List of works by Hiroki Kurahashi

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 MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis

scientific article published on 22 October 2013

A PDE3A mutation in familial hypertension and brachydactyly syndrome.

scientific article published on 7 April 2016

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) ⬇️

scientific article published on July 30, 2010

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

scientific article published on 10 April 2020

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

scientific article published on 29 October 2018

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 constitutional jumping translocation involving the Y and acrocentric chromosomes.

scientific article published on 17 August 2018

A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

scientific article published on 05 December 2019

A functional variation in the hypocretin neuropeptide precursor gene may be associated with obstructive sleep apnea syndrome in Japan

scientific article

A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

scientific article published on 30 September 2015

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

scientific article

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

Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies

scientific article published on 10 March 2006

Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient.

scientific article published on 18 September 2013

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

An immunocompetent child with chromosomally integrated human herpesvirus 6B accidentally identified during the care of Mycoplasma pneumoniae infection

scientific article published on 11 December 2013

Analysis of gene-expression profiles by oligonucleotide microarray in children with influenza

scientific article published on June 2006

Analysis of nitric oxide metabolism as a placental or maternal factor underlying the etiology of pre-eclampsia

scientific article published on 17 September 2009

Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

scientific article published on 04 April 2020

Analysis of the origin of inherited chromosomally integrated human herpesvirus 6 in the Japanese population

scientific article

Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation

scientific article

Androgen receptor pathway in rats with autosomal dominant polycystic kidney disease

scientific article published on 11 May 2005

Annexin A5 haplotype M2 is not a risk factor for recurrent spontaneous abortion in Northern Europe: is there sufficient evidence?

scientific article

Authors' response to the letter of Nagirnaja et al., "Response to annexin A5 haplotype M2 is not a risk factor for recurrent miscarriages in Northern Europe, is there sufficient evidence?".

scientific article published in July 2016

Basement membrane fragility underlies embryonic lethality in fukutin-null mice

scientific article

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

scientific article

CD9 gene variations are not associated with female infertility in humans.

scientific article published on 2 December 2009

Candidate genes for male factor infertility--validation

scientific article published on 22 August 2006

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 and palindromic AT-rich repeats

scientific article

Chromosomal translocations mediated by palindromic DNA.

scientific article

Chromosomally integrated human herpesvirus 6 in the Japanese population

scientific article published on 10 July 2018

Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events.

scientific article published in January 2018

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

scientific article published on 11 October 2019

Clinical utility of target capture-based panel sequencing in hematological malignancies: a multicenter feasibility study

scientific article published on 03 July 2020

Coinfection With Human Herpesvirus (HHV)-6B in Immunocompetent, Healthy Individuals With Chromosomally Integrated HHV-6A

scientific article published on 23 January 2020

Comparative gene expression profiling of placentas from patients with severe pre-eclampsia and unexplained fetal growth restriction

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 methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication

scientific article published on 12 November 2018

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

scientific article

Decreased expression of apelin in placentas from severe pre-eclampsia patients

scientific article published on 11 July 2013

Definition and refinement of the 7q36.3 duplication region associated with schizophrenia.

scientific article published on January 2013

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

Emergence and Characterization of Unusual DS-1-Like G1P[8] Rotavirus Strains in Children with Diarrhea in Thailand

scientific article published on 5 November 2015

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

Expression analysis of a mouse orthologue of HSFY, a candidate for the azoospermic factor on the human Y chromosome

scientific article published on 01 February 2006

Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

scientific 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

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis

scientific article published on 13 September 2018

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

article

Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy

scientific article

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

Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype

scholarly article

Genomewide expression profiles of rat model renal isografts from brain dead donors

scientific article

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

scientific article

Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation

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

Global Gene Expression Profiling in PPAR-γ Agonist-Treated Kidneys in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease

scientific article

Global expression profiles in 1-hour biopsy specimens of human kidney transplantation from donors after cardiac death

scientific article published in January 2009

Global gene expression profiling in early-stage polycystic kidney disease in the Han:SPRD Cy rat identifies a role for RXR signaling ⬇️

scientific article published on 06 October 2010

Global gene expression profiling of renal scarring in a rat model of pyelonephritis.

scientific article published on 23 January 2008

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 novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

scientific article published on 12 February 2015

Impact of DPYD, DPYS and UPB1 gene variations on severe drug-related toxicity in cancer patients

scientific article published on 03 July 2020

Impact of indoleamine 2,3-dioxygenase on the antioxidant system in the placentas of severely pre-eclamptic patients

scientific article published on 01 July 2011

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

scientific article published on 11 June 2009

Increased levels of pregnancy-associated plasma protein-A2 in the serum of pre-eclamptic patients.

scientific article

Increased levels of soluble corin in pre-eclampsia and fetal growth restriction

scientific article published on 5 October 2016

Increased urinary neutrophil gelatinase associated lipocalin levels in a rat model of upper urinary tract infection

scientific journal article

Increased water intake decreases progression of polycystic kidney disease in the PCK rat

scientific article published on 28 June 2006

Inherited chromosomally integrated human herpesvirus 6 is a risk factor for spontaneous abortion

scientific article published on 28 September 2020

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

Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti

scientific article published on 05 January 2021

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

scientific article published on 01 May 2018

MTA3 regulates CGB5 and Snail genes in trophoblast

scientific article

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 and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency

scientific article published on 6 May 2014

Molecular basis of maternal age-related increase in oocyte aneuploidy

scientific article published on March 2012

Molecular cloning of a translocation breakpoint hotspot in 22q11.

scientific article published on 31 January 2007

Mouse model for allogeneic immune reaction against fetus recapitulates human pre-eclampsia

scientific article published in February 2008

Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.

scientific article published on 14 March 2018

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

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

scientific article published on 7 January 2016

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

scientific article

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

scientific article published on 27 April 2017

Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation

scientific article published on 18 March 2020

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

scientific article published on 22 February 2019

PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene

scientific article

PPAR-gamma agonist ameliorates kidney and liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease

scientific article (publication date: February 2011)

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

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

scientific article

Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case

scientific article

Placental Genetic Variants in the Upstream Region of the FLT1 Gene in Pre-eclampsia

scientific article published on 01 October 2020

Polycystic kidney disease in Han:SPRD Cy rats is associated with elevated expression and mislocalization of SamCystin

scientific article (publication date: November 2010)

Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss

scientific article published on 2 February 2011

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

scientific article

Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study

scientific article published on 14 September 2018

Potentially effective method for fetal gender determination by noninvasive prenatal testing for X-linked disease

scientific article published on 06 July 2018

Preimplantation genetic diagnosis/screening by comprehensive molecular testing

scientific article published on 14 July 2015

Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure

scientific article published on 01 December 2019

Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure

scientific article published on 01 January 2020

Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome.

scientific article published on 19 April 2018

Prenatal genetic testing for familial severe congenital protein C deficiency

scientific article published on 25 June 2015

Prevalence of Emanuel syndrome: theoretical frequency and surveillance result

scientific article published on 01 August 2014

Prostate Stem Cell Antigen Gene Polymorphism Is Associated with H. pylori-related Promoter DNA Methylation in Nonneoplastic Gastric Epithelium

scientific article published on 18 June 2019

Ras/MEK pathway is required for NGF-induced expression of tyrosine hydroxylase gene

scientific article published in March 2004

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

scientific article published on 17 April 2009

Remote intracranial recurrence of IDH mutant gliomas is associated with TP53 mutations and an 8q gain

scientific article published on 15 September 2017

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

Serum liver-type fatty acid-binding protein predicts recovery of graft function after kidney transplantation from donors after cardiac death

scientific article published on 23 May 2014

Serum neutrophil gelatinase associated lipocalin during the early postoperative period predicts the recovery of graft function after kidney transplantation from donors after cardiac death

scientific article

Serum neutrophil gelatinase-associated lipocalin as a predictor of organ recovery from delayed graft function after kidney transplantation from donors after cardiac death

scientific article published in January 2008

Serum tissue inhibitor of metalloproteinases 1 (TIMP-1) predicts organ recovery from delayed graft function after kidney transplantation from donors after cardiac death

scientific article published on 3 June 2010

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

Single gene disorder

scientific article published on 01 December 2005

Successful living donor liver transplantation for classical maple syrup urine disease

scientific article published on 20 June 2016

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

scientific article

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

scientific article published on 16 July 2020

The DNA Damage Checkpoint Eliminates Mouse Oocytes with Chromosome Synapsis Failure.

scientific article published on 16 August 2017

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

scientific article

The etiological role of allogeneic fetal rejection in pre-eclampsia.

scientific article published in July 2007

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

Twin pregnancy with chromosomal abnormalities mimicking a gestational trophoblastic disorder and coexistent foetus on ultrasound

scientific article published on 09 March 2018

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

Unexpected Mutations by CRISPR-Cas9 CTG Repeat Excision in Myotonic Dystrophy and Use of CRISPR Interference as an Alternative Approach

scientific article published on 22 May 2020

Urinary neutrophil-gelatinase associated lipocalin is a potential noninvasive marker for renal scarring in patients with vesicoureteral reflux

scientific article published on 19 March 2010

Whole Genomic Analysis of an Unusual Human G6P[14] Rotavirus Strain Isolated from a Child with Diarrhea in Thailand: Evidence for Bovine-To-Human Interspecies Transmission and Reassortment Events

scientific article published on 30 September 2015

[Positive and negative aspects of genetic testing for familial cancer]

Paulina is supported by:

About Paulina

Help