Results 191 to 200 of about 39,377 (243)
Chemistry – A European Journal, EarlyView.5‐Substituted 2‐(naphthalen‐2‐yl)‐4H‐chromen‐4‐ones are reported as a novel class of highly potent and selective triplex DNA ligands. These ligands induce triplex formation at submicromolar concentrations and inhibit enzymatic activity via ligand‐mediated triplex formation.
Nghia Tran +4 more
wiley +1 more source
Cytoskeleton, EarlyView.ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen +3 more
wiley +1 more source
Developmental Dynamics, EarlyView.Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff +6 more
wiley +1 more source
The role of Rho GTPases in facial morphogenesis
Developmental Dynamics, EarlyView.The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley +1 more source
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
Role of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source
Developmental Dynamics, EarlyView.Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard +3 more
wiley +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 +6 more
wiley +1 more source
Insights into ANKRD11‐related epilepsy from 163 people
Epilepsia, EarlyView.Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su +6 more
wiley +1 more source