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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 sitehttps://www.shinshu-u.ac.jp/faculty/medicine/chair/PM/

Modified:09/29/2023

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 Societies
Academic Societies
日本人類遺伝学会
日本遺伝カウンセリング学会
日本遺伝子診療学会
日本小児遺伝学会

Committee of Academic Societies
1999- , The Japan Society of Human Genetics , Councilor
Academic Background
Graduate School
Shinshu University Graduate School , (Doctor of Philosophy , School of Medicine) , 2000

Degree
博士(医学) , Shinshu University School of Medicine
Research Career
Research Career
2013- , Shinshu University School of Medicine, Assistant Professor

Overseas Education
2001-2002 , Baylor College of Medicine, Department of Molecular and Human Genetics, USA

Research

Books, Articles, etc.
Books
細胞遺伝学的検査結果を理解するために −染色体核型記載の基本−, 104-110
メディカルドゥ 2020(Jan.)
Author:涌井敬子


臨床細胞遺伝学
2014


Articles
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Am J Med Genet A,191(1):37-51 2023(Jan.)
Author:Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi N, Ogiwara K, Noda M, Nakada C, Fujiki S, Furutachi A, Tanabe Y, Yamanaka M, Ishikawa A, Mizukami M, Mizuguchi A, Sugiura K, Sumi M, Yamazawa H, Izawa A, Wada Y, Fujikawa T, Takiguchi Y, Wakui K, Takano K, Nishio SY, Kosho T
Abstract:This is the largest Asian case series and the first to apply an amplification-based next-generation sequencing through custom panels of causative genes for HCTDs, including a specific method of evaluating copy number variations. Among 429 patients with suspected HCTDs analyzed, 101 were suspected to have vEDS, and 33 of them (32.4%) were found to have COL3A1 variants. Two patients with a clinical diagnosis of Loeys-Dietz syndrome and/or familial thoracic aortic aneurysm and dissection were also found to have COL3A1 variants. Twenty cases (57.1%) had missense variants leading to glycine (Gly) substitutions in the triple helical domain, one (2.9%) had a missense variant leading to non-Gly substitution in this domain, eight (22.9%) had splice site alterations, three (8.6%) had nonsense variants, two (5.7%) had in-frame deletions, and one (2.9%) had a multi-exon deletion, including two deceased patients analyzed with formalin-fixed and paraffin-embedded samples. This is a clinically useful system to detect a wide spectrum of variants from various types of samples.


Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder
Brain Dev,44(3):229-233 2022(Mar.)
Author:Nishizawa H, Motobayashi M, Akahane M, Wakui K, Kitazawa N, Inaba Y, Fukushima Y, Kosho T.


A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
J Hum Genet.,66(11):1121-1126 2021(Nov.)
Author:Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M.


Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis
Am J Med Genet A.,185(7):2175-2179 2021(Jul.)
Author:Hanafusa H, Hidaka Y, Yamaguchi T, Shimojo H, Tsukahara T, Murase T, Matsuoka D, Chiba N, Shimada S, Morokawa H, Omori N, Minoura H, Nagano C, Takano K, Nakamura K, Wakui K, Fukushima Y, Uehara T, Nakazawa Y, Iijima K, Nozu K, Kosho T.


Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss
Genes (Basel),10(9):715 2019(Sep.)
Author:Sugiyama K, Moteki H, Kitajiri SI, Kitano T, Nishio SY, Yamaguchi T, Wakui K, Abe S, Ozaki A, Motegi R, Matsui H, Teraoka M, Kobayashi Y, Kosho T, Usami SI.


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.


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;


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


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


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


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


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


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


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


Presentations
Three individuals with neurodevelopmental disorders caused by hetero-zygous protein- truncating variants in KMT5B.
The American Society of Human Genetics 68th Annual Meeting 2018
Presenter: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
ヒト染色体構造異常のメカニズム
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)