事業推進担当者: 小崎 健次郎 (こさき けんじろう)

事業推進担当者 | 特別研究教員 | RA・特別研究員

小崎 健次郎 (こさき けんじろう)

慶應義塾大学医学部准教授

昭和38年生
慶應義塾大学医学部小児科学教室
〒160-8582 東京都新宿区信濃町35
TEL/FAX:03-3353-1211
E-mail:kkosaki@sc.itc.keio.ac.jp

略歴

平成元年 慶應義塾大学医学部卒業、同小児科学教室入局
平成5年 米国カリフォルニア大学サンディエゴ校に留学(臨床遺伝学クリニカルフェロー)
平成9年 米国ベーラー医科大学客員研究員
平成10年 慶應義塾大学医学部助手 (小児科学)
平成11年 慶應義塾大学医学部専任講師(ファルマシア・アップジョン成長発達講座)
平成13年 慶應義塾大学医学部専任講師 (小児科学)
平成15年 慶應義塾大学医学部助教授 (小児科学)
平成19年~ 慶應義塾大学医学部准教授 (小児科学)

平成16年~ 神戸大学大学院 非常勤講師(小児科学)兼任

資格・学位

医師免許、医学博士、米国医師免許(ECFMG)
日本小児科学会小児科専門医
日本人類遺伝学会専門医指導医 (慶應義塾大学指導責任医)
アメリカ医科遺伝学会臨床遺伝専門医(American Board of Medical Genetics)

主たる研究領域

小児科学・先天異常学・臨床遺伝学・人類遺伝学・遺伝子診断

主たる所属学会

American College of Medical Genetics, Fellow (FACMG)
American Society of Human Genetics
日本人類遺伝学会(評議員)、日本小児科学会(代議員)、日本先天異常学会(評議員)

受賞歴

Fellowship Award, 日米医療交流財団
Postdoctoral Research Fellowship Award for Physicians, Howard Hughes Medical Institute
Fellow, American College of Medical Genetics
三四会奨励賞
慶應義塾大学医学部坂口光洋記念慶應義塾医学振興基金 医学研究奨励

学術誌編集

American Journal of Medical Genetics誌 編集委員
Congenital Anomalies誌 編集委員

COE分担課題と研究活動

[先天異常症・先天代謝異常症の網羅的な変異解析]

本GCOE全体の目標はヒト代謝システム生物学研究である。ヒト代謝システムのゆらぎの最も極端な表現型(phenotype)は先天異常症・先天代謝異常症であり、患者の遺伝子異常(genotype)とphenotypeの関係の緻密な観察と通じて、ヒト代謝システムのシステムのゆらぎに対する修復・破綻・維持の機構について有用な知見やモデル動物において検証すべき作業仮説を得ることができる。

genotypeとphenotypeの関係を解き明かしてゆくためには、系統的かつ網羅的な遺伝子変異解析のインフラを整備することが不可欠である、これまで開発してきた変異解析の技術基盤をGCOEプログラムのメンバーに提供し、大学院生の教育・研究に対して横断的に貢献したい。

先天異常症・先天代謝異常の発症頻度は低く、観察研究から有意義な結論を得るためには、十分な数の症例の蓄積が必要である。国内外から検体を受け入れを増やし、先天異常症・先天代謝異常症のglobal diagnostic centerとしての機能を果たしつつ、基礎医学と臨床医学を繋ぐ研究を展開してゆきたい。

これまでの研究の概要

発生学・遺伝学・小児科学の接点である先天異常学に興味を持ち、小児科に入局、米国カリフォルニア大学サンディエゴ校に留学した。米国臨床遺伝学専門医資格を得るためのトレーニングと並行して ヒト先天異常(内臓逆位)の発症機序について分子遺伝学的観点から研究し、TGFベータファミリ蛋白LEFTYがヒト内臓逆位の原因となることを示した。帰国後、慶応病院に小児遺伝性疾患の専門外来を開設し、先天異常のこどもたちの診療にあたるとともに、形態形成遺伝子の変異と表現型との関連について研究している。

先天異常学分野の対象となる疾患の多くは稀少な遺伝性疾患であるが、遺伝子解析を実施している施設が国内外にほとんど無く、自施設で解析を行う必要があった。当初、直接シーケンシング法により解析していたが、相当のコストと労力を要することから、熱変性高速液体クロマトグラフィー法(DHPLC)を利用した変異スクリーニング法を開発した(DHPLC-COPPERプレート法, 特許公開番号 2001-169781)。これまでに約50の遺伝性先天異常症候群の変異解析システムを確立し、当院での診療・研究に利用している。また、国内外の外部医療機関からの遺伝子診断の依頼を受け、年間200~300件の検査を実施している。

開発した解析技術を利用して(1) 子宮内発育遅延のプロトタイプRussell-Silver症候群の発症に7番染色体上のGRB10遺伝子のゲノムインプリンティング異常が関わる、(2) CHD7遺伝子変異を有する CHARGE症候群患者の必発症状の分布と胎児胚における発現部位が1対1に対応する、(3) Goldehnar症候群がSALL1遺伝子変異により発症する、(4) Shprintzen-Goldberg症候群がTGFBR2遺伝子・FBN1遺伝子のいずれの変異によっても発症するなどの知見を得た。

主な研究業績

1. Kosaki K, Matsuo N, Tamai S, Miyama S, Momoshima S: Isolated aplasia of the anterior pituitary as a cause of congenital hypopituitarism. Hormone Research 1991; 35:226-228.

2. Kosaki K, Stayboldt C, Jones MC: Zimmer phocomelia: Delineation by principal coordinate analysis. American Journal of Medical Genetics 1996; 66:55-59.

3. Kosaki K, Mendoza A, Jones KL: Cervical flexure: Its contribution to normal and abnormal cardiac morphogenesis. Teratology 1996; 54:135-144.

4. Kelley RI, Roessler E, Hennekam RCM, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M: Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? American Journal of Medical Genetics 1996; 66:478-484.

5. Kosaki K, Suzuki H, Nelson T, Schoenbein G, Jones KL: Parametric imaging of the chick embryonic cardiovascular system: A novel functional measure. Pediatric Research 1997; 41:451-456.

6. Kosaki K, Curry C, Roeder E, Jones KL: Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype. American Journal of Medical Genetics 1997; 68:421-427.

7. Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL: Prader-Willi syndrome and Angelman syndrome: Diagnosis with a bisulfite treated-methylation specific PCR method. American Journal of Medical Genetics 1997; 73:308-313.

8. Kosaki K, Casey B: Genetics of human left-right axis malformations. Seminars in Cell and Developmental Biology 1998; 9:89-99.

9. Suzuki H, Delano FA, Jamshidi N, Katz D, Mori M, Kosaki K, Gottlieb RA, Ishii H, Schmid-Schoenbein GW: Enhanced DNA fragmentation in the thymus of spontaneously hypertensive rats. American Journal of Physiology; 276:H2135-2140.

10. del Campo M, Kosaki K, Bennett FC, Jones KL: Developmental delay in fetal aminopterin/methotrexate syndrome. Teratology 1999;60:10-12.

11. Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T: Random X-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature. American Journal of Medical Genetics 1999;86:44-50.

12. Kosaki K, Bassi MT, Kosaki R, Lewin M, Belmont J, Schauer G, Casey B: Characterization and mutation analysis of human LeftyA and LeftyB, homologues of murine genes implicated in left-right axis development. American Journal of Human Genetics 1999;64:712-721.

13. Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B: Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. American Journal of Medical Genetics 1999;82:70-76.

14. Kosaki K, Kosaki R, Craigen WJ, Matsuo N. Isoform-specific imprinting of the human PEG1/MEST gene. American Journal of Human Genetics 2000;66:309-312.

15. Kosaki K, Kosaki R, Robinson WP, Craigen WJ, Shaffer LG, Sato S, Matsuo N. Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay. Journal of Medical Genetics, 2000; 37:E19.

16. Matsuo M, Muroya K, Nanao K, Hasegawa Y, Terasaki H, Kosaki K, Ogata T. Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: Analysis of the X-inactivation patterns. American Journal of Medical Genetics 2000; 91:267-272.

17. Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. American Journal of Human Genetics 2000;67:476-482.

18. Kosaki K, Suzuki T, Kosaki R, Yoshihashi H, Itoh M, Goto Y, Matsuo N. Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder. Molecular Psychiatry 2001; 6: 87-91.

19. Kosaki K, Yoshihashi H, Ohashi Y, Kosaki R, Suzuki T, Matsuo N. Fluorescence-based DHPLC for allelic quantification by single-nucleotide primer extension. Journal of Biochemical and Biophysical Methods 2001; 47:111-119.

20. Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Reply to Mergenthaler et al. American Journal of Human Genetics 2001; 68: 544-546.

21. Maeyama K, Kosaki R, Yoshihashi H, Casey B, Kosaki K. Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes. Teratology 2001; 63:119-126.

22. Kosaki R, Ohashi H, Yoshihashi H, Suzuki T, Kosaki K. A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. Clinical Genetics 2001; 60:314-315.

23. Ishii T, Sato S, Kosaki K, Sasaki G, Muroya K, Ogata T, Matsuo N. Micropenis and the AR Gene: Mutation and CAG Repeat-Length Analysis. Journal of Clinical Endocrinology and Metabolism 2001; 86:5372-5378.

24. Kosaki K, Shimasaki N, Fukushima H, Hara M, Ogata T, Matsuo N. Manifesting female with hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). American Journal of Human Genetics 2001; 69:664-666.

25. Fujita H, Kosaki R, Yoshihashi H, Ogata T, Tomita M, Takahashi T, Matsuo N, Kosaki K. Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis. Teratology 2002 65:10-18.

26. Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Sasaki K, Tomita M, McGinnis W, Matuso N. A complete mutation analysis panel of the 39 human HOX genes. Teratology 2002; 65:50-62.

27. Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. A novel mutation in the FOXL2 gene in a patient with Blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genetics 2002; 23:43-47.

28. Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T. PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. Journal of Clinical Endocrinology and Metabolism 2002; 87:3529-3533.

29. Ogata T, Sato S, Hasegawa Y, Kosaki K. Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features. Endocr J 2003 50:319-324.

30. Sasaki G, Ogata T, Ishii T, Kosaki K, Sato S, Homma K, Takahashi T, Hasegawa T, Matsuo N. Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. Journal of Clinical Endocrinology and Metabolism. 2003 88:3431-3436.

31. Akahoshi K, Sakazume S, Kosaki K, Ohashi H, Fukushima Y. EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. American Journal of Medical Genetics. 2003 120:370-373.

32. Jones KL, Kosaki K, Hall BD. X-linked cubitus valgus with mental retardation and typical face. American Journal of Medical Genetics. 2003 123:33-36.

33. Kosaki K, Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M. Marfanoid habitus with abnormal situs. American Journal of Medical Genetics. 2004; 127A:310-312.

34. Yahagi N, Kosaki R, Ito T, Mitsuhashi T, Shimada H, Tomita M, Takahashi T, Kosaki K. Position-specific expression of Hox genes along the gastrointestinal tract. Congenital Anomalies. 2004; 44:18-26

35. Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T. Premature ovarian failure in a female with proximal symphalangism and noggin mutation. Fertility and Sterility. 2004 81:1137-1139.

36. Kosaki K, Ikeda K, Miyakoshi K, Ueno M, Kosaki R, Takahashi D, Tanaka M, Torikata C Yoshimura Y, Takahashi T. Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. American Journal of Medical Genetics. 2004; 129A:308-311.

37. Fujita H, Yoshii A, Maeda J, Kosaki K, Shishido S, Nakai H, Awazu M. Genitourinary anomaly in congenital varicella syndrome: case report and review. Pediatric Nephrology. 2004;19:554-557.

38. Shimada H, Mori T, Shimasaki N, Shimizu K, Takahashi T, Kosaki K. Somatic PTPN11 mutation with a heterogeneous clonal origin in children with juvenile myelomonocytic leukemia. Leukemia 2004; 18:1142-1144.

39. Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA. Broader geographical spectrum of Cohen syndrome due to COH1 mutations. Journal of Medical Genetics. 2004; 41:e87.

40. Tamame T, Hori N, Homma H, Yoshida R, Inokuchi M, Kosaki K, Takahashi T, Hasegawa T. Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13. American Journal of Medical Genetics. 2004; 129A:321-322.

41. Shimasaki N, Watanabe K, Hara M, Kosaki K. EYA1 Mutation in a Newborn Female Presenting with Cardiofacial Syndrome. Pediatric Cardiology. 2004; 25:411-413.

42. Goto T, Aramaki M, Yoshihashi H, Nishimura G, Hasegawa Y, Takahashi T, Ishii T, Fukushima Y, Kosaki K. Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenital Anomalies, 2004; 44: 225-229.

43. Kosaki K, Tamura K, Sato R, Samejima H, Tanigawara Y, Takahashi T. A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam. Brain and Development 2004 26:530-534.

44. Kosaki R, Mitsui N, Matsushima K, Ohashi H, Kosaki K. Deletion involving the TWIST locus and the HOXA cluster: A contiguous gene syndrome on 7p? Congenital Anomalies, 2005; 45:35-38.

45. Kosaki R, Kosaki K, Matsushima K, Mitsui N, Matsumoto N, Ohashi H. Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication. Congenital Anomalies, 2005; 45:62-64.

46. Udaka T, Udaka T, Torii C, Takahashi D, Mori T, Aramaki M, Kosaki R, Tanigawara Y, Takahashi T, Kosaki K. Comprehensive screening of the thiopurine methyltransferase polymorphisms by using denaturing high-performance liquid chromatography. Genetic Testing, 2005; 9:85-92.

47. Kosaki R, Kosaki K, Kawashima N, Ueoka K, Fukuhara Y, Kosuga M, Honna, T, Okuyama T. OEIS compelx With del(3)(q12.2q13.2). American Journal of Medical Genetics, 2005;135:224-226.

48. Aramaki M, Hokuto I, Matsumoto T, Ishimoto H, Inoue M, Kimura T, Oikawa Y, Ikeda K, Yoshimura Y, Takahashi T, KosakiK. Iridic and Retinal Coloboma Associated With Prenatal Methimazole Exposure. American Journal of Medical Genetics, 2005;139:156-158.

49. Kosaki K, Udaka T, Okuyama T. DHPLC in clinical molecular diagnostic services. Molecular Genetics and Metabolism. 2005; 86:117-23.

50. Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T, Kosaki K. Comprehensive screening of CREBBP mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. Congenital Anomalies, 2005; 45:125-131.

51. Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T. Molecular Pathology of Shprintzen-Goldberg Syndrome. American Journal of Medical Genetics, 2006;140:104-108.

52. Kosaki K, Yamaghishi C, Sato R, Semejima H, Fuijita H, Tamura K, Maeyama K, Yamagishi H, Sugaya A, Dodo H, Tanigawara Y, Takahashi T. 1173C>T polymorphism in VKORC1 modulates the required warfarin dose. Pediatric Cardiology, 27:685-8, 2006.

53. Izumi K, Yahagi N, Fujii Y, Higuchi M, Kosaki R, Naito Y, Nishimura G, Hosokai N, Takahashi T, Kosaki K. Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF. American Journal of Medical Genetics, 2006; 140:398-401.

54. Shimasaki N, Mori T, Samejima H, Sato R, Shimada H, Yahagia N, Torii C, Yoshihara H, Tanigawara Y, Takahashi T, Kosaki K. Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma. Journal of Pediatric Hematology and Oncology, 2006; 28:64-68.

55. Aramaki M, Udaka T, Kosaki R, MakitaY, OkamotoN, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. Journal of Pediatrics, 2006; 148: 410-414.

56. Kosaki R, Kamiishi A, Sugiyama R, Kawai M, Hasegawa T, Kosaki K. Hypothyroidism in Peters plus syndrome. Ophthalmic Genetics, 2006; 27:67-69.

57. Kosaki R, Hanai S, Kakishima H, Okada MA, Hayashi S, Ito Y, Takahashi T, Kosaki K, Okuyama T.Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism. Congenital Amomalies, 2006; 46:115-117.

58. Niu D, Huang J, Li H, Liu K, Wang S, Chen Y, Udaka T, Izumi K, Kosaki K. Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome. Prenatal Diagnosis, 2006; 26:1054-1057.

59. Fujita H, Samejima H, Kitagawa N, Mitsuhashi T, Washio T, Yonemoto J, Tomita M, Takahashi T, Kosaki K. Genome-wide screening of dioxin-responsive genes in fetal brain: bioinformatic and experimental approaches. Congenital Anomalies, 2006; 46:135-143.

60. Udaka T, Kurosawa K, Izumi K, Yoshida S, Tsukahara M, Okamoto N, Torii C, Kosaki R, Masuno M, Hosokai N, Takahashi T, Kosaki K. Screening for partial deletions of CREBBP locus in Rubinstein-Taybi Syndrome patients using multiplex PCR / Liquid chromatography, Genetic Testing, 2006; 10:265-71.

61. Aramaki M, Udaka T, Torii C, Samejima H, Kosaki R, Takahashi T, Kosaki K. Comprehensive screening of CHD7 mutations among patients with CHARGE Syndrome using denaturing high-performance liquid chromatography, Genetic Testing, 2006; 10:244-251.

62. Ogata T, Fujiwara I, Ogawa E, Sato N, Udaka T, Kosaki K. Kallmann Syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocrine Journal, 2006; 53:741-743.

63. Izumi K, Jones KL, Kosaki K, Benirschke K. Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: Evidence regarding developmental pathogenesis. Fetal and Pediatric Pathology, 2006; 25:233-240.

64. Kimura R, Takeshima K, Mizuno S, Kosaki K, Machida J, Kamamoto M, Muro Y, Shimosato K, Wakamatsu N, Sonta S, Ono T. Monopolar preparation of human lymphocytes for evaluation of the metaphase chromosome alignment. Chromosome Science 9: 75-83, 2006.

65. Aramaki M, Kimura T, Udaka T, Kosaki R, Mitsuhashi T, Okada Y, Takahashi T, Kosaki K. Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome. Birth Defects Reseach Part A: Clinical Molecular Teratology, 2007; 79:50-57.

66. Udaka T, Okamoto N, Aramaki M, Torii C, Kosaki R, Hosokai N, Hayakawa T, Takahata N, Takahashi T, Kosaki K. An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. American Journal of Medical Genetics, 2007; 143:721-726.

67. Kosaki R, Okuyama T, Tanaka T, Migita O, Kosaki K. Monozygotic twins of Smith-Magenis syndrome. American Journal of Medical Genetics, 2007; 143:768-769.

68. Torii C, Izumi K, Nakajima H, Takahashi T, Kosaki K. EFNB1 mutation at the ephrin ligand - ephrin receptor dimerization interface in a patient with craniofrontonasal syndrome, Congenital Anomalies, 2007; 47:49-52.

69. Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K. Partial deletion of LIS1: A pitfall in molecular diagnosis of Miller-Dieker syndrome. Pediatric Neurology, 2007; 36:258-260.

70. Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K, Kosaki K. Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.
American Journal of Medical Genetics, 2007; 143: 1087-90.

71. Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T, Kosaki K. Upper airway obstruction in neonates and infants with CHARGE syndrome, American Journal of Medical Genetics, 2007, 143:1815-1820.
72. Izumi K, Aramaki M, Kimura T, Naito Y, Udaka T, Uchikawa M, Kondoh H, Suzuki H, Cho G, Okada Y, Takahashi T, Golden JA, Kosaki K Identification of a prosencephalic-specific enhancer of SALL1: Comparative genomic approach using the chick embryo. Pediatric Research, 61:660-665.

73. Samejima H, Torii C, Kosaki R, Kurosawa K, Yoshihashi H, Muroya K, Okamoto N, Watanabe Y, Kosho T, Kubota M, Matsuda O, Goto M, Izumi K, Takahashi T, Kosaki K. Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography. Genetic Testing, in press.

74. Udaka T, Issei I, Aizu Y, Torii C, Izumi K, Kosaki R, Takahashi T, Hayashi S, Inazawa J, Kosaki K. Multiplex PCR/liquid Chromatography Assay for Screening of Subtelomeric Rearrangements. Genetic Testing, in press.

75. Izumi K, Nakano M, Kosaki K, Kosaki R, Hosokai N, Matsumoto H, Hasegawa T, Takahashi T, Kosaki K. Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family. American Journal of Medical Genetics, in press.

76. Suda N, Hamada T, Hattori M, Torii C, Kosaki K, Moriyama, K. Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2: Possible involvement of non-genetic or epigenetic regulation. Orthodontics and Craniofacial Research, in press.

77. Shiga M, Saito M, Hattori M, Torii C, Kosaki K, Kiyono T, Suda N. Characteristic phenotype of immortalized periodontal cells isolated from a Marfan syndrome type I patient. Cell and Tissue Research, in press

78. Izumi K, Kohta T, Kimura Y, Takahashi T, Ishiko A, Kosaki K. Tietz syndrome: Unique phenotype specific to mutations of MITF nuclear localization signal, Clinical Genetics, in press.

79. Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N Takahashi T, Kosaki K. Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype, American Journal of Medical Genetics, in press.

80. Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.J Clin Endocrinol Metab, in press.

81. Shimasaki N, Mori T, Torii C, Sato R, Shimada H, Tanigawara Y, Kosaki K, Takahashi T. Influence of Methylenetetrahydrofolate Reductase and Reduced Folate Carrier 1 Polymorphisms on Toxicities during Maintenance Chemotherapy for Childhood Acute Lymphoblastic Leukemia or Lymphoma. Journal of pediatric hematology oncology, in press.

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