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2005 Fiscal Year Final Research Report Summary

CONSORTIUM-BACED LINKAGE ANALYSIS AND IDENTIFICATION OF GENES FOR SINGEL-GENE DISEASES

Research Project

Project/Area Number 13854024
Research Category

Grant-in-Aid for Scientific Research (S)

Allocation TypeSingle-year Grants
Research Field Human genetics
Research InstitutionNAGASAKI UNIVERSITY

Principal Investigator

NIIKAWA Norio  NAGASAKI UNIVERSITY, GRADUATE SCHOOL OF BIOMEDICAL SCIENCES, DEPARTMENT OF HUMAN GENETICS, PROFESSOR, 大学院・医歯薬学総合研究科, 教授 (00111170)

Co-Investigator(Kenkyū-buntansha) YOSHIURA Koh-ichiro  NAGASAKI UNIVERSITY, GRADUATE SCHOOL OF BIOMEDICAL SCIENCES, DEPARTMENT OF HUMAN GENETICS, ASSOCIATE PROFESSOR, 大学院・医歯薬学総合研究科, 助教授 (00304931)
KISHINO Tatsuya  NAGASAKI UNIVERSITY, CENTER FOR FRONTIER LIFE SCIENCES, ASSOCIATE PROFESSOR, 先導生命科学研究支援センター, 助教授 (70315232)
TSUKAMOTO Kazuhiro  NAGASAKI UNIVERSITY, GRADUATE SCHOOL OF BIOMEDICAL SCIENCES, DEPARTMENT FOR MEDICAL TREATMENT, PROFESSOR, 大学院・医歯薬学総合研究科, 教授 (30253305)
MATSUMOTO Tadashi  NAGASAKI UNIVERSITY, GRADUATE SCHOOL OF BIOMEDICAL SCIENCES, DEPARTMENT OF BASIC NURSING, PROFESSOR, 大学院・医歯薬学総合研究科, 教授 (70190535)
NARITOMI Kenji  UNIVERSITY OF THE RYUKYUS, DEPARTMENT OF MEDICAL GENETICS, PROFESSOR, 医学部, 教授 (20101446)
FUKUSHIMA Yoshimitsu  SHINSHU UNIVERSITY, DEPARTMENT OF MEDICAL GENETICS, PROFESSOR (70273084)
Project Period (FY) 2001 – 2005
Keywordslinkage analysis / single-gene disorders / gene mapping / disease genes / familial cases of genetic diseases
Research Abstract

This research aimed to collect many cases of single-gene disorders of unknown cause by a consortium from all of Japan and to map the disease loci and identify genes for the diseases. During a 5-year-period of the research, we performed linkage analysis of 14 such disorders (including genetic traits) and identified novel gene mutations in 8 disorders. The followings are the details of the diseases studied : (1)Retinitis pigmentosa : by linkage analysis, we assigned disease loci of 3 Japanese and 2 Thai families, and identified RPGR and NDP mutations, respectively ; (2)Engelmann disease : as a linkage analysis found two Engelmann disease families in which disease loci did not correspond the TGFB1 locus, we proposed the disease in the families is a new clinical entity, Engelmann disease type 2 ; (3)Familial hearing impairment : linkage analysis of a large family mapped the locus and identified a novel mutation ; (4)Van der Woude syndrome : the diseases of two families were both mapped to … More 1q32-q41, and mutations in IRF6 were identified in each family ; (5)Anosmia : we found two large Iranian families, and mapped the disease locus within a region between D18S452 and D18S475 ; (6)Familial ASD : linkage analysis of one large family led to the disease gene localization to 8p23-p22, and mutation analysis identified a one-base deletion in GATA4 ; (7)Spastic paraplegia : linkage analysis of one big family mapped the disease to 2p23 and mutation study identified a large intragenic deltion in SPG4 ; (8)Palmoplantar hyperhydrosis : linkage analysis of 11 families assigned the disease of three families to 14q11.2, but locus heterogeneity was evident ; (9)Epidermolysis bullosa : linkage and mutation analysis of one family identified a novel mutation in COL17A1 ; (10)Human earwax trait : linkage analysis mapped the earwax locus to 16p11.2-q12.1, and subsequent association study using SNPs identified a functional SNP in ABCC11 as the earwax determinant ; (11)Familial thrombocytopenia : linkage analysis mapped the disease between D17S950 and D17S1607 ; (12)Familial amyotropic lateral sclerosis : linkage analysis of one family mapped the disease to either 1p or 17q ; (13)and(14)Familial prognathism and Familial blepharoptosis : In neither diseases, disease loci were assigned, because of locus heterogeneity was evident. Less

  • Research Products

    (81 results)

All 2006 2005 2004 2003 2002 2001 Other

All Journal Article (80 results) Patent(Industrial Property Rights) (1 results)

  • [Journal Article] Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.2006

    • Author(s)
      Sato H, Niikawa N, et al.
    • Journal Title

      J Hum Genet (In press)

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Lack of association between the TGF-β1 gene polymorphisms an recurrent spontaneous abortion.2006

    • Author(s)
      Amani D, Yoshiura K, Niikawa N, et al.
    • Journal Title

      J Reprod Immunol (In press)

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Non-hotspot-related breakpoints of common deletions in Soto syndrome are located within destabilized DNA regions.2006

    • Author(s)
      Visser R, Niikawa N, et al.
    • Journal Title

      J Med Genet (In press)

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A primary palmar hyperhidrosis locus maps to 14g11.2-q132006

    • Author(s)
      Higashimoto I, Yoshiura K, Niikawa N, et al.
    • Journal Title

      Am J Med Genet (In press)

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A SNP in the ABCC11 gene is the determinant of human earwax : type.2006

    • Author(s)
      Yoshiura K, Niikawa, N, et al.
    • Journal Title

      Nat Genet 38

      Pages: 324-330

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A novel missense mutation.(E349V) in a large family with Van der Woude syndrome : Linkage and mutation studies with fingernail DNA.2006

    • Author(s)
      Matsuzawa N, Natsume N, Niikawa N, Shimozato K, Yoshiura K
    • Journal Title

      J Dent Res (In press)

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] PTCH1 mutations in four Japanese families with basal cell nevus syndrome.2006

    • Author(s)
      Matsuzawa N, Nagao T, Niikawa N, Shimozato K, Yoshiura K
    • Journal Title

      J Clin Pathol (In press)

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] PAX9 and TGFB3 are susceptible to nonsyndromic cleft lip with or without cleft palate in the Japanese : Population-based an family-based candidate gene analyses.2006

    • Author(s)
      Ichikawa E, Niikawa N, Yoshiura K, et al.
    • Journal Title

      J Hum Genet 51

      Pages: 38-46

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.2006

    • Author(s)
      Miyake N, Yoshiura K, Kishino T, Niikawa N, et al.
    • Journal Title

      Am J Med Genet 140A

      Pages: 291-293

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] BAC array CGH reveals genomic aberrations in idiopathic mental retardation.2006

    • Author(s)
      Miyake N, Yoshiura K, Kishino T, Niikawa N, et al.
    • Journal Title

      Am J Med Genet 140A

      Pages: 205-211

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A primary palmar hyperhidrosis locus maps to 14q11.2-q13.2006

    • Author(s)
      Higashimoto I, Yoshiura K, Hirakawa N, Higashimoto K, Soejima H, Totoki T., Mukai T, Niikawa N
    • Journal Title

      Am J Med Genet 140A(6)

      Pages: 565-572

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilized DNA regions.2006

    • Author(s)
      Visser R, Shimokawa O, Harada N, Niikawa N, Matsumoto N
    • Journal Title

      J Med Genet 42(11)

      Pages: e66

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] SNP in the ABCC11 gene is the determinant of human earwax type.2006

    • Author(s)
      Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Linag D-S, Miwa N, Kim D-K, Ariuntuul G, Natsume N, Ohta T, Tomita H, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N
    • Journal Title

      Nat Genet 38

      Pages: 324-330

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] PAX9 and TGFB3 are susceptible to nonsyndromic cleft lip with or without cleft palate in the Japanese : Population-based and family-based candidate gene analyses.2006

    • Author(s)
      Ichikawa E, Watanabe A, Nakano Y, Hirano A, Akita S, Kinoshita A, Kondo, S, Kishino, T, Uchiyama T, Niikawa N, Yoshiura K
    • Journal Title

      J Hum Genet 51

      Pages: 38-46

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.2006

    • Author(s)
      Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou J-W, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N.
    • Journal Title

      Am J Med Genet 140A

      Pages: 291-293

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] BAC array CGH reveals genomic aberrations in idiopathic mental retardation.2006

    • Author(s)
      Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N.
    • Journal Title

      Am J Med Genet 140A

      Pages: 205-211

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Eosinophil infiltration and amyloidsis in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family2005

    • Author(s)
      Nomura M, Hamasaki Y, Ktayama I, Niikawa N, Yosiura K
    • Journal Title

      J Hum Genet 50

      Pages: 483-489

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene,2005

    • Author(s)
      Matsumoto T, Niikawa N, et al.
    • Journal Title

      Am J Med Genet 138A

      Pages: 300-302

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Uniparental disomy and imprinting defects in Japanese patient with Angelman syndrome2005

    • Author(s)
      Sai toh S, Wada T, Oka j ima M, Takano K, Sudo ?A, Niikawa N
    • Journal Title

      Brain Develop 27

      Pages: 389-391

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.2005

    • Author(s)
      Jon Z-B, Niikawa N, Nao-I N, et al.
    • Journal Title

      Mol Vis 11

      Pages: 535-541

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A large deletion involving the 5'-UTR in the spastin gene cause mild phenotype of autosomal dominant hereditary spastic paraplegia.2005

    • Author(s)
      Iwanaga H, Niikawa N, Yoshiura K, et al.
    • Journal Title

      Am J Med Genet 133A

      Pages: 13-17

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.2005

    • Author(s)
      Miyake N, Yoshiura K, Niikawa N, et al.
    • Journal Title

      Am J Med Genet 135A

      Pages: 103-105

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?2005

    • Author(s)
      Miura K, Niikawa N
    • Journal Title

      J Hum Genet 50

      Pages: 1-6

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Eosinophil infiltration and amyloidsis in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family2005

    • Author(s)
      Nomura M, Hamasaki Y, Ktayama I, Niikawa N, Yosiura K
    • Journal Title

      J Hum Genet 50(9)

      Pages: 483-489

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB.2005

    • Author(s)
      Matsumoto T, Miyake N, Watanabe Y, Yamanaka G, Oana S, Ogiwara M, Hoshika A, Miyahara H, Niikawa N
    • Journal Title

      Am J Med Genet 138A

      Pages: 300-302

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome.2005

    • Author(s)
      Saitoh S, Wada T, Okajima M, Takano K, Sudo A, Niikawa N
    • Journal Title

      Brain Develop 27

      Pages: 389-391

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.2005

    • Author(s)
      Jin Z-B, Liu X-Q, Uchida A, Vervoot R, Morishita K, Hayakawa M, Murakami A, Matsumoto N, Niikawa N, Nao-I N
    • Journal Title

      Mol Vis 11

      Pages: 535-541

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] A large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.2005

    • Author(s)
      Iwanaga H, Tsujino A, Shirabe S, Eguchi H, Fukushima N, Niikawa N, Yoshiura K, Eguchi K
    • Journal Title

      Am J Med Genet A133

      Pages: 13-17

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.2005

    • Author(s)
      Miyake N, Visser R, Kinoshita A, Yoshiura K, Harada N, Okamoto N, Sonoda T, Kaname T, Chinen Y, Naritomi K, Tonoki H, Kondoh T, Kurosawa K, Niikawa N, Matsumoto N
    • Journal Title

      Am J Med Genet 135A

      Pages: 103-105

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?2005

    • Author(s)
      Miura K, Niikawa N
    • Journal Title

      J Hum Genet 50(1)

      Pages: 1-6

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Eight novel microsatellite markers in the 3' region of the dystrophin gene useful for diagnosis of Duchenne muscular dystrophy.2004

    • Author(s)
      Matsumoto T, Niikawa N
    • Journal Title

      Prenat Diagn 24

      Pages: 1014-1015

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A T25G mutation in the IRF6 gene in a Japanese family with Van der Woude syndrome.2004

    • Author(s)
      Matsuzawa N, Yoshiura K, Niikawa N, et al.
    • Journal Title

      Oral Surg Oral Med Oral PatholOral Radiol Endod 98

      Pages: 414-417

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Heterozygous TGFBR2 mutations in Marfan syndrome.2004

    • Author(s)
      Mizuguchi T, Yoshiura K, Kishino T, Niikawa N, et al.
    • Journal Title

      Nat Genet 36

      Pages: 855-860

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A novel GATA4 mutation completely segregated with atrial septal defect in a large Japnese family.2004

    • Author(s)
      Okubo A, Yoshiura K, Kishino T, Niikawa N, et al.
    • Journal Title

      J Med Genet 41

      Pages: E97

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Familial isolated congenital anosmia with morphologically normal olfactory bulb in two unrelated Iranian families : A new clinical entity?2004

    • Author(s)
      Chadami M, Miikawa N, Yoshiura K, et al.
    • Journal Title

      Am J Med Genet 127A

      Pages: 307-309

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A rapid diagnostic method for a retrotransposal insertiona mutation into the FCMD gene in Japanese patients with Fukuyam● congenital muscular dystrophy.2004

    • Author(s)
      Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N
    • Journal Title

      Am J Med Genet 127A

      Pages: 54-57

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] TGFB1 mutations in four new families with Camurati-Engelmann disease : Confirmation of independently arising LAP-domain- specific mutations.2004

    • Author(s)
      Kinoshita A, Niikawa N, Yoshiura K, et al.
    • Journal Title

      Am J Med Genet 127A

      Pages: 104-107

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] An isolated congenital anosmia locus maps to 18p11.23-g12.22004

    • Author(s)
      Ghadami M, Miikawa N, Yoshiura K, et al.
    • Journal Title

      J Med Genet 41

      Pages: 299-303

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Eight novel microsatellite markers in the 3'region of the dystrophin gene useful for diagnosis of Duchenne muscular dystrophy.2004

    • Author(s)
      Matsumoto T, Niikawa N
    • Journal Title

      Prenat Diagn 24(12)

      Pages: 1014-1015

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] A T25G mutation in the IRF6 gene in a Japanese family with Van der Woude syndrome.2004

    • Author(s)
      Matsuzawa N, Nakamura T, Niimi T, Furukawa H, Toyoda T, Yoshiura K, Niikawa N, Natsume N, Shimozato K
    • Journal Title

      Oral Surg Oral Med Oral Pathol Oral Radiol Endod 98

      Pages: 414-417

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Heterozygous TGFBR2 mutations in Marfan syndrome.2004

    • Author(s)
      Mizuguchi T, Collod-Beroud G, Abifadel M, Akiyama T, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Fukukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N
    • Journal Title

      Nat Genet 36(8)

      Pages: 855-860

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.2004

    • Author(s)
      Okubo A, Miyoshi O, Baba K, Takagi M, Tsukamoto K, Kinoshita A, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N
    • Journal Title

      J Med Genet 41(7)

      Pages: E97

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Familial isolated congenital anosmia with morphologically normal olfactory bulb in two unrelated Iranian families : A new clinical entity?2004

    • Author(s)
      Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Kinoshita A, Najafi M-T, Niikawa N, Yoshiura K
    • Journal Title

      Am J Med Genet 127A(3)

      Pages: 307-309

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.2004

    • Author(s)
      Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N
    • Journal Title

      Am J Med Genet 127A

      Pages: 54-57

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] TGFB1 mutations in four new families with Camurati-Engelmann disease : Confirmation of independently arising LAP-domain-specific mutations.2004

    • Author(s)
      Kinoshita A, Shirahama A, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Seidel J, Fukumaki Y, Ikegawa S, Niikawa N, Yoshiura K
    • Journal Title

      Am J Med Genet 127A

      Pages: 104-107

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] An isolated congenital anosmia locus maps to 18p11.23-q12.2.2004

    • Author(s)
      Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Kinoshita A, Pasalar P, Komatsu K, Najafi MT, Niikawa N, Yoshiura K
    • Journal Title

      J Med Genet 41

      Pages: 299-303

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Fifty microdeletions among 112 cases of Sotos syndrome : Lo copy repeats possibly mediate the common deletion.2003

    • Author(s)
      Kurotaki N, Yoshiura K, Kishino T, Niikawa N, et al.
    • Journal Title

      Hum Mut 22

      Pages: 378-387

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Sotos syndrome and haploinsufficiency of NSD1 : Clinical features of intragenic mutations and submicroscopic deletions.2003

    • Author(s)
      Nagai T, Niikawa N, Naritomi K, et al.
    • Journal Title

      J Med Genet 40

      Pages: 285-289

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A novel mutation, 1234del (C), of the IRF6 in a Thai family wit van der Woude syndrome.2003

    • Author(s)
      Shotelersuk V, Srichomthong C, Yoshiura K, Niikawa N
    • Journal Title

      Int J Mol med 11

      Pages: 505-507

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Fifty microdeletions among 112 cases of Sotos syndrome : Low copy repeats possibly mediate the common deletion.2003

    • Author(s)
      Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng J-F, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N
    • Journal Title

      Hum Mut 22(5)

      Pages: 378-387

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Sotos syndrome and haploinsufficiency of NSD1 : Clinical features of intragenic mutations and submicroscopic deletions.2003

    • Author(s)
      Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K
    • Journal Title

      J Med Genet 40(4)

      Pages: 285-289

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] A novel mutation, 1234del(C), of the IRF6 in a Thai family with van der Woude syndrome.2003

    • Author(s)
      Shotelersuk V, Srichomthong C, Yoshiura K, Niikawa N
    • Journal Title

      Int J Mol Med 11(4)

      Pages: 505-507

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Camurati-Engelmann disease Type II : Progressive diaphyseal dysplasia with striations of the bones.2002

    • Author(s)
      Nishimura G, NIikawa N, et al.
    • Journal Title

      Am J Med Genet 107

      Pages: 5-11

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Haploinsufficiency of the NSD1 gene causes Sotos syndrome.2002

    • Author(s)
      Kyrotaki N, Naritomi K, Yoshiura K, Kishino T, Niikawa N. et al.
    • Journal Title

      Nat Genet 30

      Pages: 365-366

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.2002

    • Author(s)
      Tomita H-A, Nakatomi K, Niikawa N, et al.
    • Journal Title

      Lancet 359

      Pages: 2000-2002

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Confirmation of genetic homogeneity of non-syndromic low frequency sensorineural hearing loss by linkage analysis an DFNA6/14 mutations in a Japanese family.2002

    • Author(s)
      Komatsu K Kishino K, Niikawa N, Yoshiura K, et al.
    • Journal Title

      J Hum Genet 47

      Pages: 395-399

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch : a new distal symphalangism syndrome2002

    • Author(s)
      IKantaputra PN, Kinoshita A, Amwonges C, Praditsup 0, Niikawa N
    • Journal Title

      Am J Med Genet 109

      Pages: 56-60

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, an absence of TBX5 mutations : report of a Thai family.2002

    • Author(s)
      Kantaputra PN, Yamasaki K, Ishida T, Kishino T, Niikawa I'
    • Journal Title

      Am J Med Genet 111

      Pages: 301-306

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Camurati-Engelmann disease Type II : Progressive diaphyseal dysplasia with striations of the bones.2002

    • Author(s)
      Nishimura G, Nishimura H, Tanaka Y, Makita Y, Ikegawa S, Ghadami M, Kinoshita A, Niikawa N
    • Journal Title

      Am J Med Genet 107

      Pages: 5-11

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Haploinsufficiency of the NSD1 gene causes Sotos syndrome.2002

    • Author(s)
      Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H-A, Kinoshita A, Mizuguchi T, Yoshiura K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N
    • Journal Title

      Nat Genet 30(April)

      Pages: 365-366

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.2002

    • Author(s)
      Tomita H-A, Yamada K, Ghadami M, Ogura T, Yanai Y, Nakatomi K, Sadamatsu M, Masui A, Nanko S, Kato N, Niikawa N
    • Journal Title

      Lancet 359(9322)

      Pages: 2000-2002

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Confirmation of genetic homogeneity of non-syndromic low frequency sensorineural hearing loss by linkage analysis and DFNA6/14 mutations in a Japanese family.2002

    • Author(s)
      Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino K, Ohta T, Niikawa N, Yoshiura K
    • Journal Title

      J Hum Genet 47

      Pages: 395-399

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch : a new distal symphalangism syndrome?2002

    • Author(s)
      Kantaputra PN, Kinoshita A, Limwonges C, Praditsup O, Niikawa N
    • Journal Title

      Am J Med Genet 109(1)

      Pages: 56-60

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations : report of a Thai family.2002

    • Author(s)
      Kantaputra PN, Yamasaki K, Ishida T, Kishino T, Niikawa N
    • Journal Title

      Am J Med Genet 111(3)

      Pages: 301-306

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Domain-specific mutations of a Transforming growth factor (TGF)-b1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-b1.2001

    • Author(s)
      Saito T, Kinoshita A, Yoshiura K, Mak i t a Y, Wakui K, Honke K, Niikawa N, Taniguchi N
    • Journal Title

      J Biol Chem 276

      Pages: 11469-11472

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family.2001

    • Author(s)
      Ghadami M, Yoshiura K, NiikawalT, et al.
    • Journal Title

      Am J Med Genet 104

      Pages: 147-151

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Two Thai families with Norrie disease (ND) : Association of two novel missense mutations with severe ND phenotype, epileptic seizures, and manifesting female carrier.2001

    • Author(s)
      Yamada K, Niikawa N, Kishino T, et al.
    • Journal Title

      Am J Med Genet 100

      Pages: 52-55

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Molecular characterization of NSD1, a human homologue of the mouse Nsdl gene.2001

    • Author(s)
      Kurotaki N, Harada N, YoshiurK, Sugano S, NiikawaN, Matsumoto N
    • Journal Title

      Gene 279

      Pages: 197-204

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1.2001

    • Author(s)
      Miyoshi O, Niikawa N, et al.
    • Journal Title

      Am J Med genet 104

      Pages: 250-256

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.2001

    • Author(s)
      Yokoyama A, Niikawa N, Naoi N, et al.
    • Journal Title

      Am J Med genet 104

      Pages: 232-238

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Domain-specific mutations of a Transforming growth factor (TGF)-b1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-b1.2001

    • Author(s)
      Saito T, Kinoshita A, Yoshiura K, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N
    • Journal Title

      J Biol Chem 276

      Pages: 11469-11472

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family.2001

    • Author(s)
      Ghadami M, Majidzadeh-A K, Haerian B-S, Damavandi E, Yamada K, Pasallar P, Nishimura G, Tomita H-A, Yoshiura K, Niikawa N
    • Journal Title

      Am J Med Genet 104

      Pages: 147-151

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Two Thai families with Norrie disease (ND) : Association of two novel missense mutations with severe ND phenotype, epileptic seizures, and manifesting female carrier.2001

    • Author(s)
      Yamada K, Limprasert P, Ratanasukon M, Tengtrisorn S, Yingchareonpukdee J, Vasiknanonte P, Kitaoka T, Ghadami M, Niikawa N, Kishino T
    • Journal Title

      Am J Med Genet 100

      Pages: 52-55

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.2001

    • Author(s)
      Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N
    • Journal Title

      Gene 279

      Pages: 197-204

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1.2001

    • Author(s)
      Miyoshi O, Yabe R, Wakui K, Koizumi S, Uchikawa M, Kajii T, Fukushima Y, Numakura C, Takahashi S, Hayasaka K, Niikawa N
    • Journal Title

      Am J Med Genet 104

      Pages: 250-256

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.2001

    • Author(s)
      Yokoyama A, Maruiwa F, Hayakawa M, Kannai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naoi N
    • Journal Title

      Am J Med Genet 104

      Pages: 232-238

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.

    • Author(s)
      Sato H, Miyamoto T, Yogev L, Namiki M, Koh E, Hayashi H, Sasaki Y, Ishikawa M, Lamb DJ, Matsumoto N, Niikawa N, Sengoku K
    • Journal Title

      J Hum Genet (in press)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Lack of association between the TGF-b1 gene polymorphisms and recurrent spontaneous abortion.

    • Author(s)
      Amani D, Dehaghani SA, Zolghadri J, Ravangard F, Niikawa N, Yoshiura K, Ghaderi A
    • Journal Title

      J Reprod Immunol (in press)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] A novel missense mutation (E349V) in a large family with Van der Woude syndrome : Linkage and mutation studies with fingernail DNA.

    • Author(s)
      Matsuzawa N, Natsume N, Niikawa N, Shimozato K, Yoshiura K
    • Journal Title

      J Dent Res (in press)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] PTCH1 mutations in four Japanese families with basal cell nevus syndrome.

    • Author(s)
      Matsuzawa N, Nagao T, Niikawa N, Shimozato K, Yoshiura K
    • Journal Title

      J Clin Pathol (in press)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Patent(Industrial Property Rights)] 耳垢型または腋下臭症の評価方法2005

    • Inventor(s)
      新川詔夫, 吉浦孝一郎
    • Industrial Property Rights Holder
      出願者 国立大学法人長崎大学
    • Industrial Property Number
      特願 2005-178563
    • Filing Date
      2005-06-17
    • Description
      「研究成果報告書概要(和文)」より

URL: 

Published: 2007-12-13  

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