Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11233844 | PMC |
| http://dx.doi.org/10.1002/mdc3.14050 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.
Mov Disord Clin Pract
July 2024
U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Zeb2 drives the formation of CD11c atypical B cells to sustain germinal centers that control persistent infection.
Sci Immunol
March 2024
Division of Immunology and Infectious Disease, John Curtin School of Medical Research, The Australian National University, Canberra, Australia.
CD11c atypical B cells (ABCs) are an alternative memory B cell lineage associated with immunization, infection, and autoimmunity. However, the factors that drive the transcriptional program of ABCs have not been identified, and the function of this population remains incompletely understood. Here, we identified candidate transcription factors associated with the ABC population based on a human tonsillar B cell single-cell dataset.
View Article and Find Full Text PDFPathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.
Eur J Med Genet
December 2023
Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan. Electronic address:
High-throughput sequencing has identified vast numbers of variants in genetic disorders. However, the significance of variants at the exon-intron junction remains controversial. Even though most cases of Mowat-Wilson syndrome (MOWS) are caused by heterozygous loss-of-function variants in ZEB2, the pathogenicity of variants at exon-intron junction is often indeterminable.
View Article and Find Full Text PDFAdhesion dynamics in the neocortex determine the start of migration and the post-migratory orientation of neurons.
Sci Adv
July 2021
Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Institute of Cell and Neurobiology, Charitéplatz 1, 10117 Berlin, Germany.
The neocortex is stereotypically organized into layers of excitatory neurons arranged in a precise parallel orientation. Here we show that dynamic adhesion both preceding and following radial migration is essential for this organization. Neuronal adhesion is regulated by the Mowat-Wilson syndrome-associated transcription factor Zeb2 (Sip1/Zfhx1b) through direct repression of independent adhesion pathways controlled by Neuropilin-1 (Nrp1) and Cadherin-6 (Cdh6).
View Article and Find Full Text PDFMowat-Wilson syndrome presenting with fever-associated seizures.
Epileptic Disord
December 2017
Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul.
Mowat-Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. Diagnosis of MWS can be challenging to neurologists, because its manifestations are diverse and the spectrum of genetic mutations are broad. Here, we describe two patients with MWS who initially showed atypical forms of fever-triggered seizures during childhood.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!