Related Experiment Video

Updated: Mar 26, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia

Grazia M S Mancini1, Rachel Schot2, Marie Claire Y de Wit2

  • 1From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands. g.mancini@erasmusmc.nl.

Neurology
|February 5, 2016
PubMed
Summary

No abstract available in PubMed .

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K

Related Concept Videos

Destabilization of Microtubules01:45

Destabilization of Microtubules

The destabilization of microtubules can occur during different stages of the microtubule lifecycle, such as nucleation or elongation. It can take place at either end of the microtubule or in the microtubule lattices as a whole. The lifespan of individual microtubules within a cell varies according to the cell type and stage of the cell cycle. During interphase, the lifespan of the microtubule is about 30 minutes, while during cell division, it is about 15 minutes. In axonal microtubules of...
3.9K
Microtubule Instability02:17

Microtubule Instability

Microtubules are hollow cylindrical filaments having a diameter of approximately 25 nm and a length that varies from 200 nm to 25 μm. GTP-bound tubulin subunits form αβ-heterodimers for microtubule assembly. These core building blocks interact longitudinally, polymerizing into protofilaments. The protofilaments then interact with one another through lateral bonding forces to form stable cylindrical microtubules. These cylindrical filaments are dynamic as they undergo repeated...
6.4K