Nature Search

Do infections have a role in the pathogenesis of Alzheimer disease?

In 2019, the Alzheimer’s Association International Conference featured a debate on the role of infections in AD pathogenesis. Here, participants from that debate discuss the evidence regarding the infectious theory of AD and suggest avenues for future investigation.

Ruth F. Itzhaki
Todd E. Golde
Ben Readhead
Reviews09 Mar 2020
Nature Reviews Neurology

Volume: 16, P: 193-197
Whole-genome sequencing of patients with rare diseases in a national health system

Whole-genome sequencing and phenotype data sharing are introduced in a national health system to streamline diagnosis and to discover coding and non-coding variants that cause rare diseases.

Ernest Turro
William J. Astle
Willem H. Ouwehand
Research24 Jun 2020
Nature

Volume: 583, P: 96-102
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Investigation of variation in three cohorts has identified multiple genetic signals associated with the pregnancy-specific liver disorder, intrahepatic cholestasis of pregnancy, giving insight into the disease which can cause preterm birth and stillbirth.

Peter H. Dixon
Adam P. Levine
Catherine Williamson
ResearchOpen Access17 Aug 2022
Nature Communications

Volume: 13, P: 1-18
Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

Eva Hoffman, Alan Handyside and colleagues generate genome-wide maps of crossovers and chromosome segregation patterns by recovering all three products of single female human meioses. They detect a reverse chromosome segregation pattern and selection for higher recombination rates in the female germ line and report chromosomal drive against non-recombinant chromatids at meiosis II.

Christian S Ottolini
Louise J Newnham
Eva R Hoffmann
Research18 May 2015
Nature Genetics

Volume: 47, P: 727-735
Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Research06 May 2020
Nature

Volume: 583, P: 90-95
The birth of computational structural biology

Michael Levitt
Comments & Opinion01 May 2001
Nature Structural Biology

Volume: 8, P: 392-393
Plasmid-based transgenic mouse model for studying in vivomutations

A new transgenic mouse model for studying in vivo somatic mutations is based on the efficient recovery of chromosomally integrated lacZ-containing plasmids, using magnetic beads.

Michaël E. T. I. Boerrigter
Martijn E. T. Dollé
Jan Vijg
Comments & Opinion19 Oct 1995
Nature

Volume: 377, P: 657-659
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a rare lung disorder characterised by narrowing and obliteration of small pulmonary arteries ultimately leading to right heart failure. Here, the authors sequence whole genomes of over 1000 PAH patients and identify likely causal variants in GDF2, ATP13A3, AQP1 and SOX17.

Stefan Gräf
Matthias Haimel
Nicholas W. Morrell
ResearchOpen Access12 Apr 2018
Nature Communications

Volume: 9, P: 1-16
Genome-wide associations for birth weight and correlations with adult disease

Multi-ancestry genome-wide association analyses for birth weight in 153,781 individuals identified 60 genomic loci in which birth weight and fetal genotype were associated and found an inverse genetic correlation between birth weight and cardiometabolic risk.

Momoko Horikoshi
Robin N. Beaumont
Rachel M. Freathy
Research28 Sept 2016
Nature

Volume: 538, P: 248-252
Direct atomic scale determination of magnetic ion partition in a room temperature multiferroic material

Lynette Keeney
Clive Downing
Roger W. Whatmore
ResearchOpen Access11 May 2017
Scientific Reports

Volume: 7, P: 1-11
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Rachel Freathy and colleagues report results of a large-scale genome-wide association study of birth weight. They identify four loci newly associated with this trait and find overlap between birth weight–associated loci and those influencing adult height and metabolism.

Momoko Horikoshi
Hanieh Yaghootkar
Rachel M Freathy
Research02 Dec 2012
Nature Genetics

Volume: 45, P: 76-82
Oral antenatal corticosteroids evaluated in fetal sheep

Augusto F. Schmidt
Alan H. Jobe
Matthew W. Kemp
ResearchOpen Access31 Jul 2019
Pediatric Research

Volume: 86, P: 589-594
Volcanic glass from the 1.8 ka Taupō eruption (New Zealand) detected in Antarctic ice at ~ 230 CE

Stephen B. Piva
Simon J. Barker
Rewi M. Newnham
ResearchOpen Access09 Oct 2023
Scientific Reports

Volume: 13, P: 1-13

Search

Do infections have a role in the pathogenesis of Alzheimer disease?

Whole-genome sequencing of patients with rare diseases in a national health system

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

The birth of computational structural biology

Plasmid-based transgenic mouse model for studying in vivomutations

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Genome-wide associations for birth weight and correlations with adult disease

Direct atomic scale determination of magnetic ion partition in a room temperature multiferroic material

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Oral antenatal corticosteroids evaluated in fetal sheep

Volcanic glass from the 1.8 ka Taupō eruption (New Zealand) detected in Antarctic ice at ~ 230 CE

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