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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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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,...
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Cystic Fibrosis: Pathogenesis01:23

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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.
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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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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.
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Related Experiment Video

Updated: Aug 31, 2025

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
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Juvenile polyposis syndrome: An overview.

Arianna Dal Buono1, Federica Gaiani2, Laura Poliani3

  • 1Division of Gastroenterology, Department of Gastroenterology, Humanitas Research Hospital - IRCCs, Rozzano, Milan, Italy.

Best Practice & Research. Clinical Gastroenterology
|August 21, 2022
PubMed
Summary

Juvenile polyposis syndrome (JPS) is an autosomal dominant precancerous condition with a high risk of gastrointestinal cancers. Early diagnosis and endoscopic screening are crucial for cancer risk reduction and management.

Keywords:
Colorectal cancerHereditary syndromeJuvenile polyposisPolyposis

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Area of Science:

  • Gastroenterology
  • Genetics
  • Oncology

Background:

  • Juvenile polyposis syndrome (JPS) is a rare, autosomal dominant disorder characterized by numerous hamartomatous juvenile polyps in the gastrointestinal tract.
  • JPS significantly increases the risk of gastrointestinal cancers, with an estimated cumulative risk of colorectal cancer (CRC) between 39-68%.

Purpose of the Study:

  • To review the clinical and genetic features of Juvenile polyposis syndrome.
  • To outline the diagnostic and surveillance strategies for managing JPS patients and reducing cancer risk.

Main Methods:

  • Literature review summarizing clinical presentations, genetic underpinnings, and management guidelines for JPS.
  • Analysis of diagnostic criteria, differential diagnoses (e.g., Peutz-Jeghers, Cowden syndrome), and recommended screening protocols.

Main Results:

  • JPS diagnosis involves identifying numerous juvenile polyps and excluding other hamartomatous polyposis syndromes.
  • Pathogenic variants in BMPR1A or SMAD4 genes are the primary genetic causes of JPS.
  • Extra-intestinal manifestations, including cutaneous and skeletal findings, can be associated with JPS.

Conclusions:

  • JPS requires vigilant clinical suspicion and genetic testing for accurate diagnosis.
  • Proactive endoscopic screening and surveillance are essential for early detection and management of gastrointestinal cancers in JPS patients.