Nature Search

Epigenetic and metabolic rewiring in metastatic pheochromocytomas and paragangliomas driven by SDHB mutations

SDHB mutations promote metastatic PPGLs through early epigenetic priming and metabolic adaptation. This study identifies fructose metabolism via SLC2A5 as a stress-responsive pathway supporting tumor growth.

Tamara Cubiella
Juan José Alba-Linares
María-Dolores Chiara
ResearchOpen Access15 Jan 2026
Communications Biology

P: 1-15
Evaluation of predictive biomarkers for late radiation toxicity in breast cancer patients

Ángela Solana-Peña
Monica Pujol-Canadell
Joan Francesc Barquinero Estruch
ResearchOpen Access02 Dec 2025
Scientific Reports

Volume: 16, P: 1-13
Combination therapy with topical alprostadil and phosphodiesterase-5 inhibitors after failure of oral therapy in patients with erectile dysfunction: a prospective, two-arm, open-label, non-randomized study

Pablo Garrido-Abad
Isabel Senra-Bravo
Juan Ignacio Martínez-Salamanca
Research22 Jan 2021
International Journal of Impotence Research

Volume: 34, P: 164-171
The Helicobacter pylori Genome Project: insights into H. pylori population structure from analysis of a worldwide collection of complete genomes

The bacterium Helicobacter pylori, often found in the human stomach, can be classified into distinct subpopulations associated with the geographic origin of the host. Here, the authors provide insights into H. pylori population structure by collecting over 1,000 clinical strains from 50 countries and generating and analyzing high-quality bacterial genome sequences.

Kaisa Thorell
Zilia Y. Muñoz-Ramírez
Charles S. Rabkin
ResearchOpen Access11 Dec 2023
Nature Communications

Volume: 14, P: 1-16
CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I

Substrate reduction therapies (SRT) are a promising therapeutic approach for monogenic inherited metabolic diseases. Here the authors evaluate the therapeutic potential of an in vivo CRISPR/Cas9-mediated SRT to treat primary hyperoxaluria type I and demonstrate its safety and efficacy.

Nerea Zabaleta
Miren Barberia
Juan R. Rodriguez-Madoz
ResearchOpen Access21 Dec 2018
Nature Communications

Volume: 9, P: 1-9
A new molecular classification to drive precision treatment strategies in primary Sjögren’s syndrome

Sjögren’s syndrome, a disease that primarily affects women, is poorly understood. Here, the authors combine data from a large cohort of patients and healthy controls to identify biomarkers that distinguish patient subgroups to improve our understanding of the disease and facilitate drug development.

Perrine Soret
Christelle Le Dantec
Jacques-Olivier Pers
ResearchOpen Access10 Jun 2021
Nature Communications

Volume: 12, P: 1-18
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1337-1347
Increased blood draws for ultrasensitive ctDNA and CTCs detection in early breast cancer patients

Alfonso Alba-Bernal
Ana Godoy-Ortiz
Emilio Alba
ResearchOpen Access15 May 2024
npj Breast Cancer

Volume: 10, P: 1-14
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
Amendments and Corrections16 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1466-1469
Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants

Olivia Castellini-Pérez
Elena Povedano
Marta E. Alarcón-Riquelme
ResearchOpen Access16 Jul 2024
npj Genomic Medicine

Volume: 9, P: 1-13
Absence of relevant QT interval prolongation in not critically ill COVID-19 patients

Juan Jiménez-Jáimez
Rosa Macías-Ruiz
Luis Tercedor
ResearchOpen Access08 Dec 2020
Scientific Reports

Volume: 10, P: 1-8
Post thawing viable CD34+ Cells dose is a better predictor of clinical outcome in lymphoma patients undergoing autologous stem cell transplantation

Jesus Fernandez-Sojo
Joan Cid
Sergio Querol
Correspondence25 May 2022
Bone Marrow Transplantation

Volume: 57, P: 1341-1343
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

Martin Kerick
Marialbert Acosta-Herrera
Javier Martin
ResearchOpen Access05 Oct 2022
npj Genomic Medicine

Volume: 7, P: 1-12
Predicting fertility from sperm motility landscapes

Dimension reduction methods on porcine sperm motility landscapes reveal heterogeneity and hierarchy in sperm movement behavior and show high-speed and straight-lined motion as predictive features of fertility.

Pol Fernández-López
Joan Garriga
Frederic Bartumeus
ResearchOpen Access28 Sept 2022
Communications Biology

Volume: 5, P: 1-11
Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature

María Teruel
Guillermo Barturen
Marta E. Alarcón-Riquelme
ResearchOpen Access02 Dec 2021
Scientific Reports

Volume: 11, P: 1-18
Body mass index interacts with a genetic-risk score for depression increasing the risk of the disease in high-susceptibility individuals

Augusto Anguita-Ruiz
Juan Antonio Zarza-Rebollo
Margarita Rivera
ResearchOpen Access24 Jan 2022
Translational Psychiatry

Volume: 12, P: 1-10
IgM antibodies against malondialdehyde and phosphorylcholine in different systemic rheumatic diseases

Divya Thiagarajan
Nina Oparina
Johan Frostegård
ResearchOpen Access03 Jul 2020
Scientific Reports

Volume: 10, P: 1-13
Characterisation of the blood RNA host response underpinning severity in COVID-19 patients

Heather Jackson
Irene Rivero Calle
Calviño-Suárez Cristina
ResearchOpen Access17 Jul 2022
Scientific Reports

Volume: 12, P: 1-14
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Thomas Roux
Mathieu Barbier
Nicholas Wood
Research27 Jul 2020
Genetics in Medicine

Volume: 22, P: 1851-1862
Standardization procedure for flow cytometry data harmonization in prospective multicenter studies

Lucas Le Lann
Pierre-Emmanuel Jouve
Michael Zauner
ResearchOpen Access14 Jul 2020
Scientific Reports

Volume: 10, P: 1-8
The value of the continuous genotyping of multi-drug resistant tuberculosis over 20 years in Spain

María José Iglesias
Daniel Ibarz
M. I. Galán
ResearchOpen Access24 Nov 2020
Scientific Reports

Volume: 10, P: 1-12
Geriatric assessment may help decision-making in elderly patients with inoperable, locally advanced non-small-cell lung cancer

Maite Antonio
Juana Saldaña
Ernest Nadal
ResearchOpen Access30 Jan 2018
British Journal of Cancer

Volume: 118, P: 639-647
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Thomas Roux
Mathieu Barbier
Nicholas Wood
Amendments and Corrections22 Dec 2020
Genetics in Medicine

Volume: 23, P: 2021
Author Correction: The value of the continuous genotyping of multi-drug resistant tuberculosis over 20 years in Spain

María José Iglesias
Daniel Ibarz
M. I. Galán
Amendments and CorrectionsOpen Access13 Mar 2025
Scientific Reports

Volume: 15, P: 1

Search

Epigenetic and metabolic rewiring in metastatic pheochromocytomas and paragangliomas driven by SDHB mutations

Evaluation of predictive biomarkers for late radiation toxicity in breast cancer patients

Combination therapy with topical alprostadil and phosphodiesterase-5 inhibitors after failure of oral therapy in patients with erectile dysfunction: a prospective, two-arm, open-label, non-randomized study

The Helicobacter pylori Genome Project: insights into H. pylori population structure from analysis of a worldwide collection of complete genomes

CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I

A new molecular classification to drive precision treatment strategies in primary Sjögren’s syndrome

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Increased blood draws for ultrasensitive ctDNA and CTCs detection in early breast cancer patients

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants

Absence of relevant QT interval prolongation in not critically ill COVID-19 patients

Post thawing viable CD34+ Cells dose is a better predictor of clinical outcome in lymphoma patients undergoing autologous stem cell transplantation

Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

Predicting fertility from sperm motility landscapes

Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature

Body mass index interacts with a genetic-risk score for depression increasing the risk of the disease in high-susceptibility individuals

IgM antibodies against malondialdehyde and phosphorylcholine in different systemic rheumatic diseases

Characterisation of the blood RNA host response underpinning severity in COVID-19 patients

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Standardization procedure for flow cytometry data harmonization in prospective multicenter studies

The value of the continuous genotyping of multi-drug resistant tuberculosis over 20 years in Spain

Geriatric assessment may help decision-making in elderly patients with inoperable, locally advanced non-small-cell lung cancer

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Author Correction: The value of the continuous genotyping of multi-drug resistant tuberculosis over 20 years in Spain

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