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

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Sex-linked Disorders01:43

Sex-linked Disorders

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.
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Pedigree Analysis01:35

Pedigree Analysis

Overview

You might also read

Related Articles

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

Sort by
Same author

FIGNL1 inhibits homologous recombination in BRCA2 deficient cells by dissociating RAD51 filaments.

Science (New York, N.Y.)·2025
Same author

DNA combing versus DNA spreading and the separation of sister chromatids.

The Journal of cell biology·2024
Same author

DNA Combing <i>versus</i> DNA Spreading and the Separation of Sister Chromatids.

bioRxiv : the preprint server for biology·2023
Same author

The Effect of Body Fat Distribution on Systemic Sclerosis.

Journal of clinical medicine·2022
Same author

Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis.

NPJ genomic medicine·2022
Same author

Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes.

Annals of the rheumatic diseases·2021

Related Experiment Video

Updated: Jun 7, 2026

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice
08:09

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice

Published on: March 24, 2017

The genetics of scleroderma.

Javier Martin1, Carmen Fonseca

  • 1CSIC, Instituto de Parasitología y Biomedicina López Neyra, Avenida Conocimiento s/n 18100 Armilla, Granada, Spain. martin@ipb.csic.es

Current Rheumatology Reports
|October 21, 2010
PubMed
Summary
This summary is machine-generated.

Genetic studies reveal key immune-regulating genes linked to scleroderma (systemic sclerosis) susceptibility. Further research aims to identify unique markers defining this autoimmune disease.

More Related Videos

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Related Experiment Videos

Last Updated: Jun 7, 2026

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice
08:09

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice

Published on: March 24, 2017

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Autoimmune Diseases

Background:

  • Recent genetic studies highlight the significant role of genetic factors in scleroderma (systemic sclerosis) pathogenesis.
  • Large-scale case-control studies have identified multiple susceptibility genes, many involved in immune regulation.

Purpose of the Study:

  • To summarize recent advancements in understanding the genetic basis of scleroderma.
  • To explore the shared genetic underpinnings between scleroderma and other autoimmune diseases.
  • To identify future research directions for uncovering scleroderma-specific genetic markers.

Main Methods:

  • Review of recent candidate gene and genome-wide association studies (GWAS).
  • Analysis of large case-control series for genetic marker associations.
  • Comparative analysis of genetic associations across different autoimmune diseases.

Main Results:

  • Consistent associations found between multiple genes and scleroderma susceptibility.
  • Several identified genes play crucial roles in immune system regulation.
  • Overlap in susceptibility genes suggests shared autoimmune mechanisms with other diseases.

Conclusions:

  • Genetic factors, particularly those influencing immune regulation, are critical in scleroderma pathogenesis.
  • A common autoimmune etiology may underlie scleroderma and other autoimmune conditions.
  • Future research must focus on confirming associations and discovering unique scleroderma markers to define its distinct phenotype.