Recombinant Human Protein hairless (HR), partial

1. summary of the current knowledge of hairless protein (HR) bioactions, how HR mutations may be contributing to alopecia as well as to cancer PMID: 28543886
2. mammalian Hr is a phosphoprotein which can exert cross-talk with the p53 pathway with important implications for the regulation of cell proliferation and differentiation in tissues such as skin and brain where Hr is highly expressed. PMID: 27355563
3. Mutations identified extend the spectrum of mutations in the HR gene resulting in Atrichia with papular lesions. PMID: 26680117
4. 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. PMID: 26269244
5. we report the first Korean case of Marie Unna hereditary hypotrichosis with a novel heterozygous missense mutation (c.80C>T) in U2HR that has not been documented to date. PMID: 24961381
6. mutation responsible for atrichia with papular lesions in a Pakistani family PMID: 24111842
7. 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 was found in the first case PMID: 24236410
8. 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. PMID: 24261346
9. Findings indicate that hairless (HR) is a H3K9 demethylase that regulates epidermal homeostasis via direct control of its target genes. PMID: 24334705
10. Unliganded VDR upregulates the expression of hairless, the gene product of which acts as a downstream comodulator to feedback-repress DKKL1 and SOSTDC1. PMID: 24190897
11. novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis PMID: 23293922
12. data demonstrates an acceleration of HR sequence evolution in human branch and suggests that the ability of HR protein to mediate postnatal hair-cycling has been altered in the course of human evolution. PMID: 22355551
13. We have identified a novel heterozygous missense mutation in a Chinese patient with Marie Unna hereditary hypotrichosis. PMID: 22155146
14. deletion mutants of hairless indicate that the JmjC domain contributes to the co-repressor activity PMID: 21982945
15. DNA sequence analysis of the HR gene revealed three novel mutations including two nonsense (p.Cys690X, p.Arg819X) and a missense (p.Pro1157Arg) in four families with congenital atrichia with papular lesions. PMID: 21919222
16. The index patient displayed the typical pattern of hair loss and was found to carry the disease-causing c.3G>A (p.M1I) U2HR mutation PMID: 20659777
17. Mutations in the gene HR coding for the hairless protein are associated with an autosomal recessive form of alopecia universalis PMID: 21272494
18. Marie Unna hereditary hypotrichosis is caused by a novel mutation (U2HR) in the human hairless transcript. PMID: 20163456
19. 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 PMID: 20814945
20. the first time that a mutation in U2HR has been identified in families from the Middle East PMID: 20055871
21. Hr and VDR interact via multiple protein-protein interfaces, catalyzing histone demethylation to effect chromatin remodeling and repress the transcription of VDR target genes that control the hair cycle. PMID: 20512927
22. study reports an Iranian family with atrichia with papular lesions due to 3-bp deletion (c.1839-1841delATG) mutations in the HR gene PMID: 19747330
23. A mutation in the 5'-UTR of HR as identified in patients with Marie Unna hereditary hypotrichosis. PMID: 19897589
24. Mutation of the Hr gene results in congenital hair loss in both mice and men PMID: 20087431
25. Mutations in the human hairless gene have been reported in families with recessive universal congenital alopecia. PMID: 11966690
26. first demonstration of compound heterozygous mutations underlying atrichia with papular lesions (APL). PMID: 12271294
27. Hairless protein functions as a corepressor of vitamin D receptor to block calcitriol action on keratinocytes. PMID: 16269453
28. In the present report of two families with congenital atrichia, the second exonic insertion mutation in the human HR gene and the first mutation in exon 12 are described. PMID: 17372750
29. all of the pathogenic HR mutants bound VDR but exhibited reduced binding to histone deacetylase 1 (HDAC1), suggesting that the impaired corepressor activity is due in part to defective interactions with HDACs PMID: 17609203
30. Three novel nonsense mutations in the hairless (HR) gene in atrichia with papular lesions are reported. PMID: 17869066
31. two novel heterozygous mutations in exons 3 and 8 of the hairless gene PMID: 17958788
32. Two mutations identified in this study are novel mutations in the HR gene and extend the body of evidence implicating the hairless gene family in the pathogenesis of human skin disorders. PMID: 18164595
33. Mutations in the human hairless gene on chromosome 8p12 have been implicated in atrichia with papular lesions. Here, we report two novel heterozygous mutations in an Australian family and a novel homozygous mutation in 2 Arab siblings. PMID: 18709303
34. A pathogenic initiation codon mutation in U2HR, an inhibitory upstream ORF in the 5' UTR of the gene encoding the human hairless homolog (HR). PMID: 19122663
35. Case Report: A novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna Hereditary Hypotrichosis. PMID: 19540091
36. The full-length HR repressed VDR-mediated transactivation, but HRDelta1072-1126 failed to suppress VDR-mediated transactivation. PMID: 19819974

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HGNC: 5172

OMIM: 146550

KEGG: hsa:55806

STRING: 9606.ENSP00000370826

UniGene: Hs.272367