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GlossaryTRPS1 gene

gene involved in bone, hair, and tissue development

The TRPS1 gene provides instructions for making a protein that plays a crucial role in the development of bones, hair, and other tissues. Mutations in this gene can lead to trichorhinophalangeal syndrome, a condition characterized by distinctive facial features, sparse hair, and abnormalities in the fingers and toes.

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research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene

9 citations, May 2014 in “BMC medical genetics”

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

research A Frameshift Mutation in the TRPS1 Gene Showing a Mild Phenotype of Trichorhinophalangeal Syndrome Type 1

1 citations, December 2018 in “Journal of genetic medicine”

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I

January 2013 in “International Journal of Trichology”

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice

60 citations, August 2008 in “Human molecular genetics online/Human molecular genetics”

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

research Genetics of Structural Hair Disorders

17 citations, November 2012 in “Journal of Investigative Dermatology”

The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.

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in Progress Pictures 139 upvotes 3 months ago

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