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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,...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Other Disorders of Digestive System01:30

Other Disorders of Digestive System

The gastrointestinal tract is susceptible to various disorders. If the lower esophageal sphincter is damaged, stomach acid can flow back into the esophagus, causing irritation and inflammation of the lining. This condition is called gastroesophageal reflux disease (known as heartburn) and may cause chest pain and difficulty swallowing. In the stomach, prolonged use of nonsteroidal anti-inflammatory drugs like aspirin, chronic alcohol consumption, bacterial infections such as Helicobacter...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

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Related Experiment Video

Updated: May 19, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

[Juvenile polyposis syndrome].

P Vasovčák1, L Foretová, A Puchmajerová

  • 1Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha. peter.vasovcak@fnmotol.cz

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti
|August 28, 2012
PubMed
Summary

Juvenile polyposis syndrome (JPS) is an inherited condition causing gastrointestinal polyps and increasing cancer risk. Mutations in SMAD4 and BMPR1A genes are linked to JPS and associated conditions like hereditary hemorrhagic telangiectasia.

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Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
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Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

Related Experiment Videos

Last Updated: May 19, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
28:15

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

Area of Science:

  • Genetics
  • Gastroenterology
  • Oncology

Context:

  • Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder.
  • Characterized by juvenile polyps and gastrointestinal tract (GIT) cancer predisposition.
  • Juvenile polyps have unique mucus-filled cystic glands, distinguishing them from other colorectal cancer syndromes.

Purpose:

  • To describe the genetic basis and clinical features of Juvenile Polyposis Syndrome.
  • To identify key genes associated with JPS.
  • To highlight associated conditions linked to specific gene mutations.

Summary:

  • Germline mutations in SMAD4 and BMPR1A genes are found in 40% of individuals with JPS.
  • These mutations contribute to the development of juvenile polyps.
  • SMAD4 mutations are particularly associated with Hereditary Hemorrhagic Telangiectasia (HHT) and increased gastric polyposis.

Impact:

  • Provides insight into the genetic etiology of JPS.
  • Aids in understanding the cancer predisposition associated with JPS.
  • Facilitates genetic counseling and targeted screening for affected families and individuals.