Results 111 to 120 of about 8,390 (226)
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
Toru Nagata +6 more
wiley +1 more source
Journal of Cellular Biochemistry, Volume 125, Issue 7, July 2024.ABSTRACT The 14‐3‐3 family of proteins are highly conserved acidic eukaryotic proteins (25–32 kDa) abundantly present in the body. Through numerous binding partners, the 14‐3‐3 is responsible for many essential cellular pathways, such as cell cycle regulation and gene transcription control.
Zheng Yao Low +3 more
wiley +1 more source
Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases
MedComm, Volume 5, Issue 7, July 2024.The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng +2 more
wiley +1 more source
Lis1 activates dynein motility by pairing it with dynactin [PDF]
, 2019 AbstractLissencephaly-1 (Lis1) is a key cofactor for dynein-mediated intracellular transport towards the minus-ends of microtubules (MTs). It remains unclear whether Lis1 serves as an inhibitor or an activator of mammalian dynein motility. Here we use single-molecule imaging and optical trapping to show that Lis1 does not directly alter the stepping ...
Elshenawy, Mohamed M. +5 more
openaire +2 more sources
A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy
American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
Giulia F. Del Gobbo +7 more
wiley +1 more source
Cell Reports, 2017 Miller-Dieker syndrome (MDS) is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE (coding for 14.3.3ε) and leads to malformations during cortical development.
Vira Iefremova +10 more
doaj +1 more source
Heegaard Floer homology of surgeries on two-bridge links [PDF]
, 2014 We give an $O(p^{2})$ time algorithm to compute the generalized Heegaard Floer complexes $A_{s_{1},s_{2}}^{-}(\overrightarrow{L})$'s for a two-bridge link $\overrightarrow{L}=b(p,q)$ by using nice diagrams.
Liu, Yajing
core
Epilepsia, Volume 65, Issue 5, Page 1451-1461, May 2024.Abstract Objective The contribution of somatic variants to epilepsy has recently been demonstrated, particularly in the etiology of malformations of cortical development. The aim of this study was to determine the diagnostic yield of somatic variants in genes that have been previously associated with a somatic or germline epilepsy model, ascertained ...
Robert J. Carton +23 more
wiley +1 more source
Journal of Cell Biology, 2012 ![Figure][1] Endosomes (green) move in normal fungi (top) but stay put if Lis1 is absent (bottom). Egan et al. clarify the role of the dynein co-factor Lis1 in cargo transport. The molecular motor dynein ferries cargoes toward the minus ends of microtubules, typically toward the nucleus.
openaire +3 more sources
ILAE neuroimaging task force highlight: Subcortical laminar heterotopia
Epileptic Disorders, Volume 26, Issue 2, Page 225-232, April 2024.Abstract The ILAE Neuroimaging Task Force publishes educational case reports that highlight basic aspects of neuroimaging in epilepsy consistent with the ILAE's educational mission. Subcortical laminar heterotopia, also known as subcortical band heterotopia (SBH) or “double cortex,” is an intriguing and rare congenital malformation of cortical ...
Burkhard S. Kasper +15 more
wiley +1 more source