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GlossaryU2HR Mutation

genetic alteration affecting hair growth regulation, potentially causing alopecia

The U2HR mutation refers to a specific genetic alteration in the U2HR (U2 Hairless Repressor) gene, which is involved in the regulation of hair growth. This mutation can disrupt normal hair follicle function, potentially leading to conditions like alopecia, where hair loss occurs. For professionals, it's important to note that the U2HR gene plays a role in the signaling pathways that control hair follicle cycling and differentiation.

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research Marie Unna Hereditary Hypotrichosis: Identification of a U2HR Mutation in the Family from the Original 1925 Report

14 citations, April 2011 in “Journal of the American Academy of Dermatology”

Researchers found a gene mutation responsible for a rare hair loss condition.

research Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation

11 citations, September 2010 in “American Journal of Medical Genetics - Part A”

A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.

Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

181 citations, January 2009 in “Nature Genetics”

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

research Marie-Unna Hereditary Hypotrichosis

4 citations, January 2014 in “International Journal of Trichology”

A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.

research Odd-Looking Hair and Progressive Alopecia in Mother and Son

May 2014 in “JAMA Dermatology”

Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.

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