Nature Search

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Hisao Yaoita
Eiichiro Kawai
Atsuo Kikuchi
ResearchOpen Access13 Feb 2024
Journal of Human Genetics

Volume: 69, P: 177-183
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities

Noncoding variants in a TTTG microsatellite on 15q26.1 are identified in Japanese patients with childhood and adult-onset thyroid abnormalities. Functional analyses suggest that these variants affect the role of the microsatellite as a potential regulator of thyroid cell growth.

Satoshi Narumi
Keisuke Nagasaki
Tomonobu Hasegawa
ResearchOpen Access07 May 2024
Nature Genetics

Volume: 56, P: 869-876
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Nephrotic syndrome is the second most common chronic kidney disease but there are no targeted treatment strategies available. Here the authors identify mutations of six genes codifying for proteins involved in cytoskeleton remodelling and modulation of small GTPases in 17 families with nephrotic syndrome.

Shazia Ashraf
Hiroki Kudo
Friedhelm Hildebrandt
ResearchOpen Access17 May 2018
Nature Communications

Volume: 9, P: 1-14
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

Human reference genomes are typically constructed from few individuals, and are biased towards European and African genomes. Here, the authors assemble three Japanese genomes to create a population-specific reference genome. They then demonstrate improved variant calling from exome sequencing with this reference genome.

Jun Takayama
Shu Tadaka
Gen Tamiya
ResearchOpen Access11 Jan 2021
Nature Communications

Volume: 12, P: 1-14
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Hisao Yaoita
Eiichiro Kawai
Atsuo Kikuchi
Amendments and CorrectionsOpen Access29 Mar 2024
Journal of Human Genetics

Volume: 69, P: 185
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor

Yu Aihara
Matsuyuki Shirota
Shigeo Kure
Research27 Sept 2022
Journal of Human Genetics

Volume: 68, P: 51-54
Superconcentrated electrolytes for a high-voltage lithium-ion battery

Electrode degradation due to metal-ion dissolution in conventional electrolyte hampers the performance of 5 V-class lithium ion batteries. Here, the authors employ a high concentration electrolyte to inhibit metal-ion dissolution and realize a stable high voltage LiNi_0.5Mn_1.5O₄/graphite battery.

Jianhui Wang
Yuki Yamada
Atsuo Yamada
ResearchOpen Access29 Jun 2016
Nature Communications

Volume: 7, P: 1-9
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia

Yoichi Wada
Atsuo Kikuchi
Shigeo Kure
Amendments and Corrections05 Jun 2020
Genetics in Medicine

Volume: 22, P: 1281
CIS3 and JAB have different regulatory roles in interleukin-6 mediated differentiation and STAT3 activation in M1 leukemia cells

Ritsu Suzuki
Hiroshi Sakamoto
Akihiko Yoshimura
Research29 Oct 1998
Oncogene

Volume: 17, P: 2271-2278
Biallelic GALM pathogenic variants cause a novel type of galactosemia

Yoichi Wada
Atsuo Kikuchi
Shigeo Kure
Research19 Oct 2018
Genetics in Medicine

Volume: 21, P: 1286-1294
Dynamic neural network modulation associated with rumination in major depressive disorder: a prospective observational comparative analysis of cognitive behavioral therapy and pharmacotherapy

Nariko Katayama
Kazushi Shinagawa
Hiroyuki Uchida
ResearchOpen Access06 Aug 2025
Translational Psychiatry

Volume: 15, P: 1-9
Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis

Yusuke Goto
Tetsuya Niihori
Yoko Aoki
ResearchOpen Access30 Apr 2025
Scientific Reports

Volume: 15, P: 1-15
Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

Sato Suzuki-Muromoto
Takuya Miyabayashi
Kazuhiro Haginoya
Research06 Mar 2019
Journal of Human Genetics

Volume: 64, P: 499-504
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

Fumiaki Kamada
Yoko Aoki
Shigeo Kure
Research04 Nov 2010
Journal of Human Genetics

Volume: 56, P: 34-40
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

Takehiko Inui
Mai Anzai
Kazuhiro Haginoya
Research02 Feb 2017
Journal of Human Genetics

Volume: 62, P: 653-655
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan

Kinuko Ohneda
Yoichi Suzuki
Masayuki Yamamoto
ResearchOpen Access17 Jan 2025
Journal of Human Genetics

Volume: 70, P: 147-157
New reference values for ultrasound fetal biometry in Japanese population and comparison with other studies

Sumito Nagasaki
Keisuke Ishii
Hirokazu Yorioka
ResearchOpen Access20 Aug 2025
Scientific Reports

Volume: 15, P: 1-12
Galactose mutarotase deficiency as the galactosemia type IV

Yoichi Wada
Yu Aihara
Shigeo Kure
ReviewsOpen Access15 Dec 2025
Journal of Human Genetics

P: 1-6
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility

Maako Kawamura
Hidekazu Shirota
Chikashi Ishioka
Research20 Feb 2023
Journal of Human Genetics

Volume: 68, P: 399-408
Development and validation of a novel qualitative test for plasma fibrinogen utilizing clot waveform analysis

Atsuo Suzuki
Nobuaki Suzuki
Tadashi Matsushita
ResearchOpen Access21 Jan 2022
Scientific Reports

Volume: 12, P: 1-9
Influence of hospital capabilities and prehospital time on outcomes of thrombectomy for stroke in Japan from 2013 to 2016

Ai Kurogi
Daisuke Onozuka
Masayuki Yokota
ResearchOpen Access28 Feb 2022
Scientific Reports

Volume: 12, P: 1-17

Search

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor

Superconcentrated electrolytes for a high-voltage lithium-ion battery

Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia

CIS3 and JAB have different regulatory roles in interleukin-6 mediated differentiation and STAT3 activation in M1 leukemia cells

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Dynamic neural network modulation associated with rumination in major depressive disorder: a prospective observational comparative analysis of cognitive behavioral therapy and pharmacotherapy

Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan

New reference values for ultrasound fetal biometry in Japanese population and comparison with other studies

Galactose mutarotase deficiency as the galactosemia type IV

Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility

Development and validation of a novel qualitative test for plasma fibrinogen utilizing clot waveform analysis

Influence of hospital capabilities and prehospital time on outcomes of thrombectomy for stroke in Japan from 2013 to 2016

Search

Quick links

Search

Filter By:

Search

Quick links