Results 31 to 40 of about 13,805 (257)

Structures of human cytoplasmic dynein in complex with the lissencephaly 1 protein, LIS1

bioRxiv, 2022
The lissencephaly 1 protein, LIS1, is mutated in type-1 lissencephaly and is a key regulator of cytoplasmic dynein-1. At a molecular level, current models propose that LIS1 activates dynein by relieving its autoinhibited form. We recently reported a 3.1Å
J. Reimer, M. DeSantis, Samara L. Reck-Peterson, A. Leschziner   +3 more
semanticscholar   +1 more source

EEG in lissencephaly [PDF]

International Journal of Epilepsy, 2014
AbstractWe report the characteristic EEG findings of an infant with lissencephaly who presented with infantile spasms.
Puneet Jain, Suvasini Sharma, Satinder Aneja   +2 more
openaire   +1 more source

A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly

Tokyo Women's Medical University Journal, 2020
Lissencephaly is a severe brain malformation associated with abnormal formation of cerebral sulci. Until now, many genes related to lissencephaly have been identified.
Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto   +5 more
doaj   +1 more source

Intrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]

, 2021
Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.
Di Meglio A., Di Meglio L., Di Meglio L., Locci M., Mastantuoni E., Raffone A., Riccardi C., Saccone G., Toscano P., Zullo F.   +9 more
core   +1 more source

Role of Physiotherapy in Pediatric Lissencephaly: A Case Report and Therapeutic Insights. [PDF]

Cureus
Sasun AR, Sharath HV.
europepmc   +3 more sources

Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains

Journal of Pathology, 2021
Congenital infection of the central nervous system by human cytomegalovirus (HCMV) is a leading cause of permanent sequelae, including mental retardation or neurodevelopmental abnormalities.
M. Rolland, H. Martin, M. Bergamelli, Y. Sellier, B. Bessières, J. Aziza, A. Benchoua, M. Leruez-Ville, D. Gonzalez-Dunia, S. Chavanas   +9 more
semanticscholar   +1 more source

CENP-F stabilizes kinetochore-microtubule attachments and limits dynein stripping of corona cargoes [PDF]

, 2020
Accurate chromosome segregation demands efficient capture of microtubules by kinetochores and their conversion to stable bioriented attachments that can congress and then segregate chromosomes.
Allan, Andrew D. McAinsh, Auckland, Bancroft, Baumbach, Berto, Berto, Bolhy, Bomont, Chan, Ciossani, Currie, DeSantis, Dix, Dudka, Emanuele Roscioli, Etemad, Faulkner, Feng, Filges, Gama, Gassmann, Gutierrez, Haley, Helena Louise Elvidge Coker, Helgeson, Hoffman, Holt, Howell, Huang, Huis In ’t Veld, Johnson, Kanfer, Kanfer, Klinman, Kuhn, Liu, Magidson, Magidson, Maiato, McEwen, McEwen, McKinley, Meraldi, Monda, Moughamian, Musacchio, Musacchio, Musinipally, Olenick, Olziersky, Pandey, Pereira, Peterka, Philip Auckland, Raaijmakers, Ran, Rattner, Rodriguez-Rodriguez, Roscioli, Sacristan, Samejima, Schmidt, Shao, Shrestha, Siller, Simões, Stehman, Tai, Thrower, Toropova, Vagnoni, Vergnolle, Volkov, Wojcik, Wynne, Wynne, Wynne, Yang, Yi, Zhu   +80 more
core   +1 more source

Exocyst-mediated membrane trafficking of the lissencephaly-associated ECM receptor dystroglycan is required for proper brain compartmentalization

eLife, 2021
To assemble a brain, differentiating neurons must make proper connections and establish specialized brain compartments. Abnormal levels of cell adhesion molecules disrupt these processes.
A. S. Yatsenko, M. Kucherenko, Yuanbin Xie, H. Urlaub, H. Shcherbata   +4 more
semanticscholar   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Lissencephaly: Clinical and neuroimaging features in children

Revista Mexicana de Neurociencia, 2021
Background: The spectrum of lissencephaly (LIS) corresponds to a group of serious brain malformations in the cortex caused by a failure in neuronal migration. The spectrum includes agyria, pachygyria and subcortical band heterotopia (SBH).
Nathaly S. Lapo-Córdova, M. Ruiz-García, B. G. Hernández-Antunez   +2 more
semanticscholar   +1 more source