| Impact of a High Coverage Vaccination Rate on Human Papillomavirus Infection Prevalence in Young Women: A Cross-sectional Study. | Impact of a High Coverage Vaccination Rate on Human Papillomavirus Infection Prevalence in Young Women: A Cross-sectional Study.
Saldanha C, Vieira-Baptista P, Costa M, Silva AR, Picão M, Sousa C. | 08/21/2021 |
| These results suggest that transcriptional repression or mutation of HR may contribute to glioblastoma pathogenesis, which uncovers a role of HR in brain and suggests that modulating HR activity in glioblastoma may be a therapeutic strategy. | Hairless regulates p53 target genes to exert tumor suppressive functions in glioblastoma.
Brook L, Palade P, Maatough A, Whitfield GK, Emeterio LS, Hsieh D, Hsieh JC. | 02/29/2020 |
| Study in a large, five-generation Han Chinese family with several patients presenting with Marie Unna hereditary hypotrichosis (MUHH) and multiple familial trichoepithelioma (MFT) revealed that the c.1A>G mutation in HR (U2HR) was present in all MUHH patients. No pathogenic variants were found in EPS8L3 or CYLD in any family members but FABP12 (rs536105592 G>A) was identified in the patients with both MUHH and MFT. | Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family.
Huang Y, Cai C, Ren L, Cui C, Zhang X, Liu W. | 08/31/2019 |
| summary of the current knowledge of hairless protein (HR) bioactions, how HR mutations may be contributing to alopecia as well as to cancer | Human Hairless Protein Roles in Skin/Hair and Emerging Connections to Brain and Other Cancers.
Maatough A, Whitfield GK, Brook L, Hsieh D, Palade P, Hsieh JC. | 06/2/2018 |
| 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. | The Mammalian Hairless Protein as a DNA Binding Phosphoprotein.
Brook L, Whitfield GK, Hsieh D, Bither RD, Hsieh JC. | 11/4/2017 |
| Mutations identified extend the spectrum of mutations in the HR gene resulting in Atrichia with papular lesions. | Disease causing homozygous variants in the human hairless gene.
Mehmood S, Jan A, Raza SI, Ahmad F, Younus M, Irfanullah, Shahi S, Ayub M, Khan S, Ahmad W. | 07/1/2017 |
| 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. | Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis.
Zhong Z, Zhong M, Lu Y, Lu L, Wang J, Xu D, Wang F, Xu G, Chen J. | 12/17/2016 |
| 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. | Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.
Yun SK, Cho YG, Song KH, Hwang SR, Kim Yoon SJ, Choi KW, Kim HU, Park J. | 07/25/2015 |
| mutation responsible for atrichia with papular lesions in a Pakistani family | Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family.
Ahmed MS, Rauf S, Naeem M, Khan MN, Mir A. | 04/18/2015 |
| 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 | Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes.
Li Q, Liu LH, Chang RX, Pan GB, Chen G, Gao M, Cai LQ, Wang PG, Pimentel JD, Pittelkow MR, Yang S, Zhang XJ. | 12/6/2014 |
| 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. | Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review.
Yang J, Liang Y, Zeng K, Huang L, Zheng M. | 10/4/2014 |
| Findings indicate that hairless (HR) is a H3K9 demethylase that regulates epidermal homeostasis via direct control of its target genes. | Hairless is a histone H3K9 demethylase.
Liu L, Kim H, Casta A, Kobayashi Y, Shapiro LS, Christiano AM., Free PMC Article | 06/7/2014 |
| Unliganded VDR upregulates the expression of hairless, the gene product of which acts as a downstream comodulator to feedback-repress DKKL1 and SOSTDC1. | Vitamin D receptor-mediated control of Soggy, Wise, and Hairless gene expression in keratinocytes.
Hsieh JC, Estess RC, Kaneko I, Whitfield GK, Jurutka PW, Haussler MR., Free PMC Article | 03/15/2014 |
| novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis | Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis.
Ito T, Shimomura Y, Ogai M, Sakabe J, Tokura Y. | 02/15/2014 |
| 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. | Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle.
Abbasi AA., Free PMC Article | 08/31/2013 |
| We have identified a novel heterozygous missense mutation in a Chinese patient with Marie Unna hereditary hypotrichosis. | Identification of a novel U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis.
Zhou C, Zang D, Ma X, Huang H, Jin Y, Zhang J. | 05/19/2012 |
| deletion mutants of hairless indicate that the JmjC domain contributes to the co-repressor activity | Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function.
Mi Y, Zhang Y, Shen YF. | 01/21/2012 |
| 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. | Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.
Azeem Z, Wasif N, Basit S, Razak S, Waheed RA, Islam A, Ayub M, Kafaitullah, Kamran-ul-hassan Naqvi S, Ali G, Ahmad W. | 12/10/2011 |
| 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 | Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report.
Redler S, Kruse R, Eigelshoven S, Hanneken S, Refke M, Wen Y, Zhang X, Cichon S, Betz RC, Nöthen MM. | 06/4/2011 |
| Mutations in the gene HR coding for the hairless protein are associated with an autosomal recessive form of alopecia universalis | Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
Nucara S, Colao E, Mangone G, Baudi F, Fabiani F, Nocera D, Passafaro G, Longo T, Laria AE, Malatesta P, Amato R, Trapasso F, Perrotti N. | 05/14/2011 |
| Marie Unna hereditary hypotrichosis is caused by a novel mutation (U2HR) in the human hairless transcript. | Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript.
Ramot Y, Horev L, Smolovich I, Molho-Pessach V, Zlotogorski A. | 01/8/2011 |
| 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 | Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation.
Mansur AT, Elcioglu NH, Redler S, Serdar ZA, Cetinel S, Betz RC, Akarsu NA. | 01/8/2011 |
| the first time that a mutation in U2HR has been identified in families from the Middle East | Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.
Düzenli S, Redler S, Müller M, Polat M, Dogruer D, Pasternack SM, Betz RC. | 10/4/2010 |
| 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. | Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle.
Hsieh JC, Slater SA, Whitfield GK, Dawson JL, Hsieh G, Sheedy C, Haussler CA, Haussler MR., Free PMC Article | 08/23/2010 |
| study reports an Iranian family with atrichia with papular lesions due to 3-bp deletion (c.1839-1841delATG) mutations in the HR gene | A novel deletion mutation in the human hairless (HR) gene in an Iranian family with atrichia and papular lesions.
Balighi K, Lajevardi V, Moeineddin F, Jelani M, Tamizifar B, Nikoo A, Javed Q, Ahmad W, Parvaneh N. | 05/3/2010 |