Research Topics
Genomes and Genes | Y ShimomuraSummaryAffiliation: Niigata University Country: Japan Publications
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Detail Information
Publications
Congenital hair loss disorders: rare, but not too rareYutaka Shimomura
Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
J Dermatol 39:3-10. 2012..Identification of the causative genes for hair loss disorders directly demonstrates crucial roles of these genes in HF morphogenesis, development and/or hair growth in humans...
Human hair keratin-associated proteinsYutaka Shimomura
Department of Dermatology, Niigata University School of Medicine, Asahimachi Dori, Niigata 951 8510, Japan
J Investig Dermatol Symp Proc 10:230-3. 2005..Furthermore, several human KAP genes have size polymorphisms that are mainly because of variable numbers of cysteine-rich repeat segments, and the patterns of some of these size variants are distinct between different human populations...- Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal moleculesY Shimomura
Department of Dermatology, Niigata University School of Medicine, Asahimachi Dori, Niigata 951 8510, Japan
Br J Dermatol 153:1026-30. 2005..Previous studies have clearly shown a crucial role for LEKTI in skin barrier formation... - A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR geneYutaka Shimomura
Department of Dermatology, Niigata University School of Medicine, Niigata, Japan
J Invest Dermatol 123:649-55. 2004..Our findings indicate that both alleles of EDAR are non-functional in our patient, resulting in the HED phenotype... - Characterization of human keratin-associated protein 1 family membersYutaka Shimomura
Department of Dermatology, Niigata University School of Medicine, Niigata, Japan
J Investig Dermatol Symp Proc 8:96-9. 2003..The sum of the data analyzed suggests that human keratin-associated protein 1 family genes may have arisen mainly through gene duplication of the cysteine-repeat motifs during evolution... - Gene expression of Sh3d19, a novel adaptor protein with five Src homology 3 domains, in anagen mouse hair folliclesYutaka Shimomura
Department of Dermatology, Niigata University School of Medicine, Asahimachi Dori, Niigata 951 8510, Japan
J Dermatol Sci 31:43-51. 2003..Sh3yl1, which contains one Src homology (SH) 3 domain, has been previously identified from mouse skin and considered to play an important role in hair follicle formation by interacting with other proteins... - Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene familyYutaka Shimomura
Department of Dermatology, Niigata University School of Medicine, Asahimachi Dori, Japan
J Biol Chem 277:45493-501. 2002..In addition, by means of a pan-hKAP1 antibody, we confirm the previous hKAP1 family mRNA localization data in the middle to upper cortex of the human anagen hair follicle... - Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosisYutaka Shimomura
Department of Dermatology, Niigata University School of Medicine, Niigata, Japan
J Invest Dermatol 126:1281-5. 2006..Here we present the observation that mutations in the DSG4 gene can cause monilethrix-like congenital hypotrichosis. Based on our findings, we propose that LAH and monilethrix could overlap... - A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 geneS Suzuki
Department of Dermatology, Niigata University School of Medicine, Asahimachi-dori, Niigata 951-8510, Japan
Br J Dermatol 155:838-40. 2006 - A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) geneM Farooq
Laboratory of Genetic Skin, Niigata University Graduate School of Medical and Dental Sciences, 1 757 Asahimachi dori, Chuo Ku, Niigata 951 8510, Japan
Br J Dermatol 165:425-31. 2011..Our results further underscore the crucial role of the DSG4 gene in differentiation of the hair shaft in humans... - A novel type II cytokeratin, mK6irs, is expressed in the Huxley and Henle layers of the mouse inner root sheathN Aoki
Department of Dermatology, Niigata University School of Medicine, Asahimachi Dori, Niigata, Japan
J Invest Dermatol 116:359-65. 2001.... - Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasiaH Fujikawa
Laboratory of Genetic Skin Diseases Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
Br J Dermatol 168:629-33. 2013..A de novo heterozygous mutation in the tumour necrosis factor receptor-associated factor 6 gene (TRAF6) was recently identified in a patient with HED, while functional consequences resulting from the mutation remained unknown... - Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene familyNaoyuki Kariya
Department of Dermatology, Niigata University School of Medicine, Niigata, Japan
J Invest Dermatol 124:1111-8. 2005..Taken together, the data indicate that the polymorphic alleles of the KAP4 genes may have arisen through intragenic deletion and/or duplication of sequences encoding the repeat structures during evolution... 
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani originHyunmi Kim
Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street VC15 204A, New York, NY 10032, United States
J Dermatol Sci 48:207-11. 2007..In addition to total atrichia, APL patients also present with papules and follicular cysts filled with cornified material. Mutations in the Hairless (HR) gene have been shown to underlie APL...- P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicleYutaka Shimomura
Department of Dermatology, Columbia University, New York, NY 10032, USA
Development 135:743-53. 2008..We conclude that P-cadherin is a newly defined transcriptional target gene of p63, with a crucial role in hair follicle morphogenesis as well as the AER during limb bud outgrowth in humans, whereas it is not required for either in mice... - Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hairYutaka Shimomura
Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC15 204a, New York, New York 10032, USA
Nat Genet 40:335-9. 2008..Our findings indicate that disruption of P2RY5 underlies ARWH and, more broadly, uncover a new gene involved in determining hair texture in humans... - hKAP1.6 and hKAP1.7, two novel human high sulfur keratin-associated proteins are expressed in the hair follicle cortexYutaka Shimomura
Department of Dermatology, Niigata University School of Medicine, Asahimachi Dori, Niigata, Japan
J Invest Dermatol 118:226-31. 2002..RNA in situ hybridization studies of human anagen hair follicles using a conserved probe for these four keratin-associated protein 1 members demonstrated the expression of this group in the differentiated portions of the hair cortex... - Autoantibodies to DFS70/LEDGF are increased in alopecia areata patientsMiyako Okamoto
Division of Connective Tissue Disease and Autoimmunity, Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
J Autoimmun 23:257-66. 2004..The elevated anti-DFS70 antibodies in alopecia patients and the localization of the DFS70 in the ORS suggest that autoantibodies against the DFS70 are related to the etiology in a certain population of AA...