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Showing 251–300 of 1022 results

Advanced filters: Author: M. MATSUDA Clear advanced filters

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Sclerosing bone disorder (SBD) includes a broad spectrum of monogenic diseases characterised by increased bone density. Here, the authors describe a previously unknown SBD in four families caused by mutations in TMEM53 and demonstrate the role this protein plays in BMP signalling during bone formation.

Long Guo
Aritoshi Iida
Shiro Ikegawa
ResearchOpen Access06 Apr 2021
Nature Communications

Volume: 12, P: 1-13
Trace benzene capture by decoration of structural defects in metal–organic framework materials

Benzene is a genotoxic carcinogen with no safe level of exposure. Here, by creating and decorating a structural defect in a metal–organic framework to form MIL-125-Zn, a benzene uptake of 7.63 mmol g^–1 at 1.2 mbar is observed due to binding to Zn(II) sites.

Yu Han
Wenyuan Huang
Sihai Yang
ResearchOpen Access29 Oct 2024
Nature Materials

Volume: 23, P: 1531-1538
Expanded quantum vortex liquid regimes in the electron nematic superconductors FeSe_1−xS_x and FeSe_1−xTe_x

In a quantum vortex liquid, the superconducting vortex lattice is melted by quantum fluctuations instead of thermal fluctuations. Here, the authors present high-field magnetotransport measurements of FeSe_1−xS_x and FeSe_1−xTe_x, which provide evidence for a broad quantum vortex liquid regime.

M. Čulo
S. Licciardello
N. E. Hussey
ResearchOpen Access12 Jul 2023
Nature Communications

Volume: 14, P: 1-8
Magnetization-polarization cross-control near room temperature in hexaferrite single crystals

Mutual control of the electric polarization and magnetization promises for low power consumption spintronic devices but remains challenging. Here the authors show reversal of non-volatile magnetization by electric field as well as the polarization switching by magnetic field in a single-component material, close to room temperature.

V. Kocsis
T. Nakajima
Y. Taguchi
ResearchOpen Access18 Mar 2019
Nature Communications

Volume: 10, P: 1-7
Refractory anemia with severe dysplasia: clinical significance of morphological features in refractory anemia

A Matsuda
I Jinnai
K Hirashima
Research08 May 1998
Leukemia

Volume: 12, P: 482-485
Effect of pravastatin on survival in patients with advanced hepatocellular carcinoma. A randomized controlled trial

S Kawata
E Yamasaki
Y Matsuzawa
ResearchOpen Access03 Apr 2001
British Journal of Cancer

Volume: 84, P: 886-891
Association of serum phosphate levels with glucose tolerance, insulin sensitivity and insulin secretion in non-diabetic subjects

M Haap
E Heller
A Fritsche
Research04 Jan 2006
European Journal of Clinical Nutrition

Volume: 60, P: 734-739
Rapamycin treatment for Alzheimer’s disease and related dementias: a pilot phase 1 clinical trial

Gonzales et al. conducted an open-label phase 1 clinical trial of rapamycin for mild cognitive impairment and dementia due to Alzheimer’s disease. Rapamycin is not detected in cerebrospinal fluid before or after treatment, but there are changes in multiple neurodegenerative diseases and inflammatory biomarkers from baseline to post-treatment.

Mitzi M. Gonzales
Valentina R. Garbarino
Dean Kellogg Jr
ResearchOpen Access20 May 2025
Communications Medicine

Volume: 5, P: 1-12
The Effect of Hemoglobin F-Chesapeake (α₂^{92 Arg. → Leu}γ₂) on Fetal Oxygen Affinity and Erythropoiesis

Clyde M Jones
Samuel Charache
Patricia J Hathaway
Research01 Jul 1979
Pediatric Research

Volume: 13, P: 851-853
Increased C-CRK proto-oncogene expression is associated with an aggressive phenotype in lung adenocarcinomas

Charles T Miller
Guoan Chen
David G Beer
Research11 Sept 2003
Oncogene

Volume: 22, P: 7950-7957
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Multiancestry genome-wide association analyses identify new risk loci for stroke and stroke subtypes. Fine mapping and bioinformatics analyses of these risk loci point to mechanisms not previously implicated in stroke pathophysiology.

Rainer Malik
Ganesh Chauhan
Martin Dichgans
Research12 Mar 2018
Nature Genetics

Volume: 50, P: 524-537
Sympathetic cooling of a trapped proton mediated by an LC circuit

A single electromagnetically trapped proton is sympathetically cooled to below ambient temperature by coupling it through a superconducting LC circuit to a laser-cooled cloud of Be⁺ ions stored in a spatially separated trap.

M. Bohman
V. Grunhofer
S. Ulmer
ResearchOpen Access25 Aug 2021
Nature

Volume: 596, P: 514-518
Erratum: The clock gene Per2 influences the glutamatergic system and modulates alcohol consumption

R Spanagel
G Pendyala
U Albrecht
Amendments and Corrections01 Feb 2005
Nature Medicine

Volume: 11, P: 233
BepiColombo mission confirms stagnation region of Venus and reveals its large extent

BepiColombo mission had two Venus flybys on its way to Mercury. Here, the authors show that during its second flyby of Venus BepiColombo has crossed the stagnation region, which was predicted by the models.

M. Persson
S. Aizawa
G. Murakami
ResearchOpen Access15 Dec 2022
Nature Communications

Volume: 13, P: 1-10
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk

Wei Zheng and colleagues report the results of a large-scale genome-wide association study of colorectal cancer in East Asians. They identify six new susceptibility loci, including variants near TCF7L2 and TGFB1.

Ben Zhang
Wei-Hua Jia
Wei Zheng
Research18 May 2014
Nature Genetics

Volume: 46, P: 533-542
Plasma lipid profiling of tissue-specific insulin resistance in human obesity

Birgitta W. van der Kolk
Nicole Vogelzangs
Ellen E. Blaak
Research21 Sept 2018
International Journal of Obesity

Volume: 43, P: 989-998
Corneal thickness in Fuchs' dystrophy with and without epithelial oedema

Kean T Oh
Leslie J Weil
William D Mathers
Research01 Mar 1998
Eye

Volume: 12, P: 282-284
The effects of proteins and medium-chain fatty acids from milk on body composition, insulin sensitivity and blood pressure in abdominally obese adults

M Bohl
A Bjørnshave
K Hermansen
Research09 Nov 2016
European Journal of Clinical Nutrition

Volume: 71, P: 76-82
Composite regulation of ERK activity dynamics underlying tumour-specific traits in the intestine

The ERK signalling pathway regulates homeostasis of the intestinal epithelium. Here the authors identify two modes of ERK activity generated independently from EGFR and ErbB2 receptor and whose balance in cancer is shifted by Wnt pathway activation, resulting in enhanced sensitivity to EGFR inhibitors.

Yu Muta
Yoshihisa Fujita
Masamichi Imajo
ResearchOpen Access05 Jun 2018
Nature Communications

Volume: 9, P: 1-16
Associations between weight loss history and factors related to type 2 diabetes risk in the Stop Diabetes study

F. Halali
A. Lapveteläinen
L. Karhunen
ResearchOpen Access12 Jan 2022
International Journal of Obesity

Volume: 46, P: 935-942
The association between plasma proneurotensin and glucose regulation is modified by country of birth

A. Fawad
P. M. Nilsson
L. Bennet
ResearchOpen Access20 Sept 2019
Scientific Reports

Volume: 9, P: 1-9
Interleukin-31 promotes fibrosis and T helper 2 polarization in systemic sclerosis

Systemic sclerosis (SSc) disease involves multisystem fibrosis and autoimmunity with limited treatment options. Here the authors demonstrate that IL-31 and IL-31RA are overexpressed in dermal fibroblasts from SSc patients and show that fibrosis and cytokine release can be reduced upon blocking of IL-31/IL-31RA.

Ai Kuzumi
Ayumi Yoshizaki
Shinichi Sato
ResearchOpen Access12 Oct 2021
Nature Communications

Volume: 12, P: 1-18
Twenty single-nucleotide polymorphisms in four genes encoding cardiac ion channels

H. Iwasa
M. Kurabayashi
T. Tanaka
Research01 Apr 2002
Journal of Human Genetics

Volume: 47, P: 208-212
The PINK1 kinase-driven ubiquitin ligase Parkin promotes mitochondrial protein import through the presequence pathway in living cells

M. Jacoupy
E. Hamon-Keromen
O. Corti
ResearchOpen Access14 Aug 2019
Scientific Reports

Volume: 9, P: 1-15
A Systems Genetics Approach Identified GPD1L and its Molecular Mechanism for Obesity in Human Adipose Tissue

Hao He
Dianjianyi Sun
Hong-wen Deng
ResearchOpen Access11 May 2017
Scientific Reports

Volume: 7, P: 1-15
Evidence for pressure induced unconventional quantum criticality in the coupled spin ladder antiferromagnet C₉H₁₈N₂CuBr₄

There is a class of quantum phase transitions that do not fit into the traditional Landau paradigm, but are described in terms of fractionalized degrees of freedom and emergent gauge fields. Hong et al. find evidence of such a transition in a molecular spin-1/2 antiferromagnetic ladder compound under hydrostatic pressure.

Tao Hong
Tao Ying
Stefan Wessel
ResearchOpen Access02 Jun 2022
Nature Communications

Volume: 13, P: 1-9
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
Depletion of mitochondrial methionine adenosyltransferase α1 triggers mitochondrial dysfunction in alcohol-associated liver disease

Lower activity of MATα1, which catalyzes the synthesis of the methyl donor S-adenosylmethionine, and mitochondrial dysfunction occur in alcohol-associated liver disease (ALD). Here the authors report that the peptidyl-prolyl cis/trans isomerase PIN1 mediates a selective depletion of MATα1 in the mitochondria, which contributes to mitochondrial dysfunction and fat accumulation, in mouse models of ALD.

Lucía Barbier-Torres
Ben Murray
Shelly C. Lu
ResearchOpen Access28 Jan 2022
Nature Communications

Volume: 13, P: 1-17
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Cross-ancestry genome-wide association analyses in individuals of European and East Asian ancestry identify 11 new risk loci for intracranial aneurysms and highlight a polygenic architecture explaining a substantial fraction of disease heritability.

Mark K. Bakker
Rick A. A. van der Spek
Ynte M. Ruigrok
Research16 Nov 2020
Nature Genetics

Volume: 52, P: 1303-1313
Mechanisms of weight regain after weight loss — the role of adipose tissue

In obesity management, the prevention of weight regain after weight loss is a major challenge. In this Review, the authors discuss mechanisms associated with adipose tissue that are connected to weight regain, including cellular stress, extracellular matrix remodelling and inflammation.

Marleen A. van Baak
Edwin C. M. Mariman
Reviews17 Jan 2019
Nature Reviews Endocrinology

Volume: 15, P: 274-287
Retraction Note: Enhanced insulin sensitivity, energy expenditure and thermogenesis in adipose-specific Pten suppression in mice

N Komazawa
M Matsuda
I Shimomura
Amendments and Corrections01 Jun 2005
Nature Medicine

Volume: 11, P: 691
New loci and coding variants confer risk for age-related macular degeneration in East Asians

Age-related macular degeneration (AMD) is a major cause of blindness worldwide. Here, the authors carry out a two-stage genome-wide association study for AMD and identify three new AMD risk loci, highlighting the shared and distinct genetic basis of the disease in East Asians and Europeans.

Ching-Yu Cheng
Kenji Yamashiro
Chiea Chuen Khor
ResearchOpen Access28 Jan 2015
Nature Communications

Volume: 6, P: 1-10
Heritable artificial sex chromosomes in the medaka, Oryzias latipes

H Otake
H Masuyama
M Sakaizumi
Research09 Dec 2009
Heredity

Volume: 105, P: 247-256
The BRCA2 genetic variant IVS7 + 2T → G is a mutation

M. T. Pyne
A. R. Brothman
T. Scholl
Research01 Nov 2000
Journal of Human Genetics

Volume: 45, P: 351-357
Tuning of structural, optical band gap, and electrical properties of room-temperature-grown epitaxial thin films through the Fe₂O₃:NiO ratio

Okkyun Seo
Akhil Tayal
Mamoru Yoshimoto
ResearchOpen Access13 Mar 2019
Scientific Reports

Volume: 9, P: 1-9
Femtosecond two-photon Rabi oscillations in excited He driven by ultrashort intense laser fields

Two-photon Rabi oscillations are observed in He on a timescale of 10 fs by utilizing the strong-field phenomenon known as Freeman resonance. The importance of ponderomotive shifts of both the Rydberg states and the ionization limit is highlighted.

M. Fushitani
C.-N. Liu
A. Hishikawa
Research30 Nov 2015
Nature Photonics

Volume: 10, P: 102-105
Lower dietary vitamin E intake during the second trimester is associated with insulin resistance and hyperglycemia later in pregnancy

S H Ley
A J Hanley
D L O'Connor
Research25 Sept 2013
European Journal of Clinical Nutrition

Volume: 67, P: 1154-1156
Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network

Mammalian genomes are scattered with repetitive sequences, but their biology remains largely elusive. Here, the authors show that transcription can initiate from short tandem repetitive sequences, and that genetic variants linked to human diseases are preferentially found at repeats with high transcription initiation level.

Mathys Grapotte
Manu Saraswat
Charles-Henri Lecellier
ResearchOpen Access02 Jun 2021
Nature Communications

Volume: 12, P: 1-18
The germinal center kinase (GCK)-related protein kinases HPK1 and KHS are candidates for highly selective signal transducers of Crk family adapter proteins

Wolf Oehrl
Christian Kardinal
Stephan M Feller
Research14 Oct 1998
Oncogene

Volume: 17, P: 1893-1901
Dissection of the polygenic architecture of neuronal Aβ production using a large sample of individual iPSC lines derived from Alzheimer’s disease patients

Using more than 100 independent iPSC lines derived from patients with Alzheimer’s disease, the authors discovered loci associated with the neuronal production of amyloid β and confirmed their influence using RNA interference.

Takayuki Kondo
Norikazu Hara
Haruhisa Inoue
Research17 Feb 2022
Nature Aging

Volume: 2, P: 125-139
Familial isolated noncompaction of ventricular myocardium

M. Matsuda
Masato Tsukahara
Hiroshi Mito
Research01 Mar 1999
Journal of Human Genetics

Volume: 44, P: 126-128
Amino-acid substitutions in the IKAP gene product significantly increase risk for bronchial asthma in children

S. Takeoka
M. Unoki
M. Tamari
Research01 Feb 2001
Journal of Human Genetics

Volume: 46, P: 57-63
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

Thyroid dysfunction is a common public health problem and associated with cardiovascular co-morbidities. Here, the authors carry out genome-wide meta-analysis for thyroid hormone (TH) levels, hyper- and hypothyroidism and identify SLC17A4 as a TH transporter and AADAT as a TH metabolizing enzyme.

Alexander Teumer
Layal Chaker
Marco Medici
ResearchOpen Access26 Oct 2018
Nature Communications

Volume: 9, P: 1-14
Planetary-scale streak structure reproduced in high-resolution simulations of the Venus atmosphere with a low-stability layer

A planetary-scale streak structure in the Venusian lower-cloud layer was observed by the Akatsuki orbiter. Here the authors present numerical simulations that reproduce such structure and reveal that a low-stability layer, which induces baroclinic disturbances, is essential for its formation.

Hiroki Kashimura
Norihiko Sugimoto
Yoshi-Yuki Hayashi
ResearchOpen Access09 Jan 2019
Nature Communications

Volume: 10, P: 1-11
Spin–lattice instability to a fractional magnetization state in the spinel HgCr₂O₄

M. Matsuda
H. Ueda
S.-H. Lee
Research08 Apr 2007
Nature Physics

Volume: 3, P: 397-400
Citrullinemia: Enzymatic Evidence for Genetic Heterogeneity

Nancy G Kennaway
Patricia J Harwood
Neil R M Buist
Research01 Jun 1975
Pediatric Research

Volume: 9, P: 554-558
Molecular analysis of mutations and polymorphisms of the Lewis secretor type α(1,2)-fucosyltransferase gene reveals that Taiwan aborigines are of Austronesian derivation

J.-G. Chang
Y.-C. Ko
C.-T. Peng
Research01 Feb 2002
Journal of Human Genetics

Volume: 47, P: 60-65
Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications

M. Makino
S. Horai
I. Nonaka
Research01 Mar 2000
Journal of Human Genetics

Volume: 45, P: 69-75
Relation between angiotensin-converting enzyme II genotype and atrial fibrillation in Japanese patients with hypertrophic cardiomyopathy

A. Ogimoto
M. Hamada
K. Hiwada
Research01 Apr 2002
Journal of Human Genetics

Volume: 47, P: 184-189
A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5

R. Suminaga
Y. Takeshima
M. Matsuo
Research01 Apr 2002
Journal of Human Genetics

Volume: 47, P: 196-201

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