A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

May 2012 in “ Archives of Dermatological Research ”

Katalin Farkas, Nikoletta Nagy, Ágnes Kinyó, Lajos Kemény, Márta Széll

HR gene missense mutation Marie Unna Hereditary Hypotrichosis 1 alopecia universalis heterozygous wild type sequence non-coding region direct sequencing mutation MUHH1 total hair loss genetic variation normal gene sequence non-coding DNA gene sequencing

Studysummary This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

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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”

This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.

research Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript

14 citations , July 2010 in “Experimental Dermatology”

A new mutation in the HR gene causes hair loss in a specific family.

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”

In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.