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Showing 1–50 of 74 results

Advanced filters: Author: S D’Alfonso Clear advanced filters

Chinese Astronomical Clockwork

JOSEPH NEEDHAM
WANG LING
DEREK J. PRICE
Research31 Mar 1956
Nature

Volume: 177, P: 600-602
New polymorphisms in the IL-10 promoter region

S D’Alfonso
M Rampi
P Momigliano-Richiardi
Research08 Feb 2000
Genes & Immunity

Volume: 1, P: 231-233
Elliptic anisotropy measurement of the f₀(980) hadron in proton-lead collisions and evidence for its quark-antiquark composition

The quark structure of the f₀(980) hadron is still unknown after 50 years of its discovery. Here, the CMS Collaboration reports a measurement of the elliptic flow of the f₀(980) state in proton-lead collisions at a nucleon-nucleon centre-of-mass energy of 8.16 TeV, providing strong evidence that the state is an ordinary meson.

A. Hayrapetyan
A. Tumasyan
A. Zhokin
ResearchOpen Access27 Aug 2025
Nature Communications

Volume: 16, P: 1-19
NcoI restriction fragment length polymorphism at — 308 of the tumor necrosis factor alpha (TNFA) promoter region in korean

Kyoung Sook Park
Min-Young Kim
Jee-Won Mok
Research01 Mar 1997
Japanese Journal of Human Genetics

Volume: 42, P: 241-247
A genome screen for multiple sclerosis in Sardinian multiplex families

Francesca Coraddu
Stephen Sawcer
Alastair Compston
Research30 Aug 2001
European Journal of Human Genetics

Volume: 9, P: 621-626
Electron ptychographic microscopy for three-dimensional imaging

Three-dimensional ptychographic imaging with electrons has remained a challenge because, unlike X-rays, electrons are easily scattered by atoms. Here, Gao et al. extend multi-slice methods to electrons in the multiple scattering regime, paving the way to nanometer-scale 3D structure determination with electrons.

Si Gao
Peng Wang
Angus I. Kirkland
ResearchOpen Access31 Jul 2017
Nature Communications

Volume: 8, P: 1-8
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology.

Wouter van Rheenen
Rick A. A. van der Spek
Jan H. Veldink
ResearchOpen Access06 Dec 2021
Nature Genetics

Volume: 53, P: 1636-1648
Atomic Resolution Defocused Electron Ptychography at Low Dose with a Fast, Direct Electron Detector

Jiamei Song
Christopher S. Allen
Angus I. Kirkland
ResearchOpen Access08 Mar 2019
Scientific Reports

Volume: 9, P: 1-8
Electron Ptychographic Diffractive Imaging of Boron Atoms in LaB₆ Crystals

Peng Wang
Fucai Zhang
Angus I. Kirkland
ResearchOpen Access06 Jun 2017
Scientific Reports

Volume: 7, P: 1-8
Measurement of the Higgs boson width and evidence of its off-shell contributions to ZZ production

The CMS Collaboration reports evidence for off-shell Higgs boson contributions in the production of Z boson pairs, and measures the width of the Higgs boson, which is inversely related to its lifetime.

A. Tumasyan
W. Adam
W. Vetens
ResearchOpen Access20 Oct 2022
Nature Physics

Volume: 18, P: 1329-1334
Observation of triple J/ψ meson production in proton-proton collisions

The CMS Collaboration reports the study of three simultaneous hard interactions between quarks and gluons in proton–proton collisions. This manifests through the concurrent production of three J/ψ mesons, which consist of a charm-quark–antiquark pair.

A. Tumasyan
W. Adam
W. Vetens
ResearchOpen Access19 Jan 2023
Nature Physics

Volume: 19, P: 338-350
A portrait of the Higgs boson by the CMS experiment ten years after the discovery

The most up-to-date combination of results on the properties of the Higgs boson is reported, which indicate that its properties are consistent with the standard model predictions, within the precision achieved to date.

A. Tumasyan
W. Adam
A. Zhokin
ResearchOpen Access04 Jul 2022
Nature

Volume: 607, P: 60-68
A genome screen for multiple sclerosis in Italian families

S Broadley
S Sawcer
A Compston
Research26 Jul 2001
Genes & Immunity

Volume: 2, P: 205-210
Transancestral mapping and genetic load in systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong ethnic and gender bias. In a transancestral genetic association study, Langefeldet al. identify 24 novel regions associated with risk to lupus and propose a cumulative hits hypothesis for loci conferring risk to SLE.

Carl D. Langefeld
Hannah C. Ainsworth
Timothy J. Vyse
ResearchOpen Access17 Jul 2017
Nature Communications

Volume: 8, P: 1-18
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms

Joint likelihood mapping across six autoimmune diseases identifies shared and distinct association signals and improves fine-mapping resolution at loci with shared effects, yielding insights into the underlying biological mechanisms.

Matthew R. Lincoln
Noah Connally
Chris Cotsapas
Research13 May 2024
Nature Genetics

Volume: 56, P: 838-845
Androgen receptor splice variant-7 in breast cancer: clinical and pathologic correlations

Donna C. Ferguson
Douglas A. Mata
Dara S. Ross
Research30 Sept 2021
Modern Pathology

Volume: 35, P: 396-402
Locus for severity implicates CNS resilience in progression of multiple sclerosis

A genome-wide association study including 22,389 cases of multiple sclerosis finds an association with disease progression at the DYSF–ZNF638 and DNM3–PIGC loci and identifies a potential of higher educational attainment in slowing disease progression.

Adil Harroud
Pernilla Stridh
Kári Stefánsson
Research28 Jun 2023
Nature

Volume: 619, P: 323-331
Digital health technologies in the accelerating medicines Partnership® Schizophrenia Program

Johanna T. W. Wigman
Ann Ee Ching
John Torous
ResearchOpen Access03 Jun 2025
Schizophrenia

Volume: 11, P: 1-10
Phenotypic changes of HER2-positive breast cancer during and after dual HER2 blockade

HER2-enriched breast cancers within the HER2-positive subtype are addicted to the HER2 pathway. Here, the authors analyse gene expression before, during, and after treatment with anti-HER2-based therapies in the phase II PAMELA clinical trial, finding phenotypic changes induced by treatment.

Fara Brasó-Maristany
Gaia Griguolo
Aleix Prat
ResearchOpen Access20 Jan 2020
Nature Communications

Volume: 11, P: 1-11
Immunohistochemical analysis of IDH2 R172 hotspot mutations in breast papillary neoplasms: applications in the diagnosis of tall cell carcinoma with reverse polarity

Fresia Pareja
Edaise M. da Silva
Edi Brogi
Research02 Jan 2020
Modern Pathology

Volume: 33, P: 1056-1064
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Relatives of patients with amyotrophic lateral sclerosis have an unexpectedly high incidence of schizophrenia. Here, the authors show a genetic link between the two conditions, suggesting shared neurobiological mechanisms.

Russell L. McLaughlin
Dick Schijven
Michael C. O’Donovan
ResearchOpen Access21 Mar 2017
Nature Communications

Volume: 8, P: 1-12
Association of interleukin-10 promoter polymorphisms with systemic lupus erythematosus

W P Chong
W K Ip
Y L Lau
Research05 Aug 2004
Genes & Immunity

Volume: 5, P: 484-492
A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

Genome-wide association studies (GWAS) have so far uncovered more than 200 loci for multiple sclerosis (MS). Here, the authors integrate data from various sources for a cell type-specific pathway analysis of MS GWAS results that specifically highlights the involvement of the immune system in disease pathogenesis.

Lohith Madireddy
Nikolaos A. Patsopoulos
Sergio E. Baranzini
ResearchOpen Access20 May 2019
Nature Communications

Volume: 10, P: 1-12
Linkage analysis in multiple sclerosis of chromosomal regions syntenic to experimental autoimmune disease loci

Chun Xu
Yamei Dai
Jan Hillert
Research02 Jul 2001
European Journal of Human Genetics

Volume: 9, P: 458-463
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Wouter van Rheenen
Rick A. A. van der Spek
Jan H. Veldink
Amendments and CorrectionsOpen Access31 Jan 2022
Nature Genetics

Volume: 54, P: 361
Cytokine gene polymorphism in human disease: on-line databases

J Bidwell
L Keen
S D’Alfonso
Reviews29 Sept 1999
Genes & Immunity

Volume: 1, P: 3-19
Observation of the rare B_s⁰ →µ⁺µ⁻ decay from the combined analysis of CMS and LHCb data

Combined analysis of proton-proton collision data from the Large Hadron Collider at CERN by the CMS and LHCb collaborations leads to the observation of the extremely rare decay of the strange B meson into muons; the result is compatible with the standard model of particle physics, and does not show any signs of new physics, such as supersymmetry.

V. Khachatryan
A.M. Sirunyan
E. Pesen
ResearchOpen Access13 May 2015
Nature

Volume: 522, P: 68-72
Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitis

A Milicic
F Lindheimer
MA Brown
Research13 Oct 2000
Genes & Immunity

Volume: 1, P: 418-422
Association of IL-6 gene alleles with systemic lupus erythematosus (SLE) and with elevated IL-6 expression

M Linker-Israeli
DJ Wallace
JR Klinenberg
Research29 Sept 1999
Genes & Immunity

Volume: 1, P: 45-52
Linkage analysis suggests a region of importance for multiple sclerosis in 3p14–13

Y Dai
C Xu
J Hillert
Research04 Dec 2001
Genes & Immunity

Volume: 2, P: 451-454
Histological grade concordance between diagnostic core biopsy and corresponding surgical specimen in HR-positive/HER2-negative breast carcinoma

C Daveau
S Baulies
F Reyal
ResearchOpen Access08 Apr 2014
British Journal of Cancer

Volume: 110, P: 2195-2200
Different allelic frequencies of several cytokine genes in Hong Kong Chinese and Swedish Caucasians

L Padyukov
M Hahn-Zoric
LÅ Hanson
Research30 Aug 2001
Genes & Immunity

Volume: 2, P: 280-283
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Ammar Al-Chalabi, Jan Veldink and colleagues perform a genome-wide association study for amyotrophic lateral sclerosis (ALS) in 15,156 cases and 26,242 controls. They identify three new genome-wide-significant variants and establish ALS as a complex trait with a polygenic architecture, but with a distinct and important role for low-frequency variants.

Wouter van Rheenen
Aleksey Shatunov
Jan H Veldink
Research25 Jul 2016
Nature Genetics

Volume: 48, P: 1043-1048
HLA-class I markers and multiple sclerosis susceptibility in the Italian population

L Bergamaschi
M A Leone
S D'Alfonso
ResearchOpen Access12 Nov 2009
Genes & Immunity

Volume: 11, P: 173-180
Follow-up investigation of 12 proposed linkage regions in multiple sclerosis

B M Herrera
M Z Cader
G C Ebers
Research01 Jun 2006
Genes & Immunity

Volume: 7, P: 366-371
Author Correction: A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

Lohith Madireddy
Nikolaos A. Patsopoulos
Sergio E. Baranzini
Amendments and CorrectionsOpen Access01 Jul 2019
Nature Communications

Volume: 10, P: 1-2
Publisher Correction: Observation of triple J/ψ meson production in proton-proton collisions

A. Tumasyan
W. Adam
W. Vetens
Amendments and CorrectionsOpen Access12 Dec 2023
Nature Physics

Volume: 20, P: 332
Author Correction: A portrait of the Higgs boson by the CMS experiment ten years after the discovery

A. Tumasyan
W. Adam
A. Zhokin
Amendments and CorrectionsOpen Access18 Oct 2023
Nature

Volume: 623, P: E4
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

The International Multiple Sclerosis Genetics Consortium reports the discovery of 48 new susceptibility variants for multiple sclerosis through targeted follow-up of immune-related loci. They also report fine mapping of association signals at established susceptibility loci and provide insights into the immune system processes underlying this disease.

Ashley H Beecham
Nikolaos A Patsopoulos
Jacob L McCauley
Research29 Sept 2013
Nature Genetics

Volume: 45, P: 1353-1360
Publisher Correction: Observation of triple J/ψ meson production in proton-proton collisions

A. Tumasyan
W. Adam
W. Vetens
Amendments and CorrectionsOpen Access27 Feb 2023
Nature Physics

Volume: 19, P: 461
Meta and pooled analysis of European coeliac disease data

Marie-Claude Babron
Staffan Nilsson
Françoise Clerget-Darpoux
Research22 Oct 2003
European Journal of Human Genetics

Volume: 11, P: 828-834
Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

Patrick Gaffney and colleagues perform a fine-mapping study of the TNFAIP3 region in systemic lupus erythematosus using individuals from diverse ancestral populations. They identify a putative causal variant in a region of high conservation and regulatory potential that is associated with reduced TNFAIP3 expression.

Indra Adrianto
Feng Wen
Patrick M Gaffney
Research20 Feb 2011
Nature Genetics

Volume: 43, P: 253-258
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
Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis

David R Booth
Robert N Heard
Jonathan Haines
Correspondence01 Jun 2010
Nature Genetics

Volume: 42, P: 469-470
Racial disparity in tumor microenvironment and distant recurrence in residual breast cancer after neoadjuvant chemotherapy

Gina Kim
Burcu Karadal-Ferrena
Maja H. Oktay
ResearchOpen Access13 Jun 2023
npj Breast Cancer

Volume: 9, P: 1-11
Cloning, expression and initial characterisation of interleukin-19 (IL-19), a novel homologue of human interleukin-10 (IL-10)

G Gallagher
H Dickensheets
SV Kotenko
Research13 Oct 2000
Genes & Immunity

Volume: 1, P: 442-450
TNF and LTA gene polymorphisms reveal different risk in gastric and duodenal ulcer patients

A Lanas
MA García-González
AS Peña
Research04 Dec 2001
Genes & Immunity

Volume: 2, P: 415-421
A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis

M Ban
J L McCauley
S Sawcer
Research24 Jun 2010
Genes & Immunity

Volume: 11, P: 660-664
Variations of the perforin gene in patients with multiple sclerosis

G Cappellano
E Orilieri
U Dianzani
Research22 May 2008
Genes & Immunity

Volume: 9, P: 438-444
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition to finding an excess of rare loss-of-function NEK1 variants in ALS cases, they report a significant association between a specific NEK1 missense variant (p.Arg261His) and disease risk.

Kevin P Kenna
Perry T C van Doormaal
John E Landers
Research25 Jul 2016
Nature Genetics

Volume: 48, P: 1037-1042

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