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Showing 101–150 of 198 results

Advanced filters: Author: Jeffrey R. Arnold Clear advanced filters

Hundreds of variants clustered in genomic loci and biological pathways affect human height

This very large genome-wide association study identifies hundreds of new genetic variants influencing adult height in at least 180 loci enriched for genes involved in skeletal growth defects. The results show that the likely causal gene is often located near the most strongly associated variant, that many loci have multiple independently associated variants and that associated variants are enriched for likely functional effects on genes.

Hana Lango Allen
Karol Estrada
Joel N. Hirschhorn
Research29 Sept 2010
Nature

Volume: 467, P: 832-838
Twisted gastrulation is a conserved extracellular BMP antagonist

Jeffrey J. Ross
Osamu Shimmi
J. Lawrence Marsh
Research22 Mar 2001
Nature

Volume: 410, P: 479-483
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
Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Iris M Heid
Anne U Jackson
Cecilia M Lindgren
Amendments and Corrections27 Oct 2011
Nature Genetics

Volume: 43, P: 1164
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Vivianna Van Deerlin and colleagues report that common variants at 7p21 are associated with a subtype of frontotemporal lobar degeneration marked by TDP-43 inclusions. They further show that the risk alleles are associated with elevated brain expression of TMEM106B, which resides at the peak of association on 7p21.

Vivianna M Van Deerlin
Patrick M A Sleiman
Virginia M-Y Lee
Research14 Feb 2010
Nature Genetics

Volume: 42, P: 234-239
GROUP B STREP (GBS) COLONIZATION ASSOCIATED WITH IN TRAUTERINE PRESSURE TRANSDUCERS(IPT)

Jeffrey P Davis
Laura T Gutman
Selman I Welt
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 498
Establishment of salivary tissue-organoid biorepository: characterizing salivary gland stem/progenitor cells and novel differentiation marker PSMA/FOLH1

Syed Mohammed Musheer Aalam
Ana Rita Varela
Nagarajan Kannan
ResearchOpen Access21 May 2025
npj Regenerative Medicine

Volume: 10, P: 1-19
Outcrossing rates of individual Mimulus ringens genets are correlated with anther–stigma separation

Jeffrey D Karron
Rosella T Jackson
Stephanie L Schlicht
Research01 Oct 1997
Heredity

Volume: 79, P: 365-370
Wnt and TGFβ coordinate growth and patterning to regulate size-dependent behaviour

A planarian fission protocol shows that the number of progeny and the frequency of fission initiation correlate with parent size, and TGFβ and Wnt signalling components are identified as regulators of fission behaviour.

Christopher P. Arnold
Blair W. Benham-Pyle
Alejandro Sánchez Alvarado
Research15 Aug 2019
Nature

Volume: 572, P: 655-659
The influence of population density on outcrossing rates in Mimulus ringens

Jeffrey D Karron
Nina N Thumser
Amy J Hessenauer
Research01 Aug 1995
Heredity

Volume: 75, P: 175-180
99 VISITING BY SIBLINGS IN A NEONATAL INTENSIVE CARE UNIT (NICU)

Brenda A Tolbert
Frederick J Schwab
M Jeffrey Maisels
Research01 Apr 1981
Pediatric Research

Volume: 15, P: 456
Metabolite-driven mechanisms reveal chemical ecology of Lehmann Lovegrass (Eragrostis lehmanniana) invasion in North American semi-arid ecosystems

Multi-platform metabolomics reveals an invasive plant is dominant in an arid ecosystem via nitrogen allocation, higher metabolic plasticity, and reduced root defenses.

Ben Yang
Mekayla Crawford
Malak M. Tfaily
ResearchOpen Access04 Mar 2025
Communications Biology

Volume: 8, P: 1-16
995 VIRAL ASSOCIATIONS OF THE TOXIC-SHOCK SYNDROME (TSS)

P Joan Chesney
Jeffrey P Davis
Russell W Chesney
Research01 Apr 1981
Pediatric Research

Volume: 15, P: 608
T-cell killing of heterogenous tumor or viral targets with bispecific chimeric immune receptors

Salil D Patel
Marina Moskalenko
James G McArthur
Research13 Sept 2000
Cancer Gene Therapy

Volume: 7, P: 1127-1134
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Brian W. Kunkle
Benjamin Grenier-Boley
Margaret A. Pericak-Vance
Amendments and Corrections15 Aug 2019
Nature Genetics

Volume: 51, P: 1423-1424
Relationships of PGRN with sTREM2 in AD continuum and non-AD pathophysiology and their reciprocal roles in modulating amyloid pathology: two population-based study

Liang-Yu Huang
Chen-Chen Tan
Dariella Fernandez
ResearchOpen Access08 Jul 2025
Translational Psychiatry

Volume: 15, P: 1-11
Rethinking amide bond synthesis

Recent advances in amide-bond-forming reactions are reviewed and summarized, highlighting the successful implementation of new synthetic methodologies and the limitations that need to be overcome to efficiently make the next generation of conventional small-molecule pharmaceuticals, therapeutic peptides, and natural and non-natural proteins.

Vijaya R. Pattabiraman
Jeffrey W. Bode
Reviews21 Dec 2011
Nature

Volume: 480, P: 471-479
Targeted RNA sequencing reveals the deep complexity of the human transcriptome

Rare transcripts remain enigmatic in part because they are difficult to detect robustly on a large scale. Mercer et al. show that targeted RNA sequencing after array capture can reach saturating depth at the targeted loci and reveal unprecedented levels of rare noncoding transcripts and previously unrecognized spliced variants from important loci such as p53 and HOX.

Tim R Mercer
Daniel J Gerhardt
John L Rinn
Research13 Nov 2011
Nature Biotechnology

Volume: 30, P: 99-104
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

This study presents a framework to evaluate rare and de novo variation from whole-genome sequencing (WGS). The work suggests that robust results from WGS studies will require large cohorts and strategies that consider the substantial multiple-testing burden.

Donna M. Werling
Harrison Brand
Stephan J. Sanders
Research26 Apr 2018
Nature Genetics

Volume: 50, P: 727-736
Updated favourable-histology Wilms tumour risk stratification: rationale for future Children’s Oncology Group clinical trials

In this Consensus Statement, the authors describe the details of the evolution of the risk-based treatment of favourable-histology Wilms tumour (FHWT) and outline the rationale for the new risk stratification that will be used in the now open Children’s Oncology Group therapeutic trial for FHWT, AREN2231.

Daniel J. Benedetti
Nicholas G. Cost
Elizabeth A. Mullen
Reviews20 Jun 2025
Nature Reviews Urology

Volume: 22, P: 775-788
Academia Europaea’s guidelines for the visualization of clinical outcomes

A working group of Academia Europaea proposes the addition of a ‘ring diagram’ in clinical publications for the quick evaluation of translational implications.

Peter Hegyi
Andras Garami
Katalin Solymosi
Comments & Opinion14 Oct 2025
Nature Medicine

Volume: 31, P: 3976-3980
Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids

Amy R. Bentley
Michael R. Brown
Ervin R. Fox
ResearchOpen Access20 Jun 2025
Translational Psychiatry

Volume: 15, P: 1-12
Allogenic Bone Marrow Transplantation in Severe Gaucher Disease

Philip Tsai
Jeffrey M Lipton
Gregory A Grabowskl
Research01 May 1992
Pediatric Research

Volume: 31, P: 503-507
A blood and bronchoalveolar lavage protein signature of rapid FEV₁ decline in smoking-associated COPD

Katarina M. DiLillo
Katy C. Norman
Kelly B. Arnold
ResearchOpen Access22 May 2023
Scientific Reports

Volume: 13, P: 1-14
Estimation of groundwater storage loss using surface–subsurface hydrologic modeling in an irrigated agricultural region

Salam A. Abbas
Ryan T. Bailey
Michael J. White
ResearchOpen Access11 Mar 2025
Scientific Reports

Volume: 15, P: 1-24
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: Spread of pathological tau proteins through communicating neurons in human Alzheimer’s disease

Jacob W. Vogel
Yasser Iturria-Medina
Per Wollmer
Amendments and CorrectionsOpen Access05 Aug 2021
Nature Communications

Volume: 12, P: 1
Author Correction: FAM222A encodes a protein which accumulates in plaques in Alzheimer’s disease

Tingxiang Yan
Jingjing Liang
Xinglong Wang
Amendments and CorrectionsOpen Access11 Jul 2022
Nature Communications

Volume: 13, P: 1-2
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population

Fergus Couch and colleagues report a genome-wide association study for modifiers of breast cancer susceptibility in BRCA1 mutation carriers. They identify a locus at 19p13 associated with breast cancer risk in BRCA1 mutation carriers, and further replication studies identify this locus as associated with estrogen receptor–negative breast cancer in the general population.

Antonis C Antoniou
Xianshu Wang
Fergus J Couch
Research19 Sept 2010
Nature Genetics

Volume: 42, P: 885-892
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Ankita Patel and colleagues report microdeletions and microduplications on chromosome 1q21.1 in a series of individuals with features of microcephaly and macrocephaly, as well as developmental delay and neuropsychiatric abnormalities.

Nicola Brunetti-Pierri
Jonathan S Berg
Ankita Patel
Research23 Nov 2008
Nature Genetics

Volume: 40, P: 1466-1471
761 PRIMARY HUMAN MONOCYTE CULTURE FOR DIAGNOSIS OF ROCKY MT. SPOTTED FEVER (RMSF)

Jeffrey P Davis
Willie Burgdorfer
Catherine M Wilfert
Research01 Apr 1978
Pediatric Research

Volume: 12, P: 490
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
EVALUATION OF HEMOGLOBIN SATURATION DURING SLEEP IN CHILDREN WITH SICKLE CELL DISEASE

Beatrice A Files
Beatrice C Lampkin
Timothy D Guilfoile
Research01 Apr 1987
Pediatric Research

Volume: 21, P: 298
Identifying healthy individuals with Alzheimer’s disease neuroimaging phenotypes in the UK Biobank

Azevedo et al. conduct a machine learning-based analysis of structural MRI data from multiple cohorts. The authors identify Alzheimer’s disease-like neuroimaging phenotypes associated with poorer cognitive performance in a healthy UK Biobank cohort, potentially highlighting a population at risk of Alzheimer’s disease.

Tiago Azevedo
Richard A. I. Bethlehem
Gail Li
ResearchOpen Access20 Jul 2023
Communications Medicine

Volume: 3, P: 1-15
A Selective AMPA Antagonist, LY293558, Suppresses Morphine Withdrawal-Induced Activation of Locus Coeruleus Neurons and Behavioral Signs of Morphine Withdrawal

Kurt Rasmussen
William T Kendrick
George K Aghajanian
Research01 Nov 1996
Neuropsychopharmacology

Volume: 15, P: 497-505
Encoding human serine phosphopeptides in bacteria for proteome-wide identification of phosphorylation-dependent interactions

Screening with bacteria encoding human serine phosphopeptides reveals phosphoprotein interactions.

Karl W Barber
Paul Muir
Jesse Rinehart
Research11 Jun 2018
Nature Biotechnology

Volume: 36, P: 638-644
Publisher Correction: Shared heritability and functional enrichment across six solid cancers

Xia Jiang
Hilary K. Finucane
Sara Lindström
Amendments and CorrectionsOpen Access23 Sept 2019
Nature Communications

Volume: 10, P: 1-8
Multiomics analysis to explore blood metabolite biomarkers in an Alzheimer’s Disease Neuroimaging Initiative cohort

Takaki Oka
Yuki Matsuzawa
Balebail Ashok Raj
ResearchOpen Access02 Apr 2024
Scientific Reports

Volume: 14, P: 1-14
Deep learning-based polygenic risk analysis for Alzheimer’s disease prediction

Zhou et al. utilise deep learning to improve polygenic risk analysis for Alzheimer’s disease. Their computational approach outperforms existing statistical methods and helps to identify potential biological mechanisms of Alzheimer’s disease risk.

Xiaopu Zhou
Yu Chen
Nancy Y. Ip
ResearchOpen Access06 Apr 2023
Communications Medicine

Volume: 3, P: 1-20
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
Test Stirs Up Tempest in An N₂ Plot

Jeffrey L. Fox
News01 Jul 1990
Bio/Technology

Volume: 8, P: 598-599
Predicting Short-term MCI-to-AD Progression Using Imaging, CSF, Genetic Factors, Cognitive Resilience, and Demographics

Yogatheesan Varatharajah
Vijay K. Ramanan
Kristin Fargher
ResearchOpen Access19 Feb 2019
Scientific Reports

Volume: 9, P: 1-15
Potentiation of AMPA receptors for rapid therapeutic gain in psychiatry has reached a new level of excitement

Jeffrey M. Witkin
Arnold Lippa
Research13 Jul 2023
Neuropsychopharmacology

Volume: 49, P: 339-340
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
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

David Whitcomb, Bernie Devlin and colleagues report the results of a genome-wide association study of pancreatitis. They identify common variants at two loci associated with risk of this disease, including one on the X chromosome that shows strong evidence of interaction with alcohol consumption.

David C Whitcomb
Jessica LaRusch
Bernie Devlin
Research11 Nov 2012
Nature Genetics

Volume: 44, P: 1349-1354
Polymers with autonomous life-cycle control

Jason F. Patrick
Maxwell J. Robb
Scott R. White
Reviews14 Dec 2016
Nature

Volume: 540, P: 363-370
Nutritional control of antibiotic production by Streptomyces platensis MA7327: importance of l-aspartic acid

Maria Falzone
Emmanuel Crespo
Arnold L Demain
Research03 May 2017
The Journal of Antibiotics

Volume: 70, P: 828-831
A predictive model using the mesoscopic architecture of the living brain to detect Alzheimer’s disease

Inglese et al. develop a predictive model that computes multi-regional statistical morpho-functional mesoscopic traits from T1-weighted magnetic resonance imaging scans. Their model reliably discriminates people with Alzheimer’s disease-related pathologies from those without.

Marianna Inglese
Neva Patel
Eric O. Aboagye
ResearchOpen Access20 Jun 2022
Communications Medicine

Volume: 2, P: 1-16
A blood-based signature of cerebrospinal fluid Aβ_1–42 status

Benjamin Goudey
Bowen J. Fung
Brenda Plassman
ResearchOpen Access11 Mar 2019
Scientific Reports

Volume: 9, P: 1-12
Staging tau pathology with tau PET in Alzheimer’s disease: a longitudinal study

Shi-Dong Chen
Jia-Ying Lu
Michelle Zmuda
ResearchOpen Access18 Sept 2021
Translational Psychiatry

Volume: 11, P: 1-12

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