Nature Search

Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients

Claudio Peter D’Incal
Elisa Cappuyns
Wim Vanden Berghe
ResearchOpen Access26 Jun 2024
Scientific Reports

Volume: 14, P: 1-23
Lipids modulate the dynamics of GPCR:β-arrestin interaction

GPCR:β-arrestin coupling is a dynamic process modulated by several factors, including membrane lipids. Here, authors show how PI(4,5)P2 favors the coupling of βarrestin 1 to the ghrelin receptor and modulates the arrangement of the resulting complex.

Antoniel A. S. Gomes
Michela Di Michele
Nicolas Floquet
ResearchOpen Access29 May 2025
Nature Communications

Volume: 16, P: 1-16
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

Multi-ancestry meta-analyses of genome-wide association studies for self-reported physical activity during leisure time, leisure screen time, sedentary commuting and sedentary behavior at work identify 99 loci associated with at least one of these traits.

Zhe Wang
Andrew Emmerich
Marcel den Hoed
ResearchOpen Access07 Sept 2022
Nature Genetics

Volume: 54, P: 1332-1344
A saturated map of common genetic variants associated with human height

A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.

Loïc Yengo
Sailaja Vedantam
Joel N. Hirschhorn
ResearchOpen Access12 Oct 2022
Nature

Volume: 610, P: 704-712
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Frank Kooy, Nathalie Van der Aa and colleagues report that de novo mutations in ADNP cause a syndrome characterized by autism, intellectual disability and facial dysmorphisms. ADNP encodes a transcription factor that interacts with components of the SWI/SNF chromatin remodeling complex.

Céline Helsmoortel
Anneke T Vulto-van Silfhout
Nathalie Van der Aa
Research16 Feb 2014
Nature Genetics

Volume: 46, P: 380-384
Diversification of molecular pattern recognition in bacterial NLR-like proteins

Avs proteins are bacterial anti-phage pattern recognition receptors evolutionarily related to eukaryotic NLRs. Here, Béchon et al show that a single bacterial Avs can recognize different phage proteins as a signature for infection, explaining the broad defensive range of Avs proteins.

Nathalie Béchon
Nitzan Tal
Rotem Sorek
ResearchOpen Access14 Nov 2024
Nature Communications

Volume: 15, P: 1-15
Ionic transport through a protein nanopore: a Coarse-Grained Molecular Dynamics Study

Nathalie Basdevant
Delphine Dessaux
Rosa Ramirez
ResearchOpen Access31 Oct 2019
Scientific Reports

Volume: 9, P: 1-12
Durability and cross-reactivity of immune responses induced by a plant-based virus-like particle vaccine for COVID-19

Here, the authors report results from a Phase 1 trial with an AS03-adjuvanted, plant-based virus-like particle displaying the spike protein of the ancestral SARS-CoV-2. Six months post-second dose, they observe good neutralizing antibody titers and T cell responses to ancestral virus and variants of concern in participants.

Philipe Gobeil
Stéphane Pillet
Brian J. Ward
ResearchOpen Access12 Nov 2022
Nature Communications

Volume: 13, P: 1-10
Transcriptomic-based clustering of human atherosclerotic plaques identifies subgroups with different underlying biology and clinical presentation

Mokry et al. performed bulk RNA sequencing of 654 advanced human carotid plaques from the Athero-Express biobank and 162 coronary samples, and they show that unsupervised clustering defines plaque types corresponding to different cell compositions and clinical presentations. Circulating biomarkers can be potentially used to mark the different transcriptomic-defined plaque phenotypes.

Michal Mokry
Arjan Boltjes
Gerard Pasterkamp
Research12 Dec 2022
Nature Cardiovascular Research

Volume: 1, P: 1140-1155
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont
Alexandre Reymond
Philippe Froguel
Research31 Aug 2011
Nature

Volume: 478, P: 97-102
RBD-depleted SARS-CoV-2 spike generates protective immunity in cynomolgus macaques

Hélène Letscher
Delphine Guilligay
Winfried Weissenhorn
ResearchOpen Access30 Mar 2025
npj Vaccines

Volume: 10, P: 1-16
Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis

Streptococcus pneumoniae is a causative agent of meningitis and bacteremia. In a combined pathogen and host GWAS, Lees et al. find that host genetic variation is associated with both susceptibility and severity of pneumococcal meningitis, and specific bacterial genetic variation associated with susceptibility.

John A. Lees
Bart Ferwerda
Diederik van de Beek
ResearchOpen Access15 May 2019
Nature Communications

Volume: 10, P: 1-14
Construction of a synthetic metabolic pathway for biosynthesis of the non-natural methionine precursor 2,4-dihydroxybutyric acid

2,4-Dihydroxybutyric acid has potential to be a precursor to a range of industrially important products, however a natural metabolic pathway for its synthesis does not exist. Here the authors rationally design a synthetic pathway inE. coliby engineering enzymes from malate metabolism.

Thomas Walther
Christopher M. Topham
Jean Marie François
ResearchOpen Access20 Jun 2017
Nature Communications

Volume: 8, P: 1-12
Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits

Many genetic variants have been associated with human traits, but the mechanism is often unknown. Here, the authors integrate local and distal genetic associations with multi-omics datasets to provide a roadmap to understand the underlying mechanisms of GWAS variants on complex traits.

Andrew A. Brown
Juan J. Fernandez-Tajes
Ana Viñuela
ResearchOpen Access21 Aug 2023
Nature Communications

Volume: 14, P: 1-17
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
ResearchOpen Access01 Oct 2020
Nature Communications

Volume: 11, P: 1-13
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
Amendments and CorrectionsOpen Access21 Oct 2020
Nature Communications

Volume: 11, P: 1
Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

Muscle weakness has been associated with morbidity and mortality in older people. Here, the authors have investigated this trait further by performing a genome-wide meta-analysis of grip strength and Mendelian randomization to discover causal relationships between muscle weakness and other diseases.

Garan Jones
Katerina Trajanoska
Luke C. Pilling
ResearchOpen Access28 Jan 2021
Nature Communications

Volume: 12, P: 1-11
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

Hélène Cavé
Aurélie Caye
Alain Verloes
Research13 Jan 2016
European Journal of Human Genetics

Volume: 24, P: 1124-1131
Structure of ring-shaped Aβ₄₂ oligomers determined by conformational selection

Linh Tran
Nathalie Basdevant
Tâp Ha-Duong
ResearchOpen Access12 Feb 2016
Scientific Reports

Volume: 6, P: 1-13
Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

Vitamin D deficiency is associated with multiple human pathologic conditions. In a genome-wide association study of 79,366 individuals, Jiang et al. replicate four and identify two new genetic loci for serum levels of 25-hydroxyvitamin D and find evidence for a shared genetic basis with autoimmune diseases.

Xia Jiang
Paul F. O’Reilly
Douglas P. Kiel
ResearchOpen Access17 Jan 2018
Nature Communications

Volume: 9, P: 1-12
Cyclin D1 expression is a major target of the cAMP-induced inhibition of cell cycle entry in fibroblasts

Gilles L'Allemain
Josée N Lavoie
Jacques Pouyssegur
Research24 Apr 1997
Oncogene

Volume: 14, P: 1981-1990
Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Caroline Michot
Carine Le Goff
Valérie Cormier-Daire
Research15 Jan 2014
European Journal of Human Genetics

Volume: 22, P: 1272-1277
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

Gea Beunders
Sonja A de Munnik
Erik A Sistermans
Research10 Sept 2014
European Journal of Human Genetics

Volume: 23, P: 803-807
The induction of uterine leiomyomas and mammary tumors in transgenic mice expressing polyomavirus (PyV) large T (LT) antigen is associated with the ability of PyV LT antigen to form specific complexes with retinoblastoma and CUTL1 family members

Marc A Webster
Nathalie Martin-Soudant
William J Muller
Research29 Apr 1998
Oncogene

Volume: 16, P: 1963-1972
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A Koolen
Rolph Pfundt
Bert BA de Vries
Research26 Aug 2015
European Journal of Human Genetics

Volume: 24, P: 652-659
A prospective matched case-control study on the genomic epidemiology of colistin-resistant Enterobacterales from Dutch patients

Vendrik et al performed a prospective matched case-control study on the genomic epidemiology of colistin-resistant Escherichia coli and Klebsiella pneumoniae from Dutch patients. Colistin resistance is present, but uncommon in the Netherlands and caused by the mcr gene in a minority of colistin-resistant isolates.

Karuna E. W. Vendrik
Angela de Haan
Karin van Dijk
ResearchOpen Access20 May 2022
Communications Medicine

Volume: 2, P: 1-12
A communal catalogue reveals Earth’s multiscale microbial diversity

As phase 1 of the Earth Microbiome Project, analysis of 16S ribosomal RNA sequences from more than 27,000 environmental samples delivers a global picture of the basic structure and drivers of microbial distribution.

Luke R. Thompson
Jon G. Sanders
Hongxia Zhao
ResearchOpen Access01 Nov 2017
Nature

Volume: 551, P: 457-463
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah Vergult
Ellen Van Binsbergen
Björn Menten
Research09 Oct 2013
European Journal of Human Genetics

Volume: 22, P: 652-659
G&T-seq: parallel sequencing of single-cell genomes and transcriptomes

G&T-seq offers robust full-length transcript and whole-genome sequencing simultaneously from a single cell.

Iain C Macaulay
Wilfried Haerty
Thierry Voet
Research27 Apr 2015
Nature Methods

Volume: 12, P: 519-522
Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Caroline Michot
Carine Le Goff
Valérie Cormier-Daire
Amendments and Corrections16 Oct 2014
European Journal of Human Genetics

Volume: 22, P: 1340
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

Christophe Goubau
Koen Devriendt
Kathleen Freson
Research01 May 2013
European Journal of Human Genetics

Volume: 21, P: 1349-1355
Genetic basis of falling risk susceptibility in the UK Biobank Study

Katerina Trajanoska et al. report a genome-wide association study of self-reported falls in UK Biobank participants. They identify three novel fall-associated loci and find that risk of falling shows patterns of polygenic inheritance and a SNP-based heritability of 2.7%.

Katerina Trajanoska
Lotta J. Seppala
Fernando Rivadeneira
ResearchOpen Access30 Sept 2020
Communications Biology

Volume: 3, P: 1-10

Search

Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients

Lipids modulate the dynamics of GPCR:β-arrestin interaction

Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

A saturated map of common genetic variants associated with human height

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Diversification of molecular pattern recognition in bacterial NLR-like proteins

Ionic transport through a protein nanopore: a Coarse-Grained Molecular Dynamics Study

Durability and cross-reactivity of immune responses induced by a plant-based virus-like particle vaccine for COVID-19

Transcriptomic-based clustering of human atherosclerotic plaques identifies subgroups with different underlying biology and clinical presentation

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

RBD-depleted SARS-CoV-2 spike generates protective immunity in cynomolgus macaques

Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis

Construction of a synthetic metabolic pathway for biosynthesis of the non-natural methionine precursor 2,4-dihydroxybutyric acid

Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

Structure of ring-shaped Aβ₄₂ oligomers determined by conformational selection

Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

Cyclin D1 expression is a major target of the cAMP-induced inhibition of cell cycle entry in fibroblasts

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

The induction of uterine leiomyomas and mammary tumors in transgenic mice expressing polyomavirus (PyV) large T (LT) antigen is associated with the ability of PyV LT antigen to form specific complexes with retinoblastoma and CUTL1 family members

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

A prospective matched case-control study on the genomic epidemiology of colistin-resistant Enterobacterales from Dutch patients

A communal catalogue reveals Earth’s multiscale microbial diversity

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

G&T-seq: parallel sequencing of single-cell genomes and transcriptomes

Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

Genetic basis of falling risk susceptibility in the UK Biobank Study

Search

Quick links

Search

Filter By:

Search

Quick links