Nature Search

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Transancestral GWAS meta-analysis in 160,420 individuals identifies 139 loci associated with refractive error, including myopia. Newly identified genes implicate pathways involved in eye growth and light signaling cascades.

Milly S. Tedja
Robert Wojciechowski
Caroline C. W. Klaver
Research28 May 2018
Nature Genetics

Volume: 50, P: 834-848
A BDNF autocrine loop in adult sensory neurons prevents cell death

Ann Acheson
Joanne C. Conover
Ronald M. Lindsay
Research30 Mar 1995
Nature

Volume: 374, P: 450-453
Characterising acute and chronic care needs: insights from the Global Burden of Disease Study 2019

Chronic care manages long-term, progressive conditions, while acute care handles short-term ones. Here, authors show chronic conditions account for most of the global health burden, with 68% of DALYs and 93% of YLDs attributed to chronic care needs.

Cecilia Anza-Ramirez
J. Jaime Miranda
Yves Miel H. Zuniga
ResearchOpen Access07 May 2025
Nature Communications

Volume: 16, P: 1-36
Anemia prevalence in women of reproductive age in low- and middle-income countries between 2000 and 2018

Geospatial estimates of the prevalence of anemia in women of reproductive age across 82 low-income and middle-income countries reveals considerable heterogeneity and inequality at national and subnational levels, with few countries on track to meet the WHO Global Nutrition Targets by 2030.

Damaris Kinyoki
Aaron E. Osgood-Zimmerman
Simon I. Hay
ResearchOpen Access12 Oct 2021
Nature Medicine

Volume: 27, P: 1761-1782
Mapping 123 million neonatal, infant and child deaths between 2000 and 2017

A high-resolution, global atlas of mortality of children under five years of age between 2000 and 2017 highlights subnational geographical inequalities in the distribution, rates and absolute counts of child deaths by age.

Roy Burstein
Nathaniel J. Henry
Simon I. Hay
ResearchOpen Access16 Oct 2019
Nature

Volume: 574, P: 353-358
Tmem65 is critical for the structure and function of the intercalated discs in mouse hearts

The intercalated disc (ICD) is a membrane structure of the cardiac muscle involved in normal heart function. Here the authors report that knockdown of the ICD-bound transmembrane protein 65 results in impaired ICD structure, abnormal cardiac electrophysiology and cardiomyopathy in mice.

Allen C. T. Teng
Liyang Gu
Anthony O. Gramolini
ResearchOpen Access18 Oct 2022
Nature Communications

Volume: 13, P: 1-18
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities.

Puya Gharahkhani
Eric Jorgenson
Janey L. Wiggs
ResearchOpen Access24 Feb 2021
Nature Communications

Volume: 12, P: 1-16
Development and deployment of a histopathology-based deep learning algorithm for patient prescreening in a clinical trial

Here, the authors develop a deep-learning algorithm to predict biomarkers from histopathological imaging in advanced urothelial cancer patients. This method detects suitable patients for targeted therapy clinical trials with a significant reduction in molecular testing, providing cost and time savings in real-world clinical settings.

Albert Juan Ramon
Chaitanya Parmar
Kristopher A. Standish
ResearchOpen Access01 Jun 2024
Nature Communications

Volume: 15, P: 1-14
Locoregional delivery of CAR T cells to the cerebrospinal fluid for treatment of metastatic medulloblastoma and ependymoma

Intraventricularly delivered monovalent and trivalent CAR T cells exhibit greater therapeutic efficacy as compared with intravenously delivered CAR T cells in medulloblastoma xenograft mouse models and show potency in ependymoma xenograft mouse models.

Laura K. Donovan
Alberto Delaidelli
Michael D. Taylor
Research27 Apr 2020
Nature Medicine

Volume: 26, P: 720-731
Mapping routine measles vaccination in low- and middle-income countries

Although progress in the coverage of routine measles vaccination in children in low- and middle-income countries was made during 2000–2019, many countries remain far from the goal of 80% coverage in all districts by 2019.

Alyssa N. Sbarra
Sam Rolfe
Jonathan F. Mosser
ResearchOpen Access16 Dec 2020
Nature

Volume: 589, P: 415-419
Molecular classification to refine surgical and radiotherapeutic decision-making in meningioma

In a large, partially prospective cohort of patients with molecularly profiled and clinically annotated meningioma, the extent of surgical resection and radiotherapy (RT) response correlate with molecular classification, which can be used in a molecular model to predict clinical outcomes in response to RT.

Justin Z. Wang
Vikas Patil
Gelareh Zadeh
ResearchOpen Access21 Aug 2024
Nature Medicine

Volume: 30, P: 3173-3183
Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease

Openshaw and colleagues find myeloid inflammation and complement activation signatures in patients with long COVID who were previously hospitalized.

Felicity Liew
Claudia Efstathiou
J. Eunice Zhang
ResearchOpen Access08 Apr 2024
Nature Immunology

Volume: 25, P: 607-621
Gradient of Developmental and Injury Response transcriptional states defines functional vulnerabilities underpinning glioblastoma heterogeneity

Pugh and colleagues use single-cell RNA sequencing, CRISPR screens and functional assays to define a gradient of developmental and wound-response cell states in glioblastoma stem cells, revealing insights into glioblastoma origins and potential therapeutic targets.

Laura M. Richards
Owen K. N. Whitley
Trevor J. Pugh
Research04 Jan 2021
Nature Cancer

Volume: 2, P: 157-173
Divergent SARS-CoV-2 variant emerges in white-tailed deer with deer-to-human transmission

White-tailed deer are a potential reservoir of SARS-CoV-2 variants.

Bradley Pickering
Oliver Lung
Jeff Bowman
ResearchOpen Access10 Nov 2022
Nature Microbiology

Volume: 7, P: 2011-2024
High-speed laser-scanning biological microscopy using FACED

This protocol describes how to use free-space angular-chirp-enhanced delay (FACED), an all-optical, passive and reconfigurable laser-scanning approach, to increase the imaging speed of various microscopy modalities.

Queenie T. K. Lai
Gwinky G. K. Yip
Kevin K. Tsia
Protocols02 Aug 2021
Nature Protocols

Volume: 16, P: 4227-4264
Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs

Michelle J Callaghan
Amanda J Russell
Colin KW Watts
Research13 Jan 1999
Oncogene

Volume: 17, P: 3479-3491
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Qiao Fan et al. report a genome-wide association analysis of corneal curvature—an important measurement for identifying vision problems, such as myopia—in more than 45,000 individuals of either European or Asian ancestry. They identify 47 loci, 26 of which are novel, with some showing population-specific effects and pleiotropic effects on eye elongation and myopia.

Qiao Fan
Alfred Pozarickij
Ching-Yu Cheng
ResearchOpen Access19 Mar 2020
Communications Biology

Volume: 3, P: 1-14
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

Chris Jones, Jacques Grill and colleagues report the identification of recurrent activating mutations in ACVR1 in diffuse intrinsic pontine gliomas.

Kathryn R Taylor
Alan Mackay
Jacques Grill
Research06 Apr 2014
Nature Genetics

Volume: 46, P: 457-461
A comparison of proteomic, genomic, and osteological methods of archaeological sex estimation

Tammy Buonasera
Jelmer Eerkens
Glendon Parker
ResearchOpen Access17 Jul 2020
Scientific Reports

Volume: 10, P: 1-15
Improving medication adherence in adult kidney transplantation (IMAKT): A pilot randomised controlled trial

Jac Kee Low
Elizabeth Manias
Allison Williams
ResearchOpen Access22 May 2019
Scientific Reports

Volume: 9, P: 1-8
Technical and imaging factors influencing performance of deep learning systems for diabetic retinopathy

Michelle Y. T. Yip
Gilbert Lim
Daniel S. W. Ting
ResearchOpen Access23 Mar 2020
npj Digital Medicine

Volume: 3, P: 1-12
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

The International Glaucoma Genetics Consortium reports a genome-wide association study meta-analysis of optic disc parameters relevant to primary open-angle glaucoma. They identify two novel variants in PPP1R36-PLEKHG3 and SERPINE3 by multi-trait analysis in European-ancestry cohorts that were replicated in independent Asian cohorts.

Pieter W. M. Bonnemaijer
Elisabeth M. van Leeuwen
Cornelia M. van Duijn
ResearchOpen Access27 Nov 2019
Communications Biology

Volume: 2, P: 1-12
Associations with photoreceptor thickness measures in the UK Biobank

Sharon Y. L. Chua
Baljean Dhillon
Dr. Robyn Tapp
ResearchOpen Access19 Dec 2019
Scientific Reports

Volume: 9, P: 1-14
Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development

Alfred Pozarickij et al. present an analysis of effect-size heterogeneity among myopia-associated variants in the UK Biobank dataset. They find evidence for non-uniform effects for 45% of variants using a conservative cutoff, suggesting that gene-environment and/or gene-gene interactions are pervasive in myopia.

Alfred Pozarickij
Cathy Williams
Yalin Zheng
ResearchOpen Access06 May 2019
Communications Biology

Volume: 2, P: 1-8
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Gisella Figlioli
Amandine Billaud
Paolo Peterlongo
ResearchOpen Access27 Jan 2023
European Journal of Human Genetics

Volume: 31, P: 578-587
Label-free live cell recognition and tracking for biological discoveries and translational applications

Biqi Chen
Zi Yin
Dai Fei Elmer Ker
ReviewsOpen Access07 Oct 2024
npj Imaging

Volume: 2, P: 1-26

Search

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

A BDNF autocrine loop in adult sensory neurons prevents cell death

Characterising acute and chronic care needs: insights from the Global Burden of Disease Study 2019

Anemia prevalence in women of reproductive age in low- and middle-income countries between 2000 and 2018

Mapping 123 million neonatal, infant and child deaths between 2000 and 2017

Tmem65 is critical for the structure and function of the intercalated discs in mouse hearts

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Development and deployment of a histopathology-based deep learning algorithm for patient prescreening in a clinical trial

Locoregional delivery of CAR T cells to the cerebrospinal fluid for treatment of metastatic medulloblastoma and ependymoma

Mapping routine measles vaccination in low- and middle-income countries

Molecular classification to refine surgical and radiotherapeutic decision-making in meningioma

Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease

Gradient of Developmental and Injury Response transcriptional states defines functional vulnerabilities underpinning glioblastoma heterogeneity

Divergent SARS-CoV-2 variant emerges in white-tailed deer with deer-to-human transmission

High-speed laser-scanning biological microscopy using FACED

Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

A comparison of proteomic, genomic, and osteological methods of archaeological sex estimation

Improving medication adherence in adult kidney transplantation (IMAKT): A pilot randomised controlled trial

Technical and imaging factors influencing performance of deep learning systems for diabetic retinopathy

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

Associations with photoreceptor thickness measures in the UK Biobank

Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Label-free live cell recognition and tracking for biological discoveries and translational applications

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