Nature Search

Clinical and pathological features of chronic glaucoma in north-east Ghana

Richard Wormald
Allen Foster
Research01 Jan 1990
Eye

Volume: 4, P: 107-114
Erratum: Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

George F Mells
James A B Floyd
Carl A Anderson
Amendments and Corrections27 Oct 2011
Nature Genetics

Volume: 43, P: 1164
How good a model is the Fugu genome?

Greg Elgar
Melody Clark
Richard Sandford
Research08 May 1997
Nature

Volume: 387, P: 140
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

Primary biliary cirrhosis is an autoimmune liver disease with poor therapeutic options. Here Cordell et al. a perform meta-analysis of European genome-wide association studies identifying six novel risk loci and a number of potential therapeutic pathways.

Heather J. Cordell
Younghun Han
Katherine A. Siminovitch
ResearchOpen Access22 Sept 2015
Nature Communications

Volume: 6, P: 1-11
INTERNATIONAL SYSTEMS AND STANDARDS*

RICHARD GREGORY
News28 Nov 1942
Nature

Volume: 150, P: 620-622
Discovery of an extended sodium atmosphere around Europa

Michael E. Brown
Richard E. Hill
Research21 Mar 1996
Nature

Volume: 380, P: 229-231
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

Thomas R. W. Nixon
Allan Richards
Martin P. Snead
ResearchOpen Access19 Dec 2018
European Journal of Human Genetics

Volume: 27, P: 369-377
Effect of Chronic Malnutrition on Intestinal Structure, Epithelial Renewal, and Enzymes in Suckling Rats

Ernesto Guiraldes
J Richard Hamilton
Research01 Jun 1981
Pediatric Research

Volume: 15, P: 930-934
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
Late accretion as a natural consequence of planetary growth

The mantles of the terrestrial planets contain elemental abundances that suggest accretion continued at a late stage, after core formation. Geochemical data of meteorites from differentiated asteroids are consistent with such a late accretion event, suggesting that the phenomenon occurred throughout the Solar System and was related to planet formation.

James M. D. Day
Richard J. Walker
Douglas Rumble III
Research22 Jul 2012
Nature Geoscience

Volume: 5, P: 614-617
The contribution of X-linked coding variation to severe developmental disorders

Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male and female cases and therefore does not solely explain male bias in DDs.

Hilary C. Martin
Eugene J. Gardner
Matthew E. Hurles
ResearchOpen Access27 Jan 2021
Nature Communications

Volume: 12, P: 1-13
Pressing ahead with human genome sequencing

Richard A. Gibbs
Reviews01 Oct 1995
Nature Genetics

Volume: 11, P: 121-125
Evidence for 28 genetic disorders discovered by combining healthcare and research data

By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.

Joanna Kaplanis
Kaitlin E. Samocha
Kyle Retterer
Research14 Oct 2020
Nature

Volume: 586, P: 757-762
Asparagine restriction enhances CD8⁺ T cell metabolic fitness and antitumoral functionality through an NRF2-dependent stress response

Gnanaprakasam et al. study the amino acid requirements during different phases of T cell activation and show how asparagine restriction imparts opposing effects during early and late phases of T cell maturation through an NRF2-dependent mechanism.

J. N. Rashida Gnanaprakasam
Bhavana Kushwaha
Ruoning Wang
ResearchOpen Access07 Aug 2023
Nature Metabolism

Volume: 5, P: 1423-1439
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

Sheila Unger
Detlef Böhm
Jürgen Kohlhase
Research24 Feb 2008
Nature Genetics

Volume: 40, P: 287-289
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
ResearchOpen Access05 Nov 2018
Nature Communications

Volume: 9, P: 1-12
Prevalence and architecture of de novo mutations in developmental disorders

Whole-exome analysis of individuals with developmental disorders shows that de novo mutations can equally cause loss or altered protein function, but that most mutations causing altered protein function have not yet been described.

Jeremy F. McRae
Stephen Clayton
Matthew E. Hurles
Research25 Jan 2017
Nature

Volume: 542, P: 433-438
Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11

N Simon Thomas
Miranda Durkie
Patricia A Jacobs
Research12 Apr 2006
European Journal of Human Genetics

Volume: 14, P: 831-837
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

Carl Anderson and colleagues report a genome-wide association study identifying 13 new susceptibility loci for primary biliary cirrhosis, a chronic autoimmune liver disease.

George F Mells
James A B Floyd
Carl A Anderson
Research13 Mar 2011
Nature Genetics

Volume: 43, P: 329-332
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

Carl Anderson and colleagues report dense genotyping, using the Immunochip array, of 2,861 primary biliary cirrhosis (PBC) cases and 8,514 controls. They identify three loci newly associated with PBC, and their fine-mapping of previous susceptibility loci identifies five regions with multiple independent common, low-frequency and rare variant associations.

Jimmy Z Liu
Mohamed A Almarri
Carl A Anderson
Research09 Sept 2012
Nature Genetics

Volume: 44, P: 1137-1141
Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation

Aromatase inhibitors are used to treat oestrogen receptor positive breast cancers but the molecular basis for the response of patients is unclear. Here, the authors use samples from an aromatase inhibitor clinical trial and show that tumours from poor responders have more mutations than good responders and also more frequently harbour p53 mutations.

Pascal Gellert
Corrinne V. Segal
Peter Donnelly
ResearchOpen Access09 Nov 2016
Nature Communications

Volume: 7, P: 1-11
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

Tom Karlsen and colleagues report an association study for primary sclerosing cholangitis (PSC), a severe liver disease, using the Immunochip array. They identify nine loci newly associated with PSC and examine pleiotropy with other autoimmune disorders.

Jimmy Z Liu
Johannes Roksund Hov
Tom H Karlsen
Research21 Apr 2013
Nature Genetics

Volume: 45, P: 670-675
Cognitive impairment in people living with HIV: consensus recommendations for a new approach

Current approaches to classifying cognitive impairment in people living with HIV can overestimate disease burden and lead to ambiguity around disease mechanisms. In this Consensus Statement, the International HIV-Cognition Working Group have outlined six recommendations towards a new approach, intended to better represent changes in the spectrum of HIV disease in the modern era of antiretroviral therapy.

Sam Nightingale
Beau Ances
Alan Winston
Reviews13 Jun 2023
Nature Reviews Neurology

Volume: 19, P: 424-433
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

Konstantinos Lazaridis, Carl Anderson and colleagues report results of a genome-wide association study of primary sclerosing cholangitis (PSC). They identify four new susceptibility loci for PSC and quantify the correlation of common genetic variation shared between PSC and inflammatory bowel diseases.

Sun-Gou Ji
Brian D Juran
Carl A Anderson
Research19 Dec 2016
Nature Genetics

Volume: 49, P: 269-273
Applications of Biotechnology to the Production, Recovery and Use of Marine Polysaccharides

Ronald M. Weiner
Rita R. Colwell
Dale B. Bonar
Reviews01 Oct 1985
Bio/Technology

Volume: 3, P: 899-902
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
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access15 Feb 2019
Nature Communications

Volume: 10, P: 1-4
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
ResearchOpen Access22 Jan 2018
Scientific Reports

Volume: 8, P: 1-17
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

Eamonn R. Maher
Julian Adlard
Richard N. Sandford
ResearchOpen Access19 Feb 2022
British Journal of Cancer

Volume: 126, P: 1339-1345
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access02 May 2019
Nature Communications

Volume: 10, P: 1-4
Analysis of published PKD1 gene sequence variants

Alexander M Gout
Peter C Harris
David Ravine
Correspondence01 Apr 2007
Nature Genetics

Volume: 39, P: 427-428
Polycystin-1 inhibits eIF2α phosphorylation and cell apoptosis through a PKR-eIF2α pathway

Yan Tang
Zuocheng Wang
Xing-Zhen Chen
ResearchOpen Access13 Sept 2017
Scientific Reports

Volume: 7, P: 1-9
Using ancestry-informative markers to identify fine structure across 15 populations of European origin

Laura M Huckins
Vesna Boraska
Ioanna Tachmazidou
ResearchOpen Access19 Feb 2014
European Journal of Human Genetics

Volume: 22, P: 1190-1200
A genome-wide association study of anorexia nervosa

V Boraska
C S Franklin
C M Bulik
Research11 Feb 2014
Molecular Psychiatry

Volume: 19, P: 1085-1094
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
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
Amendments and CorrectionsOpen Access03 Sept 2018
Scientific Reports

Volume: 8, P: 1-4

Search

Clinical and pathological features of chronic glaucoma in north-east Ghana

Erratum: Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

How good a model is the Fugu genome?

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

INTERNATIONAL SYSTEMS AND STANDARDS*

Discovery of an extended sodium atmosphere around Europa

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

Effect of Chronic Malnutrition on Intestinal Structure, Epithelial Renewal, and Enzymes in Suckling Rats

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Late accretion as a natural consequence of planetary growth

The contribution of X-linked coding variation to severe developmental disorders

Pressing ahead with human genome sequencing

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Asparagine restriction enhances CD8⁺ T cell metabolic fitness and antitumoral functionality through an NRF2-dependent stress response

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Prevalence and architecture of de novo mutations in developmental disorders

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

Cognitive impairment in people living with HIV: consensus recommendations for a new approach

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

Applications of Biotechnology to the Production, Recovery and Use of Marine Polysaccharides

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

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Analysis of published PKD1 gene sequence variants

Polycystin-1 inhibits eIF2α phosphorylation and cell apoptosis through a PKR-eIF2α pathway

Using ancestry-informative markers to identify fine structure across 15 populations of European origin

A genome-wide association study of anorexia nervosa

Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

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