Hidehito Inagaki

Hidehito Inagaki

UNVERIFIED PROFILE

Are you Hidehito Inagaki?   Register this Author

Register author
Hidehito Inagaki

Hidehito Inagaki

Publications by authors named "Hidehito Inagaki"

Are you Hidehito Inagaki?   Register this Author

66Publications

806Reads

27Profile Views

The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.

Hum Genet 2020 Jun 2. Epub 2020 Jun 2.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-020-02186-8DOI Listing
June 2020

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.

Eur J Med Genet 2019 Nov 8;62(11):103570. Epub 2018 Nov 8.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Japan. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183040
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.11.004DOI Listing
November 2019

Corrigendum to "Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis." [Int. J. Cardiol., 274 (2019) 290-295].

Int J Cardiol 2019 Oct 27;292:283. Epub 2019 Jun 27.

Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2019.06.020DOI Listing
October 2019

Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.

Case Rep Obstet Gynecol 2019 2;2019:6753184. Epub 2019 Oct 2.

Department of Maternal and Fetal Medicine, Miyagi Children's Hospital, Miyagi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2019/6753184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6791227PMC
October 2019

Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures.

J Hum Genet 2019 May 22;64(5):459-466. Epub 2019 Feb 22.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-019-0578-4DOI Listing
May 2019

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

Eur J Med Genet 2019 Mar 18;62(3):224-228. Epub 2018 Jul 18.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan; Center for Collaboration in Research and Education, Fujita Health University, Toyoake, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.07.018DOI Listing
March 2019

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant.

Brain Dev 2019 Mar 2;41(3):285-291. Epub 2018 Nov 2.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2018.10.008DOI Listing
March 2019

promoter-associated lncRNA is essential for myogenic differentiation.

EMBO Rep 2019 03 8;20(3). Epub 2019 Jan 8.

Division for Therapies against Intractable Diseases, Institute for Comprehensive Medical Science (ICMS), Fujita Health University, Toyoake, Japan

View Article

Download full-text PDF

Source
http://embor.embopress.org/lookup/doi/10.15252/embr.20184746
Publisher Site
http://dx.doi.org/10.15252/embr.201847468DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399612PMC
March 2019

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.

Int J Cardiol 2019 Jan 13;274:290-295. Epub 2018 Sep 13.

Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2018.09.032DOI Listing
January 2019

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.

BMC Med Genet 2018 12 12;19(1):210. Epub 2018 Dec 12.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-018-0733-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292170PMC
December 2018

Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia.

Eur J Obstet Gynecol Reprod Biol 2018 11 12;230:200-202. Epub 2018 Sep 12.

Department of Obstetrics & Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejogrb.2018.09.013DOI Listing
November 2018

Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome.

Am J Med Genet A 2018 05;176(5):1245-1248

Genetic Counseling Room, Kagoshima University Hospital, Kagoshima, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38681DOI Listing
May 2018

Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis.

Cytogenet Genome Res 2017 27;153(1):1-9. Epub 2017 Oct 27.

Division of Molecular Genetics, Institute for Comprehensive Medical Science (ICMS), and Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Department of Pediatrics, Toyota Kosei Hospital, Toyota, Department of Obstetrics and Gynecology, Faculty of Medicine, Kagoshima University, and Takeuchi Ladies Clinic/Infertility Center, Kagoshima, and Education Center, Asahikawa Medical University, Hokkaido, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000481586DOI Listing
January 2018

Intragenic deletion detected by whole-genome sequencing in congenital myasthenic syndromes.

Neurol Genet 2017 Jun 3;3(3):e152. Epub 2017 May 3.

Institute of Genetic Medicine (Y.A., A.T., T.E., P.J.L., A.R., H.L.), Newcastle University, UK; Division of Neurology (P.J.L.), Federal University of Parana, Brazil; Leibniz-Institut für Analytische Wissenschaften ISAS e.V. (A.R.), Germany; Department of Neurosciences and Mental Health (P.V.), University of Lisbon, Portugal; and Division of Molecular Genetics (H.I., H.K.), Fujita Health University, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415388PMC
June 2017

A PDE3A mutation in familial hypertension and brachydactyly syndrome.

J Hum Genet 2016 Aug 7;61(8):701-3. Epub 2016 Apr 7.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2016.32DOI Listing
August 2016

Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements.

Front Genet 2016 12;7:125. Epub 2016 Jul 12.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health UniversityToyoake, Japan; Genome and Transcriptome Analysis Center, Fujita Health UniversityToyoake, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2016.00125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940405PMC
July 2016

Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome.

Hum Genome Var 2015 12;2:15003. Epub 2015 Feb 12.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Aichi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2015.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785586PMC
April 2016

A simple cytogenetic method to detect chromosomally integrated human herpesvirus-6.

J Virol Methods 2016 Feb 6;228:74-8. Epub 2015 Nov 6.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jviromet.2015.11.001DOI Listing
February 2016

Preimplantation genetic diagnosis/screening by comprehensive molecular testing.

Reprod Med Biol 2016 01 14;15(1):13-19. Epub 2015 Jul 14.

Department of Obstetrics and Gynecology Fujita Health University School of Medicine 470-1192 Toyoake Aichi Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12522-015-0216-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715840PMC
January 2016

A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.

Am J Med Genet A 2015 Dec 28;167A(12):3192-6. Epub 2015 Sep 28.

Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37359DOI Listing
December 2015

Age-related decrease of meiotic cohesins in human oocytes.

PLoS One 2014 7;9(5):e96710. Epub 2014 May 7.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0096710PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013030PMC
October 2015

Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.

BMC Med Genet 2015 Oct 26;16:98. Epub 2015 Oct 26.

Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-015-0245-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623244PMC
October 2015

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.

Mol Cytogenet 2014 13;7:55. Epub 2014 Aug 13.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake 470-1192, Aichi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-014-0055-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255720PMC
December 2014

Prevalence of Emanuel syndrome: theoretical frequency and surveillance result.

Pediatr Int 2014 Aug;56(4):462-6

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ped.12437
Publisher Site
http://dx.doi.org/10.1111/ped.12437DOI Listing
August 2014

Signature of backward replication slippage at the copy number variation junction.

J Hum Genet 2014 May 20;59(5):247-50. Epub 2014 Mar 20.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.20DOI Listing
May 2014

Dual roles for the telomeric repeats in chromosomally integrated human herpesvirus-6.

Sci Rep 2014 Apr 2;4:4559. Epub 2014 Apr 2.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/srep04559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3972506PMC
April 2014

Identification of an enhancer region for immune activation in the human GTP cyclohydrolase I gene.

Biochem Biophys Res Commun 2013 Dec 9;442(1-2):72-8. Epub 2013 Nov 9.

Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Yokohama 226-8501, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2013.11.002DOI Listing
December 2013

Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations.

Nat Commun 2013 ;4:1592

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ncomms2595
Publisher Site
http://dx.doi.org/10.1038/ncomms2595DOI Listing
June 2013

HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity.

Genes Cells 2012 Nov 8;17(11):897-912. Epub 2012 Oct 8.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/gtc.12005DOI Listing
November 2012

Failure of homologous synapsis and sex-specific reproduction problems.

Front Genet 2012 18;3:112. Epub 2012 Jun 18.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2012.00112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376420PMC
October 2012

Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes.

J Hum Genet 2012 Aug 31;57(8):515-22. Epub 2012 May 31.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/jhg201261
Publisher Site
http://dx.doi.org/10.1038/jhg.2012.61DOI Listing
August 2012

HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes.

Genes Cells 2012 Jun 25;17(6):439-54. Epub 2012 Apr 25.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2443.2012.01600.xDOI Listing
June 2012

Molecular basis of maternal age-related increase in oocyte aneuploidy.

Congenit Anom (Kyoto) 2012 Mar;52(1):8-15

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1741-4520.2011.00350.xDOI Listing
March 2012

Mechanism of complex gross chromosomal rearrangements: a commentary on concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.

J Hum Genet 2012 Feb 15;57(2):81-3. Epub 2011 Dec 15.

The Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2011.143DOI Listing
February 2012

DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.

Mol Cytogenet 2011 Sep 8;4:18. Epub 2011 Sep 8.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1755-8166-4-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197554PMC
September 2011

Characterization of a novel mouse gene encoding an SYCP3-like protein that relocalizes from the XY body to the nucleolus during prophase of male meiosis I.

Biol Reprod 2011 Jul 30;85(1):165-71. Epub 2011 Mar 30.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1095/biolreprod.110.087270DOI Listing
July 2011

Paternal origin of the de novo constitutional t(11;22)(q23;q11).

Eur J Hum Genet 2010 Jul 24;18(7):783-7. Epub 2010 Feb 24.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2010.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987363PMC
July 2010

Genetic variation in the indoleamine 2,3-dioxygenase gene in pre-eclampsia.

Am J Reprod Immunol 2010 Jul 28;64(1):68-76. Epub 2010 Feb 28.

Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1600-0897.2010.00820.xDOI Listing
July 2010

Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans.

J Hum Genet 2010 May 26;55(5):293-9. Epub 2010 Mar 26.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/jhg201026
Publisher Site
http://dx.doi.org/10.1038/jhg.2010.26DOI Listing
May 2010

Recent advance in our understanding of the molecular nature of chromosomal abnormalities.

J Hum Genet 2009 May 17;54(5):253-60. Epub 2009 Apr 17.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2009.35DOI Listing
May 2009

Two different forms of palindrome resolution in the human genome: deletion or translocation.

Hum Mol Genet 2008 Apr 9;17(8):1184-91. Epub 2008 Jan 9.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddn008DOI Listing
April 2008

Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm.

Fertil Steril 2007 Nov 19;88(5):1446-8. Epub 2007 Apr 19.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S001502820700129
Publisher Site
http://dx.doi.org/10.1016/j.fertnstert.2007.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810970PMC
November 2007

Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats.

Nucleic Acids Res 2007 30;35(4):1198-208. Epub 2007 Jan 30.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
Publisher Site
http://dx.doi.org/10.1093/nar/gkm036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1851657PMC
April 2007

Molecular cloning of a translocation breakpoint hotspot in 22q11.

Genome Res 2007 Apr 31;17(4):461-9. Epub 2007 Jan 31.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/gr.5769507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1832093PMC
April 2007

Palindrome-mediated chromosomal translocations in humans.

DNA Repair (Amst) 2006 Sep 10;5(9-10):1136-45. Epub 2006 Jul 10.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.dnarep.2006.05.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824556PMC
September 2006

Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22).

Am J Hum Genet 2006 Sep 1;79(3):524-38. Epub 2006 Aug 1.

Genetics Department, School of Medicine, Yale University, New Haven, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/507652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559541PMC
September 2006

Chromosomal translocations mediated by palindromic DNA.

Cell Cycle 2006 Jun 15;5(12):1297-303. Epub 2006 Jun 15.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/cc.5.12.2809DOI Listing
June 2006

Genetic variation affects de novo translocation frequency.

Science 2006 Feb;311(5763):971

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake Aichi 470-1192, Japan [corrected]

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1121452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2818512PMC
February 2006

Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.

Hum Mutat 2005 Oct;26(4):332-42

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake,Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2818517PMC
October 2005

Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations.

J Biol Chem 2004 Aug 20;279(34):35377-83. Epub 2004 Jun 20.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M400354200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810964PMC
August 2004

The tyrosinase gene of the i(b) albino mutant of the medaka fish carries a transposable element insertion in the promoter region.

Pigment Cell Res 2004 Apr;17(2):158-64

Division of Biological Science, Graduate School of Science, Nagoya University, Nagoya, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1600-0749.2003.00122.xDOI Listing
April 2004

Generation of human artificial chromosomes expressing naturally controlled guanosine triphosphate cyclohydrolase I gene.

Genes Cells 2002 Oct;7(10):1021-32

Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1365-2443.2002.00580.xDOI Listing
October 2002

Enhanced expression of GTP cyclohydrolase I in V-1-overexpressing PC12D cells.

Biochem Biophys Res Commun 2002 May;293(3):962-8

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0006-291X(02)00343-1DOI Listing
May 2002