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Showing 101–150 of 164 results

Advanced filters: Author: Christopher Sabine Clear advanced filters

Genetic evidence of assortative mating in humans

Using whole-genome data for single-nucleotide polymorphism and results from genome-wide association studies, the authors show that people’s preference for pairing with those with similar phenotypic traits has genetic causes and consequences.

Matthew R. Robinson
Aaron Kleinman
Peter M. Visscher
Research09 Jan 2017
Nature Human Behaviour

Volume: 1, P: 1-13
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer

Rebecca J. van Kalsbeek
Melissa M. Hudson
Lisa Zwiers
Amendments and Corrections14 Nov 2023
Nature Medicine

Volume: 30, P: 603
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer

Rebecca J. van Kalsbeek
Melissa M. Hudson
Lisa Zwiers
Amendments and Corrections13 Dec 2023
Nature Medicine

Volume: 30, P: 605
Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Hanla A. Park
Sonja Neumeyer
Jenny Chang-Claude
ResearchOpen Access02 Aug 2021
British Journal of Cancer

Volume: 125, P: 1135-1145
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Maria Escala-Garcia
Sander Canisius
Marjanka K. Schmidt
ResearchOpen Access05 Oct 2021
Scientific Reports

Volume: 11, P: 1-11
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Jeanne Amiel, Bernd Wollnik, Bruno Reversade and colleagues report de novo missense mutations in SMCHD1 in patients with Bosma arhinia microphthalmia syndrome (BAMS) and isolated arhinia. Mechanistic studies support a key role for SMCHD1 in nasal development and suggest that the mutations in patients may function via a gain-of-function mechanism.

Christopher T Gordon
Shifeng Xue
Bruno Reversade
Research09 Jan 2017
Nature Genetics

Volume: 49, P: 249-255
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

Jingjing Liu
Wendy J. C. Prager - van der Smissen
Antoinette Hollestelle
ResearchOpen Access16 Jun 2020
Scientific Reports

Volume: 10, P: 1-14
Genome-wide association study of germline variants and breast cancer-specific mortality

Maria Escala-Garcia
Qi Guo
Marjanka K. Schmidt
ResearchOpen Access21 Feb 2019
British Journal of Cancer

Volume: 120, P: 647-657
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli
Massimo Bogliolo
Paolo Peterlongo
ResearchOpen Access01 Nov 2019
npj Breast Cancer

Volume: 5, P: 1-14
Transcriptional plasticity promotes primary and acquired resistance to BET inhibition

BET bromodomain inhibitors are being explored as potential therapeutics in cancer; here, AML cells are shown to evade sensitivity to BET inhibition through rewiring the transcriptional regulation of BRD4 target genes such as MYC in a process that is facilitated by suppression of PRC2 and WNT signalling activation.

Philipp Rathert
Mareike Roth
Johannes Zuber
Research14 Sept 2015
Nature

Volume: 525, P: 543-547
Contribution of hypoxia-inducible factor 1alpha to pathogenesis of sarcomeric hypertrophic cardiomyopathy

Sarala Raj Murthi
Andreas Petry
Cordula M. Wolf
ResearchOpen Access16 Jan 2025
Scientific Reports

Volume: 15, P: 1-22
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

William Dobyns, Daniela Pilz and colleagues show that de novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome, a developmental disorder characterized by distinct craniofacial features, ocular colobomata and defects in neuronal migration.

Jean-Baptiste Rivière
Bregje W M van Bon
William B Dobyns
Research26 Feb 2012
Nature Genetics

Volume: 44, P: 440-444
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Elise Robinson and colleagues present the polygenic transmission disequilibrium test (pTDT) for evaluating transmission of polygenic risk in family-based study designs. The authors apply pTDT to a cohort of autism spectrum disorder (ASD) families and find that common polygenic variation acts additively with de novo variants to contribute to ASD risk.

Daniel J Weiner
Emilie M Wigdor
Elise B Robinson
Research15 May 2017
Nature Genetics

Volume: 49, P: 978-985
Mass spectrometry as a tool to advance polymer science

High-resolution mass spectrometry has unrivalled power to analyse individual components of ensembles, rather than ensembles as a whole. This Perspective describes recent advances in the mass spectrometry of synthetic polymers, as well as the limitations of present methods and possible strategies to overcome them.

Kevin De Bruycker
Alexander Welle
Christopher Barner-Kowollik
Reviews06 Mar 2020
Nature Reviews Chemistry

Volume: 4, P: 257-268
Rare germline copy number variants (CNVs) and breast cancer risk

Dennis et al. investigate potential breast cancer associations with rare germline copy number variants (CNVs) by conducting a genome-wide analysis in a large breast cancer case-control dataset. The authors detected associations with exonic deletions in established breast cancer susceptibility genes and suggestive associations for a number of non-coding CNVs.

Joe Dennis
Jonathan P. Tyrer
Douglas F. Easton
ResearchOpen Access18 Jan 2022
Communications Biology

Volume: 5, P: 1-15
Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

Nadine Spielmann
Gregor Miller
Martin Hrabe de Angelis
Amendments and CorrectionsOpen Access20 Apr 2022
Nature Cardiovascular Research

Volume: 1, P: 529-531
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
Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women

Xiaoliang Wang
Pooja Middha Kapoor
Sara Lindström
ResearchOpen Access13 Apr 2022
Scientific Reports

Volume: 12, P: 1-12
Recurrent MET fusion genes represent a drug target in pediatric glioblastoma

Whole-genome sequencing identified recurrent fusions involving the MET oncogene, and MET inhibitors suppressed tumor growth in mouse models and in a human patient.

Sebastian Bender
Jan Gronych
David T W Jones
Research17 Oct 2016
Nature Medicine

Volume: 22, P: 1314-1320
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Stephen Sawcer
Garrett Hellenthal
Alastair Compston
Research10 Aug 2011
Nature

Volume: 476, P: 214-219
Publisher Correction: Microbial network disturbances in relapsing refractory Crohn’s disease

Bahtiyar Yilmaz
Pascal Juillerat
Andrew J. Macpherson
Amendments and Corrections07 Mar 2019
Nature Medicine

Volume: 25, P: 701
Tumor biomechanics as a novel imaging biomarker to assess response to immunotherapy in a murine glioma model

Yannik Streibel
Michael O. Breckwoldt
Katharina Schregel
ResearchOpen Access06 Jul 2024
Scientific Reports

Volume: 14, P: 1-15
At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Munib Mesinovic
Xin Ci Wong
David Zucman
ResearchOpen Access16 Jul 2024
Scientific Reports

Volume: 14, P: 1-43
A joint international consensus statement for measuring quality of survival for patients with childhood cancer

The International Childhood Cancer Outcome Project group, involving survivors and other relevant stakeholders, develop a set of core outcomes to measure the quality of care for 17 types of childhood cancers.

Rebecca J. van Kalsbeek
Melissa M. Hudson
Lisa Zwiers
Reviews15 Jun 2023
Nature Medicine

Volume: 29, P: 1340-1348
Pharmacological characterization of mutant huntingtin aggregate-directed PET imaging tracer candidates

Frank Herrmann
Manuela Hessmann
Jonathan A Bard
ResearchOpen Access09 Sept 2021
Scientific Reports

Volume: 11, P: 1-19
Clinical characterisation of women with persistent genital arousal disorder: the iPGAD-study

Franziska M. L. M. Kümpers
Christopher Sinke
Tillmann H. C. Krüger
ResearchOpen Access20 Dec 2023
Scientific Reports

Volume: 13, P: 1-16
Neural correlates of weight-shift training in older adults: a randomized controlled study

Veerle de Rond
Nicholas D’Cruz
Alice Nieuwboer
ResearchOpen Access10 Nov 2023
Scientific Reports

Volume: 13, P: 1-13
Apalutamide efficacy, safety and wellbeing in older patients with advanced prostate cancer from Phase 3 randomised clinical studies TITAN and SPARTAN

John Shen
Simon Chowdhury
Julie N. Graff
ResearchOpen Access11 Nov 2023
British Journal of Cancer

Volume: 130, P: 73-81
Initial results from the InSight mission on Mars

Geophysical and meteorological measurements by NASA’s InSight lander on Mars reveal a planet that is seismically active and provide information about the interior, surface and atmospheric workings of Mars.

W. Bruce Banerdt
Suzanne E. Smrekar
Mark Wieczorek
Reviews24 Feb 2020
Nature Geoscience

Volume: 13, P: 183-189
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Nichola Johnson
Sarah Maguire
Olivia Fletcher
ResearchOpen Access26 Jan 2021
British Journal of Cancer

Volume: 124, P: 842-854
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Naomi Wray and colleagues report an analysis of genome-wide association data sets from the Psychiatric Genomics Consortium for five psychiatric disorders. They find that common variation explains 17–29% of the variance in liability and provide further support for a shared genetic etiology for these related psychiatric disorders.

S Hong Lee
Stephan Ripke
Naomi R Wray
Research11 Aug 2013
Nature Genetics

Volume: 45, P: 984-994
Age-associated defect in ADCC response to COVID-19 vaccine

Benjamin L. Sievers
Mazharul Altaf
Ravindra K. Gupta
ResearchOpen Access01 Jul 2025
npj Vaccines

Volume: 10, P: 1-9
Calibration of a serum reference standard for Group B streptococcal polysaccharide conjugate vaccine development using surface plasmon resonance

Alexandre Esadze
Christopher D. Grube
Raphael Simon
ResearchOpen Access19 May 2023
npj Vaccines

Volume: 8, P: 1-10
Diffraction data of core-shell nanoparticles from an X-ray free electron laser

Xuanxuan Li
Chun-Ya Chiu
Haiguang Liu
ResearchOpen Access11 Apr 2017
Scientific Data

Volume: 4, P: 1-8
rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

Jingjing Liu
Ivona Lončar
Antoinette Hollestelle
ResearchOpen Access15 Nov 2016
Scientific Reports

Volume: 6, P: 1-13
Author Correction: Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models

Rosa Lundbye Allesøe
Agnete Troen Lundgaard
Moustafa Abdalla
Amendments and CorrectionsOpen Access02 May 2023
Nature Biotechnology

Volume: 41, P: 1026
Cooperative allostery and structural dynamics of streptavidin at cryogenic- and ambient-temperature

Ayan et al. report two structures of the protein streptavidin - one at ambient temperature determined using serial femtosecond crystallography and a second one determined at cryogenic temperature. These results provide insights into the structural dynamics of apo streptavidin and reveal a cooperative allostery between monomers for binding to biotin, and the findings are supported by GNM analysis.

Esra Ayan
Busra Yuksel
Hasan DeMirci
ResearchOpen Access20 Jan 2022
Communications Biology

Volume: 5, P: 1-13
Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Eva Gonçalves Serra
Tobias Schwerd
Carl A. Anderson
Amendments and CorrectionsOpen Access22 Jun 2022
Nature Communications

Volume: 13, P: 1
Design and implementation of an illumination system to mimic skyglow at ecosystem level in a large-scale lake enclosure facility

Andreas Jechow
Günther Schreck
Franz Hölker
ResearchOpen Access06 Dec 2021
Scientific Reports

Volume: 11, P: 1-11
Unravelling the intricate cooperativity of subunit gating in P2X2 ion channels

Christian Sattler
Thomas Eick
Klaus Benndorf
ResearchOpen Access10 Dec 2020
Scientific Reports

Volume: 10, P: 1-13
A user-friendly tool for cloud-based whole slide image segmentation with examples from renal histopathology

Lutnick et al. develop a cloud-based deep learning tool for whole slide image segmentation. The authors provide several examples of its application in renal pathology, for segmenting glomeruli, interstitial fibrosis and other features of interest.

Brendon Lutnick
David Manthey
Angela Victoria-Castro
ResearchOpen Access19 Aug 2022
Communications Medicine

Volume: 2, P: 1-15
SRSF3 maintains transcriptome integrity in oocytes by regulation of alternative splicing and transposable elements

Dang Vinh Do
Bernhard Strauss
M. Azim Surani
ResearchOpen Access19 Jun 2018
Cell Discovery

Volume: 4, P: 1-16
3D cephalometric analysis using Magnetic Resonance Imaging: validation of accuracy and reproducibility

Alexander Juerchott
Muhammad Abdullah Saleem
Sabine Heiland
ResearchOpen Access29 Aug 2018
Scientific Reports

Volume: 8, P: 1-11
Intrarenal Renin-Angiotensin-System Dysregulation after Kidney Transplantation

Johannes J. Kovarik
Christopher C. Kaltenecker
Marcus D. Säemann
ResearchOpen Access05 Jul 2019
Scientific Reports

Volume: 9, P: 1-11
36-month durability of ultrasound renal denervation for hypertension resistant to combination therapy in RADIANCE-HTN TRIO

Michael J. Bloch
Ajay J. Kirtane
Patric Kröpil
ResearchOpen Access27 Sept 2024
Hypertension Research

Volume: 47, P: 3467-3472
Application of carbohydrate arrays coupled with mass spectrometry to detect activity of plant-polysaccharide degradative enzymes from the fungus Aspergillus niger

Jolanda M. van Munster
Baptiste Thomas
Sabine L. Flitsch
ResearchOpen Access21 Feb 2017
Scientific Reports

Volume: 7, P: 1-13
Absence of PD-L1 on tumor cells is associated with reduced MHC I expression and PD-L1 expression increases in recurrent serous ovarian cancer

Stefanie Aust
Sophie Felix
Dietmar Pils
ResearchOpen Access07 Mar 2017
Scientific Reports

Volume: 7, P: 1-12
A blood-based biomarker panel indicates IL-10 and IL-12/23p40 are jointly associated as predictors of β-amyloid load in an AD cohort

Steve Pedrini
Veer B. Gupta
Philip Thomas
ResearchOpen Access25 Oct 2017
Scientific Reports

Volume: 7, P: 1-12
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

Hatef Darabi
Jonathan Beesley
Alison M. Dunning
ResearchOpen Access07 Sept 2016
Scientific Reports

Volume: 6, P: 1-14
Correction: Corrigendum: Diffraction data of core-shell nanoparticles from an X-ray free electron laser

Xuanxuan Li
Chun-Ya Chiu
Haiguang Liu
Amendments and CorrectionsOpen Access24 Oct 2017
Scientific Data

Volume: 4, P: 1

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