CUGC for Stromme syndrome and CENPF-related disorders

Isabel Filges1, Petter Stromme2

  • 1Medical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research, University Hospital Basel and University of Basel, Basel, Switzerland. Isabel.Filges@unibas.ch.

Abstract

Related Concept Videos

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome08:31

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

An EEG experimental protocol is designed to clarify the interplay between conscious and non-conscious representations of emotional faces in patients with Asperger's syndrome. The technique suggests that patients with Asperger's syndrome have deficits in non-conscious representation of emotional faces, but have comparable performance in conscious representation with healthy...
14.4K
Intrinsically Disordered Proteins02:18

Intrinsically Disordered Proteins

Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
19.2K
Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Acute Wallenberg's syndrome can be misdiagnosed as a non-stroke disease, such as auditory vertigo. Thus, careful neurological examination, which is sometimes difficult for non-neurologists, is necessary for precise diagnosis. Here, we present a simple, rapid, noninvasive, and cost-effective method for detection of acute Wallenberg's syndrome using portable...
6.9K
Executive Function in Autism Spectrum Disorder10:02

Executive Function in Autism Spectrum Disorder

Source: Laboratories of Jonas T. Kaplan and Sarah I. Gimbel—University of Southern California
Attention, working-memory, planning, impulse control, inhibition, and mental flexibility are important components of human cognition that are often referred to as executive functions. Autism spectrum disorder is a developmental disorder that is characterized by impairments in social interaction, communication, and repetitive behaviors. It is a disorder that lasts a lifetime, and is thought to...
19.2K
In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

This protocol outlines a methodology for recapitulating Down syndrome (DS) impaired neurogenesis using DS human iPSCs. The protocol identified biphasic cell cycle defect as the cause of impaired neurogenesis in Down syndrome. It provides a robust platform for understanding cellular and molecular mechanisms underlying the abnormal neurogenesis associated with DS.
984
Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

This protocol describes the generation of integration free iPSCs from fetal tissue fibroblasts through delivery of episomal plasmids by nucleofection followed by description of methods used for iPSC characterization and neuronal...
3.5K