Fortuitous Discovery of Hereditary Xanthinuria

Related Experiment Video

Updated: Dec 5, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

8.0K

Asmaa Biaz, Sophia Tazi, Sanae Bouhsain

    Clinical Laboratory
    |October 19, 2020
    PubMed

    More Related Videos

    Primordial Germ Cell Transplantation for CRISPR/Cas9-based Leapfrogging in Xenopus05:34

    Primordial Germ Cell Transplantation for CRISPR/Cas9-based Leapfrogging in Xenopus

    Published on: February 1, 2018

    8.6K
    Author Spotlight: Exploring Retinal Regeneration Mechanisms in the Xenopus Frog09:29

    Author Spotlight: Exploring Retinal Regeneration Mechanisms in the Xenopus Frog

    Published on: October 13, 2023

    2.0K

    Related Concept Videos

    X-linked Traits01:19

    X-linked Traits

    In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
    57.7K
    Inborn Errors of Metabolism01:20

    Inborn Errors of Metabolism

    Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
    600
    X-Inactivation01:58

    X-Inactivation

    The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
    40.7K
    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,...
    42.6K
    Pedigree Analysis01:35

    Pedigree Analysis

    Overview
    88.2K
    Lethal Alleles02:41

    Lethal Alleles

    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...
    17.4K