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 Experiment Videos

Kindler syndrome.

G H S Ashton1

  • 1Genetic Skin Disease Group, St John's Institute of Dermatology, Division of Skin Sciences, The Guy's, King's College and St Thomas' Hospitals' Medical School, London, UK. gabrielle.ashton@kcl.ac.uk

Clinical and Experimental Dermatology
|February 28, 2004
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience.

The British journal of dermatology·2006
Same author

Retrospective diagnosis of Kindler syndrome in a 37-year-old man.

Clinical and experimental dermatology·2005
Same author

An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene.

Clinical and experimental dermatology·2005
Same author

Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins.

Clinical and experimental dermatology·2005
Same author

Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.

Clinical and experimental dermatology·2005
Same author

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.

The British journal of dermatology·2003
Same journal

Real-World Outcomes of Stapokibart-Based Combination Therapy for Bullous Pemphigoid: A Single-Center Retrospective Cohort.

Clinical and experimental dermatology·2026
Same journal

A second case of recessive mosaicism in ABCA12 causing a congenital unilateral epidermal nevus.

Clinical and experimental dermatology·2026
Same journal

Dermatopathology.

Clinical and experimental dermatology·2026
Same journal

Persistent Bilateral Palmar Hyperkeratotic Papules in an Adolescent Male.

Clinical and experimental dermatology·2026
Same journal

Shuddering Attacks in an Infant Treated with Atenolol for Infantile Hemangioma: A Previously Unreported Adverse Effect.

Clinical and experimental dermatology·2026
Same journal

Male genital fixed drug eruption: a systematic review.

Clinical and experimental dermatology·2026
See all related articles

Kindler syndrome, a rare skin disorder, stems from mutations in the KIND1 gene, impacting cell adhesion. This discovery highlights kindlin-1

Area of Science:

  • Genetics and Dermatology
  • Molecular Biology
  • Cell Biology

Background:

  • Kindler syndrome is a rare autosomal recessive skin fragility disorder.
  • Characterized by blistering, photosensitivity, and poikiloderma.
  • Previous research indicated basement membrane abnormalities.

Purpose of the Study:

  • To review the clinical, molecular, and cellular pathology of Kindler syndrome.
  • To highlight the role of the KIND1 gene and its protein product, kindlin-1.
  • To emphasize the novel mechanism of actin-extracellular matrix linkage defects.

Main Methods:

  • Review of clinical case studies.
  • Analysis of immunofluorescence and gene expression data.
  • Examination of cell biology studies on kindlin-1 function.

Related Experiment Videos

Main Results:

  • Kindler syndrome is caused by loss-of-function mutations in the KIND1 gene.
  • Kindlin-1 is crucial for actin cytoskeleton attachment to the extracellular matrix via focal contacts.
  • This represents a defect in actin-extracellular matrix linkage, distinct from other genodermatoses.

Conclusions:

  • Kindler syndrome provides a model for understanding actin-matrix adhesion.
  • Kindlin-1 plays a vital role in maintaining skin integrity and cell adhesion.
  • The findings offer insights into photosensitivity mechanisms in genodermatoses.