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List of works by Issei Imoto

22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?

scientific article published on 01 December 2007

A FRMD7 variant in a Japanese family causes congenital nystagmus

scientific article published on 12 February 2015

A GWAS identifies gastric cancer susceptibility loci at 12q24.11-12 and 20q11.21

scientific article published on 31 October 2018

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 novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.

scientific article

A novel PTCH1 mutation in a patient with Gorlin syndrome

scientific article

A novel amplification at 17q21-23 in ovarian cancer cell lines detected by comparative genomic hybridization

scientific article published in May 2001

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation

scientific article published on 17 January 2018

ACTN4 gene amplification and actinin-4 protein overexpression drive tumour development and histological progression in a high-grade subset of ovarian clear-cell adenocarcinomas

scientific article published on 20 February 2012

Aberrant DNA methylation of blood in schizophrenia by adjusting for estimated cellular proportions

scientific article

Amplification and overexpression of TGIF2, a novel homeobox gene of the TALE superclass, in ovarian cancer cell lines

scientific article

Array-based comparative genomic hybridization analysis of high-grade neuroendocrine tumors of the lung

scientific article published in October 2005

Association Between Glycemic Traits and Primary Open-Angle Glaucoma: A Mendelian Randomization Study in the Japanese Population

scientific article published in 2023

Association of KLK5 overexpression with invasiveness of urinary bladder carcinoma cells.

scientific article published on 24 April 2007

Blood diagnostic biomarkers for major depressive disorder using multiplex DNA methylation profiles: discovery and validation

scientific article

Caffeine yields aneuploidy through asymmetrical cell division caused by misalignment of chromosomes.

scientific article published in August 2008

Case of non-mosaic trisomy 20 in amniotic fluid cultures without anomalies in the fetus: cytogenetic discrepancy between amniocytes and fetal blood

scientific article published on 28 August 2014

Claudin-6 is a single prognostic marker and functions as a tumor-promoting gene in a subgroup of intestinal type gastric cancer

scientific article published on 25 October 2019

Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.

scientific article published in April 2007

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.

scientific article

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.

scientific article published in December 2011

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.

scientific article published on 4 April 2007

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

scientific article published on 8 July 2010

Current status of collaborative relationships between dialysis facilities and dental facilities in Japan: results of a nationwide survey

scientific article published on 12 February 2015

DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects.

scientific article published on 12 February 2015

DNA methylation signatures of peripheral leukocytes in schizophrenia.

scientific article published on 9 September 2012

Deep intronic GPR143 mutation in a Japanese family with ocular albinism

scientific article

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.

scientific article published on 19 January 2012

Dermokine as a novel biomarker for early-stage colorectal cancer.

scientific article published on 21 July 2010

Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.

scientific article published in November 2005

Early manifestations of BPAN in a pediatric patient

scientific article published on 26 September 2014

Establishment of a cell line from a malignant rhabdoid tumor of the liver lacking the function of two tumor suppressor genes, hSNF5/INI1 and p16.

scientific article

Evaluation of an association between plasma total homocysteine and schizophrenia by a Mendelian randomization analysis.

scientific article published on 26 July 2015

Expression and clinical significance of connective tissue growth factor in advanced head and neck squamous cell cancer

scientific article published on 04 April 2014

Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.

scientific article published in June 2007

Frequent silencing of a putative tumor suppressor gene melatonin receptor 1 A (MTNR1A) in oral squamous-cell carcinoma.

scientific article

Gene amplification of ERBB2 and EGFR in adenocarcinoma in situ and intramucosal adenocarcinoma of Barrett's esophagus.

scientific article

Genetic profile of hepatocellular carcinoma revealed by array-based comparative genomic hybridization: identification of genetic indicators to predict patient outcome

scientific article published on 5 July 2005

Genetically distinct and clinically relevant classification of hepatocellular carcinoma: putative therapeutic targets.

scientific article

Genome-wide DNA methylation profiles in liver tissue at the precancerous stage and in hepatocellular carcinoma.

scientific article

Genome-wide DNA methylation profiles in renal tumors of various histological subtypes and non-tumorous renal tissues

scientific article published on 5 April 2011

Genome-wide array-based comparative genomic hybridization analysis of pancreatic adenocarcinoma: identification of genetic indicators that predict patient outcome

scientific article

Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer

scientific article published on 24 June 2020

Genomic copy-number alterations of MYC and FHIT genes are associated with survival in esophageal squamous-cell carcinoma

scientific article published on 21 June 2012

HER2 amplification detected in the circulating DNA of patients with gastric cancer: a retrospective pilot study

scientific article published on 17 October 2014

Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly

article

Hypomethylation of long interspersed nuclear element-1 (LINE-1) is associated with poor prognosis via activation of c-MET in hepatocellular carcinoma.

scientific article

ITCH is a putative target for a novel 20q11.22 amplification detected in anaplastic thyroid carcinoma cells by array-based comparative genomic hybridization.

scientific article

Identification and characterization of human PKNOX2, a novel homeobox-containing gene

scientific article published in September 2001

Identification of PAK4 as a putative target gene for amplification within 19q13.12-q13.2 in oral squamous-cell carcinoma.

scientific article

Identification of SMURF1 as a possible target for 7q21.3-22.1 amplification detected in a pancreatic cancer cell line by in-house array-based comparative genomic hybridization.

scientific article

Identification of target genes within an amplicon at 14q12-q13 in esophageal squamous cell carcinoma

scientific article published in October 2001

Impact of annual body mass index gain on obesity development in Japanese 6-year-old non-obese children

scientific article

Initiation of recombination suppression and PAR formation during the early stages of neo-sex chromosome differentiation in the Okinawa spiny rat, Tokudaia muenninki

scientific article

Involvement of cyclin D3 in liver metastasis of colorectal cancer, revealed by genome-wide copy-number analysis.

scientific article

Involvement of overexpressed wild-type BRAF in the growth of malignant melanoma cell lines.

scientific article

Junctional Rab13-binding protein (JRAB) regulates cell spreading via filamins

scientific article

Krüppel-like factor 12 plays a significant role in poorly differentiated gastric cancer progression.

scientific article published in October 2009

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

scientific article published on 08 June 2020

Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome

scientific article published on 19 December 2017

Meta-analysis of association studies between DISC1 missense variants and schizophrenia in the Japanese population

scientific article published on 15 August 2012

Metabolic abnormalities in the genetically obese and diabetic Otsuka Long-Evans Tokushima Fatty rat can be prevented and reversed by alpha-glucosidase inhibitor

scientific article published in March 1999

Molecular cloning of t(2;7)(p24.3;p14.2), a novel chromosomal translocation in myelodysplastic syndrome-derived acute myeloid leukemia

scientific article published in May 2009

NF90 in posttranscriptional gene regulation and microRNA biogenesis

scientific article

Non-incidental coamplification of Myc and ERBB2, and Myc and EGFR, in gastric adenocarcinomas

scientific article published on 13 April 2007

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.

scientific article published on 26 March 2010

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) ⬇️

scientific article published on July 7, 2011

Nuclear expression of cIAP-1, an apoptosis inhibiting protein, predicts lymph node metastasis and poor patient prognosis in head and neck squamous cell carcinomas

scientific article published on 01 June 2005

Overexpression of NF-κB inducing kinase underlies constitutive NF-κB activation in lung cancer cells.

scientific article published on 24 March 2010

Overexpression of PDZK1 within the 1q12-q22 amplicon is likely to be associated with drug-resistance phenotype in multiple myeloma

scientific article

Partial tandem duplication of GRIA3 in a male with mental retardation.

scientific article

Plasma total homocysteine is associated with DNA methylation in patients with schizophrenia.

scientific article published on 26 April 2013

Promoter analysis and chromosomal mapping of human EBAG9 gene.

scientific article published in July 2000

SASPase regulates stratum corneum hydration through profilaggrin-to-filaggrin processing

scientific article

SNO is a probable target for gene amplification at 3q26 in squamous-cell carcinomas of the esophagus

scientific article (publication date: 24 August 2001)

Sex differences of leukocytes DNA methylation adjusted for estimated cellular proportions.

scientific article published on 25 June 2015

Skp2 overexpression is a p27Kip1-independent predictor of poor prognosis in patients with biliary tract cancers

scientific article published on 01 December 2004

Specific molecular signatures of non-tumor liver tissue may predict a risk of hepatocarcinogenesis

scientific article published on 18 June 2014

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

scientific article published in August 2008

The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

scientific article published on 23 July 2002

The association of elastin gene variants with two angiographic subtypes of polypoidal choroidal vasculopathy.

scientific article

The cryptic Y-autosome translocation in the small Indian mongoose, Herpestes auropunctatus, revealed by molecular cytogenetic approaches

scientific article published on 7 January 2016

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

scientific article published on 23 January 2018

Translocation (1;22)(p36;q11.2) with concurrent del(22)(q11.2) resulted in homozygous deletion of SNF5/INI1 in a newly established cell line derived from extrarenal rhabdoid tumor.

scientific article

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