Mutation analyses of inherited keratodermas and gene identification for inherited keratodermas of unknown pathology

• Project/Area Number: 19790806
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Dermatology
• Research Institution: Kurume University
• Principal Investigator: HAMADA Takahiro Kurume University, 医学部, 講師 (40320204)
• Project Period (FY): 2007 – 2008
• Project Status: Completed (Fiscal Year 2008)
• Budget Amount: ¥3,780,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥480,000); Fiscal Year 2008: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2007: ¥1,700,000 (Direct Cost: ¥1,700,000)
• Keywords: 単一遣伝子病 / 遺伝子変異 / genotype-phenotype correlation / 単一遺伝子病 / gentype-phenotype correlation

Research Abstract

先天性角化症や表皮水疸症の患者についてPCR法、DDGE法、ダイレクトシークエンス法を用いて遺伝子変異解析を行い、いくつかの結果を報告した。一部の疾患においては、臨床的重症度と遺伝子変異の種類・部位との相関についての所見を見出すことができた.

Research Products

• [Journal Article] PCR法と漣抽NIによる制限酵素消化で診断したA群色素性乾皮症. (2009)
  • Author(s): 古賀浩嗣,濱田尚宏,安元慎一郎,橋本隆,錦織千佳子
  • Journal Title: 皮膚病診療 31 Pages: 317-320
  • Peer Reviewed
• [Journal Article] Hailey-Hailey病とカルシウムポンプ (2009)
  • Author(s): 濱田尚宏
  • Journal Title: 日皮会誌 119 Pages: 315-320
  • NAID: 10028276565
• [Journal Article] A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen. (2009)
  • Author(s): Hamada T, Fukuda S, Ishii N, Abe T, Nagata K, Koro O, Hatano Y, Nakano H, Sawamura D, Hashimoto T.
  • Journal Title: J Dermatol Sci 54 Pages: 212-214
  • NAID: 10025333973
  • Peer Reviewed
• [Journal Article] 単純型表皮水庖症(Kobner型). (2009)
  • Author(s): 金子栄,森田栄伸,小笹正三郎,山田義貴,濱田尚宏,河野優子,橋本隆
  • Journal Title: 皮膚病診療 31 Pages: 187-190
  • Peer Reviewed
• [Journal Article] A new c.2541delC mutation in the ATP2A2 gene in a Japanese patient with Darier's disease (2009)
  • Author(s): Hamada T
  • Journal Title: J Eur Acad Dermatol Yenereol Jlu 3(Epub ahead of print)
  • Peer Reviewed
• [Journal Article] A Japanese family with dominant pretibial dystrophic epidermolysis bullosa : Identification of a new glycine substitution in the triple-helical collagenous domain of tvne VII collagen (2009)
  • Author(s): Hamada T
  • Journal Title: J Dermatol Sci mar 6(Epub ahead of print)
  • Peer Reviewed
• [Journal Article] Vorner型掌蹴角化症 (2008)
  • Author(s): 濱田尚宏
  • Journal Title: MB Derma. 142 Pages: 49-54
• [Journal Article] characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C] gene. (2008)
  • Author(s): Hamada T, Fukuda S, Sakaguchi S, Yasumoto S, Kim SC, Hashimoto T. Molecular and clinical
  • Journal Title: J Dermatol Sci 51 Pages: 31-36
  • Peer Reviewed
• [Journal Article] A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10. (2008)
  • Author(s): Ishii N, Hamada T, Yasumoto S, Hashimoto T.
  • Journal Title: Clin Exp Dermatol 33 Pages: 353-354
  • Peer Reviewed
• [Journal Article] De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atonic dermatitis. (2008)
  • Author(s): Hamada T, Sandilands A, Fukuda S, Sakaguchi S, Ohyama B, Yasumoto S, McLean WH, Hashimoto T.
  • Journal Title: J Invest Dermatol 128 Pages: 1323-1325
  • Peer Reviewed
• [Journal Article] Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: The splice site mutation c.6216+5G>T in the COL TAI gene results in aberrant and normal splicings. (2008)
  • Author(s): Hamada T, Fukuda S, Ishii N, Sakaguchi S, Ishilkawa T, Abe T, Yasumoto S, Hashimoto T, Nakano H, Sawamura D.
  • Journal Title: J Dermatol Sci 50 Pages: 147-150
  • Peer Reviewed
• [Journal Article] De cove occurrence of the filaggrin mutation p. R501X with prevalent mutation c. 3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis (2008)
  • Author(s): Hamada T
  • Journal Title: J Invest Dermatol 128 Pages: 1323-5
  • Peer Reviewed
• [Journal Article] Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: The splice site mutation c.6216+5G>T in the COL7A1 gene results in aberrant and normal splicings. (2008)
  • Author(s): Hamada T
  • Journal Title: J Dermatol Sci Jan 18
  • NAID: 10024118958
  • Peer Reviewed
• [Journal Article] Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene (2008)
  • Author(s): Hamada T
  • Journal Title: J Dermatol Sci (In press)
  • NAID: 10024119371
  • Peer Reviewed
• [Journal Article] The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. (2007)
  • Author(s): Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA.
  • Journal Title: Exp Dermatol 16 Pages: 881-890
  • Peer Reviewed
• [Journal Article] De novo occurrence of the filaggrin mutation p. R501X with prevalent mutation c.3321de1A in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. (2007)
  • Author(s): Hamada T
  • Journal Title: J Invest Dermatol Nov 15
  • Peer Reviewed
• [Presentation] ケラチン5遺伝子にスプライスサイト変異を認めた単純型表皮水庖症の1例. (2008)
  • Author(s): 辻貴子、上田明弘、坂口幸子、濱田尚宏、安元慎一郎、橋本隆、高旗博昭、中野創、澤村大輔
  • Organizer: 第30回水庖症研究会
  • Place of Presentation: 東京都渋谷区
  • Year and Date: 2008-10-26
• [Presentation] Ichthyosis follioularis,alopecia,and photophobia(IFAP)syndromeの1例, (2008)
  • Author(s): 福田俊平、濱田尚宏、安元慎一郎、橋本隆
  • Organizer: 第23回角化症研究会
  • Place of Presentation: 東京都千代田区
  • Year and Date: 2008-08-02
• [Presentation] 点状掌蹠角化症の親子例. (2008)
  • Author(s): 夏秋洋平、小野文武、濱田尚宏、安元慎一郎、橋本隆
  • Organizer: 日本皮膚科学会第345会福岡地方会
  • Place of Presentation: 福岡県久留米市
  • Year and Date: 2008-07-13
• [Presentation] Molecular and clinical characterization in Japanese and Itorean patients with Hailev-Hailey disease : Six new mutations in the ATP2C1 gene (2008)
  • Author(s): Hamada T
  • Organizer: International Investigative Dermatology 2008
  • Place of Presentation: 京都
  • Year and Date: 2008-05-14
• [Presentation] Autosomal recessive congenital ichthyses患者における朋04ヱ2遺伝子変異の検討. (2008)
  • Author(s): 福田俊平、濱田尚宏、坂井香織、秋山真志、清水宏、橋本隆
  • Organizer: 第15回分子皮膚科学フォーラム
  • Place of Presentation: 京都府京都市
• [Presentation] 先天性表皮水庖症の1例 (2008)
  • Author(s): 西田隆明、瀬戸山充、成田博美、濱田尚塞、橋本隆、中野創、澤村大輔
  • Organizer: 第72回日本皮膚科学会東部支部学術大会
  • Place of Presentation: 秋田県秋田市
• [Presentation] A群色素性乾皮症の1例. (2008)
  • Author(s): 古賀浩嗣、濱田尚宏、安元慎一郎、橋本隆、錦織千佳子
  • Organizer: 第32回日本小児皮膚科学会学術大会
  • Place of Presentation: 東京都千代田区.
• [Presentation] 劣性栄養障害型先天性表皮水萢症の1例. (2007)
  • Author(s): 橋本隆、濱田尚宏、坂口幸子、安元慎一郎、中野創、澤村大輔
  • Organizer: 第50回日本皮膚科学会高知地方会例会,
  • Place of Presentation: 高知県香南市
  • Year and Date: 2007-09-02
• [Presentation] フィラグリン遺伝子変異を同定した尋常性魚鱗癬の1例 (2007)
  • Author(s): 福田俊平、濱田尚宏、坂口幸子、安元慎一良匡、Aileen Sandilands,IrwinMcLean、橋本隆
  • Organizer: 第22回角化症研究会
  • Place of Presentation: 東京都千代田区
  • Year and Date: 2007-08-04
• [Presentation] The common filaggrin mutation R501X in a Japanese family with ichthyosis vulgar is. (2007)
  • Author(s): Hamada T
  • Organizer: The society of Investigative Dermatology 2007
  • Place of Presentation: ロサンゼルス、米国
  • Year and Date: 2007-05-10
• [Presentation] 先天性皮膚疾患の遺伝子診断 (2007)
  • Author(s): 濱田尚宏
  • Organizer: 第59回日本皮膚科学会西部支部学術大会.
  • Place of Presentation: 宮崎県宮崎市.
• [Presentation] Peeling skin syndromeの1例. (2007)
  • Author(s): 吉村和弘、福田俊平、石井文人、濱田尚塗、安元慎一郎、橋本隆、市川竜太郎、古江増隆
  • Organizer: 第71回日本皮膚科学会東部支部学術大会.
  • Place of Presentation: 北海道札幌市.
• [Presentation] 当科におけるHailey-Hailey病のATP2C1遣伝子変異解析. (2007)
  • Author(s): 濱田尚宏、坂口幸子、福田俊平、Muhammad siddique、橋本隆
  • Organizer: 第14回分子皮膚科学フォーラム.
  • Place of Presentation: 愛媛梁松山市
• [Presentation] The common filaggrin mutation R501X in a Japanese family with ichthyosis vulgaris. (2007)
  • Author(s): Hamada T, Sakaguchi S, Ohyama B, Yasumoto S, Hashimoto T
  • Organizer: The society of Investigative Dermatology
  • Place of Presentation: Los Angeles, USA
• [Book] New York : Springer (2008)
  • Author(s): Hamada T. Lipoid proteinosis. In : Ruggieri M, Pascual-Castroviejo I, Rocco CD, eds.
  • Publisher: Disorders : Phakomatoses Hamartoneoplastic Syndromes
• [Book] Neurocutaneous Disorders : Phakomatoses & Hamartoneoplastic Syndromes (2008)
  • Author(s): Hamada T In : Ruggieri M, Pascual-Castrovieio I. Rocco CD, eds
  • Total Pages: 1070
  • Publisher: Springer
• [Book] Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes.(in press) (2008)
  • Author(s): Hamada T In: Ruggieri M, Pascual-Cas troviejo I, Rocco CD, eds.
  • Publisher: Springer
• [Remarks]
  • URL: http://www.med.kurume-u.ac.jp/med/derm/