Nature Search

Raman difference spectroscopy of tertiary and quaternary structure changes in methaemoglobins

D. L. Rousseau
J. A. Shelnutt
S.R. Simon
Research01 May 1980
Nature

Volume: 285, P: 49-51
Global spatial risk assessment of sharks under the footprint of fisheries

A global dataset of the satellite-tracked movements of pelagic sharks and fishing fleets show that sharks—and, in particular, commercially important species—have limited spatial refuge from fishing effort.

Nuno Queiroz
Nicolas E. Humphries
David W. Sims
Research24 Jul 2019
Nature

Volume: 572, P: 461-466
Feature-based molecular networking in the GNPS analysis environment

Feature-based molecular networking allows the generation of molecular networks for mass spectrometry data that can recognize isomers, incorporate relative quantification and integrate ion mobility data.

Louis-Félix Nothias
Daniel Petras
Pieter C. Dorrestein
Research24 Aug 2020
Nature Methods

Volume: 17, P: 905-908
Pronounced cytosolic aggregation of cellular prion protein in pancreatic β-cells in response to hyperglycemia

Alexander Strom
Gen-Sheng Wang
Fraser W Scott
Research04 Dec 2006
Laboratory Investigation

Volume: 87, P: 139-149
Obesity, inflammation and type II diabetes

D T Finegood
Research14 Nov 2003
International Journal of Obesity

Volume: 27, P: S4-S5
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Analysis of age of onset and disease duration in a large, international cohort of people with SOD1-ALS shows that there is a distinct phenotype and that onset and progression are decoupled.

Sarah Opie-Martin
Alfredo Iacoangeli
Christopher E. Shaw
ResearchOpen Access12 Nov 2022
Nature Communications

Volume: 13, P: 1-9
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology.

Wouter van Rheenen
Rick A. A. van der Spek
Jan H. Veldink
ResearchOpen Access06 Dec 2021
Nature Genetics

Volume: 53, P: 1636-1648
Habitat preferences, estimated abundance and behavior of tree hyrax (Dendrohyrax sp.) in fragmented montane forests of Taita Hills, Kenya

Hanna Rosti
Janne Heiskanen
Jouko Rikkinen
ResearchOpen Access15 Apr 2022
Scientific Reports

Volume: 12, P: 1-11
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Ian Blair and colleagues use genome-wide linkage analysis and whole exome sequencing to identify mutations in the CCNF gene in large cohorts of amyotrophic lateral sclerosis and frontotemporal dementia patients. In addition to validating the mutations in international cohorts, the authors also show that mutant CCNFgene product affects ubiquitination and protein degradation in cultured cells.

Kelly L. Williams
Simon Topp
Ian P. Blair
ResearchOpen Access15 Apr 2016
Nature Communications

Volume: 7, P: 1-8
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Sarah Opie-Martin
Alfredo Iacoangeli
Christopher E. Shaw
Amendments and CorrectionsOpen Access02 Jul 2024
Nature Communications

Volume: 15, P: 1-2
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

DNA sequencing of 3,864 individuals with ALS and 7,839 controls identified a novel disease gene, DNAJC7, which encodes a heat-shock protein. As DNAJC7 is an essential part of cell maintenance, mutations in DNAJC7 may lead to neurodegeneration.

Sali M. K. Farhan
Daniel P. Howrigan
Benjamin M. Neale
Research25 Nov 2019
Nature Neuroscience

Volume: 22, P: 1966-1974
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

The identification of pathogenic mutations within prion-like domains (PrLDs) of the RNA-binding proteins hnRNPA2B1 and hnRNPA1 add to our understanding of how mutations in these proteins lead to degenerative disease, and highlight the potential importance of PrLDs in degenerative diseases of the nervous system, muscle and bone.

Hong Joo Kim
Nam Chul Kim
J. Paul Taylor
Research03 Mar 2013
Nature

Volume: 495, P: 467-473
Pulmonary hypertension

Pulmonary hypertension describes a group of disorders characterized by elevated mean pulmonary artery pressure. This Primer reviews the epidemiology and pathophysiology of pulmonary hypertension, discusses diagnosis and management, and provides an overview of current open research questions.

Ana Mocumbi
Marc Humbert
Simon Stewart
Reviews04 Jan 2024
Nature Reviews Disease Primers

Volume: 10, P: 1-20
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Sali M. K. Farhan
Daniel P. Howrigan
Benjamin M. Neale
Amendments and Corrections19 Dec 2019
Nature Neuroscience

Volume: 23, P: 295
National-scale remotely sensed lake trophic state from 1984 through 2020

Michael F. Meyer
Simon N. Topp
Jacob A. Zwart
ResearchOpen Access16 Jan 2024
Scientific Data

Volume: 11, P: 1-20
Observation of the rare B_s⁰ →µ⁺µ⁻ decay from the combined analysis of CMS and LHCb data

Combined analysis of proton-proton collision data from the Large Hadron Collider at CERN by the CMS and LHCb collaborations leads to the observation of the extremely rare decay of the strange B meson into muons; the result is compatible with the standard model of particle physics, and does not show any signs of new physics, such as supersymmetry.

V. Khachatryan
A.M. Sirunyan
E. Pesen
ResearchOpen Access13 May 2015
Nature

Volume: 522, P: 68-72
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Ammar Al-Chalabi, Jan Veldink and colleagues perform a genome-wide association study for amyotrophic lateral sclerosis (ALS) in 15,156 cases and 26,242 controls. They identify three new genome-wide-significant variants and establish ALS as a complex trait with a polygenic architecture, but with a distinct and important role for low-frequency variants.

Wouter van Rheenen
Aleksey Shatunov
Jan H Veldink
Research25 Jul 2016
Nature Genetics

Volume: 48, P: 1043-1048
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition to finding an excess of rare loss-of-function NEK1 variants in ALS cases, they report a significant association between a specific NEK1 missense variant (p.Arg261His) and disease risk.

Kevin P Kenna
Perry T C van Doormaal
John E Landers
Research25 Jul 2016
Nature Genetics

Volume: 48, P: 1037-1042
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Wouter van Rheenen
Rick A. A. van der Spek
Jan H. Veldink
Amendments and CorrectionsOpen Access31 Jan 2022
Nature Genetics

Volume: 54, P: 361
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

Bradley N Smith
Stephen Newhouse
Christopher E Shaw
Research13 Jun 2012
European Journal of Human Genetics

Volume: 21, P: 102-108
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

Delnaz Roshandel
Eric J. Sanders
Helen Cockerill
ResearchOpen Access28 Sept 2023
npj Genomic Medicine

Volume: 8, P: 1-11
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Ahmad Al Khleifat
Alfredo Iacoangeli
Ammar Al-Chalabi
ResearchOpen Access28 Jan 2022
npj Genomic Medicine

Volume: 7, P: 1-8

Search

Raman difference spectroscopy of tertiary and quaternary structure changes in methaemoglobins

Global spatial risk assessment of sharks under the footprint of fisheries

Feature-based molecular networking in the GNPS analysis environment

Pronounced cytosolic aggregation of cellular prion protein in pancreatic β-cells in response to hyperglycemia

Obesity, inflammation and type II diabetes

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Habitat preferences, estimated abundance and behavior of tree hyrax (Dendrohyrax sp.) in fragmented montane forests of Taita Hills, Kenya

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Pulmonary hypertension

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

National-scale remotely sensed lake trophic state from 1984 through 2020

Observation of the rare B_s⁰ →µ⁺µ⁻ decay from the combined analysis of CMS and LHCb data

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

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