Nature Search

Diminishing benefits of urban living for children and adolescents’ growth and development

The advantage of living in cities compared with rural areas with respect to height and BMI in children and adolescents has generally become smaller globally from 1990 to 2020, except in sub-Saharan Africa.

Anu Mishra
Bin Zhou
Majid Ezzati
ResearchOpen Access29 Mar 2023
Nature

Volume: 615, P: 874-883
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Meta-analyses in up to 1.3 million individuals identify 87 rare-variant associations with blood pressure traits. On average, rare variants exhibit effects ~8 times larger than the mean effects of common variants and implicate candidate causal genes at associated regions.

Praveen Surendran
Elena V. Feofanova
Joanna M. M. Howson
Research23 Nov 2020
Nature Genetics

Volume: 52, P: 1314-1332
Phospholamban antisense oligonucleotides improve cardiac function in murine cardiomyopathy

Heart failure is a major cause of morbidity and mortality worldwide. Here the authors show that subcutaneous administration of antisense oligonucleotides targeting PLN is an effective strategy in preclinical models of genetic cardiomyopathy and ischemia-driven heart failure.

Niels Grote Beverborg
Daniela Später
Peter van der Meer
ResearchOpen Access30 Aug 2021
Nature Communications

Volume: 12, P: 1-15
Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders

Ruth Loos and colleagues report a meta-analysis of genome-wide association studies in 181,171 individuals identifying 14 new loci associated with heart rate and test these for association with cardiac conduction, rhythm disorders and cardiovascular disease. Their experimental studies in Drosophila melanogaster and zebrafish models provide support for a role for 20 candidate genes at 11 of these loci in regulation of heart rate.

Marcel den Hoed
Mark Eijgelsheim
Ruth J F Loos
Research14 Apr 2013
Nature Genetics

Volume: 45, P: 621-631
Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

Genome-wide and metagenome-wide association study of 92 cardiovascular-diseases-related proteins identifies genetic and microbial factors that explain 76.6% of inter-individual variation, highlighting the role of gut microbiome in cardiovascular disease.

Daria V. Zhernakova
Trang H. Le
Jingyuan Fu
Research24 Sept 2018
Nature Genetics

Volume: 50, P: 1524-1532
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Laura Fachal
Hugues Aschard
Alison M. Dunning
Research07 Jan 2020
Nature Genetics

Volume: 52, P: 56-73
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

Nona Sotoodehnia and colleagues report a meta-analysis of 14 genome-wide association studies for QRS interval, an electrocardiogram measurement of cardiac ventricular conduction. They identify 22 loci associated with QRS duration.

Nona Sotoodehnia
Aaron Isaacs
Dan E Arking
Research14 Nov 2010
Nature Genetics

Volume: 42, P: 1068-1076
RIF1 promotes replication fork protection and efficient restart to maintain genome stability

Replication fork degradation can result in genome instability. Here authors reveal a role for Rif1 protein in protecting stalled replication forks from undergoing extensive, DNA2-dependent, degradation.

Chirantani Mukherjee
Vivek Tripathi
Arnab Ray Chaudhuri
ResearchOpen Access23 Jul 2019
Nature Communications

Volume: 10, P: 1-16
Seventy-five genetic loci influencing the human red blood cell

A series of genetic studies have led to the discovery of novel independent loci and candidate genes associated with red blood cell phenotype; for a proportion of these genes potential single-nucleotide genetic variants are also identified, providing new insights into genetic pathways controlling red blood cell formation, function and pathology.

Pim van der Harst
Weihua Zhang
John C. Chambers
Research05 Dec 2012
Nature

Volume: 492, P: 369-375
Sister chromatid exchanges induced by perturbed replication can form independently of BRCA1, BRCA2 and RAD51

Sister chromatid exchanges (SCEs) are considered to be products of homologous recombination repair. The authors show that SCEs can arise independently of homologous recombination due to processing of replication intermediates during mitosis.

Anne Margriet Heijink
Colin Stok
Marcel A. T. M. van Vugt
ResearchOpen Access07 Nov 2022
Nature Communications

Volume: 13, P: 1-16
Chronic kidney disease and incident cancer risk: an individual participant data meta-analysis

Yejin Mok
Aditya Surapaneni
Michael G. Shlipak
ResearchOpen Access06 Sept 2025
British Journal of Cancer

P: 1-9
New gene functions in megakaryopoiesis and platelet formation

A meta-analysis of genome-wide association studies in more than 66,000 individuals identifies 68 new genomic loci that reliably associate with platelet count and volume, and reveals new gene functions.

Christian Gieger
Aparna Radhakrishnan
Nicole Soranzo
Research30 Nov 2011
Nature

Volume: 480, P: 201-208
Author Correction: Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

Daria V. Zhernakova
Trang H. Le
Jingyuan Fu
Amendments and Corrections19 Oct 2018
Nature Genetics

Volume: 50, P: 1752
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Christopher Newton-Cheh and colleagues report genome-wide association analyses for QT interval, an electrocardiographic measure reflecting myocardial repolarization, in 100,000 individuals. They identify 35 loci associated with QT interval and highlight a role for calcium regulation in myocardial repolarization.

Dan E Arking
Sara L Pulit
Christopher Newton-Cheh
Research22 Jun 2014
Nature Genetics

Volume: 46, P: 826-836
Common variants near TERC are associated with mean telomere length

Nilesh Samani and colleagues report a genome-wide association study that identifies variants near the TERC locus associated to variance in mean telomere length.

Veryan Codd
Massimo Mangino
Nilesh J Samani
Research07 Feb 2010
Nature Genetics

Volume: 42, P: 197-199
Specific MAP-Kinase Blockade Protects against Renal Damage in Homozygous TGR(mRen2)27 Rats

Martin H de Borst
Gerjan Navis
Harry van Goor
Research01 Dec 2003
Laboratory Investigation

Volume: 83, P: 1761-1770
Macrophages take centre stage in the heart–brain–kidney axis

A new study reports that a heart–brain–kidney network involving renal and cardiac macrophages is required for the adaptive response to cardiac stress. As well as highlighting the importance of inter-organ communication in complex pathological syndromes, the findings raise important questions with implications for the treatment of heart failure.

Herman H.W. Silljé
Rudolf A. de Boer
News & Views30 May 2017
Nature Reviews Nephrology

Volume: 13, P: 388-390
Identification of patients with preclinical heart failure with preserved ejection fraction using the H₂FPEF score

Borlaug et al. show that, among patients where heart failure was excluded, an increasing H₂FPEF score was associated with greater left atrial dilation, left ventricular hypertrophy and more severe diastolic dysfunction.

Katlyn E. Koepp
Yogesh N. V. Reddy
Barry A. Borlaug
Research12 Jan 2022
Nature Cardiovascular Research

Volume: 1, P: 59-66
A Kinase Interacting Protein 1 (AKIP1) promotes cardiomyocyte elongation and physiological cardiac remodelling

Kirsten T. Nijholt
Pablo I. Sánchez-Aguilera
B. Daan Westenbrink
ResearchOpen Access10 Mar 2023
Scientific Reports

Volume: 13, P: 1-13
The immune checkpoint TIM-3/HMGB-1 axis in myocardial infarction

Laura I. Yousif
Aukje G. Sijtema
Wouter C. Meijers
ResearchOpen Access27 Jun 2025
npj Cardiovascular Health

Volume: 2, P: 1-12
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Genome-wide analyses identify multiple loci associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular (LV) traits. Cardiomyopathies exhibit strong genetic correlations with LV traits, with opposing effects in HCM and DCM.

Rafik Tadros
Catherine Francis
Connie R. Bezzina
Research25 Jan 2021
Nature Genetics

Volume: 53, P: 128-134
Pirfenidone in heart failure with preserved ejection fraction: a randomized phase 2 trial

In a double-blind, randomized phase 2 trial, treatment of patients with heart failure with preserved ejection fraction (HFpEF) with the oral antifibrotic agent pirfenidone reduced myocardial fibrosis.

Gavin A. Lewis
Susanna Dodd
Christopher A. Miller
Research12 Aug 2021
Nature Medicine

Volume: 27, P: 1477-1482
The Fc-region of a new class of intact bispecific antibody mediates activation of accessory cells and NK cells and induces direct phagocytosis of tumour cells

R Zeidler
J Mysliwietz
H Lindhofer
ResearchOpen Access20 Jun 2000
British Journal of Cancer

Volume: 83, P: 261-266
Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Praveen Surendran
Elena V. Feofanova
Joanna M. M. Howson
Amendments and Corrections16 Mar 2021
Nature Genetics

Volume: 53, P: 762
A Kinase Interacting Protein 1 regulates mitochondrial protein levels in energy metabolism and promotes mitochondrial turnover after exercise

Kirsten T. Nijholt
Pablo I. Sánchez-Aguilera
B. Daan Westenbrink
ResearchOpen Access01 Nov 2023
Scientific Reports

Volume: 13, P: 1-13
Identification of seven loci affecting mean telomere length and their association with disease

Nilesh Samani and colleagues report a meta-analysis of genome-wide association studies for mean leukocyte telomere length in 37,684 individuals, with replication of selected variants in an additional 10,739 individuals. They identify seven loci associated with mean telomere length, including two that have been associated with several cancers, and also find that alleles associated with shorter telomere length were associated with a higher risk of coronary artery disease.

Veryan Codd
Christopher P Nelson
Nilesh J Samani
Research27 Mar 2013
Nature Genetics

Volume: 45, P: 422-427
Dapagliflozin across the range of ejection fraction in patients with heart failure: a patient-level, pooled meta-analysis of DAPA-HF and DELIVER

A pre-specified meta-analysis of pooled, individual patient-level data from the DELIVER and DAPA-HF trials, testing dapagliflozin in patients with heart failure, demonstrates reductions in risk of cardiovascular-associated deaths and hospital admissions for heart failure, regardless of ejection fraction.

Pardeep S. Jhund
Toru Kondo
John J. V. McMurray
ResearchOpen Access27 Aug 2022
Nature Medicine

Volume: 28, P: 1956-1964
The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy

Tim R. Eijgenraam
Bastiaan J. Boukens
Rudolf A. de Boer
ResearchOpen Access17 Jun 2020
Scientific Reports

Volume: 10, P: 1-13
Quantitative proteomics analysis identifies MUC1 as an effect sensor of EGFR inhibition

H. Rudolf de Boer
Martin Pool
Marcel A. T. M. van Vugt
Research10 Oct 2018
Oncogene

Volume: 38, P: 1477-1488
Kidney and heart failure outcomes associated with SGLT2 inhibitor use

Clinical trials have demonstrated sodium–glucose co-transporter 2 (SGLT2) inhibitors to be safe and effective drugs that improve kidney outcomes in patients with and without diabetes. SGLT2 inhibitors also improve heart failure outcomes for patients with preserved or reduced ejection fraction. This Review summarizes findings from clinical trials of SGLT2 inhibitors, focusing on the effects of these agents in patients with chronic kidney disease and heart failure, and describes how potential mechanisms of action may translate into clinical benefit.

Annemarie B. van der Aart-van der Beek
Rudolf A. de Boer
Hiddo J. L. Heerspink
Reviews10 Feb 2022
Nature Reviews Nephrology

Volume: 18, P: 294-306
Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy

Tim R. Eijgenraam
Bastiaan J. Boukens
Rudolf A. de Boer
Amendments and CorrectionsOpen Access02 Oct 2020
Scientific Reports

Volume: 10, P: 1
Activation of liver X receptor-α reduces activation of the renal and cardiac renin–angiotensin–aldosterone system

Irma Kuipers
Pim van der Harst
Rudolf A de Boer
Research01 Feb 2010
Laboratory Investigation

Volume: 90, P: 630-636
The emerging plasma biomarker Dickkopf-3 (DKK3) and its association with renal and cardiovascular disease in the general population

Arnold Piek
Leonie Smit
Herman H. W. Silljé
ResearchOpen Access21 Apr 2021
Scientific Reports

Volume: 11, P: 1-8
Pharmacological myeloperoxidase (MPO) inhibition in an obese/hypertensive mouse model attenuates obesity and liver damage, but not cardiac remodeling

Arnold Piek
Debby P. Y. Koonen
Herman H. W. Silljé
ResearchOpen Access10 Dec 2019
Scientific Reports

Volume: 9, P: 1-12
Relative fat mass and prediction of incident atrial fibrillation, heart failure and coronary artery disease in the general population

Victor W. Zwartkruis
Navin Suthahar
Rudolf A. de Boer
Research09 Sept 2023
International Journal of Obesity

Volume: 47, P: 1256-1262
Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

A. Mesut Erzurumluoglu
Mengzhen Liu
Joanna M. M. Howson
ResearchOpen Access07 Jan 2019
Molecular Psychiatry

Volume: 25, P: 2392-2409
Language in schizophrenia: relation with diagnosis, symptomatology and white matter tracts

J. N. de Boer
M. van Hoogdalem
I. E. C. Sommer
ResearchOpen Access20 Apr 2020
npj Schizophrenia

Volume: 6, P: 1-10
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Audrey E. Hendricks
Elena G. Bochukova
Hou-Feng Zheng
ResearchOpen Access29 Jun 2017
Scientific Reports

Volume: 7, P: 1-14
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

A Hinney
M Kesselmeier
J Hebebrand
Research17 May 2016
Molecular Psychiatry

Volume: 22, P: 192-201
Polymorphisms in the NPY and AGRP genes and body fatness in Dutch adults

C T M van Rossum
H Pijl
J C Seidell
Research28 Mar 2006
International Journal of Obesity

Volume: 30, P: 1522-1528

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