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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 Two Females With Hair Loss

July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft”

A mother and daughter have a rare genetic hair loss disorder with no effective treatment.

research Clinical Course of the First Japanese Family with Marie Unna Hereditary Hypotrichosis: A Follow-Up Report

May 2018 in “European Journal of Dermatology”

The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.

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