Nature Search

Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy

Albert R. La Spada
Daniel B. Roling
Kenneth H. Fischbeck
Research01 Dec 1992
Nature Genetics

Volume: 2, P: 301-304
Global, regional and national burden of dietary iron deficiency from 1990 to 2021: a Global Burden of Disease study

Systematic analysis from the Global Burden of Disease study reported that, despite global improvements from 1990 to 2021, dietary iron deficiency-associated disease burden remains high in women, children and residents in low socio-demographic index countries.

Sooji Lee
Yejun Son
Nicholas. J. Kassebaum
Research22 Apr 2025
Nature Medicine

Volume: 31, P: 1809-1829
Effect of thickened liquids in facilitating full oral nutrition for the preterm infant struggling to achieve full oral feeds at term postmenstrual age

Irena K. Wilson
Gregory P. Jansen
Katlyn E. McGrattan
ResearchOpen Access22 Dec 2025
Journal of Perinatology

P: 1-7
The evidence of mtDNA haplogroup F in a European population and its ethnohistoric implications

Helle-Viivi Tolk
Lovorka Barac
Pavao Rudan
Research14 Sept 2001
European Journal of Human Genetics

Volume: 9, P: 717-723
Genetic regulation of post-translational modification of two distinct proteins

Post-translational modifications are known to diversify protein functions, but the effect of genetic variation on the modifications is not well known. Here, the authors find both shared and protein-specific genetic mechanisms regulating the glycosylation of two different proteins.

Arianna Landini
Irena Trbojević-Akmačić
Lucija Klarić
ResearchOpen Access24 Mar 2022
Nature Communications

Volume: 13, P: 1-13
Calcineurin signaling promotes takotsubo syndrome

The ‘Broken-heart’ or takotsubo syndrome (TTS) causes acute heart failure triggered by emotional or physical stress. Bruns et al. establish a clinically relevant mouse model of TTS and show the therapeutic potential of calcineurin inhibition in the treatment of TTS.

Bastian Bruns
Marilena Antoniou
Johannes Backs
ResearchOpen Access13 Jul 2023
Nature Cardiovascular Research

Volume: 2, P: 645-655
A multi-country test of brief reappraisal interventions on emotions during the COVID-19 pandemic

This Registered Report presents evidence from 87 countries and regions showing that brief emotion-regulation interventions consistently reduced negative emotions and increased positive emotions during the COVID-19 pandemic.

Ke Wang
Amit Goldenberg
Hannah Moshontz
Research02 Aug 2021
Nature Human Behaviour

Volume: 5, P: 1089-1110
Regeneration of the entire human epidermis using transgenic stem cells

Autologous transgenic epidermal stem cell cultures are used to reconstitute almost the entire epidermis of a patient with severe junctional epidermolysis bullosa.

Tobias Hirsch
Tobias Rothoeft
Michele De Luca
Research08 Nov 2017
Nature

Volume: 551, P: 327-332
Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation

Multivariate analysis methods can uncover the relationship between phenotypic measures characterised by modern omic techniques. Here the authors conduct a multivariate GWAS on IgG N-glycosylation phenotypes and identify 5 novel loci enriched in immune system genes.

Xia Shen
Lucija Klarić
Yurii S. Aulchenko
ResearchOpen Access06 Sept 2017
Nature Communications

Volume: 8, P: 1-10
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Kathryn Lunetta and colleagues report a meta-analysis of 22 genome-wide association studies for age at menopause. They identify 13 loci newly associated with age at natural menopause, including several candidate genes with roles in DNA repair and immune function.

Lisette Stolk
John R B Perry
Kathryn L Lunetta
Research22 Jan 2012
Nature Genetics

Volume: 44, P: 260-268
Crystal structure of human stearoyl–coenzyme A desaturase in complex with substrate

The crystal structure of human stearoyl-CoA desaturase-1 in complex with its natural substrate provides a close-up view of a key enzymatic step in the synthesis of unsaturated fatty acids.

Hui Wang
Michael G Klein
Bi-Ching Sang
Research22 Jun 2015
Nature Structural & Molecular Biology

Volume: 22, P: 581-585
Integrative epigenome-wide analysis demonstrates that DNA methylation may mediate genetic risk in inflammatory bowel disease

Epigenetic perturbations may be an important factor in diseases where both genes and environment play a role. Here, Ventham and colleagues show that DNA methylation changes in inflammatory bowel disease are related to the underlying genotype, and are associated with cell-specific changes to gene expression.

N. T. Ventham
N. A. Kennedy
J. Satsangi
ResearchOpen Access25 Nov 2016
Nature Communications

Volume: 7, P: 1-14
Red teaming ChatGPT in medicine to yield real-world insights on model behavior

Crystal T. Chang
Hodan Farah
Roxana Daneshjou
ResearchOpen Access07 Mar 2025
npj Digital Medicine

Volume: 8, P: 1-10
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

Veronique Vitart
Igor Rudan
Alan F Wright
Research09 Mar 2008
Nature Genetics

Volume: 40, P: 437-442
Author Correction: A multi-country test of brief reappraisal interventions on emotions during the COVID-19 pandemic

Ke Wang
Amit Goldenberg
Hannah Moshontz
Amendments and Corrections24 Aug 2022
Nature Human Behaviour

Volume: 6, P: 1318-1319
Comparative analysis of transferrin and IgG N-glycosylation in two human populations

A large-scale comparative study in two human populations analyzes human plasma transferrin and immunoglobulin G (IgG) N-glycosylation profiles and their association with age, sex, and various biochemical and physiological traits.

Irena Trbojević-Akmačić
Frano Vučković
Gordan Lauc
ResearchOpen Access23 Mar 2023
Communications Biology

Volume: 6, P: 1-13
Neurodevelopmental outcome of preterm infants enrolled in myo-inositol randomized controlled trial

Ira Adams-Chapman
Kristi L. Watterberg
Marian Willinger
Research23 Mar 2021
Journal of Perinatology

Volume: 41, P: 2072-2087
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

Elaine Tierney
Alan T. Remaley
Forbes D. Porter
ResearchOpen Access09 Sept 2021
Translational Psychiatry

Volume: 11, P: 1-13
3000 years of solitude: extreme differentiation in the island isolates of Dalmatia, Croatia

Veronique Vitart
Zrinka Biloglav
Igor Rudan
Research22 Feb 2006
European Journal of Human Genetics

Volume: 14, P: 478-487
PEDIA: prioritization of exome data by image analysis

Tzung-Chien Hsieh
Martin A. Mensah
Peter M. Krawitz
ResearchOpen Access05 Jun 2019
Genetics in Medicine

Volume: 21, P: 2807-2814

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