List of works - Hidehito Inagaki

A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.

scientific article published in January 2018

A PDE3A mutation in familial hypertension and brachydactyly syndrome

scientific article published on 7 April 2016

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

scientific article published on 10 April 2020

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

article

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.

scientific article published on 28 April 2017

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

scientific article published on 5 November 2015

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

scientific article published on 28 September 2015

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

scientific article

Age-related decrease of meiotic cohesins in human oocytes

scientific article

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

scientific article published on 27 November 2020

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

scientific article

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

scientific journal article

Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.

scientific article published on 7 November 2008

Chromosomal translocations mediated by palindromic DNA.

scientific article

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

scientific article published on 12 September 2018

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

scientific article published on 27 June 2019

Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

scientific article

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

scientific article

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

scientific article published on 30 January 2007

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

scientific article

Deficiency of <i>Vgll2</i> Gene Alters the Gene Expression Profiling of Skeletal Muscle Subjected to Mechanical Overload

scientific article published on 09 October 2019

Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

scientific article

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

scientific article published on 02 April 2014

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

scientific journal article

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

scientific article published on 02 October 2019

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

article

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

article

Failure of homologous synapsis and sex-specific reproduction problems ⬇️

scientific article published on June 18, 2012

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis

scientific article published on 13 September 2018

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

scientific article published on October 2002

Genetic variation affects de novo translocation frequency.

scientific article published on February 2006

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

scientific article published on 28 February 2010

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

scientific article

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

scientific article published on 31 July 2018

HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes

scientific journal article

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

scientific journal article

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

scientific article published on 9 November 2013

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

scientific article published on 12 February 2015

Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.

scientific article published on 11 June 2009

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

scientific article

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

scientific article published on 26 October 2015

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

scientific article published on 01 May 2018

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

scientific article published on 15 December 2011

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

scientific article

Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti

scientific article published on 21 October 2020

Molecular basis of maternal age‐related increase in oocyte aneuploidy ⬇️

scientific article published on March 1, 2012

Molecular cloning of a translocation breakpoint hotspot in 22q11.

scientific article published on 31 January 2007

Mutations of the SYCP3 gene in women with recurrent pregnancy loss

scientific article published on 24 December 2008

Myogenin promoter-associated lncRNA Myoparr is essential for myogenic differentiation

scientific article published on 08 January 2019

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome

scientific article published on 27 April 2017

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

scientific article published on 22 February 2019

PCSK5 mutation in a patient with the VACTERL association.

scientific article published on 9 June 2015

PM374. Deficiency of neurogranin, a susceptible gene for schizophrenia, causes behavioral phenotypes related to schizophrenia and immaturity of the dentate gyrus in mice.

scientific article published on 27 May 2016

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

scientific article

Palindrome-mediated chromosomal translocations in humans

scientific article

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

scientific article published on October 2005

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

scientific article

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.

scientific article

Preimplantation genetic diagnosis/screening by comprehensive molecular testing

scientific article published on 14 July 2015

Prevalence of Emanuel syndrome: theoretical frequency and surveillance result

scientific article published on 01 August 2014

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

scientific article published on 17 April 2009

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

scientific article

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

scientific journal article

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

scientific article published on 14 June 2018

Signature of backward replication slippage at the copy number variation junction

scientific article published on 20 March 2014

The Bartonella autotransporter BafA activates the host VEGF pathway to drive angiogenesis

scientific article published on 16 July 2020

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

scientific article published on 02 June 2020

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

scientific article

Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2

scientific article published on 26 March 2022

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

scientific article published on 9 January 2008

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

scientific article

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

scientific article published on 18 July 2018

List of works by Hidehito Inagaki

A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.

A PDE3A mutation in familial hypertension and brachydactyly syndrome

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

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

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.

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

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

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

Age-related decrease of meiotic cohesins in human oocytes

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

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

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

Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.

Chromosomal translocations mediated by palindromic DNA.

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

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

Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

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

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

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

Deficiency of <i>Vgll2</i> Gene Alters the Gene Expression Profiling of Skeletal Muscle Subjected to Mechanical Overload

Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

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

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

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

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

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

Failure of homologous synapsis and sex-specific reproduction problems ⬇️

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis

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

Genetic variation affects de novo translocation frequency.

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

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

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes

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

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

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

Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

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

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

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

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

Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti

Molecular basis of maternal age‐related increase in oocyte aneuploidy ⬇️

Molecular cloning of a translocation breakpoint hotspot in 22q11.

Mutations of the SYCP3 gene in women with recurrent pregnancy loss

Myogenin promoter-associated lncRNA Myoparr is essential for myogenic differentiation

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome

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

PCSK5 mutation in a patient with the VACTERL association.

PM374. Deficiency of neurogranin, a susceptible gene for schizophrenia, causes behavioral phenotypes related to schizophrenia and immaturity of the dentate gyrus in mice.

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

Palindrome-mediated chromosomal translocations in humans

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

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

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.

Preimplantation genetic diagnosis/screening by comprehensive molecular testing

Prevalence of Emanuel syndrome: theoretical frequency and surveillance result

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

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

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

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

Signature of backward replication slippage at the copy number variation junction

The Bartonella autotransporter BafA activates the host VEGF pathway to drive angiogenesis

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

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

Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2

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

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

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