Nature Search

Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease

The application of partitioned polygenic scores to data from cohorts of patients identifies two distinct subtypes of MASLD with different cardiometabolic risk profiles.

Oveis Jamialahmadi
Antonio De Vincentis
Stefano Romeo
ResearchOpen Access09 Dec 2024
Nature Medicine

Volume: 30, P: 3614-3623
Disordered gambling among people with psychotic disorders: a systematic review

Anoop Sankaranarayanan
Preethi Ramanathan
David Castle
ReviewsOpen Access03 Jan 2024
Schizophrenia

Volume: 10, P: 1-12
Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

Genomic analyses of large population-based cohorts uncover the genetic determinants of perivascular space burden, an MRI marker of cerebral small vessel disease, across the lifespan, and reveal potential pathways implicated in the etiology of stroke and dementia.

Marie-Gabrielle Duperron
Maria J. Knol
Stéphanie Debette
ResearchOpen Access17 Apr 2023
Nature Medicine

Volume: 29, P: 950-962
The contributions of mitochondrial and nuclear mitochondrial genetic variation to neuroticism

Genetic variation in mitochondrial DNA can influence human traits, but it is not as well studied in association with complex traits. Here, the authors find associations between mitochondrial haplogroups and genetic variation and neuroticism.

Charley Xia
Sarah J. Pickett
W. David Hill
ResearchOpen Access30 May 2023
Nature Communications

Volume: 14, P: 1-14
Cell-free synthesis of polyketides by recombinant erythromycin polyketide synthases

Rembert Pieper
Guanglin Luo
C. Khosla
Research16 Nov 1995
Nature

Volume: 378, P: 263-266
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders

Genome-wide association analysis of irritable bowel syndrome identifies genetic susceptibility loci and highlights shared pathways with mood and anxiety disorders.

Chris Eijsbouts
Tenghao Zheng
Miles Parkes
ResearchOpen Access05 Nov 2021
Nature Genetics

Volume: 53, P: 1543-1552
Parent of origin genetic effects on methylation in humans are common and influence complex trait variation

Parent-of-origin effects (POE) are observed when there are different effects from alleles inherited from the two parents on phenotypic measures. Here, Zeng et al. study POE on DNA methylation in 5,101 individuals and identify genetic variants that associate with methylation variation via POE and their potential phenotypic consequences.

Yanni Zeng
Carmen Amador
Chris S. Haley
ResearchOpen Access27 Mar 2019
Nature Communications

Volume: 10, P: 1-13
Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases

Gastroesophageal reflux disease (GERD) is a major risk factor for Barret’s esophagus (BE) and esophageal adenocarcinoma (EA). Here, An et al. report 25 genetic loci for GERD, many of which associate with BE and EA or with other traits such as BMI.

Jiyuan An
Puya Gharahkhani
Stuart MacGregor
ResearchOpen Access16 Sept 2019
Nature Communications

Volume: 10, P: 1-10
The spatial layout of antagonistic brain regions is explicable based on geometric principles

Using analytic tools from earth sciences, we examined whether the landscape of regional changes in activity emerges from a set of common topographical causes. Our results from human fMRI and mouse calcium imaging suggest that topographical principles determine the landscape of peaks and valleys in brain activity - a spatial analog for the well documented anti-correlation between sets of brain regions over time.

Robert Leech
Rodrigo M. Braga
František Váša
ResearchOpen Access07 Jun 2025
Communications Biology

Volume: 8, P: 1-11
Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways

A meta-analysis of genome-wide association studies for neuroticism identifies novel loci, pathways and potential drug targets. Further analysis implicates specific brain regions and evaluates genetic overlap with other neuropsychiatric traits.

Mats Nagel
Philip R. Jansen
Danielle Posthuma
Research25 Jun 2018
Nature Genetics

Volume: 50, P: 920-927
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

A combined analysis of participants from the UK Biobank and the International Glaucoma Genetic Consortium identifies 85 new loci for intraocular pressure (IOP). Pathway analysis uncovers new pathways associated with both IOP and glaucoma.

Stuart MacGregor
Jue-Sheng Ong
Alex W. Hewitt
Research27 Jul 2018
Nature Genetics

Volume: 50, P: 1067-1071
Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence

Danielle Posthuma and colleagues perform a large meta-analysis for intelligence and determine genetic overlap with several neuropsychiatric and metabolic traits. They find 15 new significant loci and implicate 40 new genes, most of which are predominantly expressed in the brain.

Suzanne Sniekers
Sven Stringer
Danielle Posthuma
Research22 May 2017
Nature Genetics

Volume: 49, P: 1107-1112
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

The next step after sequencing a genome is to figure out how the cell actually uses it as an instruction manual. A large international consortium has examined 1% of the genome for what part is transcribed, where proteins are bound, what the chromatin structure looks like, and how the sequence compares to that of other organisms.

Ewan Birney
John A. Stamatoyannopoulos
Pieter J. de Jong
Research14 Jun 2007
Nature

Volume: 447, P: 799-816
Circulating biomarkers during treatment in patients with advanced biliary tract cancer receiving cediranib in the UK ABC-03 trial

Alison C. Backen
Andre Lopes
Juan W. Valle
ResearchOpen Access21 Jun 2018
British Journal of Cancer

Volume: 119, P: 27-35
Functional responses of methanogenic archaea to syntrophic growth

Christopher B Walker
Alyssa M Redding-Johanson
David A Stahl
ResearchOpen Access28 Jun 2012
The ISME Journal

Volume: 6, P: 2045-2055
Investigating genetically stratified subgroups to better understand the etiology of alcohol misuse

Anaïs B. Thijssen
Karen Chartier
Jeanne E. Savage
ResearchOpen Access25 Jul 2023
Molecular Psychiatry

Volume: 28, P: 4225-4233
Ex vivo modelling of PD-1/PD-L1 immune checkpoint blockade under acute, chronic, and exhaustion-like conditions of T-cell stimulation

Alexander Roberts
Lindsay Bentley
Nicholas M. Barnes
ResearchOpen Access17 Feb 2021
Scientific Reports

Volume: 11, P: 1-12
Genetic underpinnings of sociability in the general population

Janita Bralten
Nina R. Mota
Geert Poelmans
ResearchOpen Access30 May 2021
Neuropsychopharmacology

Volume: 46, P: 1627-1634
A whole-body Fast Field-Cycling scanner for clinical molecular imaging studies

Lionel M. Broche
P. James Ross
David J. Lurie
ResearchOpen Access18 Jul 2019
Scientific Reports

Volume: 9, P: 1-11
Effect of increased body mass index on risk of diagnosis or death from cancer

Puya Gharahkhani
Jue-Sheng Ong
Stuart MacGregor
ResearchOpen Access08 Feb 2019
British Journal of Cancer

Volume: 120, P: 565-570
Risk of COVID-19 death in cancer patients: an analysis from Guy’s Cancer Centre and King’s College Hospital in London

Beth Russell
Charlotte L. Moss
Mieke Van Hemelrijck
ResearchOpen Access16 Aug 2021
British Journal of Cancer

Volume: 125, P: 939-947

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