Related Experiment Video

Updated: Jan 11, 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

14.2K

De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental

Claire Hynes1, Evan Williams1, Doriana Misceo2

  • 1Department of Biochemistry, Memorial University of Newfoundland, 45 Arctic Avenue, St. John's, NL, A1C 5S7, Canada.

Biochimica Et Biophysica Acta. Molecular Basis of Disease
|November 9, 2025
PubMed
Abstract

No abstract available in PubMed .

Keywords:
CSDE1DicerHECW2Neurodevelopmental disordersRBPmiRNA

More Related Videos

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

34.6K
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

26.3K

Related Experiment Videos

Last Updated: Jan 11, 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

14.2K
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

34.6K
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

26.3K

Related Concept Videos

MicroRNAs01:22

MicroRNAs

3.8K
MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
3.8K
MicroRNAs01:22

MicroRNAs

23.9K
MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After...
23.9K

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

Swimming Kinematics and Hydrodynamics of a Subtropical Sea Angel.

Integrative and comparative biology·2026

Complex assembly and activity states as multifaceted protein attributes explaining phenotypic variability.

Molecular systems biology·2026

Towards the construction of a virtual yeast.

Nature·2026

Vocal Cord Paresis and Neuropathic Pain in Infantile Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Case Report.

Case reports in neurology·2026

Twist-controlled modulation of quantum emitters in hexagonal boron nitride.

Science advances·2026

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Circular RNAs and SIRT1 in post-transcriptional regulation and human disease.

Biochimica et biophysica acta. Molecular basis of disease·2026

c-Cbl overexpression alleviates pathological damage in Parkinson's disease by suppressing NLRP3 inflammasome-mediated neuroinflammation via the NF-κB signaling pathway.

Biochimica et biophysica acta. Molecular basis of disease·2026

C12ORF54 mediates lipid droplet delivery to lysosomes with mutation causing childhood-onset metabolic dysfunction-associated steatotic liver disease.

Biochimica et biophysica acta. Molecular basis of disease·2026

PSMD14 promotes hepatocellular carcinoma cell proliferation through E2F4-dependent PHF5A transcription and alternative splicing.

Biochimica et biophysica acta. Molecular basis of disease·2026

Histone lactylation mediates the USP22/HIF-1α positive feedback loop to promote the progression of diabetic retinopathy.

Biochimica et biophysica acta. Molecular basis of disease·2026

Defactinib inhibits focal adhesion kinase to attenuate pancreatic cancer growth via PI3K/AKT pathway modulation.

Biochimica et biophysica acta. Molecular basis of disease·2026

Thiazide Diuretics Are Associated with a Higher Triglyceride-Glucose Index Than Calcium Channel Blockers in Hypertensive Patients.

International journal of general medicine·2026

Shared genetic architecture between major depression and intrinsic brain functional connectome organization.

Progress in neuro-psychopharmacology & biological psychiatry·2026

Chronic Ethanol Exposure Alters the Expression of Genes Associated with GPCR-Related Signaling in the Olfactory Bulb of Male Mice.

Alcohol (Fayetteville, N.Y.)·2026

Activity-dependent DNA methylation and demethylation: epigenetic regulators of learning and memory.

Neurobiology of disease·2026

Exploratory definition of a clinically meaningful change in intracranial EEG features: Analysis of data from a long-term treatment study of the RNS® System.

Epilepsy & behavior : E&B·2026

Gaze fixation stability is a transdiagnostic marker of major psychiatric disorders: A high-density family-based study.

Psychiatry research·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