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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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The Retinoblastoma Gene01:20

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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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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
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Sex-linked Disorders01:43

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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.
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Lethal Alleles02:41

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Agouti: A Lethal Allele
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Related Experiment Video

Updated: Jul 11, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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[The Schwartz-Jampel syndrome].

J Andoni Urtizberea1, Gianmarco Severa1, Juliette Ropars1

  • 1Institut de Myologie, Paris, France.

Medecine Sciences : M/S
|November 17, 2023
PubMed
Summary

Schwartz-Jampel syndrome (SJS) is a rare genetic disorder causing muscle stiffness and skeletal issues. Diagnosis involves clinical suspicion confirmed by molecular testing, with current treatments focusing on symptom management.

Area of Science:

  • Genetics
  • Molecular Biology
  • Rare Diseases

Context:

  • Schwartz-Jampel syndrome (SJS) is an ultra-rare autosomal recessive genetic disorder.
  • Characterized by myotonic manifestations and skeletal abnormalities.
  • Prevalence is higher in consanguineous populations.

Purpose:

  • To provide a comprehensive overview of Schwartz-Jampel syndrome.
  • To highlight the role of the HSPG2 gene in SJS.
  • To discuss diagnostic approaches and current treatment limitations.

Summary:

  • SJS presents with myotonia and bone/cartilage defects, inherited in an autosomal recessive pattern.
  • Identification of the HSPG2 gene has improved understanding and classification of SJS.
  • Diagnosis relies on clinical presentation confirmed by molecular biology.

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Impact:

  • Enhanced understanding of SJS pathophysiology.
  • Improved diagnostic accuracy through genetic confirmation.
  • Highlights the need for further research into effective SJS treatments.