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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,...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Genetic Lingo01:11

Genetic Lingo

Overview
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...

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Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

American journal of medical genetics. Part A·2011
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Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.

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Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.

Audiology & neuro-otology·2009
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Function and expression pattern of nonsyndromic deafness genes.

Current molecular medicine·2009
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Novel human pathological mutations. Gene symbol: GPR98. Disease: Usher syndrome 2C.

Human genetics·2009
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Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.

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Related Experiment Video

Updated: Jun 29, 2026

Dextran Labeling and Uptake in Live and Functional Murine Cochlear Hair Cells
05:55

Dextran Labeling and Uptake in Live and Functional Murine Cochlear Hair Cells

Published on: February 8, 2020

Gene symbol: TMC1. Disease: Deafness

Nele Hilgert1

  • 1University of Antwerp, Centre of Medical Genetics, Universiteitsplein, 1, 2610 Antwerp, Belgium. nele.hilgert@ua.ac.be

Human Genetics
|October 11, 2008
PubMed
Summary

No abstract available in PubMed .

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