Nature Search

A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer

The PSA (KLK3) genetic variant rs17632542 is associated with reduced prostate cancer risk and lower serum PSA levels, although the underlying reasons are unclear. Here, the authors show that this PSA variant reduced proteolytic activity and leads to smaller tumours, but also increases invasion and bone metastasis, indicating its dual risk association depending on tumour context; the variant is associated with both lower risk and poor clinical outcomes.

Srilakshmi Srinivasan
Thomas Kryza
Jyotsna Batra
ResearchOpen Access06 Nov 2024
Nature Communications

Volume: 15, P: 1-21
Epigenetic clocks in relapse after a first episode of schizophrenia

Àlex-González Segura
Llucia Prohens
Leticia González-Blanco
ResearchOpen Access22 Jul 2022
Schizophrenia

Volume: 8, P: 1-8
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

A meta-analysis of genome-wide association studies across different populations highlights new risk loci and provides a genetic risk score that can stratify prostate cancer risk across ancestries.

David V. Conti
Burcu F. Darst
Christopher A. Haiman
Research04 Jan 2021
Nature Genetics

Volume: 53, P: 65-75
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
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

Prostate cancer (PrCa) involves a large heritable genetic component. Here, the authors perform multivariate fine-mapping of known PrCa GWAS loci, identifying variants enriched for biological function, explaining more familial relative risk, and with potential application in clinical risk profiling.

Tokhir Dadaev
Edward J. Saunders
Zsofia Kote-Jarai
ResearchOpen Access11 Jun 2018
Nature Communications

Volume: 9, P: 1-19
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

A multi-ancestry genome-wide association study of prostate cancer performed in 156,319 cases and 788,443 controls identifies 187 novel risk variants associated with the disease. Genetic risk scores associated with overall risk, and risk of aggressive disease in men of African ancestry.

Anqi Wang
Jiayi Shen
Christopher A. Haiman
Research09 Nov 2023
Nature Genetics

Volume: 55, P: 2065-2074
Germline variation at 8q24 and prostate cancer risk in men of European ancestry

Chromosome 8q24 is known to be a major susceptibility region for prostate cancer risk. Here the authors analyze genetic data across the 8q24 region from 71,535 prostate cancer patients identifying 12 risk loci, three previously unreported, highlighting the contribution of germline variation at this locus.

Marco Matejcic
Edward J. Saunders
Christopher A. Haiman
ResearchOpen Access05 Nov 2018
Nature Communications

Volume: 9, P: 1-11
Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

Age at voice-breaking is used to determine puberty timing in men, recall of which is considered less accurate than age at first menarche in women. Here, the authors perform multi-trait GWAS for male puberty timing by including both age at voice breaking and age of first facial hair for improved phenotype definition and power.

Ben Hollis
Felix R. Day
John R. B. Perry
ResearchOpen Access24 Mar 2020
Nature Communications

Volume: 11, P: 1-10
p53 nuclear accumulation as an early indicator of lethal prostate cancer

David I. Quinn
Phillip D. Stricker
Kate L. Mahon
ResearchOpen Access14 Aug 2019
British Journal of Cancer

Volume: 121, P: 578-583
Immune resilience despite inflammatory stress promotes longevity and favorable health outcomes including resistance to infection

The response to infectious and inflammatory challenges differs among people but the reasons for this are poorly understood. Here the authors explore the impact of variables such as age, sex, and the capacity for controlling inflammation and maintaining immunocompetence, linking this capacity to favourable health outcomes and lifespan.

Sunil K. Ahuja
Muthu Saravanan Manoharan
Weijing He
ResearchOpen Access13 Jun 2023
Nature Communications

Volume: 14, P: 1-31
Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Fredrick R. Schumacher
Ali Amin Al Olama
Rosalind A. Eeles
Amendments and Corrections08 Jan 2019
Nature Genetics

Volume: 51, P: 363
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

Multiple myeloma is a cancer of the plasma cells, and the complete aetiology of the disease is still unclear. Here the authors perform an additional GWAS analysis followed by a meta-analysis with existing GWAS and replication genotyping and identify 6 novel risk loci and utilise gene expression, epigenetic profiling and in situ Hi-C data to further our understanding of MM susceptibility.

Molly Went
Amit Sud
Stephen N. Thibodeau
ResearchOpen Access13 Sept 2018
Nature Communications

Volume: 9, P: 1-10
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
Childhood functional abdominal pain: mechanisms and management

Chronic abdominal pain is common in children, but poorly understood. This Review summarizes the mechanisms and management of childhood functional abdominal pain in a bid to improve understanding and quality of care. The article provides up-to-date information on the epidemiology, pathophysiology, diagnosis and therapeutic management of this common childhood condition.

Judith Korterink
Niranga Manjuri Devanarayana
Marc A. Benninga
Reviews10 Feb 2015
Nature Reviews Gastroenterology & Hepatology

Volume: 12, P: 159-171
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

Classical Hodgkin lymphoma is a cancer that originates in lymph nodes. Little is known about its genetic susceptibility. Here, the authors combined existing and new genome-wide association studies to identify risk loci for classical Hodgkin lymphoma at 6q22.33, and nodular sclerosis Hodgkin lymphoma at 3q28, 6q23.3, 10p14, 13q34, 16p13.13.

Amit Sud
Hauke Thomsen
Richard S. Houlston
ResearchOpen Access01 Dec 2017
Nature Communications

Volume: 8, P: 1-11
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

A large meta-analysis combining genome-wide and custom high-density genotyping array data identifies 63 new susceptibility loci for prostate cancer, enhancing fine-mapping efforts and providing insights into the underlying biology.

Fredrick R. Schumacher
Ali Amin Al Olama
Rosalind A. Eeles
Research11 Jun 2018
Nature Genetics

Volume: 50, P: 928-936
Association analyses identify 31 new risk loci for colorectal cancer susceptibility

In colorectal cancer (CRC), finding loci associated with risk may give insight into disease aetiology. Here, the authors report a genome-wide association analysis in Europeans of 34,627 CRC cases and 71,379 controls, and find 31 new risk loci and 17 new risk SNPs at previously reported loci.

Philip J. Law
Maria Timofeeva
Malcolm G. Dunlop
ResearchOpen Access14 May 2019
Nature Communications

Volume: 10, P: 1-15
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
Amendments and Corrections25 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1462-1465
The acute effects of adjuvant radiation and chemotherapy on peripheral blood epigenetic age in early stage breast cancer patients

Mary E. Sehl
Judith E. Carroll
Julienne E. Bower
ResearchOpen Access12 Jun 2020
npj Breast Cancer

Volume: 6, P: 1-5
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Michel Georges and colleagues identify a founder mutation in CCDC39 associated with primary ciliary dyskinesia in Old English Sheepdogs. They further show that mutations in human CCDC39 cause a similar phenotype and that CCDC39 is required for the assembly of inner dynein arms and the dynein regulatory complex.

Anne-Christine Merveille
Erica E Davis
Serge Amselem
Research05 Dec 2010
Nature Genetics

Volume: 43, P: 72-78
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

Rebecca Burdine and colleagues show that CCDC40 is required for motile cilia function and correct left-right patterning in mouse, zebrafish and humans. Their findings highlight an essential role for CCDC40 in the assembly of inner dynein arms and dynein regulatory complexes.

Anita Becker-Heck
Irene E Zohn
Rebecca D Burdine
Research05 Dec 2010
Nature Genetics

Volume: 43, P: 79-84
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Ana Töpf
Angela Pyle
Rita Horvath
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1348-1353
Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

David V. Conti
Burcu F. Darst
Christopher A. Haiman
Amendments and Corrections20 Jan 2021
Nature Genetics

Volume: 53, P: 413
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
Amendments and Corrections13 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1459-1461
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Sunitha Balaraju
Ana Töpf
Hanns Lochmüller
ResearchOpen Access16 Sept 2019
European Journal of Human Genetics

Volume: 28, P: 373-377
Epidemiology of 7375 children and adolescents hospitalized with COVID-19 in Germany, reported via a prospective, nationwide surveillance study in 2020–2022

Maren Doenhardt
Markus Hufnagel
Ulrich Zügge
ResearchOpen Access02 Jan 2024
Scientific Reports

Volume: 14, P: 1-15
Molecular imaging of bacterial outer membrane vesicles based on bacterial surface display

Dávid Szöllősi
Polett Hajdrik
Krisztián Szigeti
ResearchOpen Access31 Oct 2023
Scientific Reports

Volume: 13, P: 1-14
Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry

Marco Matejcic
Edward J. Saunders
Christopher A. Haiman
Amendments and CorrectionsOpen Access17 Jan 2019
Nature Communications

Volume: 10, P: 1-5
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes
Matti A. Rookus
Antonis C. Antoniou
ResearchOpen Access15 Jul 2020
Genetics in Medicine

Volume: 22, P: 1653-1666
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov
Burcu Yaldiz
Steven Laurie
ResearchOpen Access26 Oct 2024
npj Genomic Medicine

Volume: 9, P: 1-24
Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
ReviewsOpen Access10 May 2021
European Journal of Human Genetics

Volume: 29, P: 1332-1336
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
ReviewsOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1325-1331

Search

A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer

Epigenetic clocks in relapse after a first episode of schizophrenia

Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

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

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

Germline variation at 8q24 and prostate cancer risk in men of European ancestry

Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

p53 nuclear accumulation as an early indicator of lethal prostate cancer

Immune resilience despite inflammatory stress promotes longevity and favorable health outcomes including resistance to infection

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

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

Childhood functional abdominal pain: mechanisms and management

Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

The acute effects of adjuvant radiation and chemotherapy on peripheral blood epigenetic age in early stage breast cancer patients

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Epidemiology of 7375 children and adolescents hospitalized with COVID-19 in Germany, reported via a prospective, nationwide surveillance study in 2020–2022

Molecular imaging of bacterial outer membrane vesicles based on bacterial surface display

Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

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