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Lethal Alleles02:41

Lethal Alleles

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
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When a rod is made of different materials or has various cross-sections, it must be divided into parts that meet the necessary conditions for determining the deformation. These parts are each characterized by their internal force, cross-sectional area, length, and modulus of elasticity. These parameters are then used to compute the deformation of the entire rod.
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Related Experiment Video

Updated: Jan 25, 2026

A Data Integration Workflow to Identify Drug Combinations Targeting Synthetic Lethal Interactions
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Lethal multiple pterygium syndrome.

Farzeen Shuaib Mohtisham1,2, Adel Sallam1,2, Aiman Shawli2,3

  • 1Department of Pediatrics, Neonatology Division, National Guard Hospital Affairs, King AbdulAziz Medical City, Jeddah, Saudi Arabia.

BMJ Case Reports
|May 10, 2019
PubMed
Summary

Lethal multiple pterygium syndrome is a rare genetic disorder affecting skin, muscles, and skeleton. Genetic analysis confirmed a double homozygous mutation in a presented lethal multiple pterygium syndrome case.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Science

Background:

  • Multiple pterygium syndrome (MPS) is a rare, severe genetic disorder.
Keywords:
congenital disordersgenetic screening / counsellingmusculoskeletal syndromesneonatal intensive care

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  • Characterized by congenital joint contractures, skin webbing (pterygia), and skeletal abnormalities.
  • Lethal variants of MPS present significant diagnostic and management challenges.