Nature Search

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

Endometriosis is a major cause of infertility. Molecular mechanisms underlying the disease involve genetic and environmental risk factors. In a meta-analysis of eleven GWA studies, Sapkota and colleagues identify five novel risk loci, implicating steroid sex hormone pathways in the pathogenesis.

Yadav Sapkota
Valgerdur Steinthorsdottir
Dale R. Nyholt
ResearchOpen Access24 May 2017
Nature Communications

Volume: 8, P: 1-12
Optimization and predictive performance of fly ash-based sustainable concrete using integrated multitask deep learning framework with interpretable machine learning techniques

Bhupesh P. Nandurkar
Jayant M. Raut
Sagar D. Shelare
ResearchOpen Access21 Aug 2025
Scientific Reports

Volume: 15, P: 1-20
Primary surface ruptures of the great Himalayan earthquakes in 1934 and 1255

The recurrence times of great Himalayan earthquakes are difficult to assess because they rarely rupture the surface. Field mapping and ¹⁴C dating of offset fluvial deposits are used to identify two great Himalayan quakes that ruptured the surface along the main plate boundary fault in AD 1255 and 1934.

S. N. Sapkota
L. Bollinger
D. Tiwari
Research16 Dec 2012
Nature Geoscience

Volume: 6, P: 71-76
A glial circadian gene expression atlas reveals cell-type and disease-specific reprogramming in response to amyloid pathology or aging

Sheehan et al. have characterized the circadian translatomes of astrocytes and microglia in the mouse cortex in the context of amyloid pathology or aging, revealing cell- and disease-specific reprogramming of neurodegeneration-related pathways.

Patrick W. Sheehan
Stuart B. Fass
Erik S. Musiek
ResearchOpen Access23 Oct 2025
Nature Neuroscience

Volume: 28, P: 2366-2379
Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis

Uterine leiomyomata (UL) or fibroids are neoplasms of the uterine smooth muscle associated with heavy menstrual bleeding and other female reproductive tract morbidity. Here, the authors identify eight previously undescribed genetic loci for UL and further look into genetic overlap with heavy menstrual bleeding and endometriosis.

C. S. Gallagher
N. Mäkinen
C. C. Morton
ResearchOpen Access24 Oct 2019
Nature Communications

Volume: 10, P: 1-11
Influence of genetic biomarkers on cardiac diseases in childhood cancer survivors: a systematic review

Naïla Aba
Claire Ducos
Nadia Haddy
ReviewsOpen Access24 May 2025
The Pharmacogenomics Journal

Volume: 25, P: 1-12
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
Associations of autozygosity with a broad range of human phenotypes

Inbreeding depression has been observed in many different species, but in humans a systematic analysis has been difficult so far. Here, analysing more than 1.3 million individuals, the authors show that a genomic inbreeding coefficient (FROH) is associated with disadvantageous outcomes in 32 out of 100 traits tested.

David W Clark
Yukinori Okada
James F Wilson
ResearchOpen Access31 Oct 2019
Nature Communications

Volume: 10, P: 1-17
Pharmacological inhibition of TBK1/IKKε blunts immunopathology in a murine model of SARS-CoV-2 infection

TANK-binding kinase-1 (TBK1) and its homologue IκB kinase-ε (IKKε) are critical in the induction of the interferon response and the response to infection by pathogens. Here the authors show that pharmacological targeting of TBK1 AND IKKε reduces the immunopathology seen in a murine model of SARS-COV-2 infection.

Tomalika R. Ullah
Matt D. Johansen
Michael P. Gantier
ResearchOpen Access18 Sept 2023
Nature Communications

Volume: 14, P: 1-13
Rsk2 inhibition induces an aneuploid post-mitotic arrest of cell cycle progression in osteosarcoma cells

Armelle Carreau
Christina Baldauf
Julia Luther
ResearchOpen Access10 Jul 2025
Cell Death Discovery

Volume: 11, P: 1-12
A novel Compound-Pareto model with applications and reliability peaks above a random threshold value at risk analysis

Mohammad Abiad
M. M. Abd El-Raouf
Yusra A. Tashkandy
ResearchOpen Access01 Jul 2025
Scientific Reports

Volume: 15, P: 1-22
Stroke genetics informs drug discovery and risk prediction across ancestries

A cross-ancestry meta-analysis of genome-wide association studies identifies association signals for stroke and its subtypes at 89 (61 new) independent loci, reveals putative causal genes, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as potential drug targets, and provides cross-ancestry integrative risk prediction.

Aniket Mishra
Rainer Malik
Stephanie Debette
ResearchOpen Access30 Sept 2022
Nature

Volume: 611, P: 115-123
Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome

Jenny N. Fung
Sally Mortlock
Grant W. Montgomery
ResearchOpen Access30 Jul 2018
Scientific Reports

Volume: 8, P: 1-19
Development of rare earth element-based hybrid aluminium composites using stir casting process

Gaurav Sapkota
Ranjan Kumar Ghadai
Kanak Kalita
ResearchOpen Access13 Nov 2024
Scientific Reports

Volume: 14, P: 1-11
Protein Degradation in Focus

In May 2024, ‘Protein Degradation in Focus’, a special symposium aimed at bringing together scientists in the targeted protein degradation (TPD) field, was held in Dundee, UK. David Zollman and Kirsten McAulay report on the topics discussed and the exciting outlook for science in the TPD space.

David Zollman
Kirsten McAulay
News & Views29 Oct 2024
Nature Chemical Biology

Volume: 20, P: 1559-1561
Erratum: Primary surface ruptures of the great Himalayan earthquakes in 1934 and 1255

S. N. Sapkota
L. Bollinger
D. Tiwari
Amendments and Corrections31 Jan 2013
Nature Geoscience

Volume: 6, P: 152
Correction: Corrigendum: Comparative genomic and phylogeographic analysis of Mycobacterium leprae

Marc Monot
Nadine Honoré
Stewart T Cole
Amendments and Corrections01 Apr 2010
Nature Genetics

Volume: 42, P: 361
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Meta-analyses of genome-wide association studies for endometriosis identify 49 distinct association signals. Fine-mapping of causal variants explores functional effects across various tissues. Genetic correlations between endometriosis and other pain conditions are also highlighted.

Nilufer Rahmioglu
Sally Mortlock
Krina T. Zondervan
Research13 Mar 2023
Nature Genetics

Volume: 55, P: 423-436
Rare and low-frequency coding variants alter human adult height

Data from over 700,000 individuals reveal the identity of 83 sequence variants that affect human height, implicating new candidate genes and pathways as being involved in growth.

Eirini Marouli
Mariaelisa Graff
Guillaume Lettre
Research01 Feb 2017
Nature

Volume: 542, P: 186-190
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Exome-wide analysis identifies rare and low-frequency coding variants associated with body mass index. Gene-based meta-analysis and functional studies implicate 13 genes, eight of which are novel, and neuronal pathways as factors in human obesity.

Valérie Turcot
Yingchang Lu
Ruth J. F. Loos
Research22 Dec 2017
Nature Genetics

Volume: 50, P: 26-41
Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease

Danish Saleheen, Benjamin Voight and colleagues perform genome-wide analysis of multi-ancestry cohorts to identify genetic associations with type 2 diabetes (T2D) and coronary heart disease (CHD). They find novel loci and show that 24% of T2D loci are also associated with CHD and that greater genetic risk of T2D increases risk of CHD.

Wei Zhao
Asif Rasheed
Danish Saleheen
Research04 Sept 2017
Nature Genetics

Volume: 49, P: 1450-1457
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Individual SNPs have small effects on anthropometric traits, yet the impact of CNVs has remained largely unknown. Here, Kutalik and co-workers perform a large-scale genome-wide meta-analysis of structural variation and find rare CNVs associated with height, weight and BMI with large effect sizes.

Aurélien Macé
Marcus A. Tuke
Zoltán Kutalik
ResearchOpen Access29 Sept 2017
Nature Communications

Volume: 8, P: 1-11
Author Correction: High permeability sub-nanometre sieve composite MoS₂ membranes

Bedanga Sapkota
Wentao Liang
Meni Wanunu
Amendments and CorrectionsOpen Access21 Jul 2020
Nature Communications

Volume: 11, P: 1
High permeability sub-nanometre sieve composite MoS₂ membranes

Molybdenum disulfide membranes are attractive for filtration of nanoscale species but should be optimized for application. Here, the authors report composite membranes with tunable surface charge, pore size and interlayer spacing, achieving efficient filtration of small-molecule dyes and osmosis.

Bedanga Sapkota
Wentao Liang
Meni Wanunu
ResearchOpen Access02 Jun 2020
Nature Communications

Volume: 11, P: 1-9
Comparative genomic and phylogeographic analysis of Mycobacterium leprae

Stewart Cole and colleagues report the genome sequence and comparative analyses of Brazilian, Indian, North American and Thai strains of Mycobacterium leprae, the etiologial agent of leprosy. They define 16 sub-types of M. leprae and examine their geographical distribution.

Marc Monot
Nadine Honoré
Stewart T Cole
Research01 Nov 2009
Nature Genetics

Volume: 41, P: 1282-1289
Oral microbiome dysbiosis among cigarette smokers and smokeless tobacco users compared to non-users

Suhana Chattopadhyay
Leena Malayil
Amy R. Sapkota
ResearchOpen Access06 May 2024
Scientific Reports

Volume: 14, P: 1-17
An environmental perspective of energy consumption, overpopulation, and human capital barriers in South Asia

Mohammad Mafizur Rahman
Muhammad Iftikhar ul Husnain
Mohammad Naim Azimi
ResearchOpen Access23 Feb 2024
Scientific Reports

Volume: 14, P: 1-14
Development-induced dispossession: Adivasi existence in the milieu of contemporary Indian texts in translation

Roshan Varughese
Soumen Mukherjee
ResearchOpen Access23 May 2024
Humanities and Social Sciences Communications

Volume: 11, P: 1-10
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes

Carotid intima-media thickness (cIMT) and plaque are associated with subclinical atherosclerosis and coronary heart disease (CHD). Here, the authors identify and prioritize genetic loci for cIMT and plaque by GWAS and colocalization approaches and further demonstrate genetic correlation with CHD and stroke.

Nora Franceschini
Claudia Giambartolomei
Christopher J. O’Donnell
ResearchOpen Access03 Dec 2018
Nature Communications

Volume: 9, P: 1-14
The RSK family of kinases: emerging roles in cellular signalling

The RSK proteins are downstream effectors of the Ras–MAPK signalling cascade. Significant advances in RSK and Ras–MAPK signal transduction expand the current models of RSK-mediated signalling and highlight important functions for RSK proteins in cell survival, growth, proliferation and migration.

Rana Anjum
John Blenis
Reviews01 Oct 2008
Nature Reviews Molecular Cell Biology

Volume: 9, P: 747-758
Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Rainer Malik
Ganesh Chauhan
Martin Dichgans
Amendments and Corrections03 Jun 2019
Nature Genetics

Volume: 51, P: 1192-1193
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration

Gestational duration depends on both maternal and fetal genetic influences. Here, the authors perform a fetal genome-wide association meta-analysis and find that a locus on 2q13 is associated with pregnancy duration and further show that the lead SNP rs7594852 changes the binding properties of transcriptional repressor HIC1.

Xueping Liu
Dorte Helenius
Bjarke Feenstra
ResearchOpen Access02 Sept 2019
Nature Communications

Volume: 10, P: 1-13
Saliva testing for COVID-19?

D. Sapkota
S. B. Thapa
J. L. Jensen
Research08 May 2020
British Dental Journal

Volume: 228, P: 658-659
Climate change-fuelled natural disasters and chronic kidney disease: a call for action

People with kidney disease are particularly vulnerable to the impacts of natural disasters and extreme weather events. As climate change is increasing the frequency and severity of these events, a robust response is needed to improve disaster preparedness and increase the resilience of these patients.

Amir Sapkota
Peter Kotanko
Comments & Opinion20 Jan 2023
Nature Reviews Nephrology

Volume: 19, P: 141-142
Infiltration of forest fire and residential wood smoke: an evaluation of air cleaner effectiveness

Prabjit Barn
Timothy Larson
Michael Brauer
Research05 Dec 2007
Journal of Exposure Science & Environmental Epidemiology

Volume: 18, P: 503-511
Linking neuroimaging and mental health data from the ABCD Study to UrbanSat measurements of macro environmental factors

In this Perspective, the authors present a model of assessing urban environmental factors’ impact on mental health by using UrbanSat measures and data from adolescents in the ABCD Study.

Ran Goldblatt
Nathalie Holz
Vince D. Calhoun
Reviews30 Oct 2024
Nature Mental Health

Volume: 2, P: 1285-1297
Climate change responses benefit from a global food system approach

A food system framework breaks down entrenched sectoral categories and existing adaptation and mitigation silos, presenting novel ways of assessing and enabling integrated climate change solutions from production to consumption.

Cynthia Rosenzweig
Cheikh Mbow
Joana Portugal-Pereira
Comments & Opinion18 Feb 2020
Nature Food

Volume: 1, P: 94-97
Pre-breeding in alfalfa germplasm develops highly differentiated populations, as revealed by genome-wide microhaplotype markers

Cesar A. Medina
Dongyan Zhao
Zhanyou Xu
ResearchOpen Access08 Jan 2025
Scientific Reports

Volume: 15, P: 1-15
Dengue dynamics, predictions, and future increase under changing monsoon climate in India

Yacob Sophia
Mathew Koll Roxy
Revati K. Phalkey
ResearchOpen Access21 Jan 2025
Scientific Reports

Volume: 15, P: 1-16
Pickled vegetables and the risk of oesophageal cancer: a meta-analysis

F Islami
J-S Ren
F Kamangar
ResearchOpen Access27 Oct 2009
British Journal of Cancer

Volume: 101, P: 1641-1647
Salt-inducible kinases (SIKs) regulate TGFβ-mediated transcriptional and apoptotic responses

Luke D. Hutchinson
Nicola J. Darling
Gopal P. Sapkota
ResearchOpen Access22 Jan 2020
Cell Death & Disease

Volume: 11, P: 1-17
Remote detection of water stress in cotton using a center pivot irrigation system-mounted sensor package

Bala R. Sapkota
Curtis B. Adams
Srinivasulu Ale
ResearchOpen Access08 Oct 2024
Scientific Reports

Volume: 14, P: 1-19
Discrepancies in precipitation trends between observational and reanalysis datasets in the Amazon Basin

Andrew Polasky
Vikrant Sapkota
Jose D. Fuentes
ResearchOpen Access01 Mar 2025
Scientific Reports

Volume: 15, P: 1-12
New insight into tuning magnetic phases of RMn₆Sn₆ kagome metals

S. X. M. Riberolles
Tianxiong Han
B. G. Ueland
ResearchOpen Access20 May 2024
npj Quantum Materials

Volume: 9, P: 1-9
Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry

Yadav Sapkota
Immaculata De Vivo
Grant W. Montgomery
ResearchOpen Access12 Sept 2017
Scientific Reports

Volume: 7, P: 1-11
Author Correction: Pre-breeding in alfalfa germplasm develops highly differentiated populations, as revealed by genome-wide microhaplotype markers

Cesar A. Medina
Dongyan Zhao
Zhanyou Xu
Amendments and CorrectionsOpen Access08 Apr 2025
Scientific Reports

Volume: 15, P: 1
Power modified XLindley distribution: Statistical properties and applications

Yusra A. Tashkandy
M. E. Bakr
Ahmed M. Gemeay
ResearchOpen Access31 Aug 2024
Scientific Reports

Volume: 14, P: 1-26
Climate risks and adaptation strategies of farmers in East Africa and South Asia

Jeetendra Prakash Aryal
Tek Bahadur Sapkota
Clare M. Stirling
ResearchOpen Access18 May 2021
Scientific Reports

Volume: 11, P: 1-14
Extreme precipitation patterns in the Asia–Pacific region and its correlation with El Niño-Southern Oscillation (ENSO)

Dong An
Jakob Eggeling
Chuansi Gao
ResearchOpen Access08 Jul 2023
Scientific Reports

Volume: 13, P: 1-12
Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries

Aniket Mishra
Rainer Malik
Stephanie Debette
Amendments and CorrectionsOpen Access14 Nov 2022
Nature

Volume: 612, P: E7

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