Jove
Visualize
Contact Us
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

Related Concept Videos

lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

10.2K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
10.2K
Neurulation01:30

Neurulation

47.4K
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
47.4K
Sex-linked Disorders01:43

Sex-linked Disorders

111.3K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
111.3K
Alternative RNA Splicing02:18

Alternative RNA Splicing

26.6K
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...
26.6K

You might also read

Related Articles

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

Sort by
Same author

Music Intervention for Anxiety and Pain During Breast Biopsy Procedures: A Comprehensive Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Journal of integrative and complementary medicine·2026
Same author

Letter to the Editor: "Magnesium-Rich Mineral Water Improves Stool Consistency and Bowel Habits in Healthy Subjects: A Randomized Controlled Trial".

Neurogastroenterology and motility·2026
Same author

Blood-nulled late gadolinium enhancement increases sensitivity for subtle basal myocardial scar in mitral valve prolapse with annular disjunction.

Radiology case reports·2026
Same author

Magnetic Particle Imaging for Pulmonary Applications: Technological Advances, Biological Insights, and Clinical Translation.

Bioengineering (Basel, Switzerland)·2026
Same author

A novel loss-of-function variant in DNHD1 linked to human asthenozoospermia.

Clinical and experimental reproductive medicine·2026
Same author

Targeting the tumor microenvironment in glioblastoma: Mechanistic insights, therapeutic strategies, and advances in immunotherapy.

Life sciences·2026

Related Experiment Video

Updated: Apr 2, 2026

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

9.2K

Further Evidence for LRRC7 Gene Involvement in Neurodevelopmental Disorder: A Novel Variant.

Shazia Khan1, Muhammad Bilal2, Hammal Khan3

  • 1Department of Oral and Maxillofacial Surgery, School of Dentistry, University of Alabama at Birmingham, Birmingham, Alabama, USA.

The Journal of Gene Medicine
|March 31, 2026
PubMed
Summary
This summary is machine-generated.

A novel de novo variant in the LRRC7 gene was identified in a patient with neurodevelopmental disorders (NDDs). This genetic finding, associated with reduced LRRC7 expression, offers insights into NDDs.

Keywords:
de novo variantexome sequencingexon 18gene expressionneurodevelopmental disorderrare variant

More Related Videos

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

9.8K
Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
07:43

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

11.9K

Related Experiment Videos

Last Updated: Apr 2, 2026

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

9.2K
Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

9.8K
Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
07:43

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

11.9K

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Neurodevelopmental disorders (NDDs) are complex genetic conditions with limited treatment options.
  • A proband presented with global developmental delay, seizures, failure to thrive, microcephaly, intellectual disability, and hypotonia.

Purpose of the Study:

  • To investigate the genetic cause of NDDs in a proband.
  • To characterize a novel variant in the LRRC7 gene and its potential role in the patient's phenotype.

Main Methods:

  • Exome sequencing (ES) and Sanger sequencing for molecular diagnosis.
  • Reverse-transcriptase quantitative PCR (RT-qPCR) for gene expression analysis.
  • 3D protein modeling to assess structural changes.

Main Results:

  • A novel de novo heterozygous missense variant (c.2660C>T; p.(Pro887Leu)) was identified in the LRRC7 gene.
  • The variant, classified as a variant of uncertain significance (VUS), showed reduced LRRC7 mRNA expression and altered protein structure.
  • The findings suggest the LRRC7 variant contributes to the patient's neurodevelopmental disorder phenotype.

Conclusions:

  • A novel de novo LRRC7 variant is associated with a neurodevelopmental disorder phenotype.
  • Genetic, molecular, and in silico analyses were used to characterize the variant's impact.
  • This study expands the understanding of LRRC7 gene function in neurodevelopment.