Nature Search

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
Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

JAK1 mediates intracellular signalling from multiple cytokine receptors. Here, Elettoet al. identify JAK1 mutations that disrupt multiple signalling pathways and are associated with primary immunodeficiency, atypical mycobacterial infection susceptibility and early-onset metastatic bladder carcinoma.

Davide Eletto
Siobhan O. Burns
Sergey Nejentsev
ResearchOpen Access23 Dec 2016
Nature Communications

Volume: 7, P: 1-12
Direct correction of haemoglobin E β-thalassaemia using base editors

The authors demonstrate efficient and direct correction of the DNA mutation causing Haemoglobin E β-thalassaemia with CRISPR Cas9 base editors. The work includes profiling of off-target effects using deep neural networks.

Mohsin Badat
Ayesha Ejaz
James O. J. Davies
ResearchOpen Access19 Apr 2023
Nature Communications

Volume: 14, P: 1-7
Silver diamine fluoride - an overview of the literature and current clinical techniques

Joseph Greenwall-Cohen
Linda Greenwall
Siobhan Barry
Research12 Jun 2020
British Dental Journal

Volume: 228, P: 831-838
Deletion of Wiskott–Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells

Wiskott–Aldrich syndrome (WAS) is a severe X-linked primary immunodeficiency syndrome. Here, the authors show that loss of WAS gene in dendritic cells results in increased activity of Rac2, increase of phagosomal pH, and more efficient cross-presentation.

Marisa A. P. Baptista
Marton Keszei
Lisa S. Westerberg
ResearchOpen Access18 Jul 2016
Nature Communications

Volume: 7, P: 1-15
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
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
Proteomic approach to identify host cell attachment proteins provides protective Pseudomonas aeruginosa vaccine antigen FtsZ

Irene Jurado-Martín
Julen Tomás-Cortázar
Siobhán McClean
ResearchOpen Access28 Oct 2024
npj Vaccines

Volume: 9, P: 1-17
Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells

Wiskott-Aldrich syndrome protein (WASp) is essential for controlling the cytoskeleton, but its function in innate immunity is unclear. Here the authors show that WASp deficiency is associated with dysregulated septin cage formation, excessive inflammasome activation, elevated immune cell death and reduced bacterial clearance.

Pamela P. Lee
Damián Lobato-Márquez
Adrian J. Thrasher
ResearchOpen Access17 Nov 2017
Nature Communications

Volume: 8, P: 1-13
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
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
Magee Equations™ and response to neoadjuvant chemotherapy in ER+/HER2-negative breast cancer: a multi-institutional study

Rohit Bhargava
Nicole N. Esposito
David J. Dabbs
Research13 Jul 2020
Modern Pathology

Volume: 34, P: 77-84
WASP: a key immunological multitasker

As a key regulator of the actin cytoskeleton, Wiskott–Aldrich syndrome protein (WASP) is involved in diverse immune responses, including leukocyte migration and activation. This Review describes how various mutations in mice and humans have led us to a greater appreciation of the many immunological functions of WASP.

Adrian J. Thrasher
Siobhan O. Burns
Reviews01 Mar 2010
Nature Reviews Immunology

Volume: 10, P: 182-192
The impact of the COVID-19 pandemic upon pancreatic cancer treatment (CONTACT Study): a UK national observational cohort study

Lewis A. Hall
Siobhan C. McKay
Melissa Zhao
ResearchOpen Access23 Mar 2023
British Journal of Cancer

Volume: 128, P: 1922-1932
Correction: Anti-Müllerian hormone and Inhibin B after stem cell transplant in childhood: a comparison of myeloablative, reduced intensity and treosulfan-based chemotherapy regimens

Alison Leiper
Maite Houwing
Stephen Nussey
Amendments and Corrections24 Apr 2020
Bone Marrow Transplantation

Volume: 56, P: 521
Humoral immune responses to COVID-19 vaccination in people living with HIV receiving suppressive antiretroviral therapy

Zabrina L. Brumme
Francis Mwimanzi
Mark A. Brockman
ResearchOpen Access28 Feb 2022
npj Vaccines

Volume: 7, P: 1-12
Anti-Müllerian hormone and Inhibin B after stem cell transplant in childhood: a comparison of myeloablative, reduced intensity and treosulfan-based chemotherapy regimens

Alison Leiper
Maite Houwing
Stephen Nussey
Research30 Mar 2020
Bone Marrow Transplantation

Volume: 55, P: 1985-1995
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
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
Lentiviral gene therapy rescues p47^phox chronic granulomatous disease and the ability to fight Salmonella infection in mice

Andrea Schejtman
Walmir Cutrim Aragão-Filho
Giorgia Santilli
ResearchOpen Access12 Jun 2020
Gene Therapy

Volume: 27, P: 459-469
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

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Direct correction of haemoglobin E β-thalassaemia using base editors

Silver diamine fluoride - an overview of the literature and current clinical techniques

Deletion of Wiskott–Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells

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

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

Proteomic approach to identify host cell attachment proteins provides protective Pseudomonas aeruginosa vaccine antigen FtsZ

Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells

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

Genomic reconstruction of the SARS-CoV-2 epidemic in England

Magee Equations™ and response to neoadjuvant chemotherapy in ER+/HER2-negative breast cancer: a multi-institutional study

WASP: a key immunological multitasker

The impact of the COVID-19 pandemic upon pancreatic cancer treatment (CONTACT Study): a UK national observational cohort study

Correction: Anti-Müllerian hormone and Inhibin B after stem cell transplant in childhood: a comparison of myeloablative, reduced intensity and treosulfan-based chemotherapy regimens

Humoral immune responses to COVID-19 vaccination in people living with HIV receiving suppressive antiretroviral therapy

Anti-Müllerian hormone and Inhibin B after stem cell transplant in childhood: a comparison of myeloablative, reduced intensity and treosulfan-based chemotherapy regimens

Publisher Correction: Genomic reconstruction of the SARS CoV-2 epidemic in England

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

Lentiviral gene therapy rescues p47^phox chronic granulomatous disease and the ability to fight Salmonella infection in mice

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

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