Lista de obras - Issei Imoto - Dominio Público Uruguay

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

artículo científico publicado en 2007

A FRMD7 variant in a Japanese family causes congenital nystagmus

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

A novel PTCH1 mutation in a patient with Gorlin syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2000

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

artículo científico publicado en 2005

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

artículo científico publicado en 2023

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

DNA methylation signatures of peripheral leukocytes in schizophrenia.

artículo científico publicado en 2012

Deep intronic GPR143 mutation in a Japanese family with ocular albinism

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

Early manifestations of BPAN in a pediatric patient

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2001

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

artículo científico publicado en 2009

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2001

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 1999

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

artículo científico publicado en 2009

NF90 in posttranscriptional gene regulation and microRNA biogenesis

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado el 7 de julio de 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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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.

artículo científico publicado en 2000

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

artículo científico publicado en 2011

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

artículo científico publicado en 2001

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

artículo científico

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2004

Lista de obras de Issei Imoto

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

A FRMD7 variant in a Japanese family causes congenital nystagmus

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

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

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

A novel PTCH1 mutation in a patient with Gorlin syndrome

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

DNA methylation signatures of peripheral leukocytes in schizophrenia.

Deep intronic GPR143 mutation in a Japanese family with ocular albinism

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

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

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

Early manifestations of BPAN in a pediatric patient

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.

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

NF90 in posttranscriptional gene regulation and microRNA biogenesis

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

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

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

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

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

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

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

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

Promoter analysis and chromosomal mapping of human EBAG9 gene.

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

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

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

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

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

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.