Nature Search

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Variants in the PSMC5 gene impair proteasome function and cellular homeostasis, altering brain development in children. This study reveals underlying molecular mechanisms contributing to this neurodevelopmental phenotype, and suggests therapeutic leads for neurodevelopmental proteasomopathies.

Sébastien Küry
Janelle E. Stanton
Elke Krüger
ResearchOpen Access26 Nov 2025
Nature Communications

Volume: 16, P: 1-21
Concentration of methane in the troposphere deduced from 1951 infrared solar spectra

Curtis P. Rinsland
Joel S. Levine
Thomas Miles
Research21 Nov 1985
Nature

Volume: 318, P: 245-249
Problems and promises of targeted therapy for Hodgkin's lymphoma

Hodgkin's lymphoma has become a curable disease successfully treated using dose-escalated BEACOPP chemotherapy regimens pioneered by the German Hodgkin's Lymphoma Study Group. However, the unacceptable side effects of chemotherapy have propagated new therapeutic concepts based on biological characteristics of the disease to be explored. This viewpoint discusses the promises and pitfalls of targeted therapy.

Daniel Re
Roman K Thomas
Volker Diehl
Reviews01 Jan 2005
Nature Clinical Practice Oncology

Volume: 2, P: 2-3
Global hotspots of mycorrhizal fungal richness are poorly protected

Machine-learning algorithms trained on 25,000 geolocated soil samples are used to create high-resolution global maps of mycorrhizal fungi, revealing that less than 10% of their biodiversity hotspots are in protected areas.

Michael E. Van Nuland
Colin Averill
Johan van den Hoogen
ResearchOpen Access23 Jul 2025
Nature

Volume: 645, P: 414-422
Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization

Thomas Haaf
Giorgio Sirugo
David C. Ward
Research01 Feb 1996
Nature Genetics

Volume: 12, P: 183-185
Correction: Publisher correction: Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

Jun Fang
Jinping Jia
Laufey T. Amundadottir
Amendments and CorrectionsOpen Access05 Mar 2018
Nature Communications

Volume: 9, P: 1-2
Nivolumab plus chemotherapy or ipilimumab in gastroesophageal cancer: exploratory biomarker analyses of a randomized phase 3 trial

Exploratory biomarker analyses of the phase 3 CheckMate 649 trial show that in patients with advanced gastroesophageal cancer, KRAS alterations were associated with greater overall survival (OS) benefit when treated with nivolumab plus chemotherapy vs chemotherapy alone, whereas high regulatory T-cell signatures were associated with greater OS benefit when treated with nivolumab plus ipilimumab.

Kohei Shitara
Yelena Y. Janjigian
Ming Lei
ResearchOpen Access07 Mar 2025
Nature Medicine

Volume: 31, P: 1519-1530
Correction: Corrigendum: High-throughput oncogene mutation profiling in human cancer

Roman K Thomas
Alissa C Baker
Levi A Garraway
Amendments and Corrections01 Apr 2007
Nature Genetics

Volume: 39, P: 567
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA

Michael D. Koob
Kellie A. Benzow
Laura P.W. Ranum
Research01 Jan 1998
Nature Genetics

Volume: 18, P: 72-75
High-throughput oncogene mutation profiling in human cancer

Roman K Thomas
Alissa C Baker
Levi A Garraway
Research11 Feb 2007
Nature Genetics

Volume: 39, P: 347-351
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

Pulmonary carcinoids account for about 2% of pulmonary neoplasms. Here, the authors carry out gene copy number analysis, genome/exome, and transcriptome sequencing of pulmonary carcinoids and identify frequent mutations in chromatin-remodelling genes that can drive tumorigenesis in these tumours.

Lynnette Fernandez-Cuesta
Martin Peifer
Roman K. Thomas
Research27 Mar 2014
Nature Communications

Volume: 5, P: 1-7
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

Genetic variants at multiple loci of chr5p15.33 have been associated with susceptibility to numerous cancers. Here the authors show that the association of one of these loci may be explained by a variant, rs36115365, influencing telomerase reverse transcriptase (TERT) expression via ZNF148.

Jun Fang
Jinping Jia
Laufey T. Amundadottir
ResearchOpen Access27 Apr 2017
Nature Communications

Volume: 8, P: 1-17
Comprehensive genomic profiles of small cell lung cancer

Genomic sequencing of 110 human small cell lung cancers identifies genomic signatures including nearly ubiquitous bi-allelic inactivation of TP53 and RB1, a role for NOTCH family genes, and somatic rearrangements that create an oncogenic version of TP73.

Julie George
Jing Shan Lim
Roman K. Thomas
Research13 Jul 2015
Nature

Volume: 524, P: 47-53
Copy-number-gain of telomerase reverse transcriptase (hTERT) is associated with an unfavorable prognosis in esophageal adenocarcinoma

Su Ir Lyu
Felix C. Popp
Karl Knipper
ResearchOpen Access17 Oct 2023
Scientific Reports

Volume: 13, P: 1-8
Nivolumab plus chemotherapy or ipilimumab in gastro-oesophageal cancer

Results in the CheckMate 649 phase 3 trial for first-line combined nivolumab and chemotherapy treatment continue to show clinically meaningful efficacy in gastric, gastro-oesophageal junction or oesophageal adenocarcinoma after 24 months, with no new safety signals.

Kohei Shitara
Jaffer A. Ajani
Yelena Y. Janjigian
ResearchOpen Access23 Mar 2022
Nature

Volume: 603, P: 942-948
Fetal gut cell-like differentiation in esophageal adenocarcinoma defines a rare tumor subtype with therapeutically relevant claudin-6 positivity and SWI/SNF gene alteration

Max Kraemer
Thomas Zander
Alexander Quaas
ResearchOpen Access12 Jun 2024
Scientific Reports

Volume: 14, P: 1-7
Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors

The molecular nature of large-cell neuroendocrine lung carcinomas (LCNEC) has remained unclear. Here, the authors show LCNECs represent a distinct transcriptional subgroup among lung cancers and comprise two molecular subgroups, type I (TP53 and STK11/KEAP1 alterations) and type II (TP53 and RB1 inactivation).

Julie George
Vonn Walter
Roman K. Thomas
ResearchOpen Access13 Mar 2018
Nature Communications

Volume: 9, P: 1-13
Integrin beta1 (ITGB1) as a prognostic marker in esophageal adenocarcinoma

Alexander I. Damanakis
Isabell Wahler
Florian Gebauer
ResearchOpen Access01 Dec 2022
Scientific Reports

Volume: 12, P: 1-7
A gatekeeper helix determines the substrate specificity of Sjögren–Larsson Syndrome enzyme fatty aldehyde dehydrogenase

How the substrate specificity of fatty aldehyde dehydrogenase (FALDH) towards long-chain aldehydes is achieved is an unresolved question. Here the authors present a crystal structure of human membrane-bound FALDH and find that it contains a ‘gatekeeper’ helix that directs substrate specificity towards long-chain fatty aldehydes.

Markus A. Keller
Ulrich Zander
Jose A. Marquez
ResearchOpen Access22 Jul 2014
Nature Communications

Volume: 5, P: 1-12
Integrin alpha V (ITGAV) expression in esophageal adenocarcinoma is associated with shortened overall-survival

Heike Loeser
Matthias Scholz
Florian Gebauer
ResearchOpen Access27 Oct 2020
Scientific Reports

Volume: 10, P: 1-10
Dung removal increases under higher dung beetle functional diversity regardless of grazing intensification

Ecosystem services provided by dung beetles are an underappreciated component of terrestrial ecosystems. Here, the authors report a standardized distributed experiment which shows that dung removal rate, a key ecosystem process in pastures, is greater under high beetle functional diversity regardless of grazing intensity.

Jorge Ari Noriega
Joaquín Hortal
Ana M. C. Santos
ResearchOpen Access06 Dec 2023
Nature Communications

Volume: 14, P: 1-11
Methylphenidate Response, Psychopathology and Tardive Dyskinesia as Predictors of Relapse in Schizophrenia

Jeffrey A. Lieberman
Jose Alvir
John M. Kane
Research01 Oct 1994
Neuropsychopharmacology

Volume: 11, P: 107-118
Using metamaterial nanoengineering to triple the superconducting critical temperature of bulk aluminum

Vera N. Smolyaninova
Kathryn Zander
Igor I. Smolyaninov
ResearchOpen Access02 Nov 2015
Scientific Reports

Volume: 5, P: 1-7
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

Roman Thomas and colleagues report exome sequencing of 29 small-cell lung cancers (SCLCs), 2 SCLC genomes and transcriptomes of 15 SCLCs. They identify recurrent mutations in the CREBBP, EP300 and MLL genes encoding histone modifiers. They identify mutations in SLIT2 and EPHA7, which have a role in axon guidance and cell migration, and focal amplifications of FGFR1.

Martin Peifer
Lynnette Fernández-Cuesta
Roman K Thomas
Research02 Sept 2012
Nature Genetics

Volume: 44, P: 1104-1110
Microbial network disturbances in relapsing refractory Crohn’s disease

A disturbed microbial network characterizes relapsing refractory Crohn’s disease and antedates disease recurrence after surgical removal of the active disease segment.

Bahtiyar Yilmaz
Pascal Juillerat
Andrew J. Macpherson
Research21 Jan 2019
Nature Medicine

Volume: 25, P: 323-336
The expression of the tight junction protein and therapeutical target Claudin 18.2 is heterogeneously distributed within esophageal and gastric adenocarcinoma

Svetlana Pak
Adrian Georg Simon
Alexander Quaas
ResearchOpen Access07 Aug 2025
Scientific Reports

Volume: 15, P: 1-11
mRNA quality control is bypassed for immediate export of stress-responsive transcripts

Heat shock drives the expression of transcripts that bypass mRNA quality control for direct export and translation, allowing cells to survive extreme situations at the cost of accuracy.

Gesa Zander
Alexandra Hackmann
Heike Krebber
Research12 Dec 2016
Nature

Volume: 540, P: 593-596
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribution to VEO-IBD and characterize a rare somatic mosaic VEO-IBD patient.

Eva Gonçalves Serra
Tobias Schwerd
Carl A. Anderson
ResearchOpen Access21 Feb 2020
Nature Communications

Volume: 11, P: 1-15
Basal-like subtype of esophageal adenocarcinoma and it’s morphological, molecular and clinical characteristics

Su Ir Lyu
Caroline Fretter
Alexander Quaas
ResearchOpen Access09 Jul 2025
Scientific Reports

Volume: 15, P: 1-12
Intradural extramedullary capillary hemangioma of the cauda equina: case report of a rare spinal tumor

Liam P. Hughes
Garrett Largoza
James S. Harrop
Research19 Mar 2021
Spinal Cord Series and Cases

Volume: 7, P: 1-4
Alternate-day dosing of pomalidomide in relapsed/ refractory multiple myeloma: a multicenter, single-arm phase 2 trial

Thilo Zander
Thomas Pabst
Christoph Driessen
ResearchOpen Access12 Jan 2023
Leukemia

Volume: 37, P: 699-701
Omics for prediction of environmental health effects: Blood leukocyte-based cross-omic profiling reliably predicts diseases associated with tobacco smoking

Panagiotis Georgiadis
Dennie G. Hebels
Shu-Fen Liao
ResearchOpen Access03 Feb 2016
Scientific Reports

Volume: 6, P: 1-15
Precise interpolar phasing of abrupt climate change during the last ice age

A new ice core from West Antarctica shows that, during the last ice age, abrupt Northern Hemisphere climate variations were followed two centuries later by a response in Antarctica, suggesting an oceanic propagation of the climate signal to the Southern Hemisphere high latitudes.

Christo Buizert
Betty Adrian
Thomas E. Woodruff
Research08 Apr 2015
Nature

Volume: 520, P: 661-665
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
Somatic alterations in circulating cell-free DNA of oesophageal carcinoma patients during primary staging are indicative for post-surgical tumour recurrence

Helen Pasternack
Jana Fassunke
Hakan Alakus
ResearchOpen Access08 Oct 2018
Scientific Reports

Volume: 8, P: 1-8
Biostimulation induces syntrophic interactions that impact C, S and N cycling in a sediment microbial community

Kim M Handley
Nathan C VerBerkmoes
Jillian F Banfield
Research29 Nov 2012
The ISME Journal

Volume: 7, P: 800-816
Adding bendamustine to melphalan before ASCT improves CR rate in myeloma vs. melphalan alone: A randomized phase-2 trial

Sarah Farag
Ulrike Bacher
Thomas Pabst
ResearchOpen Access20 Apr 2022
Bone Marrow Transplantation

Volume: 57, P: 990-997
Tumour area infiltration and cell count in endoscopic biopsies of therapy-naive upper GI tract carcinomas by QuPath analysis: implications for predictive biomarker testing

Andreas H. Scheel
Hannah Lamberty
Alexander Quaas
ResearchOpen Access16 Oct 2023
Scientific Reports

Volume: 13, P: 1-10
Loss of heterozygosity in the Hodgkin-Reed Sternberg cell line L1236

A Staratschek-Jox
R Kurt Thomas
J Wolf
ResearchOpen Access30 Jan 2001
British Journal of Cancer

Volume: 84, P: 381-387
Definition of a fluorescence in-situ hybridization score identifies high- and low-level FGFR1 amplification types in squamous cell lung cancer

Hans-Ulrich Schildhaus
Lukas C Heukamp
Reinhard Buettner
ResearchOpen Access08 Jun 2012
Modern Pathology

Volume: 25, P: 1473-1480
Tumour-infiltrating neutrophils counteract anti-VEGF therapy in metastatic colorectal cancer

Lars Mortimer Schiffmann
Melanie Fritsch
Oliver Coutelle
ResearchOpen Access31 Oct 2018
British Journal of Cancer

Volume: 120, P: 69-78
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
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Livia O. Loureiro
Jennifer L. Howe
Stephen W. Scherer
ResearchOpen Access04 Nov 2021
npj Genomic Medicine

Volume: 6, P: 1-12
Varicella zoster virus reactivation after autologous SCT is a frequent event and associated with favorable outcome in myeloma patients

C Kamber
S Zimmerli
T Pabst
Research19 Jan 2015
Bone Marrow Transplantation

Volume: 50, P: 573-578
Advanced sequencing approaches detected insertions of viral and human origin in the viral genome of chronic hepatitis E virus patients

C.-Patrick Papp
Paula Biedermann
C.-Thomas Bock
ResearchOpen Access02 Feb 2022
Scientific Reports

Volume: 12, P: 1-11
Discrepancy of particle passage in 101 mask batches during the first year of the Covid-19 pandemic in Germany

Lukas T. Hirschwald
Stefan Herrmann
John Linkhorst
ResearchOpen Access29 Dec 2021
Scientific Reports

Volume: 11, P: 1-11
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients

Kristoffer von Stedingk
Karl-Johan Stjernfelt
Ingrid Øra
ResearchOpen Access05 Mar 2021
Scientific Reports

Volume: 11, P: 1-10
Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

Robyn M. Busch
Siddharth Srivastava
Jennifer M. Phillips
ResearchOpen Access08 Oct 2019
Translational Psychiatry

Volume: 9, P: 1-9
Loss of the branched-chain amino acid transporter CD98hc alters the development of colonic macrophages in mice

CD98hc in macrophages attenuates the severity of colitis. This change in the macrophage development is associated with increased expression of apoptotic genes, suggesting that CD98hc maintains the gut homeostasis by ensuring the development of gut macrophages.

Philipp Wuggenig
Berna Kaya
Jan Hendrik Niess
ResearchOpen Access18 Mar 2020
Communications Biology

Volume: 3, P: 1-19
High incidence of reversible renal toxicity of dose-intensified bendamustine-based high-dose chemotherapy in lymphoma and myeloma patients

Irene Prediletto
Sarah A. Farag
Thomas Pabst
Correspondence19 Mar 2019
Bone Marrow Transplantation

Volume: 54, P: 1923-1925

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