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Related Concept Videos

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...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
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.
The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

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...

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Related Experiment Video

Updated: May 27, 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

Genetics of systemic sclerosis: an update.

Jasper C A Broen1, Marieke J H Coenen, Timothy R D J Radstake

  • 1Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Current Rheumatology Reports
|November 22, 2011
PubMed
Summary

Recent genetic research in systemic sclerosis (SSc) has advanced our understanding of disease susceptibility. Key findings include a large genome-wide association study and exploration of gene interactions and functional validation.

Related Experiment Videos

Last Updated: May 27, 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

Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Systemic sclerosis (SSc) is an autoimmune disease impacting skin and internal organs.
  • Vasculopathy, immune cell activation, and fibrosis are key SSc characteristics.
  • Genetic factors are increasingly recognized in SSc susceptibility.

Purpose of the Study:

  • To review recent advancements in systemic sclerosis genetics research.
  • To highlight key findings from the past year.
  • To discuss the integration of genetic discoveries with functional studies.

Main Methods:

  • Review of recent scientific literature on SSc genetics.
  • Analysis of a large genome-wide association study (GWAS).
  • Examination of studies on gene-gene interactions and functional validation.

Main Results:

  • A significant genome-wide association study has been published.
  • Further insights into gene-gene interactions influencing SSc risk have emerged.
  • Genetic findings are increasingly being validated through functional models.

Conclusions:

  • Recent genetic research has significantly advanced the understanding of SSc susceptibility.
  • The integration of GWAS, gene interactions, and functional studies is crucial for future progress.
  • Continued genetic investigation holds promise for novel therapeutic targets in SSc.