Results 111 to 120 of about 6,058 (200)

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, Xueqi Wang, Stella K. MacDonald, Yijing Liang, Care4Rare Canada Consortium, Hugh J. McMillan, Gabrielle Lemire, Kym M. Boycott   +7 more
wiley   +1 more source

On Drinfel'd associators

, 2017
In 1986, in order to study the linear representations of the braid group $B\_n$coming from the monodromy of the Knizhnik-Zamolodchikov differential equations,Drinfel'd introduced a class of formal power series $\Phi$on noncommutative variables.
Duchamp, Gérard, Minh, Ngoc, Penson, K
core  

LIS1-tjenesten: Jeg kom, jeg så, jeg krysset av [PDF]

, 2022
Beanca Gjølberg Grottenberg
openalex   +1 more source

Editor's evaluation: Structures of human dynein in complex with the lissencephaly 1 protein, LIS1

, 2022
Anna Akhmanova
openalex   +1 more source

Structural and Diffusion MRI Analyses With Histological Observations in Patients With Lissencephaly

Frontiers in Cell and Developmental Biology, 2019
The development of cortical convolutions, gyri and sulci, is a complex process that takes place during prenatal development. Lissencephaly, a rare genetic condition characterized by the lack of cortical convolutions, offers a model to look into ...
Lana Vasung, Lana Vasung, Arthur Rezayev, Arthur Rezayev, Hyuk Jin Yun, Hyuk Jin Yun, Jae W. Song, Andre van der Kouwe, Natalie Stewart, Natalie Stewart, Arthi Palani, Arthi Palani, Tadashi Shiohama, Tadashi Shiohama, Tadashi Shiohama, Francois Chouinard-Decorte, Jacob Levman, Jacob Levman, Jacob Levman, Emi Takahashi, Emi Takahashi   +20 more
doaj   +1 more source

Lis1 mutation prevents basal radial glia-like cell production in the mouse

, 2021
Maxime Penisson, Mingyue Jin, Shengming Wang, Shinji Hirotsune, Fiona Francis, Richard Belvindrah   +5 more
openalex   +2 more sources

New Dystrophin/Dystroglycan interactors control neuron behavior in Drosophila eye

BMC Neuroscience, 2011
Background The Dystrophin Glycoprotein Complex (DGC) is a large multi-component complex that is well known for its function in muscle tissue. When the main components of the DGC, Dystrophin (Dys) and Dystroglycan (Dg) are affected cognitive impairment ...
Rishko Valentyna M, Kucherenko Mariya M, Marrone April K, Shcherbata Halyna R   +3 more
doaj   +1 more source

Retinoic acid reduces human neuroblastoma cell migration and invasiveness: effects on DCX, LIS1, neurofilaments-68 and vimentin expression [PDF]

, 2008
Elio Messi, Maria Carolina Florian, Claudio Caccia, M. Zanisi, Roberto Maggi   +4 more
openalex   +1 more source

Lis1 relieves cytoplasmic dynein-1 auto-inhibition by acting as a molecular wedge [PDF]

, 2022
Eva Karasmanis, Janice M. Reimer, Agnieszka A. Kendrick, Jennifer A. Rodriguez, Joey B. Truong, Indrajit Lahiri, Samara L. Reck‐Peterson, Andrés E. Leschziner   +7 more
openalex   +1 more source

Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregulation in patient-derived forebrain organoids

Nature Communications
LIS1-lissencephaly is a neurodevelopmental disorder marked by reduced cortical folding and severe neurological impairment. Although all cases result from heterozygous mutations in the LIS1 gene, patients present a broad spectrum of severity. Here, we use
Lea Zillich, Matteo Gasparotto, Andrea Carlo Rossetti, Olivia Fechtner, Camille Maillard, Anne Hoffrichter, Eric Zillich, Ammar Jabali, Fabio Marsoner, Annasara Artioli, Ruven Wilkens, Christina B. Schroeter, Andreas Hentschel, Stephanie H. Witt, Nico Melzer, Sven G. Meuth, Tobias Ruck, Philipp Koch, Andreas Roos, Nadia Bahi-Buisson, Fiona Francis, Julia Ladewig   +21 more
doaj   +1 more source