Nature Search

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Roger Milne and colleagues conduct a genome-wide association study for estrogen receptor (ER)-negative breast cancer combined with BRCA1 mutation carriers in a large cohort. They identify ten new risk variants and find high genetic correlation between breast cancer risk for BRCA1 mutation carriers and risk of ER-negative breast cancer in the general population.

Roger L Milne
Karoline B Kuchenbaecker
Jacques Simard
Research23 Oct 2017
Nature Genetics

Volume: 49, P: 1767-1778
Correction: Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

Audrey Letourneau
Federico A. Santoni
Stylianos E. Antonarakis
Amendments and Corrections02 Dec 2015
Nature

Volume: 531, P: 400
Low-latency automotive vision with event cameras

Use of a 20 frames per second (fps) RGB camera plus an event camera can achieve the same latency as a 5,000-fps camera with the bandwidth of a 45-fps camera without compromising accuracy.

Daniel Gehrig
Davide Scaramuzza
ResearchOpen Access29 May 2024
Nature

Volume: 629, P: 1034-1040
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Paul Pharoah and colleagues report the results of a large genome-wide association study of ovarian cancer. They identify new susceptibility loci for different epithelial ovarian cancer histotypes and use integrated analyses of genes and regulatory features at each locus to predict candidate susceptibility genes, including OBFC1.

Catherine M Phelan
Karoline B Kuchenbaecker
Paul D P Pharoah
Research27 Mar 2017
Nature Genetics

Volume: 49, P: 680-691
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Juliette Coignard
Michael Lush
Antonis C. Antoniou
ResearchOpen Access17 Feb 2021
Nature Communications

Volume: 12, P: 1-22
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma

Sergey Nikolaev, Stylianos Antonarakis and colleagues report exome sequencing of seven melanoma cell lines and matched germline cells. They identify recurring somatic mutations in MAP2K1 and MAP2K2 occurring at an overall frequency of 8%.

Sergey I Nikolaev
Donata Rimoldi
Stylianos E Antonarakis
Research25 Dec 2011
Nature Genetics

Volume: 44, P: 133-139
Biosynthetic potential of the global ocean microbiome

Global ocean microbiome survey reveals the bacterial family ‘Candidatus Eudoremicrobiaceae’, which includes some of the most biosynthetically diverse microorganisms in the ocean environment.

Lucas Paoli
Hans-Joachim Ruscheweyh
Shinichi Sunagawa
ResearchOpen Access22 Jun 2022
Nature

Volume: 607, P: 111-118
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Over 170 susceptibility loci have been identified by genome-wide association studies in breast cancer. Here, the authors interrogated the role of risk-associated variants from non-breast tissue, and using expression quantitative trait loci, identify potential target genes of known breast cancer susceptibility variants, as well as 11 regions not previously known to be associated with breast cancer risk.

Manuel A. Ferreira
Eric R. Gamazon
Georgia Chenevix-Trench
ResearchOpen Access15 Apr 2019
Nature Communications

Volume: 10, P: 1-18
Domains of genome-wide gene expression dysregulation in Down’s syndrome

By studying the transcriptome of fetal cells of monozygotic twins discordant for trisomy 21, this paper finds that differential expression between the twins is organized in domains along all chromosomes; these gene expression dysregulation domains are conserved in the mouse model of Down’s syndrome and correlate with the lamina-associated domains and replication domains.

Audrey Letourneau
Federico A. Santoni
Stylianos E. Antonarakis
Research16 Apr 2014
Nature

Volume: 508, P: 345-350
Heat shock transcription factor 1 as a therapeutic target in neurodegenerative diseases

Neurodegenerative disorders such as Alzheimer's disease and Parkinson's disease are associated with the accumulation of misfolded proteins, resulting in neuronal dysfunction and cell death. Thiele and colleagues discuss the therapeutic potential of combating protein misfolding by harnessing the natural cellular protein-folding machinery through pharmacological activation of heat shock transcription factor 1, the master regulator of chaperone protein expression.

Daniel W. Neef
Alex M. Jaeger
Dennis J. Thiele
Reviews01 Dec 2011
Nature Reviews Drug Discovery

Volume: 10, P: 930-944
Cell mechanics and the cytoskeleton

Daniel A. Fletcher
R. Dyche Mullins
Reviews27 Jan 2010
Nature

Volume: 463, P: 485-492
In vivo genome editing using novel AAV-PHP variants rescues motor function deficits and extends survival in a SOD1-ALS mouse model

Yi A. Chen
Mark W. Kankel
Shih-Ching Lo
Research01 Dec 2022
Gene Therapy

Volume: 30, P: 443-454
Factors influencing NCGENES research participants’ requests for non–medically actionable secondary findings

Myra I. Roche
Ida Griesemer
Christine Rini
Research21 Sept 2018
Genetics in Medicine

Volume: 21, P: 1092-1099
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard
Michael Lush
Antonis C. Antoniou
Amendments and CorrectionsOpen Access14 May 2021
Nature Communications

Volume: 12, P: 1-2
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes
Matti A. Rookus
Antonis C. Antoniou
ResearchOpen Access15 Jul 2020
Genetics in Medicine

Volume: 22, P: 1653-1666
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Franziska Krämer
Karen White
Bernhard HF Weber
Research15 Jun 2000
European Journal of Human Genetics

Volume: 8, P: 286-292
Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders

Nergis Güzel
Yannic Schumacher
Fabian Beier
CorrespondenceOpen Access25 Aug 2025
Blood Cancer Journal

Volume: 15, P: 1-3
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers.

Christopher Hakkaart
John F. Pearson
Logan C. Walker
ResearchOpen Access06 Oct 2022
Communications Biology

Volume: 5, P: 1-15
Systematic review of associations between gut microbiome composition and stunting in under-five children

Mwelwa Chibuye
Daniel R. Mende
Vanessa C. Harris
ReviewsOpen Access23 May 2024
npj Biofilms and Microbiomes

Volume: 10, P: 1-13
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Frank Qian
Matti A. Rookus
Dezheng Huo
ResearchOpen Access19 Jun 2019
British Journal of Cancer

Volume: 121, P: 180-192
Glued suture-less peritoneum closure in laparoscopic inguinal hernia repair reduces acute postoperative pain

Michaël Huguenin-Dezot
Sarah Peisl
Joel Zindel
ResearchOpen Access23 May 2024
Scientific Reports

Volume: 14, P: 1-9
ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects

Daniel Liedtke
Melanie Orth
Eva Klopocki
ResearchOpen Access16 Sept 2019
Scientific Reports

Volume: 9, P: 1-17

Search

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Correction: Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

Low-latency automotive vision with event cameras

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma

Biosynthetic potential of the global ocean microbiome

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Domains of genome-wide gene expression dysregulation in Down’s syndrome

Heat shock transcription factor 1 as a therapeutic target in neurodegenerative diseases

Cell mechanics and the cytoskeleton

In vivo genome editing using novel AAV-PHP variants rescues motor function deficits and extends survival in a SOD1-ALS mouse model

Factors influencing NCGENES research participants’ requests for non–medically actionable secondary findings

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Systematic review of associations between gut microbiome composition and stunting in under-five children

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Glued suture-less peritoneum closure in laparoscopic inguinal hernia repair reduces acute postoperative pain

ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects

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