Nature Search

Rediscovery of Da Rios equations

The remarkable story of the discovery of a set of equations at least three times this century shows once again that independent discoveries can occur and exist for some time.

Renzo L. Ricca
Comments & Opinion15 Aug 1991
Nature

Volume: 352, P: 561-562
Intron-exon structure of the MET gene and cloning of an alternatively-spliced Met isoform reveals frequent exon-skipping of a single large internal exon

Jenny C Lin
Monica Naujokas
Morag Park
Research03 Mar 1998
Oncogene

Volume: 16, P: 833-842
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Tyrosine phosphorylation of the fission yeast cdc2⁺ protein kinase regulates entry into mitosis

Kathleen L. Gould
Paul Nurse
Research02 Nov 1989
Nature

Volume: 342, P: 39-45
Coexpression of hepatocyte growth factor-Met: an early step in ovarian carcinogenesis?

A S T Wong
S L Pelech
N Auersperg
Research15 Mar 2001
Oncogene

Volume: 20, P: 1318-1328
Whole-genome sequencing reveals host factors underlying critical COVID-19

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

Athanasios Kousathanas
Erola Pairo-Castineira
J. Kenneth Baillie
ResearchOpen Access07 Mar 2022
Nature

Volume: 607, P: 97-103
Erratum: HSP70 inhibition by 2-phenylethynesulfonamide induces lysosomal cathepsin D release and immunogenic cell death in primary effusion lymphoma

M Granato
V Lacconi
M Cirone
Amendments and Corrections22 May 2014
Cell Death & Disease

Volume: 5, P: e1254
Whole genome analysis of water buffalo and global cattle breeds highlights convergent signatures of domestication

The comparative genomics of domesticated lineages can yield insights into the signatures of artificial selection. This study sequences 79 water buffalo genomes from 7 breeds and reveals examples of convergent domestication at the genetic level between water buffalo and cattle.

Prasun Dutta
Andrea Talenti
James G. D. Prendergast
ResearchOpen Access21 Sept 2020
Nature Communications

Volume: 11, P: 1-13
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

This Brain Somatic Mosaicism Network analysis of 283 cases of malformations of cortical development identifies 69 candidate and known genes in 76 patients. Single-nucleus RNA sequencing and mouse modeling implicate radial glia and daughter excitatory neurons.

Changuk Chung
Xiaoxu Yang
Joseph G. Gleeson
Research12 Jan 2023
Nature Genetics

Volume: 55, P: 209-220
Handling multiple time-varying exposures in survival analysis using real-world pediatric data from the pedianet database

E. Gonzato
L. Annicchiarico
D. Valentini
ResearchOpen Access22 Aug 2025
Scientific Reports

Volume: 15, P: 1-8
In vitro malignant progression of cells derived from Abelson murine leukaemia virus-induced thymic lymphomas

D Saggioro
R Zamarchi
L Chieco-Bianchi
Research01 Aug 1988
British Journal of Cancer

Volume: 58, P: 152-157
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

Genome-wide association analyses identify 30 risk loci for IgA nephropathy. Functional annotations of putative causal genes converge on inflammatory signaling pathways and cytokine ligand–receptor pairs, prioritizing potential new drug targets.

Krzysztof Kiryluk
Elena Sanchez-Rodriguez
Ali G. Gharavi
Research19 Jun 2023
Nature Genetics

Volume: 55, P: 1091-1105
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

Disruptions to the ER-Golgi network can lead to neurodevelopmental disorders, though our understanding of these Golgipathies remains incomplete. Here Lauri, Tartaglia and colleagues show that ARF3 mutations cause a rare pediatric neurological disorder and perform detailed molecular characterization in fish.

Giulia Fasano
Valentina Muto
Marco Tartaglia
ResearchOpen Access11 Nov 2022
Nature Communications

Volume: 13, P: 1-29
Genetic mechanisms of critical illness in COVID-19

A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

Erola Pairo-Castineira
Sara Clohisey
J. Kenneth Baillie
Research11 Dec 2020
Nature

Volume: 591, P: 92-98
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

Michael Seldin and colleagues report a genome-wide association study and meta-analyses for primary biliary cirrhosis. They identify three loci newly associated with susceptibility to this autoimmune liver disease.

Xiangdong Liu
Pietro Invernizzi
Michael F Seldin
Research18 Jul 2010
Nature Genetics

Volume: 42, P: 658-660
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Genome-wide association meta-analyses identify 26 risk loci for epilepsy, including 19 loci specific to genetic generalized epilepsy. Prioritized candidate genes implicate synaptic processes and overlap with targets of antiseizure medications.

Remi Stevelink
Ciarán Campbell
Quratulain Zulfiqar Ali
ResearchOpen Access31 Aug 2023
Nature Genetics

Volume: 55, P: 1471-1482
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Familial cortical myoclonic tremor (FAME) has so far been mapped to regions on chromosome 2, 3, 5 and 8 and pentameric repeat expansions in SAMD12 were identified as cause of FAME1. Here, Corbett et al. identify ATTTT/ATTTC repeat expansions in intron 1 of STARD7 in individuals with FAME2.”

Mark A. Corbett
Thessa Kroes
Jozef Gecz
ResearchOpen Access29 Oct 2019
Nature Communications

Volume: 10, P: 1-10
Seventy-five genetic loci influencing the human red blood cell

A series of genetic studies have led to the discovery of novel independent loci and candidate genes associated with red blood cell phenotype; for a proportion of these genes potential single-nucleotide genetic variants are also identified, providing new insights into genetic pathways controlling red blood cell formation, function and pathology.

Pim van der Harst
Weihua Zhang
John C. Chambers
Research05 Dec 2012
Nature

Volume: 492, P: 369-375
A gravitational-wave standard siren measurement of the Hubble constant

The astronomical event GW170817, detected in gravitational and electromagnetic waves, is used to determine the expansion rate of the Universe, which is consistent with and independent of existing measurements.

B. P. Abbott
R. Abbott
M. Serra-Ricart
Research16 Oct 2017
Nature

Volume: 551, P: 85-88
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

Siwei Chen
Bassel W. Abou-Khalil
Samuel F. Berkovic
Research03 Oct 2024
Nature Neuroscience

Volume: 27, P: 1864-1879
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

Ali Gharavi and colleagues report a genome-wide association analysis of IgA nephropathy in over 20,000 individuals of European and East Asian ancestry. They identify genome-wide significant signals at three new loci near VAV3, CARD9 and ITGAM-ITGAX and correlations between genetic risk and pathogen diversity.

Krzysztof Kiryluk
Yifu Li
Ali G Gharavi
Research12 Oct 2014
Nature Genetics

Volume: 46, P: 1187-1196
Microsatellite instability in thyroid tumours and tumour-like lesions

D Lazzereschi
R Palmirotta
R Mariani-Costantini
ResearchOpen Access18 Dec 1998
British Journal of Cancer

Volume: 79, P: 340-345
Papillary carcinoma of the thyroid: methylation is not involved in the regulation of MET expression

S Scarpino
A Di Napoli
L Ruco
ResearchOpen Access20 Jul 2004
British Journal of Cancer

Volume: 91, P: 703-706
A first update on mapping the human genetic architecture of COVID-19

Gita A. Pathak
Juha Karjalainen
J. Kenneth Baillie
ResearchOpen Access03 Aug 2022
Nature

Volume: 608, P: E1-E10
Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression

Epilepsy is a brain network disorder with associated genetic risk factors. Here, the authors show that spatial patterns of transcriptomic vulnerability co-vary with structural brain network alterations in focal and generalized epilepsy.

Sara Larivière
Jessica Royer
Boris C. Bernhardt
ResearchOpen Access27 Jul 2022
Nature Communications

Volume: 13, P: 1-16
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

Primary biliary cirrhosis is an autoimmune liver disease with poor therapeutic options. Here Cordell et al. a perform meta-analysis of European genome-wide association studies identifying six novel risk loci and a number of potential therapeutic pathways.

Heather J. Cordell
Younghun Han
Katherine A. Siminovitch
ResearchOpen Access22 Sept 2015
Nature Communications

Volume: 6, P: 1-11
Dimerization of the p185^neu transmembrane domain is necessary but not sufficient for transformation

Christine L Burke
Mark A Lemmon
David F Stern
Research13 Feb 1997
Oncogene

Volume: 14, P: 687-696
Specific capture and whole-genome phylogeography of Dolphin morbillivirus

Francesco Cerutti
Federica Giorda
Simone Peletto
ResearchOpen Access30 Nov 2020
Scientific Reports

Volume: 10, P: 1-10
Outer retina dysfunction and choriocapillaris impairment in type 1 diabetes

M. Parravano
L. Ziccardi
G. Querques
ResearchOpen Access26 Jul 2021
Scientific Reports

Volume: 11, P: 1-9
Increased expression of HGF and c-met in rat small intestine during recovery from methotrexate-induced mucositis

C J Xian
R Couper
N C Kallincos
ResearchOpen Access20 Jan 2000
British Journal of Cancer

Volume: 82, P: 945-952
Conservation of writhe helicity under anti-parallel reconnection

Christian E. Laing
Renzo L. Ricca
De Witt L. Sumners
ResearchOpen Access30 Mar 2015
Scientific Reports

Volume: 5, P: 1-6
TLR9 triggering in Burkitt's lymphoma cell lines suppresses the EBV BZLF1 transcription via histone modification

L Zauner
G T Melroe
D Nadal
Research31 May 2010
Oncogene

Volume: 29, P: 4588-4598
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as a cause of FAME3.

Rahel T. Florian
Florian Kraft
Christel Depienne
ResearchOpen Access29 Oct 2019
Nature Communications

Volume: 10, P: 1-14
A positive feedback loop between hepatocyte growth factor receptor and β-catenin sustains colorectal cancer cell invasive growth

A Rasola
M Fassetta
P M Comoglio
Research04 Sept 2006
Oncogene

Volume: 26, P: 1078-1087
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

tRNAs are linked with their cognate amino acid by aminoacyl tRNA synthetases (ARS). Here, the authors report a developmental encephalopathy associated with biallelic VARS variants (valyl-tRNA synthetase) that lead to loss of function, as determined by several in vitro assays and a vars knockout zebrafish model.

Aleksandra Siekierska
Hannah Stamberger
Peter De Jonghe
ResearchOpen Access12 Feb 2019
Nature Communications

Volume: 10, P: 1-15
Signaling ammonium across membranes through an ammonium sensor histidine kinase

For anammox bacteria, the sensing and uptake of ammonium is essential and specialized proteins, like Ks-Amt5, mediate such processes. Here, authors perform biophysical, biochemical, and structural analysis on Ks-Amt5 and establish a role for this protein as an ammonium-sensing signal transducer.

Tobias Pflüger
Camila F. Hernández
Susana L. A. Andrade
ResearchOpen Access11 Jan 2018
Nature Communications

Volume: 9, P: 1-11
Cardiolipin and its metabolites move from mitochondria to other cellular membranes during death receptor-mediated apoptosis

M Sorice
A Circella
M Degli Esposti
Research04 Jun 2004
Cell Death & Differentiation

Volume: 11, P: 1133-1145
RICTOR variants are associated with neurodevelopmental disorders

Raphael Carapito
Anne Molitor
Seiamak Bahram
Research30 Dec 2024
European Journal of Human Genetics

Volume: 33, P: 966-972
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

Joanne Traeger-Synodinos
Cornelis L Harteveld
Alison May
ReviewsOpen Access23 Jul 2014
European Journal of Human Genetics

Volume: 23, P: 426-437
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

George Patrinos and colleagues report the first implementation of the microattribution approach to systematically document genetic variation associated with a disease, applied here to hemoglobinopathies and thalassemias. They developed a series of connected locus-specific databases that document genotype and phenotype information for genetic variation in 37 globin and erythroid protein genes in individuals with globin disorders, with reciprocal attribution to data contributors.

Belinda Giardine
Joseph Borg
George P Patrinos
ResearchOpen Access20 Mar 2011
Nature Genetics

Volume: 43, P: 295-301
Primary resistance to cetuximab therapy in EGFR FISH-positive colorectal cancer patients

F Cappuzzo
M Varella-Garcia
P A Jänne
ResearchOpen Access24 Jun 2008
British Journal of Cancer

Volume: 99, P: 83-89
Lipid-soluble vitamins A, D, and E in HIV-infected pregnant women in Tanzania

S Mehta
D Spiegelman
W W Fawzi
Research02 Jun 2010
European Journal of Clinical Nutrition

Volume: 64, P: 808-817
Osteopontin binds ICOSL promoting tumor metastasis

Davide Raineri, Chiara Dianzani et al. show that osteopontin binds ICOSL at a different domain than the one used by ICOS. Activation of ICOSL by osteopontin induces cell migration in vitro and tumor metastatization in a 4T1 breast cancer mouse model; highlighting the functional role of this interaction in cancer progression.

Davide Raineri
Chiara Dianzani
Annalisa Chiocchetti
ResearchOpen Access26 Oct 2020
Communications Biology

Volume: 3, P: 1-15
Early cellular abnormalities induced by RET/PTC1 oncogene in thyroid-targeted transgenic mice

Je-Yoel Cho
John E Sagartz
Sissy M Jhiang
Research14 Jul 1999
Oncogene

Volume: 18, P: 3659-3665
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

Barbara Iadarola
Luciano Xumerle
Massimo Delledonne
ResearchOpen Access10 Jun 2020
Scientific Reports

Volume: 10, P: 1-11
UbcH10 overexpression may represent a marker of anaplastic thyroid carcinomas

P Pallante
M T Berlingieri
A Fusco
ResearchOpen Access02 Aug 2005
British Journal of Cancer

Volume: 93, P: 464-471
Synergy between truncated c-Met (cyto-Met) and c-Myc in liver oncogenesis: importance of TGF-β signalling in the control of liver homeostasis and transformation

Laura Amicone
Olivier Terradillos
Marco Tripodi
Research21 Feb 2002
Oncogene

Volume: 21, P: 1335-1345
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

Francesca Minnai
Filippo Biscarini
Francesca Colombo
ResearchOpen Access06 Feb 2024
Scientific Reports

Volume: 14, P: 1-14
Non-reliance of metazoans on stromatolite-forming microbial mats as a food resource

Gavin M. Rishworth
Renzo Perissinotto
Jacqueline L. Raw
ResearchOpen Access16 Feb 2017
Scientific Reports

Volume: 7, P: 1-12
Glucose Suppression of Insulin Secretion in Chronically Hyperglycemic Fetal Sheep

Thomas D Carver
Susan M Anderson
William W Hay JR
Research01 Nov 1995
Pediatric Research

Volume: 38, P: 754-762

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