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Wakui Keiko

Academic OrganizationAcademic Assembly School of Medicine and Health Sciences Institute of MedicineTEL81-263-37-2618
Education and Research OrganizationSchool of Medicine Department of Medical GeneticsFAX81-263-37-2619
PositionSenior Assistant ProfessorMail Address
AddressDepartment of Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanWeb sitehttp://www.shinshu-u.ac.jp/faculty/medicine/chair/PM/

Modified:07/06/2020

Profile

Research Field
Molecular Cytogenetics
Medical Genetics
Cytogenetics
Clinical Cytogenetics
Keywords:Chromosome abnormalities , Structural chromosomal abnormalities , Chromosomal rearrangements , Genomic variants , Metaphase FISH analyses of rearranged chromosomes , DNA sequencing of chromosomal rearrangements , Genomic mechanisms , Gene expression , Non-genomic mechanisms , Nuclear Architecture
Current Subject
Genomic Variants and Gene expression
Keywords:Genomic Variants , Structural variation , gene expression
molecular cytogenetic research of chromosomal structural abnormalities
Keywords:chromosomal structural abnormalities , metaphase FISH analyses
Nuclear Architecture of human genome and gene expression
Keywords:Nuclear Architecture , gene expression , epigenetic mechanism
Academic Background
Graduate School
Shinshu University Graduate School , (Doctor of Philosophy , School of Medicine) , 2000

Degree
Shinshu University School of Medicine
Research Career
Overseas Education
2001-2002 , Baylor College of Medicine, Department of Molecular and Human Genetics, USA

Research

Books, Articles, etc.
Articles
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,179(6):948-957 2019(Jun.)
Author:Yamaguchi, Tomomi; Takano, Kyoko; Inaba, Yuji; Morikawa, Manami; Motobayashi, Mitsuo; Kawamura, Rie; Wakui, Keiko; Nishi, Eriko; Hirabayashi, Shin-ichi; Fukushima, Yoshimitsu; Kato, Hiroyuki; Takahashi, Jun; Kosho, Tomoki;


Frequency and clinical features of hearing loss caused by STRC deletions
SCIENTIFIC REPORTS,9:4408 2019
Author:Yokota, Yoh; Moteki, Hideaki; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Kobayashi, Yumiko; Ohyama, Kenji; Miyazaki, Hiromitsu; Matsuoka, Rina; Abe, Satoko; Kumakawa, Kozo; Takahashi, Masahiro; Sakaguchi, Hirofumi; Uehara, Natsumi; Ishino, Takashi; Kosho, Tomoki; Fukushima, Yoshimitsu; Usami, Shin-ichi;


Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,103(6):2083-2088 2018(Jun.)
Author:Kawashima, Sayaka; Nakamura, Akie; Inoue, Takanobu; Matsubara, Keiko; Horikawa, Reiko; Wakui, Keiko; Takano, Kyoko; Fukushima, Yoshimitsu; Tatematsu, Toshi; Mizuno, Seiji; Tsubaki, Junko; Kure, Shigeo; Matsubara, Yoichi; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo;


Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.
Hum Genome Var,5:6 2018(May 21)
Author:Morokawa H, Kamiya M, Wakui K, Kobayashi M, Kurata T, Matsuda K, Kawamura R, Kanno H, Fukushima Y, Nakazawa Y, Kosho T.


Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients
HORMONE RESEARCH IN PAEDIATRICS,90:432-432 2018
Author:Kawashima, Sayaka; Nakamura, Akie; Inoue, Takanobu; Matsubara, Keiko; Horikawa, Reiko; Wakui, Keiko; Takano, Kyoko; Fukushima, Yoshimitsu; Tatematsu, Toshi; Mizuno, Seiji; Tsubaki, Junko; Kure, Shigeo; Matsubara, Yoichi; Ogata, Tsutomu; Nagasaki, Keisuke; Fukami, Maki; Kagami, Masayo;


CTCF deletion syndrome: clinical features and epigenetic delineation.
J Med Genet,54(12):836-842 2017(Dec.)
Author:Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa K, Saitoh S.


A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
Hum Genome Var,4:17052 2017(Oct. 26)
Author:Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y.


Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
Eur J Med Genet,60(10):521-526 2017(Oct.)
Author:Takano K, Goto K, Motobayashi M, Wakui K, Kawamura R, Yamaguchi T, Fukushima Y, Kosho T.


Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Ann Otol Rhinol Laryngol,125(11):918-923 2016(Nov.)
Author:Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI.


Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Am J Med Genet A,170A(2):322-328 2016(Feb.)
Author:Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.


Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).
Am J Med Genet A,167A(3):592-601 2015(Mar.)
Author:Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T.


Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21)
Mol Cytogenet. ,7:55 2014
Author:Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H.


Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
Am J Med Genet A. ,164A:1272-1276 2014
Author:Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T.


Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
Am J Med Genet A. ,164A:597-609 2014
Author:Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Tsutomu OI, Kawame H, Narumi Y, Ohashi H, Fukushima Y.


Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction.
J Hum Genet.,59:591-592 2014
Author:Wakui K


Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
JOURNAL OF HUMAN GENETICS,58(8):560-563 2013(Aug.)
Author:Tanaka, K; Sekijima, Y; Yoshida, K; Tamai, M; Kosho, T; Sakurai, A; Wakui, K; Ikeda, S; Fukushima, Y


Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Am J Med Genet A.,161A:1221-1237 2013
Author:Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N.


Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
Clin Genet. ,83:135-144 2013
Author:Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N.


子宮内胎児死亡の原因検索に頬粘膜細胞による間期核FISH法が有用であった1症例
臨床病理,60(1):32-36 2012(Jan. 25)
Author:竹澤 由夏; 古庄 知己; 松田 和之; 平 千明; 伊藤 友里花; 日高 惠以子; 菅野 光俊; 鳴海 洋子; 水内 麻子; 小原 久典; 涌井 敬子; 奥村 伸生; 福嶋 義光; 本田 孝行;
Keywords:螢光 in situ ハイブリダイゼーション; 頬粘膜細胞; 子宮内胎児死亡; トリプロイディー症候群;


Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.
Chromosome Res.,20:659-672 2012
Author:Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K


Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.
Am J Med Genet A,158A:861-8 2012
Author:Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K


Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.
Autism Res Treat.,2012:724072 2012
Author:Yanagi K, Kaname T, Wakui K, Hashimoto O, Fukushima Y, Naritomi K.


Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
Am J Med Genet A,158A:412-6 2012
Author:Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y.


Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Nat Genet,44:376-378 2012
Author:Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N


Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD Syndrome and a novel PTPN11 mutation Gln510His.
Am J Med Genet A,155A:2529-2533 2011
Author:Wakabayashi Y, Yamazaki K, Narumi Y, Fuseya S, Horigome M, Wakui K, Fukushima Y, Matsubara Y, Aoki Y, Kosho T


Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
Hum Genet,56:156-60 2011
Author:Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H,Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, Matsumoto N


A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered L-serine level associated with disruption of PSAT1 gene expression.
Neurosci Res,69:154-60 2011
Author:Ozeki Y, Pickard BS, Kano SI, Malloy MP, Zeledon M, Sun DQ, Fujii K, Wakui K, Shirayama Y, Fukushima Y, Kunugi H, Hashimoto K, Muir WJ, Blackwood DH, Sawa A


遺伝子診療を理解するための遺伝医学の基礎 臨床細胞遺伝学 (遺伝子診療学(第2版)--遺伝子診断の進歩とゲノム治療の展望) -- (遺伝子診断)
日本臨床,68:13-19 2010(Aug.)
Author:涌井 敬子;
Keywords:細胞遺伝学; 染色体異常; viable; 出生に至る; 染色体不分離; 均衡型相互転座;


研究から診療に向けた社会的基盤整備 遺伝学的検査に関する資格と人材育成 (遺伝子診療学(第2版)--遺伝子診断の進歩とゲノム治療の展望) -- (遺伝子診断)
日本臨床,68:299-304 2010(Aug.)
Author:涌井 敬子;
Keywords:遺伝学的検査; genetic testing; laboratory geneticist; 生殖細胞系列変異; germline mutation;


Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
Am J Med Genet A,152A:764-769 2010
Author:Yamazaki M, Kosho T (equal contribution, corresponding author), Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y


Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Hum Mutat,31:966-974 2010
Author:. Miyake N, Kosho T (equal contribution), Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N


A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Multiple Congenital Contractures, Progressive Joint and Skin Laxity, and Multisystem Fragility-related Manifestations.
Am J Med Genet A,152A:1333-1346 2010
Author:Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N


Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
Am J Med Genet A,152A:417-421 2010
Author:Muramatsu Y, Kosho T (corresponding author), Magota M, Yokotsuka T, Ito M, Yasuda A, Kito O, Suzuki C, Nagata Y, Kawai S, Ikoma M, Hatano T, Nakayama M, Kawamura R, Wakui K, Morisaki H, Morisaki T, Fukushima Y


Identification of a high incidence region for retroviral vector integration near exon 1 of the LMO2 locus
RETROVIROLOGY,6:79 2009(Sep.)
Author:Yamada, Koichiro; Tsukahara, Tomonori; Yoshino, Kazuhisa; Kojima, Katsuhiko; Agawa, Hideyuki; Yamashita, Yuki; Amano, Yuji; Hatta, Mariko; Matsuzaki, Yasunori; Kurotori, Naoki; Wakui, Keiko; Fukushima, Yoshimitsu; Osada, Ryosuke; Shiozawa, Tanri; Sakashita, Kazuo; Koike, Kenichi; Kumaki, Satoru; Tanaka, Nobuyuki; Takeshita, Toshikazu


医学部新入生は「遺伝」をどうとらえているか : 遺伝医学教育充実の必要性
医学教育 = Medical education,39(2):97-101 2008(Apr. 25)
Author:櫻井 晃洋; 古庄 知己; 和田 敬仁; 涌井 敬子; 福嶋 義光;
Keywords:遺伝医学; モデル・コア・カリキュラム; リテラシー; 高校指導要領;


De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment
CLINICAL DYSMORPHOLOGY,17(1):31-34 2008(Jan.)
Author:Kosho, Tomoki; Sakazume, Satoru; Kawame, Hiroshi; Wakui, Keiko; Wada, Takahito; Okoshi, Yumi; Mikawa, Makoto; Hasegawa, Tomonobu; Matsuura, Nobuo; Niikawa, Norio; Matsumoto, Naomichi; Fukushima, Yoshimitsu;


Bilateral Perisylvian Polymicrogyria, Periventricular Nodular Heterotopia, and Left Ventricular Noncompaction in a Girl With 10.5-11.1 Mb Terminal Deletion of 1p36
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,146A(22):2891-2897 2008
Author:Saito, Shoji; Kawamura, Rie; Kosho, Tomoki; Shimizu, Takashi; Aoyama, Koki; Koike, Kenichi; Wada, Takahito; Matsumoto, Naotnichi; Kato, Mitsuhiro; Wakui, Keiko; Fukushima, Yoshimitsu;


Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan
JOURNAL OF HUMAN GENETICS,52(8):675-679 2007(Aug.)
Author:Yoshida, Kunihiro; Wada, Takahito; Sakurai, Akihiro; Wakui, Keiko; Ikeda, Shu-ichi; Fukushima, Yoshimitsu;


A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12
JOURNAL OF HUMAN GENETICS,52(2):179-190 2007(Feb.)
Author:Onouchi, Yoshihiro; Tamari, Mayumi; Takahashi, Atsushi; Tsunoda, Tatsuhiko; Yashiro, Mayumi; Nakamura, Yoshikazu; Yanagawa, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Kawasaki, Tomisaku; Nakamura, Yusuke; Hata, Akira;


A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia
CANCER GENETICS AND CYTOGENETICS,176(2):137-143 2007
Author:Hidaka, Eiko; Tanaka, Miyuki; Matsuda, Kazuyuki; Ishikawa-Matsumura, Masayo; Yamauchi, Kazuyoshi; Sano, Kenji; Honda, Takayuki; Wakui, Keiko; Yanagisawa, Ryu; Nakazawa, Yozo; Sakashita, Kazuo; Shiohara, Masaaki; Ishii, Eizaburo; Koike, Kenichi;


Mandibuloacral dysplasia and a novel LMNA mutationin in a woman with severe progressive skeletal changes
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,143A(21):2598-2603 2007
Author:Kosho, Tomoki; Takahashi, Jun; Momose, Takashige; Nakamura, Akinori; Sakurai, Akihiro; Wada, Takahito; Yoshida, Kunihiro; Wakui, Keiko; Suzuki, Takefumi; Kasuga, Kazuo; Nishimura, Gen; Kato, Hiroyuki; Fukushima, Yoshimitsu;


Molecular characterizationof a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities
JOURNAL OF HUMAN GENETICS,51(4):335-340 2006
Author:Haider, S; Matsumoto, R; Kurosaiva, N; Wakui, K; Fukushima, Y; Isobe, M


【遺伝子診療学 遺伝子診断の進歩と遺伝子治療の展望】遺伝子診断(genetic diagnosis)(遺伝学的検査genetic testing,遺伝子検査gene-based testing,核酸検査nucleic acid-based testing) 検査法,解析技術 細胞遺伝学的解析法(染色体検査法,FISH法)
日本臨床,63:162-166 2005
Author:涌井敬子


【そこが知りたい小児臨床検査のポイント】染色体・遺伝子検査 生殖細胞系列の染色体検査結果の解釈と遺伝カウンセリングの必要性
小児内科,37:640-644 2005
Author:涌井敬子,福嶋義光


医学教育における遺伝カウンセリング・ロールプレイ実習
家族性腫瘍,5:51-56 2005
Author:櫻井晃洋,古庄知己,和田敬仁,涌井敬子,川目 裕,玉井眞理子,福嶋義光


Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation
Mol Genet Metab,86:257-268 2005
Author:Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B


Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS
Am J Hum Genet,77:161-168 2005
Author:Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B


Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats
Hum Mol Genet,14(4):535-542 2005
Author:Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR


Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome
Am J Med Genet A,133:180-183 2005
Author:Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL


Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
Eur J Hum Genet,138:528-540 2005
Author:Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG


Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1) t(1;1) (p36; q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements
Hum Genet,114:198-206 2004
Author:Ballif BC, Wakui K, Gajecka M, Shaffer LG


The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus
J Hum Genet,49(7):360-365 2004
Author:Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N


CD40 ligand gene and Kawasaki disease
EUROPEAN JOURNAL OF HUMAN GENETICS,12(12):1062-1068 2004
Author:Onouchi Y, Onoue S, Tamari M, Wakui K, Fukushima Y, Yashiro M, Nakamura Y, Yanagawa H, Kishi F, Ouchi K, Terai M, Hamamoto K, Kudo F, Aotsuka H, Sato Y, Nariai A, Kaburagi Y, Miura M, Saji T, Kawasaki T, Nakamura Y, Hata A


染色体検査 (増刊号 小児外来の検査の要領と診断への活かし方) -- (生検-遺伝子検査)
小児科臨床,56:1472-1480 2003
Author:和田 敬仁; 涌井 敬子; 福嶋 義光;
Keywords:FISH法; 遺伝子カウンセリング; 臨床遺伝専門医;


A genome wide search for KawasakiDisease susceptibility genes
AMERICAN JOURNAL OF HUMAN GENETICS,73(5):492-492 2003
Author:Onouchi, Y; Onoue, S; Tamari, M; Wakui, K; Fukushima, Y; Yashiro, M; Nakamura, Y; Yanagawa, H; Kawasaki, T; Nakamura, Y; Hata, A


【小児外来の検査の要領と診断への活かし方】生検 遺伝子検査 染色体検査
小児科臨床,56:1472-1480 2003
Author:和田敬仁,涌井敬子,福嶋義光


グリセロールキナーゼ欠損症を伴った先天性副腎低形成の1症例
奈良医学雑誌,54:305-311 2003
Author:村上智彦,上辻秀和,中野智巳,金 一,西久保敏也,木里頼子,石川直子,桑原 勲,坂上哲也,涌井敬子,福嶋義光


Genome architecture catalyzes nonrecurrent chromosomal rearrangements
Am J Hum Genet,72:1101-1116 2003
Author:Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR


Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes
Hum Mol Genet,12:1823-1837 2003
Author:Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE


‘Severe’ Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t (15, 22) (q14; q11.2) translocation
Clin Genet,63:79-81 2003
Author:Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T


Three novel DNMT3B mutations in Japanese patients with ICF syndrome
Am J Med Genet,112(1):31-37 2002
Author:Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, SuetakeI, Tajima T, Wakui K,Miki Y, Hayashi M, Fukushima Y, Sasaki H


Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression
J Hum Genet,47(10):511-516 2002
Author:Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y


The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females
Cytogenet Genome Res,99(1-4):276-284 2002
Author:Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, Kida T, OkamotoN, Matsumura M, Muroya K, Ogata T, Goto Y, Fukushima Y


Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses
AMERICAN JOURNAL OF MEDICAL GENETICS,99(1):59-62 2001
Author:Seki, H; Kubota, T; Ikegawa, S; Haga, N; Fujioka, F; Ohzeki, S; Wakui, K; Yoshikawa, H; Takaoka, K; Fukushima, Y


Progressive scoliosis in cri-du-chat syndrome over a 20-year follow-up period - A case report
SPINE,26(7):835-837 2001
Author:Saito, N; Ebara, S; Fukushima, Y; Wakui, K; Takaoka, K


Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1
JOURNAL OF BIOLOGICAL CHEMISTRY,276(15):11469-11472 2001
Author:Saito, T; Kinoshita, A; Yoshiura, K; Makita, Y; Wakui, K; Honke, K; Niikawa, N; Taniguchi, N


A familial 14Mb interstitial deletion of 21q11-q21.3 confirmed by FISH using sub-regional-specific DNA clones.
AMERICAN JOURNAL OF HUMAN GENETICS,69(4):331-331 2001
Author:Wakui, K; Toyoda, A; Hattori, M; Kubota, T; Hidaka, E; Ishikawa, M; Katsuyama, T; Sakaki, Y; Fukushima, Y


Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1
AMERICAN JOURNAL OF MEDICAL GENETICS,104(3):250-256 2001
Author:Miyoshi, O; Yabe, R; Wakui,K; Fukushima, Y; Koizumi, S; Uchikawa, M; Kajii, T; Numakura, C; Takahashi, S; Hayasaka, K; Niikawa, N


Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease
PRENATAL DIAGNOSIS,21(13):1133-1136 2001
Author:Inoue, K; Kanai, M; Tanabe, Y; Kubota, T;Kashork, CD; Wakui, K; Fukushima, Y; Lupski, JR; Shaffer, LG


習慣性流産とX染色体モノソミー低頻度モザイク -頬粘膜細胞と末梢血リンパ球細胞を用いた間期核FISH法による解析-
臨床病理,48(10):955-959 2000(Oct. 25)
Author:石川 雅世; 日高 惠以子; 涌井 敬子; 中山 邦章; 高木 靖; 福嶋 義光; 勝山 努;
Keywords:習慣流産; X染色体モノソミーモザイク; FISH法;


Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3
AMERICAN JOURNAL OF HUMAN GENETICS,66(1):143-147 2000
Author:Ghadami, M; Makita, Y; Yoshida, K; Nishimura, G; Fukushima, Y; Wakui, K; Ikegawa, S; Yamada, K; Kondo, S; Niikawa, N; Tomita, H


Structural analysis of a rare rearranged Y chromosome and itsbearing on genotype-phenotype correlation
AMERICAN JOURNAL OF MEDICAL GENETICS,92(4):256-259 2000
Author:Ogata, T; Wakui, K; Kosho, T; Muroya, K; Yamanouchi, Y; Takano, T; Fukushima, Y; Rappold, G; Suzuki, Y


A locus for an autosomal dominant posterior polar cataract on chromosome 20.
INVESTIGATIVE OPHTHALMOLOGY&VISUAL SCIENCE,41(4):S2-S2 2000
Author:Yamada, K; Tomita, H; Yoshiura, K; Kondo, S; Wakui, K; Fukushima, Y; Ikegawa, S; Nakamura, Y; Amemiya, T; Niikawa, N


An autosomal dominant posterior polar cataract locus maps to human chromosome 20pl 12-q12
EUROPEAN JOURNAL OF HUMAN GENETICS,8(7):535-539 2000
Author:Yamada, K; Tomita, H; Yoshiura, K; Kondo, S; Wakui, K; Fukushima, Y; Ikegawa, S; Nakamura, Y; Amemiya, T; Niikawa, N


Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM,85(9):3094-3100 2000
Author:Muroya, K; Okuyama, T; Goishi, K; Ogiso, Y; Fukuda, S; Kameyama, J; Sato, H; Suzuki, Y; Terasaki, H; Gomyo, H; Wakui, K; Fukushima, Y; Ogata, T


Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?
AMERICAN JOURNAL OF MEDICAL GENETICS,94(4):265-270 2000
Author:Ishikawa, S; Ishikawa, M; Tokuda, T; Yoshida, K; Wakui, K; Matsuura, S; Ohara, S; Sekijima, Y; Hidaka, E; Fukushima, Y; Shigeta, H; Komatsu, K; Ikeda, S


Severity of developmental delay is associated with the proportion of cells with functional X disomy in female patients with mosaic for small ring X chromosomes.
AMERICAN JOURNAL OF HUMAN GENETICS,67(4):157-157 2000
Author:Kubota, T; Wakui, K; Watanabe, Y; Yoshino, M; Okamoto, N; Kida, T; Ohashi, H; Fukushima, Y


Jumping translocations of 9q onto 14p, 13q and 7q, and pseudo isochromosome 9p results in 9p trisomy syndrome.
AMERICAN JOURNAL OF HUMAN GENETICS,67(4):152-152 2000
Author:Wakui, K; Hidaka, E; Ishikawa, M; Ichikawa, M; Katsuyama, T; Fukushima, Y


Genetic evidence for a novel gene(s) involved in urogenital development on 10q26
KIDNEY INTERNATIONAL,58(6):2281-2290 2000
Author:Ogata, T; Muroya, K; Sasagawa, I; Kosho, T; Wakui, K; Sakazume, S; Ito, K; Matsuo, N; Ohashi, H; Nagai, T


Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM,85(8):2927-2930 2000
Author:Ogata, T; Kosho, T; Wakui, K; Fukushima, Y; Yoshimoto, M; Miharu, N


A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
HUMAN GENETICS,104(1):49-55 1999
Author:Kubota, T;Nonoyama, S; Tonoki, H; Masuno, M; Imaizumi, K; Kojima, M; Wakui, K; Shimadzu, M; Fukushima, Y


Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies
JOURNAL OF HUMAN GENETICS,44(2):85-90 1999
Author:Wakui, K; Tanemura, M; Suzumori, K; Hidaka, E; Ishikawa, M; Kubota, T; Fukushima, Y


A gene responsible for paroxysmal kinesigenic choreoathetosis mapped to chromosome 16p11.2-g12.1.
AMERICAN JOURNAL OF HUMAN GENETICS,65(4):A449-A449 1999
Author:Tomita, H; Yamada, K; Niikawa, N; Nakane, Y; Nagamitsu, S; Matsuishi, T; Wakui, K; Fukushima, Y; Kato, N


A familial interstitial deletion of 21q. It is possible for a recessive gene responsible for mental retardation to exist within 21q11-21.
AMERICAN JOURNAL OF HUMAN GENETICS,65(4):A362-A362 1999
Author:Wakui, K; Kubota, T; Hidaka, E; Ishikawa, M; Katsuyama, T; Fukushima, Y


Aberrant DNA methylation occurs in multiple genes in esophageal cancer tissues.
AMERICAN JOURNAL OF HUMAN GENETICS,65(4):A40-A40 1999
Author:Kbota, T; Seki, H; Wakui, K; Adachi, W; Nasu, T; Fukushima, Y


Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
AMERICAN JOURNAL OF HUMAN GENETICS,65(6):1688-1697 1999
Author:Tomita, H; Nagamitsu, S; Wakui, K; Fukushima, Y; Yamada, K; Sadamatsu, M; Masui, A; Konishi, T; Matsuishi, T; Aihara, M; Shimizu, K; Hashimoto, K; Mineta, M; Matsushima, M; Tsujita, T; Saito, M; Tanaka, H; Tsuji, S; Takagi, T; Nakamura, Y; Nanko, S; Kato, N; Nakane, Y; Niikawa, N


4q33-qter deletion and absorptive hypercalciuria: Report of two unrelated girls
AMERICAN JOURNAL OF MEDICAL GENETICS,78(1):52-54 1998
Author:Imamura, K; Tonoki, H; Wakui, K; Fukushima, Y; Sasaki, S; Yausda, K; Takekoshi, Y; Tochimaru, H


Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern
HUMAN GENETICS,103(1):51-56 1998
Author:Ogata, T; Wakui, K; Muroya, K; Ohashi, H; Matsuo, N; Brown, DM; Ishii, T; Fukushima, Y


Assignment of human fatty-acid-Coenzyme A ligase, very long-chain 1 gene (FACVL1) to human chromosome band 15q21.2 by fluorescence in situ hybridization
CYTOGENETICS AND CELL GENETICS,81(3-4):292-293 1998
Author:Wakui, K; Aoyama, T; Uchiyama, A; Hashimoto, T; Fukushima, Y


Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome
CLINICAL GENETICS,54(3):199-202 1998
Author:Kubota, T; Sakurai, A; Arakawa, K; Shimazu, M; Wakui, K; Furihata, K; Fukushima, Y


副腎白質ジストロフィーの病態解析-ヒト極長鎖脂肪酸活性化酵素のcDNAクローニングとその染色体座位
日本先天代謝異常学会雑誌,13(3):- 1997(Oct. 15)
Author:内山 温; 青山 俊文; 上条 桂樹; 涌井 敬子; 福島 義光; 張 忠義; 下澤 伸行; 鈴木 康之; 近藤 直実; 折居 忠夫; 橋本 隆;


ヒトスクアレン・エポキシダーゼ遺伝子の染色体マッピングとプロモーター解析
脂質生化学研究,39:303-306 1997(Jun. 13)
Author:永井 雅昭; 榊原 順; 小野 輝夫; 涌井 敬子; 福嶋 義光; 五十嵐 修一; 辻 省次; 荒川 正昭;


FISH法により診断される染色体異常症
小児科,38:37-46 1997
Author:涌井敬子;


Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13
AMERICAN JOURNALOF MEDICAL GENETICS,68(1):70-73 1997
Author:Kim, KC; Wakui, K; Yamagishi, A; Ohno, T; Sato, M; Imaizumi, S; Aihara, T; Fukushima,Y; Ohashi, H


Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency
HUMAN MOLECULAR GENETICS,6(8):1215-1224 1997
Author:Orii, KE; Aoyama, T; Wakui, K; Fukushima, Y; Miyajima, H; Yamaguchi, S; Orii, T; Kondo, N; Hashimoto, T


Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1
GENOMICS,44(1):141-143 1997
Author:Nagai, M; Sakakibara, J; Wakui, K; Fukushima, Y; Igarashi, S; Tsuji, S; Arakawa, M; Ono, T


HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)
AMERICAN JOURNAL OF MEDICAL GENETICS,73(4):416-418 1997
Author:Hasegawa,T; Hasegawa, Y; Aso, T; Koto, S; Nagai, T; Tsuchiya, Y; Kim, KC; Ohashi, H; Wakui, K; Fukushima, Y


Advanced diagnosis of chromosome aberrations by FISH analysis with telomeric probes.
AMERICAN JOURNAL OF HUMAN GENETICS,61(4):A142-A142 1997
Author:Wakui, K; Kubota, T; Suzumori, K; Ogata, T; Ledbetter, DH; Fukushima, Y


Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution
CYTOGENETICS AND CELL GENETICS,79(3-4):221-224 1997
Author:Aoyama, T; Wakui, K; Orii, KE; Hashimoto, T; Fukushima, Y


Interstitial duplication 8q22-q24: Report of a case proven by FISH with mapped cosmid probes
AMERICAN JOURNAL OF MEDICAL GENETICS,65(1):36-39 1996
Author:Wakui, K; Ohashi, H; Yamagishi, A; Hamano, S; Nara, T; Ishikiriyama, S; Nakamura, Y; Fukushima, Y


Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization
GENOMICS,37(1):144-145 1996
Author:Aoyama, T; Wakui, K; Fukushima, Y; Orii, KO; Hashimoto, T


TETRAMELIC MIRROR-IMAGE LIKE POLYDACTYLY AND DE-NOVO BALANCED AUTOSOMAL TRANSLOCATION [46,XY,T(2-14)(P23.2-Q13)]
AMERICAN JOURNAL OF HUMAN GENETICS,57(4):543-543 1995
Author:OHASHI, H; KIN, Y; IWASAKI, M; OHNO, T; SATO, M; IMAIZUMI, S; AIHARA, T; YAMAGISHI, A; WAKUI, K; FUKUSHIMA, Y


先天異常の染色体分析第3報
埼小医セ誌,8:48-54 1991
Author:涌井敬子;


Presentations
Three individuals with neurodevelopmental disorders caused by hetero-zygous protein- truncating variants in KMT5B.
2018
Author:Kyoko Takano, Tetsuhiro Fukuyama, Mitsuo Motobayashi, Machiko Hosoya, Tomomi Yamaguchi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima, Tomoki Kosho

Themes for Joint Research
gene expression and epigenetic mechanism
genomic variants and gene expression
Research Grants
Grants‐in‐aid for Scientific Research(Research Representative)
2015 - 2017 , RNA-FISH法による1細胞発現解析とエピジェネティックメカニズムに関する研究 , 基盤研究(C)
2012 - 2013 , 相同染色体上の遺伝子領域間三次元核内配置と遺伝子発現に関する研究 , 挑戦的萌芽研究
2008 - 2010 , 構成的染色体異常部位近傍の候補遺伝子の核内3次元配置の変化と位置効果に関する研究 , 基盤研究(C)
2006 - 2007 , 均衡型染色体構造異常の転座切断点近傍の候補遺伝子の核内配置と位置効果に関する研究 , 基盤研究(C)