Related Experiment Video

Updated: Jul 17, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

8.7K

A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA: genetic and functional analyses

Wotu Tian1, Li Yao1,2, Guochao Shi3

  • 1Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.

Acta Neurologica Belgica
|September 5, 2023
PubMed
Abstract

No abstract available in PubMed .

Keywords:
DepressionHypoventilationInsomniaParkinsonismPerry syndrome

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.9K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

Related Experiment Videos

Last Updated: Jul 17, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

8.7K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.9K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

21.3K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.3K
RNA Splicing01:32

RNA Splicing

56.5K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
56.5K

Articles linked to this work by shared authors, journal, and citation graph.

Impact of a pharmacist-led optimization strategy for cerebrovascular pharmacotherapy beyond recanalization in acute ischemic stroke: A pre- and post-intervention study.

PloS one·2026

The α2A-adrenergic receptor on Tfh cells amplifies allergic airway inflammation via Akt signaling.

Communications biology·2026

Characteristics and management of asthma from the China Asthma Data Registry Project.

ERJ open research·2026

Serum KIM-1 molecular early warning radar: SERS combined with artificial intelligence for accurate early diagnosis of chronic kidney disease.

Mikrochimica acta·2026

Rapid Identification of Trace Pharmacodynamic Substances in Traditional Chinese Medicine via SERS and Deep Learning.

Biosensors·2026

PML targets and resolves structured protein inclusions to mitigate neurodegeneration.

Nature cell biology·2026

Patient-reported outcomes after surgical treatment of spontaneous intracranial hypotension: a cross-sectional study.

Acta neurologica Belgica·2026

Prevalence of neurological manifestations among pregnant and postpartum women in a tertiary hospital in Egypt: a descriptive cross-sectional study.

Acta neurologica Belgica·2026

Construction of a recurrence risk prediction model for benign paroxysmal positional vertigo.

Acta neurologica Belgica·2026

Adaptive versus conventional deep brain stimulation for bradykinesia in Parkinson's disease: a comparative effectiveness analysis.

Acta neurologica Belgica·2026

Association between cerebrospinal fluid LRRK2 and incident orthostatic hypotension differs by genetic background in Parkinson's disease.

Acta neurologica Belgica·2026

Comparisons between anosmia and ageusia with neurological symptoms and cardiorespiratory fitness among post-COVID-19 individuals: a cross-sectional study.

Acta neurologica Belgica·2026

A guide to selecting high-performing antibodies for Netrin-1 (UniProt ID: O95631) for use in western blot and immunoprecipitation.

F1000Research·2026

Desmin is not ubiquitously expressed in head and neck muscle fibers.

Journal of anatomy·2026

Advances in Multi-Omics Approaches for Biomarker Identification in Human Rotator Cuff Disease: A Systematic Review.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society·2026

The role of impaired mitochondrial function in neurological manifestations of mitochondrial diseases.

Mammalian genome : official journal of the International Mammalian Genome Society·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us