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

Phases of Wound Repair01:28

Phases of Wound Repair

5.9K
Following injury, the integrity of the injured tissues must be reestablished. For example, in skin tissue, wound repair involves coordination among resident skin cells, blood mononuclear cells, extracellular matrix, growth factors, and cytokines to complete the healing cascade.
Formation of Blood Clot
In case of deep injuries, trauma to blood vessels results in blood loss. In the meantime, phospholipids released from the ruptured endothelial cellular membrane are converted into arachidonic...
5.9K
Skin Cancer01:30

Skin Cancer

3.1K
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
3.1K
Clinical Applications of Epidermal Stem Cells01:19

Clinical Applications of Epidermal Stem Cells

2.7K
Epidermal stem cells (EpiSCs) are mainly located at the basal layer of the epidermis. These cells repair minor injuries of the skin and replace dead skin cells. However, EpiSCs’ cannot heal severe wounds such as major burns or those from diabetes or hereditary disorders. In such cases, culturing the epidermal stem cells from the patient is possible and has yielded successful treatment options, such as laboratory-grown skin grafts. These grafts are synthesized using a patient’s own...
2.7K
Renewal of Skin Epidermal Stem Cells01:12

Renewal of Skin Epidermal Stem Cells

2.5K
The skin is divided into epidermis, dermis, and hypodermis, the skin's outermost, middle, and inner layers. The human epidermal layer regularly undergoes renewal, where old, dead cells are replaced by new cells. Epidermal stem cells or EpiSCs divide and differentiate to restore the lost cells. For the renewal process, some EpiSCs continuously self-renew. In contrast, few others differentiate into transit-amplifying cells, which later form prickle or spinous cells, followed by granular...
2.5K

You might also read

Related Articles

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

Sort by
Same author

Reticulated Erythematous Mucinosis Preceding the Clinical Diagnosis of Hepatitis C Virus-Related Hepatocellular Carcinoma.

The Journal of dermatology·2026
Same author

Multilayered control of mRNA delivery to cell protrusions drives localized mini-cytoplasm establishment for stress-induced cell activation.

Nature communications·2026
Same author

Diverse clinical manifestations of porokeratosis caused by somatic variants and promoter hypermethylation of FDFT1.

The British journal of dermatology·2026
Same author

Washcloth Withdrawal and Pruritus: A Single-Center Retrospective Observational Study.

The Journal of dermatology·2026
Same author

Primary Cutaneous Adult T-cell Leukaemia/Lymphoma Presenting as Generalized Purpura.

Acta dermato-venereologica·2026
Same author

Low Sensitivity of Jolt Accentuation of Headache in Screening for Herpes Zoster-Associated Meningitis: A Retrospective Study of 70 Cases From a Single Institute.

Journal of general and family medicine·2025

Related Experiment Video

Updated: Jun 4, 2025

Visualizing Scar Development Using SCAD Assay - An Ex-situ Skin Scarring Assay
07:40

Visualizing Scar Development Using SCAD Assay - An Ex-situ Skin Scarring Assay

Published on: April 28, 2022

2.8K

Advanced phasing techniques in congenital skin diseases.

Ken Natsuga1

  • 1Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

The Journal of Dermatology
|December 26, 2024
PubMed
Summary

Long-read sequencing advances phasing for autosomal recessive diseases. This technology aids in gene therapy design and understanding complex genetic conditions, despite current technical challenges.

Keywords:
epidermolysis bullosalong‐read sequencingnanopore sequencingrevertant mosaicism

More Related Videos

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus
05:38

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus

Published on: May 16, 2025

24
The Three-Dimensional Human Skin Reconstruct Model: a Tool to Study Normal Skin and Melanoma Progression
11:02

The Three-Dimensional Human Skin Reconstruct Model: a Tool to Study Normal Skin and Melanoma Progression

Published on: August 3, 2011

49.5K

Related Experiment Videos

Last Updated: Jun 4, 2025

Visualizing Scar Development Using SCAD Assay - An Ex-situ Skin Scarring Assay
07:40

Visualizing Scar Development Using SCAD Assay - An Ex-situ Skin Scarring Assay

Published on: April 28, 2022

2.8K
Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus
05:38

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus

Published on: May 16, 2025

24
The Three-Dimensional Human Skin Reconstruct Model: a Tool to Study Normal Skin and Melanoma Progression
11:02

The Three-Dimensional Human Skin Reconstruct Model: a Tool to Study Normal Skin and Melanoma Progression

Published on: August 3, 2011

49.5K

Area of Science:

  • Genomics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Phasing is essential for diagnosing and managing autosomal recessive diseases by identifying linked alleles on homologous chromosomes.
  • Accurate haplotype determination is critical for personalized medicine and genetic disorder management.

Purpose of the Study:

  • To review the application of advanced long-read sequencing technologies in phasing.
  • To highlight the utility of these methods in complex clinical scenarios and gene therapy design.

Main Methods:

  • Discussion of low-coverage long-read sequencing.
  • Exploration of nanopore Cas9-guided long-read sequencing.
  • Analysis of adaptive sampling techniques for phasing.

Main Results:

  • Long-read sequencing significantly improves haplotype accuracy.
  • Clinical vignettes demonstrate phasing's importance in gene therapy for recessive dystrophic epidermolysis bullosa and revertant mosaicism.

Conclusions:

  • Phasing using long-read sequencing shows great promise for clinical applications.
  • Overcoming challenges like low enrichment efficiency and nanopore error rates is key for future development.