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Showing 1–50 of 59 results

Advanced filters: Author: Shirley Robertson Clear advanced filters

Disruption of imprinting caused by deletion of the H19 gene region in mice

Philip A. Leighton
Robert S. Ingram
Shirley M. Tilghman
Research04 May 1995
Nature

Volume: 375, P: 34-39
Physical linkage of two mammalian imprinted genes, H19 and insulin–like growth factor 2

Sharon Zemel
Marisa S. Bartolomei
Shirley M. Tilghman
Research01 Sept 1992
Nature Genetics

Volume: 2, P: 61-65
Myeloid leukaemia inhibitory factor maintains the developmental potential of embryonic stem cells

R. Lindsay Williams
Douglas J. Hilton
Nicholas M. Gough
Research15 Dec 1988
Nature

Volume: 336, P: 684-687
Parental imprinting of the mouse H19 gene

Marisa S. Bartolomei
Sharon Zemel
Shirley M. Tilghman
Research09 May 1991
Nature

Volume: 351, P: 153-155
Air Raid Precautions

J. D. BERNAL
J. H. FREMLIN
W. A. WOOSTER
Research01 May 1937
Nature

Volume: 139, P: 760-761
Unexpected Dose-rate Effect in the Killing of Mice by Radiation

SHIRLEY HORNSEY
TIKVAH ALPER
Research09 Apr 1966
Nature

Volume: 210, P: 212-213
Genomic imprinting of Mash2, a mouse gene required for trophoblast development

François Guillemot
Tamara Caspary
András Nagy
Research01 Mar 1995
Nature Genetics

Volume: 9, P: 235-242
Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour

Marja J. C. Steenman
Shirley Rainier
Andrew P. Feinberg
Research01 Jul 1994
Nature Genetics

Volume: 7, P: 433-439
A paternal–specific methylation imprint marks the alleles of the mouse H19 gene

Kimberly D. Tremblay
Jennifer R. Saam
Marisa S. Bartolomei
Research01 Apr 1995
Nature Genetics

Volume: 9, P: 407-413
Does implementing COPD guidelines improve patient care and save money in practice?

Rupert Jones
Shirley Copper
Research01 Mar 1999
Primary Care Respiratory Journal

Volume: 7, P: 12-15
Relaxation of imprinted genes in human cancer

Shirley Rainier
Laura A. Johnson
Andrew P. Feinberg
Research22 Apr 1993
Nature

Volume: 362, P: 747-749
Identification of Skin in Airborne Particulate Matter

R. P. CLARK
S. G. SHIRLEY
Research02 Nov 1973
Nature

Volume: 246, P: 39-40
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Erola Pairo-Castineira
Konrad Rawlik
J. Kenneth Baillie
ResearchOpen Access17 May 2023
Nature

Volume: 617, P: 764-768
SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway

The Omicron variant evades vaccine-induced neutralization but also fails to form syncytia, shows reduced replication in human lung cells and preferentially uses a TMPRSS2-independent cell entry pathway, which may contribute to enhanced replication in cells of the upper airway. Altered fusion and cell entry characteristics are linked to distinct regions of the Omicron spike protein.

Brian J. Willett
Joe Grove
Emma C. Thomson
ResearchOpen Access07 Jul 2022
Nature Microbiology

Volume: 7, P: 1161-1179
Dimethyl fumarate in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial

Dimethyl fumarate (DMF) is an anti-inflammatory drug proposed as a treatment for COVID19. Here the results are reported from a randomised trial testing DMF treatment in 713 patients hospitalised with COVID-19. DMF was not associated with any improvement in day 5 outcomes.

Peter Sandercock
Janet Darbyshire
Martin J. Landray
ResearchOpen Access31 Jan 2024
Nature Communications

Volume: 15, P: 1-13
Polymerase chain reaction amplification of the RuBisCo small subunit genes and their novel application to plant tissue identification

J M Appleby
G Nelson
P F Hamlyn
Research01 Dec 1997
Heredity

Volume: 79, P: 557-563
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Timing of whole genome duplication is associated with tumor-specific MHC-II depletion in serous ovarian cancer

There is high prevalence of whole genome duplication (WGD) in high grade serous ovarian cancer. Here, the authors compare tumours with and without WGD and find that those that acquired WGD early during tumour evolution are associated with worse survival and have the lowest expression of MHC-II.

Nikki L. Burdett
Madelynne O. Willis
Elizabeth L. Christie
ResearchOpen Access18 Jul 2024
Nature Communications

Volume: 15, P: 1-13
SARS-CoV-2 evolution during treatment of chronic infection

Chronic infection with SARS-CoV-2 leads to the emergence of viral variants that show reduced susceptibility to neutralizing antibodies in an immunosuppressed individual treated with convalescent plasma.

Steven A. Kemp
Dami A. Collier
Ravindra K. Gupta
Research05 Feb 2021
Nature

Volume: 592, P: 277-282
Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Sera from vaccinated individuals and some monoclonal antibodies show a modest reduction in neutralizing activity against the B.1.1.7 variant of SARS-CoV-2; but the E484K substitution leads to a considerable loss of neutralizing activity.

Dami A. Collier
Anna De Marco
Ravindra K. Gupta
Research11 Mar 2021
Nature

Volume: 593, P: 136-141
Fitness and its role in evolutionary genetics

The concept of fitness is fundamental to understanding natural selection, but defining and measuring fitness involves some subtle distinctions. This Review explains theoretical aspects of fitness, introduces current experimental approaches and highlights issues that remain unresolved.

H. Allen Orr
Reviews01 Aug 2009
Nature Reviews Genetics

Volume: 10, P: 531-539
Signatures of T cell dysfunction and exclusion predict cancer immunotherapy response

An algorithm-selected gene signature focused on tumor immune evasion and suppression predicts response to immune checkpoint blockade in melanoma, exceeding the accuracy of current clinical biomarkers.

Peng Jiang
Shengqing Gu
X. Shirley Liu
Research20 Aug 2018
Nature Medicine

Volume: 24, P: 1550-1558
Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England

Genetic and testing data from England show that the SARS-CoV-2 variant of concern B.1.1.7 has a transmission advantage over other lineages.

Erik Volz
Swapnil Mishra
Neil M. Ferguson
Research25 Mar 2021
Nature

Volume: 593, P: 266-269
Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission

Post-international travel quarantine has been widely implemented to mitigate SARS-CoV-2 transmission, but the impacts of such policies are unclear. Here, the authors used linked genomic and contact tracing data to assess the impacts of a 14-day quarantine on return to England in summer 2020.

Dinesh Aggarwal
Andrew J. Page
Ewan M. Harrison
ResearchOpen Access23 Feb 2022
Nature Communications

Volume: 13, P: 1-13
Genomic epidemiology of SARS-CoV-2 in a UK university identifies dynamics of transmission

In this study, Aggarwal and colleagues perform prospective sequencing of SARS-CoV-2 isolates derived from asymptomatic student screening and symptomatic testing of students and staff at the University of Cambridge. They identify important factors that contributed to within university transmission and onward spread into the wider community.

Dinesh Aggarwal
Ben Warne
Ian G. Goodfellow
ResearchOpen Access08 Feb 2022
Nature Communications

Volume: 13, P: 1-16
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Defective ribonucleotide excision repair causes ID4, an indel cancer signature characterized by deletions of 2–5 base pairs.

Martin A. M. Reijns
David A. Parry
Andrew P. Jackson
ResearchOpen Access09 Feb 2022
Nature

Volume: 602, P: 623-631
Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease

Openshaw and colleagues find myeloid inflammation and complement activation signatures in patients with long COVID who were previously hospitalized.

Felicity Liew
Claudia Efstathiou
J. Eunice Zhang
ResearchOpen Access08 Apr 2024
Nature Immunology

Volume: 25, P: 607-621
Convalescent plasma for hospitalized patients with COVID-19: an open-label, randomized controlled trial

A randomized trial in patients hospitalized with COVID-19 showed no benefit and potentially increased harm associated with the use of convalescent plasma, with subgroup analyses suggesting that the antibody profile in donor plasma is critical in determining clinical outcomes.

Philippe Bégin
Jeannie Callum
Donald M. Arnold
ResearchOpen Access09 Sept 2021
Nature Medicine

Volume: 27, P: 2012-2024
Genomic reconstruction of the SARS-CoV-2 epidemic in England

A study of the evolution of the SARS-CoV-2 virus in England between September 2020 and June 2021 finds that interventions capable of containing previous variants were insufficient to stop the more transmissible Alpha and Delta variants.

Harald S. Vöhringer
Theo Sanderson
Moritz Gerstung
ResearchOpen Access14 Oct 2021
Nature

Volume: 600, P: 506-511
The detection of the imprint of filaments on cosmic microwave background lensing

Cosmic filaments evolve nonlinearly from density fluctuations produced in the primordial Universe. Detection of cosmic microwave background lensing by filaments allows the measurement of how filaments trace the matter distribution on large scales.

Siyu He
Shadab Alam
Shirley Ho
Research09 Apr 2018
Nature Astronomy

Volume: 2, P: 401-406
Expression of RET 3′ splicing variants during human kidney development

Stacey M Ivanchuk
Shirley M Myers
Lois M Mulligan
Research05 Mar 1998
Oncogene

Volume: 16, P: 991-996
Methylation of all BRCA1 copies predicts response to the PARP inhibitor rucaparib in ovarian carcinoma

Around 10% of high-grade serous ovarian carcinomas (HGSOC) harbor BRCA1 promoter methylation, but it is uncertain how it predicts response to PARP inhibition. Here, the authors show that homozygous BRCA1 methylation predicts response to rucaparib while heterozygous methylation of BRCA1 predicts resistance in HGSOC.

Olga Kondrashova
Monique Topp
Clare L. Scott
ResearchOpen Access28 Sept 2018
Nature Communications

Volume: 9, P: 1-16
Publisher Correction: SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway

Brian J. Willett
Joe Grove
Emma C. Thomson
Amendments and CorrectionsOpen Access16 Sept 2022
Nature Microbiology

Volume: 7, P: 1709
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Erola Pairo-Castineira
Konrad Rawlik
J. Kenneth Baillie
Amendments and CorrectionsOpen Access11 Jul 2023
Nature

Volume: 619, P: E61
Refined cut-off for TP53 immunohistochemistry improves prediction of TP53 mutation status in ovarian mucinous tumors: implications for outcome analyses

Eun Young Kang
Dane Cheasley
Kylie L. Gorringe
Research28 Jul 2020
Modern Pathology

Volume: 34, P: 194-206
Reply to: Concerns about estimating relative risk of death associated with convalescent plasma for COVID-19

Philippe Bégin
Jeannie Callum
Donald M. Arnold
Research10 Jan 2022
Nature Medicine

Volume: 28, P: 53-58
Author Correction: Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Dami A. Collier
Anna De Marco
Ravindra K. Gupta
Amendments and Corrections21 Jul 2022
Nature

Volume: 608, P: E24
Author Correction: SARS-CoV-2 evolution during treatment of chronic infection

Steven A. Kemp
Dami A. Collier
Ravindra K. Gupta
Amendments and Corrections21 Jul 2022
Nature

Volume: 608, P: E23
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Author Correction: Convalescent plasma for hospitalized patients with COVID-19: an open-label, randomized controlled trial

Philippe Bégin
Jeannie Callum
Donald M. Arnold
Amendments and CorrectionsOpen Access12 Jan 2022
Nature Medicine

Volume: 28, P: 212
Genomic epidemiology of SARS-CoV-2 in a university outbreak setting and implications for public health planning

Sema Nickbakhsh
Joseph Hughes
Alison Smith-Palmer
ResearchOpen Access19 Jul 2022
Scientific Reports

Volume: 12, P: 1-17
Firefighters’ absorption of PAHs and VOCs during controlled residential fires by job assignment and fire attack tactic

Kenneth W. Fent
Christine Toennis
Gavin P. Horn
ResearchOpen Access07 Jun 2019
Journal of Exposure Science & Environmental Epidemiology

Volume: 30, P: 338-349
Phase 2 Randomised Controlled Trial and Feasibility Study of Future Care Planning in Patients with Advanced Heart Disease

Martin A. Denvir
Sarah Cudmore
Kirsty Boyd
ResearchOpen Access19 Apr 2016
Scientific Reports

Volume: 6, P: 1-9
Publisher Correction: Genomic reconstruction of the SARS CoV-2 epidemic in England

Harald S. Vöhringer
Theo Sanderson
Moritz Gerstung
Amendments and CorrectionsOpen Access07 Jun 2022
Nature

Volume: 606, P: E18
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
Small-scale mutations are infrequent as mechanisms of resistance in post-PARP inhibitor tumour samples in high grade serous ovarian cancer

Nikki L. Burdett
Madelynne O. Willis
Elizabeth L. Christie
ResearchOpen Access11 Dec 2023
Scientific Reports

Volume: 13, P: 1-10
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085

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