Lista de obras - Hidenobu Soejima - Dominio Público Uruguay

A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome

scientific article published on 01 January 2008

A SacII polymorphism in the human ASCL2 (HASH2) gene region.

artículo científico publicado en 1998

A comparison of GC content and the proportion of Alu/KpnI-repetitive sequences in a single dark- and light-band region from a human chromosome.

artículo científico publicado en 1994

A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 11q: Comparison with chromosome 21q

scientific article published on 01 August 2006

A new organotypic culture of adipose tissue fragments maintains viable mature adipocytes for a long term, together with development of immature adipocytes and mesenchymal stem cell-like cells.

artículo científico publicado en 2008

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.

artículo científico publicado en 2013

A novel imprinted gene, KCNQ1DN, within the WT2 critical region of human chromosome 11p15.5 and its reduced expression in Wilms' tumors.

artículo científico publicado en 2000

Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome

artículo científico publicado en 2012

Acute megakaryocytic leukemia (AMKL,FAB;M7) with Beckwith-Wiedemann syndrome

scientific article published on 01 October 2010

An ancestral haplotype of the human PERIOD2 gene associates with reduced sensitivity to light-induced melatonin suppression

artículo científico publicado en 2017

Analysis of IGF2 gene imprinting in breast and colorectal cancer by allele specific-PCR

artículo científico publicado en 1999

Ash1l methylates Lys36 of histone H3 independently of transcriptional elongation to counteract polycomb silencing

artículo científico publicado en 2013

Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization

artículo científico publicado en 1995

Association of 11q loss, trisomy 12, and possible 16q loss with loss of imprinting of insulin-like growth factor-II in Wilms tumor

scientific article published on 01 June 2006

Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome

scientific article published on 08 November 2014

C11orf21, a novel gene within the Beckwith-Wiedemann syndrome region in human chromosome 11p15.5.

artículo científico publicado en 2000

CTCFdeletion syndrome: clinical features and epigenetic delineation

artículo científico publicado en 2017

Characterization and imprinting status of OBPH1/Obph1 gene: implications for an extended imprinting domain in human and mouse.

artículo científico publicado en 2002

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

artículo científico publicado en 2012

Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma.

artículo científico publicado en 2013

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations

artículo científico publicado en 2014

Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer

scientific article published on 04 December 2018

CpG methylation of MGMT and hMLH1 promoter in hepatocellular carcinoma associated with hepatitis viral infection.

artículo científico publicado en 2003

Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan.

artículo científico publicado en 2017

Duplication of paternal IGF2 or loss of maternal IGF2 imprinting occurs in half of Wilms tumors with various structural WT1 abnormalities

scientific article published on 01 August 2008

Duplication of the paternal IGF2 allele in trisomy 11 and elevated expression levels of IGF2 mRNA in congenital mesoblastic nephroma of the cellular or mixed type

artículo científico publicado en 2007

Epigenetic inactivation of class II transactivator (CIITA) is associated with the absence of interferon-gamma-induced HLA-DR expression in colorectal and gastric cancer cells.

artículo científico publicado en 2004

Epigenetic silencing of the MGMT gene in cancer.

artículo científico publicado en 2005

Expression profile of LIT1/KCNQ1OT1 and epigenetic status at the KvDMR1 in colorectal cancers.

artículo científico publicado en 2006

Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.

artículo científico publicado en 2014

Fifty novel sequence-tagged sites (STSs) on human chromosome 11q13.4-->q25 identified from microclones generated by microdissection.

artículo científico publicado en 1995

Frequencies in the Japanese population of HFE gene mutations

artículo científico publicado en 1999

Gene silencing in DNA damage repair.

artículo científico publicado en 2004

Genetic and epigenetic alterations on the short arm of chromosome 11 are involved in a majority of sporadic Wilms' tumours

artículo científico publicado en 2006

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

artículo científico publicado en 2014

Genomic organization and chromosomal assignment of the human beta1, 4-N-acetylgalactosaminyltransferase gene. Identification of multiple transcription units

scientific journal article

Heme requirement for production of active endothelial nitric oxide synthase in baculovirus-infected insect cells.

artículo científico publicado en 1995

Hepatoblastoma in an extremely low birth-weight infant with Beckwith-Wiedemann syndrome

artículo científico publicado en 2017

Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.

scientific article published on 13 March 2013

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome

scientific article published on 23 May 2020

Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.

artículo científico publicado en 2016

Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer.

artículo científico publicado en 2006

In situ detection of insulin-like growth factor II (IGF2) and H19 gene expression in hepatocellular carcinoma.

artículo científico publicado en 1998

Insulin-like growth factor 2 gene imprinting in clear cell sarcoma of the kidney.

artículo científico publicado en 1997

Isolation of novel heart-specific genes using the BodyMap database

artículo científico publicado en 2001

Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

artículo científico publicado en 2007

Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.

artículo científico publicado en 2017

Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome.

artículo científico publicado en 2003

Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome

artículo científico publicado en 1993

MeCP2 knockdown reveals DNA methylation-independent gene repression of target genes in living cells and a bias in the cellular location of target gene products.

artículo científico

MeCP2-dependent repression of an imprinted miR-184 released by depolarization

scientific journal article

Methylation dynamics of IG-DMR and Gtl2-DMR during murine embryonic and placental development.

artículo científico publicado en 2011

Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes

artículo científico publicado en 2011

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

scientific journal article

Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air

scientific article published on 21 July 2005

Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.

artículo científico publicado en 2015

Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith–Wiedemann syndrome

artículo científico publicado en 2021

Premature termination of reprogramming in vivo leads to cancer development through altered epigenetic regulation

artículo científico publicado en 2014

Primary palmar hyperhidrosis locus maps to 14q11.2-q13.

artículo científico publicado en 2006

Regional DNA methylation differences between humans and chimpanzees are associated with genetic changes, transcriptional divergence and disease genes ⬇️

artículo científico publicado el 6 de junio de 2013

Retinoic acid receptor beta2 is epigenetically silenced either by DNA methylation or repressive histone modifications at the promoter in cervical cancer cells.

artículo científico publicado en 2006

Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb10.

artículo científico publicado en 2006

The HUS1B promoter is hypomethylated in the placentas of low-birth-weight infants.

artículo científico publicado en 2016

The allele frequency of ALDH2Glu504Lys and ADH1BArg47His for the Ryukyu islanders and their history of expansion among East Asians.

artículo científico publicado en 2016

The essential role of histone H3 Lys9 di-methylation and MeCP2 binding in MGMT silencing with poor DNA methylation of the promoter CpG island.

artículo científico publicado en 2005

The human ASCL2 gene escaping genomic imprinting and its expression pattern

artículo científico publicado en 2002

The mouse Murr1 gene is imprinted in the adult brain, presumably due to transcriptional interference by the antisense-oriented U2af1-rs1 gene.

artículo científico publicado en 2004

The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting.

artículo científico

The possibility that multiple mucocutaneous (palisaded encapsulated and nonencapsulated) neuromas may be a distinct entity

artículo científico publicado en 2013

Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1

artículo científico publicado en 1997

Tissue-specific demethylation in CpG-poor promoters during cellular differentiation

artículo científico publicado en 2011

cDNA cloning and chromosomal mapping of human N-acetylglucosaminyltransferase V+

artículo científico publicado en 1994

Lista de obras de Hidenobu Soejima

A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome

A SacII polymorphism in the human ASCL2 (HASH2) gene region.

A comparison of GC content and the proportion of Alu/KpnI-repetitive sequences in a single dark- and light-band region from a human chromosome.

A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 11q: Comparison with chromosome 21q

A new organotypic culture of adipose tissue fragments maintains viable mature adipocytes for a long term, together with development of immature adipocytes and mesenchymal stem cell-like cells.

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.

A novel imprinted gene, KCNQ1DN, within the WT2 critical region of human chromosome 11p15.5 and its reduced expression in Wilms' tumors.

Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome

Acute megakaryocytic leukemia (AMKL,FAB;M7) with Beckwith-Wiedemann syndrome

An ancestral haplotype of the human PERIOD2 gene associates with reduced sensitivity to light-induced melatonin suppression

Analysis of IGF2 gene imprinting in breast and colorectal cancer by allele specific-PCR

Ash1l methylates Lys36 of histone H3 independently of transcriptional elongation to counteract polycomb silencing

Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization

Association of 11q loss, trisomy 12, and possible 16q loss with loss of imprinting of insulin-like growth factor-II in Wilms tumor

Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome

C11orf21, a novel gene within the Beckwith-Wiedemann syndrome region in human chromosome 11p15.5.

CTCFdeletion syndrome: clinical features and epigenetic delineation

Characterization and imprinting status of OBPH1/Obph1 gene: implications for an extended imprinting domain in human and mouse.

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma.

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations

Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer

CpG methylation of MGMT and hMLH1 promoter in hepatocellular carcinoma associated with hepatitis viral infection.

Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan.

Duplication of paternal IGF2 or loss of maternal IGF2 imprinting occurs in half of Wilms tumors with various structural WT1 abnormalities

Duplication of the paternal IGF2 allele in trisomy 11 and elevated expression levels of IGF2 mRNA in congenital mesoblastic nephroma of the cellular or mixed type

Epigenetic inactivation of class II transactivator (CIITA) is associated with the absence of interferon-gamma-induced HLA-DR expression in colorectal and gastric cancer cells.

Epigenetic silencing of the MGMT gene in cancer.

Expression profile of LIT1/KCNQ1OT1 and epigenetic status at the KvDMR1 in colorectal cancers.

Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.

Fifty novel sequence-tagged sites (STSs) on human chromosome 11q13.4-->q25 identified from microclones generated by microdissection.

Frequencies in the Japanese population of HFE gene mutations

Gene silencing in DNA damage repair.

Genetic and epigenetic alterations on the short arm of chromosome 11 are involved in a majority of sporadic Wilms' tumours

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

Genomic organization and chromosomal assignment of the human beta1, 4-N-acetylgalactosaminyltransferase gene. Identification of multiple transcription units

Heme requirement for production of active endothelial nitric oxide synthase in baculovirus-infected insect cells.

Hepatoblastoma in an extremely low birth-weight infant with Beckwith-Wiedemann syndrome

Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome

Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.

Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer.

In situ detection of insulin-like growth factor II (IGF2) and H19 gene expression in hepatocellular carcinoma.

Insulin-like growth factor 2 gene imprinting in clear cell sarcoma of the kidney.

Isolation of novel heart-specific genes using the BodyMap database

Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.

Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome.

Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome

MeCP2 knockdown reveals DNA methylation-independent gene repression of target genes in living cells and a bias in the cellular location of target gene products.

MeCP2-dependent repression of an imprinted miR-184 released by depolarization

Methylation dynamics of IG-DMR and Gtl2-DMR during murine embryonic and placental development.

Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air

Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.

Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith–Wiedemann syndrome

Premature termination of reprogramming in vivo leads to cancer development through altered epigenetic regulation

Primary palmar hyperhidrosis locus maps to 14q11.2-q13.

Regional DNA methylation differences between humans and chimpanzees are associated with genetic changes, transcriptional divergence and disease genes ⬇️

Retinoic acid receptor beta2 is epigenetically silenced either by DNA methylation or repressive histone modifications at the promoter in cervical cancer cells.

Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb10.

The HUS1B promoter is hypomethylated in the placentas of low-birth-weight infants.

The allele frequency of ALDH2*Glu504Lys and ADH1B*Arg47His for the Ryukyu islanders and their history of expansion among East Asians.

The essential role of histone H3 Lys9 di-methylation and MeCP2 binding in MGMT silencing with poor DNA methylation of the promoter CpG island.

The human ASCL2 gene escaping genomic imprinting and its expression pattern

The mouse Murr1 gene is imprinted in the adult brain, presumably due to transcriptional interference by the antisense-oriented U2af1-rs1 gene.

The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting.

The possibility that multiple mucocutaneous (palisaded encapsulated and nonencapsulated) neuromas may be a distinct entity

Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1

Tissue-specific demethylation in CpG-poor promoters during cellular differentiation

cDNA cloning and chromosomal mapping of human N-acetylglucosaminyltransferase V+

The allele frequency of ALDH2Glu504Lys and ADH1BArg47His for the Ryukyu islanders and their history of expansion among East Asians.