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HR encodes a protein that is involved in hair growth.
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We have identified two recurrent missense mutations in U2HR c.1A>T (p. Met1?) and c.104A>G (p.*35Wext1263*) in two Chinese Han families with Marie Unna Hereditary Hypotrichosis.
study reports two cases of Marie Unna hereditary hypotrichosis; a novel nonsense mutation of U2HR was identified in the second case, but no causative mutation in U2HR or EPS8L3 (show EPS8L3 Antibodies) was found in the first case
we have identified a mutation, c.74C>T, in a Chinese family with MUHH, which has been previously described in a family from Hungary. Our findings therefore indicate the prevalence of this mutation in diverse populations.
Findings indicate that hairless (HR) is a H3K9 demethylase (show MBD2 Antibodies) that regulates epidermal homeostasis via direct control of its target genes.
Unliganded VDR (show CYP27B1 Antibodies) upregulates the expression of hairless, the gene product of which acts as a downstream comodulator to feedback-repress DKKL1 (show DKKL1 Antibodies) and SOSTDC1 (show SOSTDC1 Antibodies).
deletion mutants of hairless indicate that the JmjC domain contributes to the co-repressor activity
Mutations in the gene HR coding for the hairless protein are associated with an autosomal recessive form of alopecia universalis
Marie Unna hereditary hypotrichosis is caused by a novel mutation (U2HR) in the human hairless transcript.
study reports a family with Marie Unna hereditary hypotrichosis (MUHH) from Turkey; identified the mutation c.2T > C (M1T) in all affected family members; concluded that there may be considerable clinical variations in MUHH
Hr and VDR (show CYP27B1 Antibodies) interact via multiple protein-protein interfaces, catalyzing histone demethylation to effect chromatin remodeling and repress the transcription of VDR (show CYP27B1 Antibodies) target genes that control the hair cycle.
HR regulates expression of genes in the MSX2 regulatory pathway, which explains abnormal hair follicle formation in Hr(Hp)/Hr(Hp) skin.
Hairless is required for adipocyte differentiation.
Hr loss results in a state of uncontrolled epidermal proliferation that promotes tumor development, and Hr mutant mice should no longer be considered merely hairless 'wild-type' mice
regulation of Dlx3 (show DLX3 Antibodies) by HR affects the IRS (show IARS Antibodies) keratin expression, thus modulating the formation of IRS (show IARS Antibodies) of hair follicle.
Foxe1 (show FOXE1 Antibodies) mRNA expression was suppressed in HR-overexpressing skin, as well as in HR-expressing keratinocytes.
Hr evokes an anti-apoptotic response by disrupting a p53 (show TP53 Antibodies) dependent pathway involving Bcl2 (show BCL2 Antibodies) family members.
hairless phenotype in CR rats is not allelic with mouse hairless
This thyroid hormone (show PTH Antibodies)-regulated corepressor associates with histone deacetylases in neonatal rat brain.
HR regulates the precise timing of Wnt (show WNT2 Antibodies) signaling required for hair follicle regeneration.
TRalpha (show GNAT1 Antibodies) is the major thyroid hormone receptor (show THRA Antibodies) regulating hairless expression in the cerebellum of young mouse pups
This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by multiple regulatory ORFs that exist upstream of the primary ORF. Mutations in one of these upstream ORFs, U2HR, cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene.
, hairless homolog (mouse)
, hairless protein
, protein hairless-like
, hairless homolog