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Showing 101–150 of 209 results

Advanced filters: Author: D G Jayne Clear advanced filters

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Roland Kuiper and colleagues identify a homozygous germline nonsense mutation in the base-excision repair gene NTHL1 in three families with recessive inheritance of adenomatous polyposis.

Robbert D A Weren
Marjolijn J L Ligtenberg
Nicoline Hoogerbrugge
Research04 May 2015
Nature Genetics

Volume: 47, P: 668-671
Reply to: Shark mortality cannot be assessed by fishery overlap alone

Nuno Queiroz
Nicolas E. Humphries
David W. Sims
Research07 Jul 2021
Nature

Volume: 595, P: E8-E16
Humans thrived in South Africa through the Toba eruption about 74,000 years ago

Youngest Toba Tuff glass shards found together with evidence of human occupation at two archaeological sites from the southern coast of South Africa indicate that early modern humans thrived in this region despite the eruption of the Toba supervolcano about 74,000 years ago.

Eugene I. Smith
Zenobia Jacobs
Curtis W. Marean
Research12 Mar 2018
Nature

Volume: 555, P: 511-515
Author Correction: Environmental variability supports chimpanzee behavioural diversity

Ammie K. Kalan
Lars Kulik
Hjalmar S. Kühl
Amendments and CorrectionsOpen Access25 Jan 2021
Nature Communications

Volume: 12, P: 1
RENEB interlaboratory comparison for biological dosimetry based on dicentric chromosome analysis and cobalt-60 exposures higher than 2.5 Gy

Martin Bucher
David Endesfelder
Ursula Oestreicher
ResearchOpen Access14 Feb 2025
Scientific Reports

Volume: 15, P: 1-10
Author Correction: Drivers of seedling establishment success in dryland restoration efforts

Nancy Shackelford
Gustavo B. Paterno
Katharine L. Suding
Amendments and Corrections28 Jul 2021
Nature Ecology & Evolution

Volume: 5, P: 1319
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia

Richard Houlston and colleagues report results of a genome-wide association study of chronic lymphocytic leukemia. They validate several new susceptibility loci for this disease, including variants near POT1, TERC and TERT.

Helen E Speedy
Maria Chiara Di Bernardo
Richard S Houlston
Research01 Dec 2013
Nature Genetics

Volume: 46, P: 56-60
Colorimetric and electrochemical analysis of DNAzyme-LAMP amplicons for the detection of Escherichia coli in food matrices

Alaa H. Sewid
Haley C. Dylewski
Shigetoshi Eda
ResearchOpen Access22 Nov 2024
Scientific Reports

Volume: 14, P: 1-15
A global assessment of actors and their roles in climate change adaptation

For global adaptation effort, it is essential to understand which actors are participating and what their roles are. This Analysis, based on comparative case studies, displays the dominant actors in adaptation, and how the actor–role patterns vary across regions.

Jan Petzold
Tom Hawxwell
Matthias Garschagen
ResearchOpen Access12 Oct 2023
Nature Climate Change

Volume: 13, P: 1250-1257
High-throughput gene expression analysis with TempO-LINC sensitively resolves complex brain, lung and kidney heterogeneity at single-cell resolution

Dennis J. Eastburn
Kevin S. White
Bruce Seligmann
ResearchOpen Access28 Dec 2024
Scientific Reports

Volume: 14, P: 1-15
Correction: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje WM van Bon
David A Koolen
Bert BA de Vries
Amendments and Corrections14 Jan 2010
European Journal of Human Genetics

Volume: 18, P: 170
Golgi-localized Ring Finger Protein 121 is necessary for MYCN-driven neuroblastoma tumorigenesis

A chemical mutagenesis screen identifies RNF121 as an oncogenic cofactor for MYCN in neuroblastoma.

Belamy B. Cheung
Ritu Mittra
Glenn M. Marshall
ResearchOpen Access14 Oct 2024
Communications Biology

Volume: 7, P: 1-13
Dryland mechanisms could widely control ecosystem functioning in a drier and warmer world

In drylands, there are unique mechanisms that influence multiple ecosystem processes. In this Perspective, the authors identify these dryland mechanisms and show that they could become more important in non-dryland regions or areas that will become drier in the future.

José M. Grünzweig
Hans J. De Boeck
Dan Yakir
Reviews25 Jul 2022
Nature Ecology & Evolution

Volume: 6, P: 1064-1076
1804 FETAL BREATHING MOVEMENTS TRANSIENTLY INCREASE LUNG FLUID VOLUMES IN SHEEP

Daniel T Murai
Linda D Wallen
Joseph A Kitterman
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 411
Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

New methods and larger sample groups are used to precisely determine the alleles in the HLA complex which contribute susceptibility to type 1 diabetes.

Sergey Nejentsev
Joanna M. M. Howson
Jane Worthington
Research14 Nov 2007
Nature

Volume: 450, P: 887-892
Favorable prognostic significance of high-level retinoic acid receptor β expression in neuroblastoma mediated by effects on cell cycle regulation

Belamy Cheung
Jayne E Hocker
Glenn M Marshall
Research14 Aug 1998
Oncogene

Volume: 17, P: 751-759
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Ida E Sønderby
Ómar Gústafsson
Ole A. Andreassen
ResearchOpen Access03 Oct 2018
Molecular Psychiatry

Volume: 25, P: 584-602
Ultrasound and x-ray imageable poloxamer-based hydrogel for loco-regional therapy delivery in the liver

Jose F. Delgado
Joshua W. Owen
Bradford J. Wood
ResearchOpen Access03 Sept 2024
Scientific Reports

Volume: 14, P: 1-22
Impact of peritoneal carcinomatosis in the disease history of colorectal cancer management: a longitudinal experience of 2406 patients over two decades

A G Kerscher
T C Chua
J O W Pelz
ResearchOpen Access19 Mar 2013
British Journal of Cancer

Volume: 108, P: 1432-1439
Vulnerability of cocoa-based agroforestry systems to climate change in West Africa

Antonio Jesús Ariza-Salamanca
Rafael M. Navarro-Cerrillo
Pablo González-Moreno
ResearchOpen Access20 Jun 2023
Scientific Reports

Volume: 13, P: 1-12
Recent genetic connectivity and clinal variation in chimpanzees

Lester and colleagues use faecal samples and genetic analyses to investigate the genetic connectivity across chimpanzees. Their results indicate that the global pattern of genetic diversity in chimpanzees is largely characterized by a pattern of isolation by distance with several isolated populations exhibiting strong local differentiation.

Jack D. Lester
Linda Vigilant
Mimi Arandjelovic
ResearchOpen Access05 Mar 2021
Communications Biology

Volume: 4, P: 1-11
X-ray imageable, drug-loaded hydrogel that forms at body temperature for image-guided, needle-based locoregional drug delivery

Jose F. Delgado
William F. Pritchard
Bradford J. Wood
ResearchOpen Access10 Jun 2024
Scientific Reports

Volume: 14, P: 1-20
Microfluidic-assisted preparation of RGD-decorated nanoparticles: exploring integrin-facilitated uptake in cancer cell lines

Julio M. Rios De La Rosa
Alice Spadea
Nicola Tirelli
ResearchOpen Access02 Sept 2020
Scientific Reports

Volume: 10, P: 1-15
The effects of 10,000 voluntary contractions over 8 weeks on the strength of very weak muscles in people with spinal cord injury: a randomised controlled trial

Lydia W. Chen
Joanne V. Glinsky
Lisa A. Harvey
ResearchOpen Access21 Feb 2020
Spinal Cord

Volume: 58, P: 857-864
Thrombophilia as a cause for central and branch retinal artery occlusion in patients without an apparent embolic source

Ophira Salomon
Ruth Huna-Baron
Uri Seligsohn
Research01 Jul 2001
Eye

Volume: 15, P: 511-514
Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study

Paul R Newby
Oliver J Pickles
Stephen C L Gough
Research05 May 2010
European Journal of Human Genetics

Volume: 18, P: 1021-1026
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Maria Iqbal
Reza Maroofian
Gökhan Yigit
ResearchOpen Access09 Jul 2021
Genetics in Medicine

Volume: 23, P: 2138-2149
Explainable AI reveals changes in skin microbiome composition linked to phenotypic differences

Anna Paola Carrieri
Niina Haiminen
Edward O. Pyzer-Knapp
ResearchOpen Access25 Feb 2021
Scientific Reports

Volume: 11, P: 1-18
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

Thomas W. Laver
Matthew N. Wakeling
Sarah E. Flanagan
ResearchOpen Access11 Apr 2024
European Journal of Human Genetics

Volume: 32, P: 813-818
Haematopoietic SCT in severe autoimmune diseases: updated guidelines of the European Group for Blood and Marrow Transplantation

J A Snowden
R Saccardi
D Farge
Special FeaturesOpen Access17 Oct 2011
Bone Marrow Transplantation

Volume: 47, P: 770-790
Dichloroacetate induces apoptosis and cell-cycle arrest in colorectal cancer cells

B M Madhok
S Yeluri
D G Jayne
ResearchOpen Access18 May 2010
British Journal of Cancer

Volume: 102, P: 1746-1752
Controlled trial of twelve versus six courses of chemotherapy in the treatment of small-cell lung cancer

Research01 Apr 1989
British Journal of Cancer

Volume: 59, P: 584-590
ANCA-associated vasculitis

The anti-neutrophil cytoplasmic antibody-associated vasculitides (AAVs) are autoimmune disorders characterized by inflammation and destruction of small blood vessels. In this Primer, the authors discuss the classification of AAVs and the pathogenetic mechanisms, diagnosis and treatment of these debilitating conditions.

A. Richard Kitching
Hans-Joachim Anders
Renate Kain
Reviews27 Aug 2020
Nature Reviews Disease Primers

Volume: 6, P: 1-27
Targeting metabolic activity in high-risk neuroblastoma through Monocarboxylate Transporter 1 (MCT1) inhibition

Aaminah Khan
Emanuele Valli
Denise M. T. Yu
Research02 Mar 2020
Oncogene

Volume: 39, P: 3555-3570
Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’

Patrick Deelen
Androniki Menelaou
Morris A Swertz
ResearchOpen Access04 Jun 2014
European Journal of Human Genetics

Volume: 22, P: 1321-1326
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Ida E. Sønderby
Dennis van der Meer
Marianne B. M. van den Bree
ResearchOpen Access22 Mar 2021
Translational Psychiatry

Volume: 11, P: 1-16
Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology

Molly Went
Amit Sud
Richard S. Houlston
ResearchOpen Access21 Dec 2018
Blood Cancer Journal

Volume: 9, P: 1-9
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A Koolen
Rolph Pfundt
Bert BA de Vries
Research26 Aug 2015
European Journal of Human Genetics

Volume: 24, P: 652-659
A framework for the detection of de novo mutations in family-based sequencing data

Laurent C Francioli
Mircea Cretu-Stancu
Paul IW de Bakker
ResearchOpen Access23 Nov 2016
European Journal of Human Genetics

Volume: 25, P: 227-233
Africa-wide evaluation of host biomarkers in QuantiFERON supernatants for the diagnosis of pulmonary tuberculosis

Novel N. Chegou
Jayne S. Sutherland
Scholastica Iipinge
ResearchOpen Access08 Feb 2018
Scientific Reports

Volume: 8, P: 1-12
Chimpanzee accumulative stone throwing

Hjalmar S. Kühl
Ammie K. Kalan
Christophe Boesch
ResearchOpen Access29 Feb 2016
Scientific Reports

Volume: 6, P: 1-8
Drivers and barriers to patient participation in RCTs

V Jenkins
V Farewell
L Fallowfield
ResearchOpen Access19 Mar 2013
British Journal of Cancer

Volume: 108, P: 1402-1407
Apolipoprotein L1 (APOL1) renal risk variant-mediated podocyte cytotoxicity depends on African haplotype and surface expression

Nidhi Gupta
Bridget Waas
Suzie J. Scales
ResearchOpen Access14 Feb 2024
Scientific Reports

Volume: 14, P: 1-16
HHV-8-unrelated primary effusion-like lymphoma associated with clonal loss of inherited chromosomally-integrated human herpesvirus-6A from the telomere of chromosome 19q

Enjie Zhang
Victoria E. Cotton
Nicola J. Royle
ResearchOpen Access07 Mar 2016
Scientific Reports

Volume: 6, P: 1-9
The influence of invasive growth pattern and microvessel density on prognosis in colorectal cancer and colorectal liver metastases

R Rajaganeshan
R Prasad
D G Jayne
ResearchOpen Access13 Mar 2007
British Journal of Cancer

Volume: 96, P: 1112-1117
Validation of a combined ultrasound and bioluminescence imaging system with magnetic resonance imaging in orthotopic pancreatic murine tumors

Juan D. Rojas
Jordan B. Joiner
Tomasz J. Czernuszewicz
ResearchOpen Access07 Jan 2022
Scientific Reports

Volume: 12, P: 1-9
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje WM van Bon
David A Koolen
Bert BA de Vries
Research07 Oct 2009
European Journal of Human Genetics

Volume: 18, P: 163-170
Universal response in the RKO colon cancer cell line to distinct antimitotic therapies

Alexander Lorz
Dana-Adriana Botesteanu
Doron Levy
ResearchOpen Access12 Jun 2018
Scientific Reports

Volume: 8, P: 1-11
Effective climate change adaptation means supporting community autonomy

Communities want to determine their own climate change adaptation strategies, and scientists and decision-makers should listen to them — both the equity and efficacy of climate change adaptation depend on it. We outline key lessons researchers and development actors can take to support communities and learn from them.

Anne C. Pisor
Xavier Basurto
James Holland Jones
Comments & Opinion28 Feb 2022
Nature Climate Change

Volume: 12, P: 213-215
Convolutional neural network-based classification of glaucoma using optic radiation tissue properties

Kruper et al. investigate the impact of glaucoma on brain tissue by comparing MRI data from 856 people with glaucoma to matched controls without glaucoma. They find that neural networks using tissue properties from visual brain connections more accurately detect glaucoma than those trained on non-visual brain connections.

John Kruper
Adam Richie-Halford
Yalin Zheng
ResearchOpen Access11 Apr 2024
Communications Medicine

Volume: 4, P: 1-10

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