Related Experiment Video
Updated: Feb 10, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
Published on: October 10, 2022
Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic
Joshua C K Chan1, Stephanie K L Ho, Shirley S W Cheng
1Department of Clinical Genetics, Hong Kong Children's Hospital, Kowloon, Hong Kong.
No abstract available in PubMed .
More Related Videos
07:05Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay
Published on: September 27, 2024
03:07Author Spotlight: Developing a Safer and More Efficient Treatment Protocol for Wasting Marmoset Syndrome (WMS)
Published on: July 12, 2024
Related Concept Videos
Correlation and Causation
Correlation versus Causation
If the dependent variable increases or decreases when the independent variable increases, there is a positive or negative...
Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Histone Variants at the Centromere
Conjugate Addition (1,4-Addition) vs Direct Addition (1,2-Addition)
Conjugate addition results in a thermodynamically stable product. The reaction retains the stronger C=O bond at the expense of the weaker C=C π bond. The process is slow as the β carbon is less electrophilic than the carbonyl carbon.
Direct addition products are...
Line Loss
Line loss impacts power delivery efficiency in a balanced three-phase circuit. The symmetry in such a circuit simplifies the...
Intrinsically Disordered Proteins