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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.7K
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...
16.7K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

86
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
86
Incomplete Dominance01:43

Incomplete Dominance

32.6K
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.
32.6K
iPS Cell Differentiation01:22

iPS Cell Differentiation

3.3K
The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
3.3K
Human Genetics01:28

Human Genetics

1.9K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.9K
The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

14.0K
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
14.0K

You might also read

Related Articles

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

Sort by
Same author

CD109 exhibits a dynamic expression pattern in coronary endothelium and endocardial-derived valve mesenchyme during heart development with preserved morphogenesis following endothelial-specific deletion.

Frontiers in cell and developmental biology·2026
Same author

Factors Influencing Participation in Precision Health Research Among Diverse Individuals in South Carolina.

Journal of racial and ethnic health disparities·2026
Same author

Deciphering the sex-biased genetic architecture of systemic sclerosis.

The Lancet. Rheumatology·2026
Same author

Perceptions of precision health research participation: a cognitive interview study.

medRxiv : the preprint server for health sciences·2026
Same author

Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis.

Annals of the rheumatic diseases·2026
Same author

Lipidome changes indicate oxidative stress, inflammation, and specific loss of glycerophosphoserine inflammatory protection in patients with lupus.

Journal of pharmaceutical and biomedical analysis·2025

Related Experiment Video

Updated: Apr 4, 2026

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

21.1K

Genetics of systemic sclerosis: recent advances.

Paula S Ramos1, Richard M Silver, Carol A Feghali-Bostwick

  • 1aDivision of Rheumatology and Immunology, Department of Medicine bDepartment of Public Health Sciences, Medical University of South Carolina, Charleston, South Carolina, USA.

Current Opinion in Rheumatology
|August 29, 2015
PubMed
Summary

Recent genetic studies reveal new systemic sclerosis (SSc) associations, highlighting immune pathway dysregulation and natural selection. Understanding these factors is key for improved SSc diagnosis and management.

More Related Videos

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

8.7K
An Adoptive Transfer Model of Rheumatoid Arthritis in Mice
07:37

An Adoptive Transfer Model of Rheumatoid Arthritis in Mice

Published on: June 6, 2025

1.4K

Related Experiment Videos

Last Updated: Apr 4, 2026

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

21.1K
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

8.7K
An Adoptive Transfer Model of Rheumatoid Arthritis in Mice
07:37

An Adoptive Transfer Model of Rheumatoid Arthritis in Mice

Published on: June 6, 2025

1.4K

Area of Science:

  • Genetics
  • Immunology
  • Systemic Sclerosis (SSc)

Background:

  • Over 40 genetic regions linked to SSc risk, with 15 robust associations.
  • Causal variants and functional mechanisms remain unclear, as do reasons for higher burden in African Americans.
  • Genetic diversity and regulatory variation are increasingly recognized in SSc susceptibility.

Purpose of the Study:

  • Summarize recent advances in SSc genetics.
  • Explore autoimmune disease overlap, natural selection evidence, and functional roles of risk variants.
  • Elucidate mechanisms underlying SSc pathogenesis and genetic associations.

Main Methods:

  • Review of large-scale genetic association studies.
  • Integration of genomic, transcriptomic, and epigenomic datasets.
  • Analysis of cell-type-specific data to identify causal variants.

Main Results:

  • Multiple novel strong and suggestive SSc associations reported.
  • Shared genetic regions with other autoimmune diseases emphasize immune pathway dysregulation.
  • Evidence suggests natural selection contributes to SSc allele maintenance.

Conclusions:

  • Identification of SSc-associated factors and mechanisms is crucial.
  • Understanding genetic contributions will improve SSc diagnosis.
  • Comprehensive knowledge will enhance SSc disease management.