Nature Search

Selective remodelling of the adipose niche in obesity and weight loss

An atlas study of adipose tissue in people with obesity undergoing weight loss and their lean counterparts reveals that weight loss reduces cell senescence but cannot reverse all the metabolic problems caused by obesity.

Antonio M. A. Miranda
Liam McAllan
William R. Scott
ResearchOpen Access09 Jul 2025
Nature

Volume: 644, P: 769-779
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Individuals with biscuspid aortic valve and ascending aortic aneurysm show enrichment of rare variants in ROBO4. Functional studies suggest that ROBO4 mutations disrupt endothelial cell performance and contribute to pathological remodeling of aortic tissues.

Russell A. Gould
Hamza Aziz
Harry C. Dietz
Research19 Nov 2018
Nature Genetics

Volume: 51, P: 42-50
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

Eileen Sproat Emison
Andrew S. McCallion
Aravinda Chakravarti
Research14 Apr 2005
Nature

Volume: 434, P: 857-863
A candidate gene for human neurodegenerative disorders: a rat PKCγ mutation causes a Parkinsonian syndrome

Nicola J. Craig
María B. Durán Alonso
R. Wayne Davies
Research15 Oct 2001
Nature Neuroscience

Volume: 4, P: 1061-1062
Mating proximity blinds threat perception

A state-dependent dopamine filter system in the male Drosophila brain balances threat perception against the drive to mate.

Laurie Cazalé-Debat
Lisa Scheunemann
Carolina Rezaval
ResearchOpen Access28 Aug 2024
Nature

Volume: 634, P: 635-643
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

Minerva M. Carrasquillo
Andrew S. McCallion
Aravinda Chakravarti
Research23 Sept 2002
Nature Genetics

Volume: 32, P: 237-244
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Harry Dietz and colleagues report the identification of mutations in SKI in Shprintzen-Goldberg syndrome, which shares features with Marfan syndrome and Loeys-Dietz syndrome. SKI encodes a known repressor of TGF-β activity, and this work provides evidence for paradoxical increased TGF-β signaling as the mechanism underlying these related syndromes.

Alexander J Doyle
Jefferson J Doyle
Harry C Dietz
Research30 Sept 2012
Nature Genetics

Volume: 44, P: 1249-1254
A method to predict the impact of regulatory variants from DNA sequence

Michael Beer and colleagues report a metric based on a regulatory region annotation method, gkm-SVM, and use this to predict the effects of regulatory variants from sequencing and DNase I–hypersensitive site data. They apply their method to autoimmune disease GWAS data and report several new predictions for causal SNPs.

Dongwon Lee
David U Gorkin
Michael A Beer
Research15 Jun 2015
Nature Genetics

Volume: 47, P: 955-961
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

Mutations in ADAMTS19 lead to progressive heart valve disease in humans. Analysis of mice lacking Adamts19 highlights the role of a Wnt–Adamts19–Klf2 axis in proper valve function.

Florian Wünnemann
Asaf Ta-Shma
Gregor Andelfinger
Research16 Dec 2019
Nature Genetics

Volume: 52, P: 40-47
Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish

Shannon Fisher
Elizabeth A Grice
Andrew S McCallion
Protocols12 Oct 2006
Nature Protocols

Volume: 1, P: 1297-1305
Mesenchymal state of intimal cells may explain higher propensity to ascending aortic aneurysm in bicuspid aortic valves

Shohreh Maleki
Sanela Kjellqvist
Hanna M. Björck
ResearchOpen Access25 Oct 2016
Scientific Reports

Volume: 6, P: 1-16
The skin microbiome

Human skin is colonized by a diverse range of microorganisms. In this Review, Grice and Segre describe how molecular techniques are improving our understanding of our skin microbiota, the factors that affect its composition and its relationship with skin disorders.

Elizabeth A. Grice
Julia A. Segre
Reviews16 Mar 2011
Nature Reviews Microbiology

Volume: 9, P: 244-253
Altered DNA methylation indicates an oscillatory flow mediated epithelial-to-mesenchymal transition signature in ascending aorta of patients with bicuspid aortic valve

Hanna M. Björck
Lei Du
Gregor Andelfinger
ResearchOpen Access09 Feb 2018
Scientific Reports

Volume: 8, P: 1-15

Search

Selective remodelling of the adipose niche in obesity and weight loss

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

A candidate gene for human neurodegenerative disorders: a rat PKCγ mutation causes a Parkinsonian syndrome

Mating proximity blinds threat perception

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

A method to predict the impact of regulatory variants from DNA sequence

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish

Mesenchymal state of intimal cells may explain higher propensity to ascending aortic aneurysm in bicuspid aortic valves

The skin microbiome

Altered DNA methylation indicates an oscillatory flow mediated epithelial-to-mesenchymal transition signature in ascending aorta of patients with bicuspid aortic valve

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