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Human Genome Variation (19)
Journal of Human Genetics (15)
Scientific Reports (9)
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Showing 1–50 of 53 results

Advanced filters: Author: Issei Imoto Clear advanced filters

Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome

Nobue Takaiso
Issei Imoto
Akiyo Yoshimura
ResearchOpen Access17 Sept 2024
Human Genome Variation

Volume: 11, P: 1-3
GPC5 is a possible target for the 13q31-q32 amplification detected in lymphoma cell lines

Wei Yu
Jun Inoue
Johji Inazawa
Research29 Apr 2003
Journal of Human Genetics

Volume: 48, P: 331-335
Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer

Previous genome-wide association studies have identified risk loci for pancreatic cancer but were centered on individuals of European ancestry. Here the authors identify GP2 gene variants associated with pancreatic cancer susceptibility in populations of East Asian ancestry.

Yingsong Lin
Masahiro Nakatochi
Keitaro Matsuo
ResearchOpen Access24 Jun 2020
Nature Communications

Volume: 11, P: 1-12
BARD1 deletion in a patient with suspected hereditary colorectal cancer

Nobue Takaiso
Issei Imoto
Yasuhiro Shimizu
ResearchOpen Access15 Mar 2024
Human Genome Variation

Volume: 11, P: 1-4
GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region

Here, the authors identify six risk SNPs for systemic sclerosis by performing GWAS on Japanese patients and meta-analyzing Japanese and European GWAS datasets. Downstream analyses indicate that B cells contribute to pathogenesis.

Yuki Ishikawa
Nao Tanaka
Chikashi Terao
ResearchOpen Access31 Jan 2024
Nature Communications

Volume: 15, P: 1-16
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

Mio Tsuchiya
Takahiro Yamada
Shinji Kosugi
Research13 Jul 2020
Journal of Human Genetics

Volume: 65, P: 1045-1053
Deep intronic GPR143 mutation in a Japanese family with ocular albinism

Takuya Naruto
Nobuhiko Okamoto
Issei Imoto
ResearchOpen Access10 Jun 2015
Scientific Reports

Volume: 5, P: 1-9
Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development

Silvia Naomi Mitsui
Akihiro Yasue
Eiji Tanaka
ResearchOpen Access05 Dec 2016
Scientific Reports

Volume: 6, P: 1-8
A-kinase anchoring protein BIG3 coordinates oestrogen signalling in breast cancer cells

BIG3 is highly expressed in breast cancers and its interaction with PHB2 results in constitutive activation of E2/ERa signalling. Here the authors unveil the mechanistic details of this regulation showing that BIG3 binds PKA and regulates PP1Ca activity in an oestrogen-dependent manner.

Tetsuro Yoshimaru
Masaya Ono
Toyomasa Katagiri
ResearchOpen Access30 May 2017
Nature Communications

Volume: 8, P: 1-12
Involvement of overexpressed wild-type BRAF in the growth of malignant melanoma cell lines

Hideaki Tanami
Issei Imoto
Johji Inazawa
Research04 Oct 2004
Oncogene

Volume: 23, P: 8796-8804
ADAM23, a possible tumor suppressor gene, is frequently silenced in gastric cancers by homozygous deletion or aberrant promoter hypermethylation

Hisashi Takada
Issei Imoto
Johji Inazawa
Research15 Aug 2005
Oncogene

Volume: 24, P: 8051-8060
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

Genome-wide analysis in 212,453 Japanese individuals identifies loci associated with 42 diseases. Comparative analysis with European populations identifies East Asian–specific associations.

Kazuyoshi Ishigaki
Masato Akiyama
Yoichiro Kamatani
Research08 Jun 2020
Nature Genetics

Volume: 52, P: 669-679
Acknowledgement to the Reviewers

Issei Imoto
EditorialOpen Access20 Dec 2022
Human Genome Variation

Volume: 9, P: 1
De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity

Akira Nishi
Shusuke Numata
Tetsuro Ohmori
ResearchOpen Access06 Jun 2017
Scientific Reports

Volume: 7, P: 1-8
Retraction Note: A significant causal association between C-reactive protein levels and schizophrenia

Masatoshi Inoshita
Shusuke Numata
Tetsuro Ohmori
Amendments and CorrectionsOpen Access21 Feb 2018
Scientific Reports

Volume: 8, P: 1
A message from the new Editor-in-Chief of the Human Genome Variation

Issei Imoto
Editorial19 Mar 2020
Human Genome Variation

Volume: 7, P: 1
Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome

Keita Osumi
Kenichi Suga
Shoji Kagami
ResearchOpen Access16 Jul 2020
Human Genome Variation

Volume: 7, P: 1-5
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

Satomi Okano
Yoshio Makita
Issei Imoto
ResearchOpen Access28 Jan 2019
Human Genome Variation

Volume: 6, P: 1-4
Primary microcephaly caused by novel compound heterozygous mutations in ASPM

Nobuhiko Okamoto
Tomohiro Kohmoto
Issei Imoto
ResearchOpen Access05 Apr 2018
Human Genome Variation

Volume: 5, P: 1-3
A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

Miki Watanabe
Ryuji Nakagawa
Issei Imoto
ResearchOpen Access15 Sept 2016
Human Genome Variation

Volume: 3, P: 1-3
A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome

Tomohiro Kohmoto
Miki Shono
Issei Imoto
ResearchOpen Access07 Apr 2016
Human Genome Variation

Volume: 3, P: 1-3
Detection of 1p36 deletion by clinical exome-first diagnostic approach

Miki Watanabe
Yasunobu Hayabuchi
Issei Imoto
ResearchOpen Access12 May 2016
Human Genome Variation

Volume: 3, P: 1-4
A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men

Youichi Sato
Atsushi Tajima
Teruaki Iwamoto
Research30 Jun 2016
Journal of Human Genetics

Volume: 61, P: 911-915
A FRMD7 variant in a Japanese family causes congenital nystagmus

Tomohiro Kohmoto
Nana Okamoto
Issei Imoto
ResearchOpen Access12 Feb 2015
Human Genome Variation

Volume: 2, P: 1-4
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

Nana Okamoto
Shin Hayashi
Johji Inazawa
Research19 Jan 2012
Journal of Human Genetics

Volume: 57, P: 191-196
Molecular cloning of t(2;7)(p24.3;p14.2), a novel chromosomal translocation in myelodysplastic syndrome-derived acute myeloid leukemia

Kazuhiro Fujita
Masashi Sanada
Issei Imoto
Research01 May 2009
Journal of Human Genetics

Volume: 54, P: 355-359
Actinin-4 gene amplification in ovarian cancer: a candidate oncogene associated with poor patient prognosis and tumor chemoresistance

Sohei Yamamoto
Hitoshi Tsuda
Osamu Matsubara
Research16 Jan 2009
Modern Pathology

Volume: 22, P: 499-507
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation

Shozo Honda
Shigeko Satomura
Johji Inazawa
Research01 Dec 2011
Journal of Human Genetics

Volume: 57, P: 73-77
Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis

Nana Okamoto
Tomohiro Kohmoto
Issei Imoto
ResearchOpen Access17 Aug 2017
Human Genome Variation

Volume: 4, P: 1-4
A novel PTCH1 mutation in a patient with Gorlin syndrome

Nana Okamoto
Takuya Naruto
Issei Imoto
ResearchOpen Access13 Nov 2014
Human Genome Variation

Volume: 1, P: 1-3
A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome

Tomohiro Kohmoto
Takuya Naruto
Nobuhiko Okamoto
ResearchOpen Access12 Nov 2015
Human Genome Variation

Volume: 2, P: 1-4
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome

Tomohiro Kohmoto
Atsumi Tsuji
Issei Imoto
ResearchOpen Access07 Apr 2016
Human Genome Variation

Volume: 3, P: 1-3
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

Akiko Misawa
Hajime Hosoi
Johji Inazawa
Research01 Oct 2004
Journal of Human Genetics

Volume: 49, P: 586-589
Exome-first approach identified a novel gloss deletion associated with Lowe syndrome

Miki Watanabe
Ryuji Nakagawa
Issei Imoto
ResearchOpen Access10 Nov 2016
Human Genome Variation

Volume: 3, P: 1-4
Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation

Shozo Honda
Koji O Orii
Johji Inazawa
Research26 Mar 2010
Journal of Human Genetics

Volume: 55, P: 244-247
Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection

Nobuhiko Okamoto
Miki Watanabe
Issei Imoto
ResearchOpen Access19 Jan 2017
Human Genome Variation

Volume: 4, P: 1-3
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection

Asami Okada
Tomohiro Kohmoto
Issei Imoto
ResearchOpen Access03 Aug 2017
Human Genome Variation

Volume: 4, P: 1-3
Investigating the association between glycaemic traits and colorectal cancer in the Japanese population using Mendelian randomisation

Akiko Hanyuda
Atsushi Goto
Motoki Iwasaki
ResearchOpen Access29 Apr 2023
Scientific Reports

Volume: 13, P: 1-9
Association of 25-hydroxyvitamin D with risk of overall and colorectal cancer among Japanese using a Mendelian randomization approach

Ryoko Katagiri
Atsushi Goto
Motoki Iwasaki
ResearchOpen Access10 Feb 2023
Scientific Reports

Volume: 13, P: 1-9
JRAB/MICAL-L2 undergoes liquid–liquid phase separation to form tubular recycling endosomes

Sakane et al. demonstrate that JRAB/MICAL-L2, an effector protein of Rab8 and Rab13, induces endosomal tubulation in HeLa cells depending on its closed conformation caused by an activated Rab8A. JRAB/MICAL-L2 undergoes liquid-liquid phase separation when overexpressed, which precedes its interaction with Rab8A, eventually leading to tubulation.

Ayuko Sakane
Taka-aki Yano
Takuya Sasaki
ResearchOpen Access11 May 2021
Communications Biology

Volume: 4, P: 1-16
Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1

Issei Imoto
Masako Saito
Kiyoshi Masuda
ResearchOpen Access05 May 2021
Scientific Reports

Volume: 11, P: 1-12
Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan

Iku Taguchi
Takahiro Yamada
Shinji Kosugi
Research05 Jul 2019
Journal of Human Genetics

Volume: 64, P: 945-954
Genome-wide association study of semen volume, sperm concentration, testis size, and plasma inhibin B levels

Youichi Sato
Atsushi Tajima
Teruaki Iwamoto
Research27 Apr 2020
Journal of Human Genetics

Volume: 65, P: 683-691
Actin Cytoskeletal Reorganization Function of JRAB/MICAL-L2 Is Fine-tuned by Intramolecular Interaction between First LIM Zinc Finger and C-terminal Coiled-coil Domains

Kazuhisa Miyake
Ayuko Sakane
Takuya Sasaki
ResearchOpen Access05 Sept 2019
Scientific Reports

Volume: 9, P: 1-13
DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects

Wenming Gao
Takashi Higaki
Mariko Eguchi
ResearchOpen Access12 Feb 2015
Human Genome Variation

Volume: 2, P: 1-7
A significant causal association between C-reactive protein levels and schizophrenia

Masatoshi Inoshita
Shusuke Numata
Tetsuro Ohmori
ResearchOpen Access19 May 2016
Scientific Reports

Volume: 6, P: 1-8
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

Daniela Tiaki Uehara
Shin Hayashi
Johji Inazawa
Research07 Jan 2016
Journal of Human Genetics

Volume: 61, P: 335-343
Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis

Shin Hayashi
Shozo Honda
Johji Inazawa
Research04 Apr 2007
Journal of Human Genetics

Volume: 52, P: 397-405
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

Shin Hayashi
Issei Imoto
Johji Inazawa
Research28 Oct 2010
Journal of Human Genetics

Volume: 56, P: 110-124
Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis

Shozo Honda
Shin Hayashi
Johji Inazawa
Research08 Jul 2010
Journal of Human Genetics

Volume: 55, P: 590-599

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