin P, Xu L, Ma Y, Dong M.
europepmc   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

The transcription factor AP-1 regulates the catalase family and oxidative stress adaptation in the dermatophyte Trichophyton rubrum. [PDF]

Sci Rep
Petrucelli MF, Azevedo MIG, Oliveira VM, Sanches PR, Rossi A, Martinez-Rossi NM.   +5 more
europepmc   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Premature cleavage and polyadenylation in the minor intron of PTEN modulate its expression and generate a functional long non-coding RNA. [PDF]

iScience
Elesnawy M, Elghandour R, Hasna H, Fakhroo A, Al-Sulaiti B, Younis I.   +5 more
europepmc   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source