2021/10/25 更新

写真a

ハヤシ リヨウタ
林 良太
HAYASHI Ryota
所属
医歯学総合病院 皮膚科 助教
職名
助教
外部リンク

学位

  • 博士(医学) ( 2017年3月   新潟大学 )

研究分野

  • ライフサイエンス / 皮膚科学  / 遺伝性皮膚疾患、毛髪疾患

経歴(researchmap)

  • 新潟大学医歯学総合病院   皮膚科   助教

    2017年4月 - 現在

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  • 新潟大学医歯学総合病院   皮膚科   医員

    2012年4月 - 2017年3月

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  • 新潟大学医歯学総合病院   初期研修医

    2010年4月 - 2012年3月

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経歴

  • 新潟大学   医歯学総合病院 皮膚科   助教

    2017年4月 - 現在

学歴

  • 新潟大学   医歯学総合研究科   分子細胞医学

    2014年4月 - 2017年3月

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    国名: 日本国

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所属学協会

留学歴

  • コロンビア大学   ポストドクトラルフェロー

    2018年5月 - 2019年9月

 

論文

  • Extra-palmoplantar skin lesions of palmoplantar keratoderma with deafness caused by a mitochondrial mutation. 国際誌

    Tatsuya Katsumi, Ryota Hayashi, Rei Yokoyama, Osamu Ansai, Shuji Izumi, Tatsuya Yamagishi, Arata Horii, Riichiro Abe

    The Journal of dermatology   2021年7月

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  • Acquired ichthyosis disclosing intravascular large B-cell lymphoma. 国際誌

    Risa Hagiwara, Satoru Shinkuma, Rei Yokoyama, Osamu Ansai, Ryota Hayashi, Takayuki Katagiri, Riichiro Abe

    The Journal of dermatology   2021年7月

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  • The role of IL-8 in skin lesions of a patient with erythema elevatum diutinum. 国際誌

    H Kimura, R Hayashi, Y Tsuchida, A Hasegawa, Y Kabata, M Tamura, R Abe

    Journal of the European Academy of Dermatology and Venereology : JEADV   35 ( 6 )   e396-e399   2021年6月

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    記述言語:英語  

    DOI: 10.1111/jdv.17179

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  • Alopecia areata and psoriasis vulgaris associated with Turner syndrome. 国際誌

    Rei Yokoyama, Ryota Hayashi, Osamu Ansai, Akito Hasegawa, Satoru Shinkuma, Yutaka Shimomura, Riichiro Abe

    The Australasian journal of dermatology   2021年5月

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    記述言語:英語  

    DOI: 10.1111/ajd.13597

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  • Evidence for a dominant-negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I. 国際誌

    Shuichiro Yasuno, Osamu Ansai, Ryota Hayashi, Sawako Nakamura, Yutaka Shimomura

    The Journal of dermatology   2021年4月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    Hereditary angioedema (HAE) is a rare condition characterized by episodic local edema involving various organs, which can be life-threatening in some cases. Among the three subtypes of the disease, HAE types I and II are known to be caused by heterozygous mutations in the SERPING1 gene encoding C1 inhibitor (C1INH). Although a number of mutations in the SERPING1 gene have been identified to date, the mechanisms how these mutations cause HAE are not completely understood. We herein performed detailed in vitro studies for a missense SERPING1 gene mutation p.S150F which we recently identified in a Japanese patient with HAE type I. We showed that the p.S150F-mutant C1INH was stably expressed within the cultured cells, while it was not secreted into the medium at all. Furthermore, we demonstrated that the mutant C1INH significantly prevented secretion of wild-type C1INH. Finally, the results suggested that the wild-type protein was not only retained but also degraded within the cytoplasm through interacting with the mutant protein. Our study clearly revealed a dominant-negative effect of the p.S150F-mutant C1INH against the wild-type C1INH.

    DOI: 10.1111/1346-8138.15930

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  • Pregnancy-triggered atypical extrapalmoplantar erythematous hyperkeratotic lesions in palmoplantar keratoderma with mitochondrial mutations. 国際誌

    O Ansai, R Hayashi, A Nakamura, A Arimatsu-Sato, A Hasegawa, A Yuki, A Fujimoto, N Hama, S Shinkuma, Y Shimomura, R Abe

    Journal of the European Academy of Dermatology and Venereology : JEADV   35 ( 4 )   e269-e272   2021年4月

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    記述言語:英語  

    DOI: 10.1111/jdv.17020

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  • Targeting the Jak/Signal Transducer and Activator of Transcription 3 Pathway with Ruxolitinib in a Mouse Model of Recessive Dystrophic Epidermolysis Bullosa-Squamous Cell Carcinoma. 国際誌

    Joanna Jacków, Avina Rami, Ryota Hayashi, Corey Hansen, Zongyou Guo, Dominick DeLorenzo, Alberto Pappalardo, David Alvarez Cespedes, Arianna L Kim, Rolando Perez-Lorenzo, David M Owens, Angela M Christiano

    The Journal of investigative dermatology   141 ( 4 )   942 - 946   2021年4月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    DOI: 10.1016/j.jid.2020.08.022

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  • Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene. 国際誌

    Mami Murata, Ryota Hayashi, Yoshio Kawakami, Shin Morizane, Yutaka Shimomura

    The Journal of dermatology   48 ( 3 )   392 - 396   2021年3月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    It has recently been shown that bi-allelic mutations in the lanosterol synthase (LSS) gene, which was originally reported as a causative gene for congenital cataracts, underlie a non-syndromic form of hypotrichosis. Furthermore, it has also been revealed that mutations in the LSS gene can cause syndromic forms of hypotrichosis. To date, however, clear genotype-phenotype correlations have not completely been characterized. In this study, we identified two Japanese patients who had severe congenital hypotrichosis without any other associated findings. Their scalp hairs were extremely short and thin, and were able to be plucked easily. Observation of the plucked hairs showed aberrantly-miniaturized anagen hair follicles. Genetic analysis demonstrated that both patients carried bi-allelic mutations in the LSS gene in a compound heterozygote state. Our findings further underscore the crucial roles of the LSS gene in hair follicle development and hair growth in humans.

    DOI: 10.1111/1346-8138.15679

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  • Characteristic pathological features of keratinocyte death in a case of Stevens-Johnson syndrome manifested by an immune checkpoint inhibitor. 国際誌

    H Kimura, A Hasegawa, I Takei, T Kawai, Y Tsuchida, Y Abe, R Hayashi, N Hama, R Abe

    Journal of the European Academy of Dermatology and Venereology : JEADV   35 ( 2 )   e142-e145   2021年2月

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    記述言語:英語  

    DOI: 10.1111/jdv.16872

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  • Intracytoplasmic abnormality of corneocytes in circumscribed palmar or plantar hypokeratosis: ultrastructural observations. 国際誌

    T Kawai, Y Kabata, S Shinkuma, M Oginezawa, R Hayashi, M Hayatsu, R Abe

    Journal of the European Academy of Dermatology and Venereology : JEADV   34 ( 11 )   e709-e711   2020年11月

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    記述言語:英語  

    DOI: 10.1111/jdv.16518

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  • Functional analysis of keratin filament network formation indicates clinical severity of epidermolysis bullosa simplex. 国際誌

    O Ansai, S Shinkuma, R Hayashi, K Tomii, T Deguchi, A Aizawa, H Fujiwara, Y Shimomura, R Abe

    Journal of the European Academy of Dermatology and Venereology : JEADV   34 ( 10 )   e613-e616   2020年10月

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    記述言語:英語  

    DOI: 10.1111/jdv.16495

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  • RIP3 as a diagnostic and severity marker for Stevens-Johnson syndrome and toxic epidermal necrolysis. 国際誌

    Akito Hasegawa, Satoru Shinkuma, Ryota Hayashi, Natsumi Hama, Hideaki Watanabe, Manao Kinoshita, Youichi Ogawa, Riichiro Abe

    The journal of allergy and clinical immunology. In practice   8 ( 5 )   1768 - 1771   2020年5月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    DOI: 10.1016/j.jaip.2020.01.006

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  • Refractory Bullous Pemphigoid Improved by Discontinuation of Phenytoin as an CYP3A4 Inducer. 国際誌

    Rei Yokoyama, Ryota Hayashi, Yukie Umemori, Ami Arimatsu, Akihiko Yuki, Riichiro Abe

    Acta dermato-venereologica   100 ( 8 )   adv00108   2020年4月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    DOI: 10.2340/00015555-3472

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  • Erythema dyschromicum perstans with a Wagyu beef-like appearance on dermoscopy. 国際誌

    K Tomii, A Fujimoto, R Yokoyama, Y Kabata, S Fujita, R Hayashi, R Abe

    Journal of the European Academy of Dermatology and Venereology : JEADV   34 ( 3 )   e141-e142   2020年3月

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    記述言語:英語  

    DOI: 10.1111/jdv.16096

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  • CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells. 国際誌

    Joanna Jacków, Zongyou Guo, Corey Hansen, Hasan E Abaci, Yanne S Doucet, Jung U Shin, Ryota Hayashi, Dominick DeLorenzo, Yudai Kabata, Satoru Shinkuma, Julio C Salas-Alanis, Angela M Christiano

    Proceedings of the National Academy of Sciences of the United States of America   2019年12月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin disorder caused by mutations in the COL7A1 gene encoding type VII collagen (C7). The spectrum of severity depends on the type of mutation in the COL7A1 gene. C7 is the major constituent of anchoring fibrils (AFs) at the basement membrane zone (BMZ). Patients with RDEB lack functional C7 and have severely impaired dermal-epidermal stability, resulting in extensive blistering and open wounds on the skin that greatly affect the patient's quality of life. There are currently no therapies approved for the treatment of RDEB. Here, we demonstrated the correction of mutations in exon 19 (c.2470insG) and exon 32 (c.3948insT) in the COL7A1 gene through homology-directed repair (HDR). We used the clustered regulatory interspaced short palindromic repeats (CRISPR) Cas9-gRNAs system to modify induced pluripotent stem cells (iPSCs) derived from patients with RDEB in both the heterozygous and homozygous states. Three-dimensional human skin equivalents (HSEs) were generated from gene-corrected iPSCs, differentiated into keratinocytes (KCs) and fibroblasts (FBs), and grafted onto immunodeficient mice, which showed normal expression of C7 at the BMZ as well as restored AFs 2 mo postgrafting. Safety assessment for potential off-target Cas9 cleavage activity did not reveal any unintended nuclease activity. Our findings represent a crucial advance for clinical applications of innovative autologous stem cell-based therapies for RDEB.

    DOI: 10.1073/pnas.1907081116

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  • Generalized pustular psoriasis complicated with bullous pemphigoid. 国際誌

    Yuko Tsuchida, Ryota Hayashi, Osamu Ansai, Mami Nakajima, Mahoko Oginezawa, Toru Kawai, Rei Yokoyama, Tokiko Deguchi, Natsumi Hama, Satoru Shinkuma, Riichiro Abe

    International journal of dermatology   58 ( 3 )   e66-e67   2019年3月

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    記述言語:英語  

    DOI: 10.1111/ijd.14332

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  • Two cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene. 国際誌

    Mami Nakajima, Ryota Hayashi, Satoru Shinkuma, Mio Watanabe, Yohya Shigehara, Yutaka Shimomura, Riichiro Abe

    The Journal of dermatology   46 ( 1 )   e21-e22   2019年1月

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  • CADM1 is a diagnostic marker in early-stage mycosis fungoides: Multicenter study of 58 cases. 国際誌

    Akihiko Yuki, Satoru Shinkuma, Ryota Hayashi, Hiroki Fujikawa, Taisuke Kato, Erina Homma, Yohei Hamade, Osamu Onodera, Masao Matsuoka, Hiroshi Shimizu, Hiroaki Iwata, Riichiro Abe

    Journal of the American Academy of Dermatology   79 ( 6 )   1039 - 1046   2018年12月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    BACKGROUND: Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma. Early-stage MF patches or plaques often resemble inflammatory skin disorders (ISDs), including psoriasis and atopic dermatitis. Cell adhesion molecule 1 gene (CADM1), which was initially identified as a tumor suppressor gene in human non-small cell lung cancer, has been reported as a diagnostic marker for adult T-cell leukemia/lymphoma. OBJECTIVE: We investigated CADM1 expression in MF neoplastic cells, especially during early stages, and evaluated its usefulness as a diagnostic marker for MF. METHODS: We conducted a retrospective study by using immunohistochemical staining and confirmed the expression of CADM1 in MF. In addition, we compared CADM1 messenger RNA expression in microdissected MF samples and ISD samples. RESULTS: In the overall study period, 55 of 58 MF samples (94.8 %) stained positive for CADM1. None of the 50 ISD samples showed positive reactivity (P < .0001). We found CADM1 messenger RNA expression in the intradermal lymphocytes of patients with MF but not in those of patients with an ISD. LIMITATIONS: We did not conduct a validation study for MF cases in other institutions. CONCLUSIONS: CADM1-positive cells can be identified in early stages with fewer infiltrating cells and may be useful as a diagnostic marker for early-stage MF.

    DOI: 10.1016/j.jaad.2018.06.025

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  • A novel WRN mutation identified in a patient with Werner syndrome and acute generalized exanthematous pustulosis. 国際誌

    Toru Kawai, Ryota Hayashi, Natsumi Hama, Satoru Shinkuma, Atsushi Fujimoto, Yutaka Shimomura, Riichiro Abe

    European journal of dermatology : EJD   28 ( 4 )   553 - 554   2018年8月

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    記述言語:英語  

    DOI: 10.1684/ejd.2018.3354

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  • PR3-ANCA: a potential biomarker of disease activity for propylthiouracil-induced ANCA-associated vasculitis. 国際誌

    Akito Hasegawa, Atsushi Fujimoto, Daisuke Yuki, Ryota Hayashi, Atsuko Aizawa, Takako Ito, Riichiro Abe

    European journal of dermatology : EJD   28 ( 4 )   530 - 531   2018年8月

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    記述言語:英語  

    DOI: 10.1684/ejd.2018.3314

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  • A heterozygous mutation in the SAM domain of p63 underlies a mild form of ectodermal dysplasia. 国際誌

    Toru Kawai, Ryota Hayashi, Hiroyuki Nakai, Yutaka Shimomura, Mazen Kurban, Lamiaa Hamie, Hiroki Fujikawa, Atsushi Fujimoto, Riichiro Abe

    Journal of dermatological science   90 ( 3 )   360 - 363   2018年6月

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  • Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review. 国際誌

    Yukari Mizukami, Ryota Hayashi, Daisuke Tsuruta, Yutaka Shimomura, Koji Sugawara

    The Journal of dermatology   45 ( 5 )   613 - 617   2018年5月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    Autosomal recessive woolly hair is a relatively rare hereditary hair disorder characterized by sparse, short, curly hair. This condition is known to be caused by mutations in the LIPH gene, LPAR6 gene or KRT25 gene. In the Japanese population, most patients with autosomal recessive woolly hair carry one of two founder mutations in the LIPH gene, c.736T>A (p.Cys246Ser) or c.742C>A (p.His248Asn). However, occasionally, individuals with this condition carry compound heterozygous mutations, typically one founder mutation and another mutation. In this study, we describe a patient with a compound heterozygous mutation in the LIPH gene at c.736T>A and c.1095-3C>G. The latter mutation created a novel splice site. This was the fourth splice site mutation to be described in the LIPH gene. Furthermore, we performed an in vitro transcription assay in cultured cells, and demonstrated that the c.1095-3C>G mutation led to a frame-shift, which created a premature termination codon at the protein level (p.Glu366Ilefs*7). Finally, we summarized the mutations previously reported for the LIPH gene. Our findings provide further clues as to the molecular basis of autosomal recessive woolly hair.

    DOI: 10.1111/1346-8138.14257

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  • Delayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes. 国際誌

    Hironori Niizeki, Ryota Hayashi, Yasuhiro Naiki, Kazue Yoshida, Ryo Tanaka, Ai Shimizu, Hiroshi Terashima, Nobutaka Isogawa, Riichiro Abe, Yutaka Shimomura

    The Journal of dermatology   45 ( 3 )   376 - 378   2018年3月

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  • A case of non-episodic angioedema with eosinophilia induced by influenza vaccine. 国際誌

    Ryota Hayashi, Naoko Shimomura, Michihiro Hosojima, Akari Sakai, Yohya Shigehara, Riichiro Abe

    European journal of dermatology : EJD   27 ( 5 )   554 - 555   2017年10月

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    記述言語:英語  

    DOI: 10.1684/ejd.2017.3123

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  • Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family. 国際誌

    Kazue Yoshida, Ryota Hayashi, Yutaka Shimomura, Hironori Niizeki

    The Journal of dermatology   44 ( 8 )   e184-e185   2017年8月

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  • Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. 国際誌

    Yukiko Shigematsu, Ryota Hayashi, Kazue Yoshida, Ai Shimizu, Masaya Kubota, Manabu Komori, Yutaka Shimomura, Hironori Niizeki

    The Journal of dermatology   44 ( 6 )   e111-e112   2017年6月

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  • Cross-reactivity of cephalosporins: allergic immediate hypersensitivity to ceftriaxone in a cefcapene pivoxil-sensitized patient. 国際誌

    Tokiko Deguchi, Yutaka Shimomura, Ryota Hayashi, Mari Orime, Katsuhiro Tomiyama, Riichiro Abe

    European journal of dermatology : EJD   27 ( 2 )   187 - 189   2017年4月

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    記述言語:英語  

    DOI: 10.1684/ejd.2016.2938

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  • A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia. 国際誌

    S Khalil, R Hayashi, L Daou, S A Staiteieh, O Abbas, C Bergqvist, G Nemer, Y Shimomura, M Kurban

    Clinical and experimental dermatology   42 ( 3 )   313 - 315   2017年4月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    The Wnt signalling pathway is a major pathway involved in the embryogenic development of the various organs of the body. Appropriate signalling in this pathway relies on the proper functioning of several proteins including the R-spondin family of proteins. Deactivating mutations in R-spondin 4 are associated with anonychia. We present the case of a 26-year-old man presenting with anonychia of the 20 nails, which had been present since birth. Using genetic studies, we identified a novel nonsense mutation, c.164-165TC>AA, characterized by two consecutive mismatch bases. To our knowledge, this mutation is the first to be reported in R-spondin 4 in a Lebanese population. Evaluating new patients with anonychia provides fruitful clinical and molecular findings.

    DOI: 10.1111/ced.13052

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  • Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis. 国際誌

    S Khalil, L Daou, R Hayashi, O Abbas, G Nemer, D Saadeh, Y Shimomura, M Kurban

    Journal of the European Academy of Dermatology and Venereology : JEADV   31 ( 3 )   e142-e144   2017年3月

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    記述言語:英語  

    DOI: 10.1111/jdv.13882

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  • First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24. 国際誌

    Ryota Hayashi, Kazue Yoshida, Riichiro Abe, Hironori Niizeki, Yutaka Shimomura

    Journal of dermatological science   85 ( 1 )   63 - 65   2017年1月

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  • Case of pemphigus herpetiformis with immunoglobulin G autoantibodies against desmocollin-3. 国際誌

    Osamu Ansai, Yutaka Shimomura, Atsushi Fujimoto, Akari Sakai, Yuko Tsuchida, Ryota Hayashi, Yohya Shigehara, Natsumi Hama, Riichiro Abe

    The Journal of dermatology   44 ( 1 )   104 - 105   2017年1月

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  • A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis. 国際誌

    F Bitar, T Najjar, R Hayashi, G Nemer, Y Shigehara, L Hamie, O Abbas, A G Kibbi, Y Shimomura, M Kurban

    Journal of the European Academy of Dermatology and Venereology : JEADV   30 ( 12 )   e217-e219   2016年12月

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    記述言語:英語  

    DOI: 10.1111/jdv.13549

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  • Expression studies of nectin-1 in human hair follicles and identification of a p63-responsive element in the NECTIN1 promoter. 国際誌

    Ryota Hayashi, Riichiro Abe, Yutaka Shimomura

    Journal of dermatological science   84 ( 2 )   221 - 224   2016年11月

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  • Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. 国際誌

    Yohya Shigehara, Shujiro Okuda, Georges Nemer, Adele Chedraoui, Ryota Hayashi, Fadi Bitar, Hiroyuki Nakai, Ossama Abbas, Laetitia Daou, Riichiro Abe, Maria Bou Sleiman, Abdul Ghani Kibbi, Mazen Kurban, Yutaka Shimomura

    Human molecular genetics   25 ( 20 )   4484 - 4493   2016年10月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of hereditary skin disorder characterized by an aberrant cornification of the epidermis. ARCI is classified into a total of 11 subtypes (ARCI1-ARCI11) based on their causative genes or loci. Of these, the causative gene for only ARCI7 has not been identified, while it was previously mapped on chromosome 12p11.2-q13.1. In this study, we performed genetic analyses for three Lebanese families with ARCI, and successfully determined the linkage interval to 9.47 Mb region on chromosome 12q13.13-q14.1, which was unexpectedly outside of the ARCI7 locus. Whole-exome sequencing and the subsequent Sanger sequencing led to the identification of missense mutations in short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7) gene on chromosome 12q13.3, i.e. two families shared an identical homozygous mutation c.599T > C (p.Ile200Thr) and one family had another homozygous mutation c.214C > T (p.Arg72Trp). In cultured cells, expression of both the mutant SDR9C7 proteins was markedly reduced as compared to wild-type protein, suggesting that the mutations severely affected a stability of the protein. In normal human skin, the SDR9C7 was abundantly expressed in granular and cornified layers of the epidermis. By contrast, in a patient’s skin, its expression in the cornified layer was significantly decreased. It has previously been reported that SDR9C7 is an enzyme to convert retinal into retinol. Therefore, our study not only adds a new gene responsible for ARCI, but also further suggests a potential role of vitamin A metabolism in terminal differentiation of the epidermis in humans.

    DOI: 10.1093/hmg/ddw277

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  • Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa. 国際誌

    Ryota Hayashi, Ken Natsuga, Mika Watanabe, Hiroaki Iwata, Satoru Shinkuma, Akiko Ito, Yukiko Masui, Masaaki Ito, Yutaka Shimomura

    The Journal of investigative dermatology   136 ( 1 )   320 - 3   2016年1月

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    記述言語:英語  

    DOI: 10.1038/JID.2015.370

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  • Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient. 国際誌

    Yukina Yoshinaga, Hiroyuki Nakai, Ryota Hayashi, Akiko Ito, Naoyuki Kariya, Masaaki Ito, Yutaka Shimomura

    The Journal of dermatology   43 ( 1 )   85 - 91   2016年1月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    Cutaneous leiomyoma is a benign skin tumor that originates from the smooth muscle, such as the arrector pili muscle of the hair follicles. Familial cases with multiple cutaneous leiomyomas exist, which typically show an autosomal dominant inheritance trait. Most patients with the disease are known to carry heterozygous germ line mutations in the fumarate hydratase (FH) gene and can be complicated by tumors in internal organs, especially uterine leiomyoma and renal cell cancer in high frequency. In this study, we identified a Japanese male patient with multiple cutaneous leiomyomas and found a novel heterozygous splice site mutation, c.738 + 2T>A, in the FH gene of the patient, which was unexpectedly inherited from his unaffected father. Further analysis demonstrated loss of heterozygosity in the tumor tissue, which resulted in a hemizygote state of the mutant allele. Expression studies with the tumor tissue showed that the mutation led to skipping of exon 5 at mRNA levels, which was predicted to cause an in-frame deletion of FH protein (p.Ser186_Gln246del). The protein structure analysis strongly suggested that the deletion would severely disrupt the conformation of the FH protein including the substrate-binding domain, and thus would severely affect the expression and the function. Our findings further disclose the molecular basis of multiple cutaneous leiomyomas and also provide precious information to the mutation carriers in the family for an early diagnosis of renal cell cancer in the future.

    DOI: 10.1111/1346-8138.13019

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  • Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. 国際誌

    Kazue Yoshida, Ryota Hayashi, Hideki Fujita, Masaya Kubota, Mai Kondo, Yutaka Shimomura, Hironori Niizeki

    The Journal of dermatology   42 ( 7 )   715 - 9   2015年7月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process.

    DOI: 10.1111/1346-8138.12882

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  • Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis. 国際誌

    Taisuke Ito, Yutaka Shimomura, Ryota Hayashi, Yoshiki Tokura

    The Journal of dermatology   42 ( 7 )   752 - 3   2015年7月

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  • Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6. 国際誌

    Ryota Hayashi, Asuka Inoue, Yasushi Suga, Junken Aoki, Yutaka Shimomura

    Journal of dermatological science   78 ( 3 )   197 - 205   2015年6月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    BACKGROUND: Woolly hair (WH) is a hair shaft anomaly characterized by tightly-curled hair and is frequently associated with hypotrichosis. Non-syndromic forms of WH can show either autosomal dominant or recessive inheritance. The autosomal recessive form of WH (ARWH) is caused by mutations in either lipase H (LIPH) or lysophosphatidic acid receptor 6 (LPAR6) gene, encoding an LPA-producing enzyme PA-PLA1α and an LPA receptor LPA6, respectively. OBJECTIVE: To define the molecular basis of ARWH/hypotrichosis in a Japanese family. METHODS: We performed mutational analysis of candidate genes and a series of expression and in vitro functional analyses, which we improved in this study, to determine the consequences resulting from the mutations identified in the family. RESULTS: Novel compound heterozygous LPAR6 mutations were identified in the patient. One was a nonsense mutation c.756T>A (p.Tyr252*); the other was a large insertion mutation within the promoter region of LPAR6. Expression studies detected LPAR6 mRNA only from the c.756T>A allele in the patient's hair follicles, suggesting that the insertion in the other allele disrupted the LPAR6 promoter and thus led to a failure of transcription. Furthermore, an improved LPA6 functional assay developed in this study demonstrated aberrant expression and a subsequent loss of function of the p.Tyr252*-mutant protein. CONCLUSION: Through establishing a useful assay system for LPA6, our results further underscore the crucial roles of LPAR6 in hair follicle development and hair growth in humans at molecular levels.

    DOI: 10.1016/j.jdermsci.2015.03.006

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  • Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene. 国際誌

    Ryota Hayashi, Toshinori Bito, Mariko Taniguchi-Ikeda, Muhammad Farooq, Masaaki Ito, Yutaka Shimomura

    The Journal of dermatology   41 ( 12 )   1109 - 10   2014年12月

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  • Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family. 国際誌

    Yuichi Kurihara, Ryota Hayashi, Emiko Watanabe, Shun-ichi Miyakawa, Kumiko Kajiwara, Maiko Matsuda, Kazue Yoshida, Yutaka Shimomura, Hironori Niizeki

    The Journal of dermatology   41 ( 12 )   1110 - 2   2014年12月

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  • Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair. 国際誌

    Ryota Hayashi, Shigeki Inui, Muhammad Farooq, Masaaki Ito, Yutaka Shimomura

    The Journal of dermatology   41 ( 10 )   890 - 4   2014年10月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    Autosomal recessive woolly hair (ARWH) is characterized by short and tightly curled scalp hair without any obvious complications. The disease is known to be caused by either lipase H (LIPH) or LPAR6 genes. Proteins encoded by these two genes are closely related to each other in a lipid-signaling pathway that is believed to play crucial roles in hair follicle development and hair growth. In the Japanese population, most affected individuals with ARWH have been shown to carry two prevalent founder mutations in the LIPH gene, c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn), while other LIPH mutations have been occasionally identified. In this study, we analyzed a Japanese patient with ARWH, and identified compound heterozygous mutations in the LIPH gene, c.736T>A (p.Cys246Ser) and c.982+5G>T. The latter one was a novel splice site mutation in intron 7. Expression studies using blood-derived RNA from the patient detected the LIPH transcript from the c.736T>A mutant allele, but not from the c.982+5G>T mutant allele. Furthermore, in vitro transcription assay in cultured cells showed that the mutation c.982+5G>T caused an aberrant splicing event, leading to a frame-shift and a premature termination codon (p.Met328Serfs*41). To the best of our knowledge, this is the second splice site mutation in the LIPH gene, and our findings further expand the spectrum of the LIPH mutations underlying ARWH.

    DOI: 10.1111/1346-8138.12623

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  • Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family. 国際誌

    Ryota Hayashi, Toshihide Akasaka, Masaaki Ito, Yutaka Shimomura

    The Journal of dermatology   41 ( 10 )   937 - 8   2014年10月

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  • Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene. 国際誌

    Ryota Hayashi, Muhammad Farooq, Hiroki Fujikawa, Atsushi Fujimoto, Tsuyoshi Hashimoto, Masaaki Ito, Yutaka Shimomura

    The Journal of dermatology   40 ( 4 )   281 - 3   2013年4月

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共同研究・競争的資金等の研究

  • Precision Medicineを目指すアトピー性皮膚炎モデルシステムの確立

    研究課題/領域番号:20K17343  2020年4月 - 2022年3月

    日本学術振興会  科学研究費助成事業 若手研究  若手研究

    林 良太

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    配分額:4290000円 ( 直接経費:3300000円 、 間接経費:990000円 )

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