Nature Search

Comparative neurofilament light chain trajectories in CSF and plasma in autosomal dominant Alzheimer’s disease

This study supports neurofilament light chain protein (NfL) in both cerebrospinal fluid (CSF) and blood as an early marker of neurodegeneration in Alzheimer’s disease but suggests that NfL in CSF may be better suited than blood for monitoring clinical trial outcomes in symptomatic patients.

Anna Hofmann
Lisa M. Häsler
Jinbin Xu
ResearchOpen Access18 Nov 2024
Nature Communications

Volume: 15, P: 1-10
De novo determination of mosquitocidal Cry11Aa and Cry11Ba structures from naturally-occurring nanocrystals

An environmentally safe means of mosquito control is the application of Bacillus thuringiensis israelensis, which produces a cocktail of four naturally crystalline proteins exclusively toxic to mosquito. Here the authors report the atomic-resolution structures of Bti Cry11Aa and related Btj Cry11Ba solved de novo through Serial Femtosecond Crystallography on naturally-occurring nanocrystals.

Guillaume Tetreau
Michael R. Sawaya
Jacques-Philippe Colletier
ResearchOpen Access28 Jul 2022
Nature Communications

Volume: 13, P: 1-18
Effects of psoriasis and psoralen exposure on the somatic mutation landscape of the skin

Analysis of the somatic mutations landscape of 111 patients with psoriasis vulgaris shows that the disease is unlikely to be driven by clonal expansions caused by somatic mutations in keratinocytes. A mutational footprint associated with psoralen treatment was observed and characterized.

Sigurgeir Olafsson
Elke Rodriguez
Carl A. Anderson
ResearchOpen Access26 Oct 2023
Nature Genetics

Volume: 55, P: 1892-1900
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation

The genetic basis of atopic dermatitis is not fully understood. Here, the authors find 91 genetic loci associated with atopic dermatitis in a GWAS of >1million individuals, which highlight the importance of systemic immune regulation.

Ashley Budu-Aggrey
Anna Kilanowski
Lavinia Paternoster
ResearchOpen Access04 Oct 2023
Nature Communications

Volume: 14, P: 1-18
Host genetic factors related to innate immunity, environmental sensing and cellular functions are associated with human skin microbiota

Microbiome composition is influenced by genetics, although the specific host genetic factors responsible are not well known. Here, the authors performed a genome-wide meta-analysis to discover host genetic effects on skin microbiota and finding potential causal effects of microbiota composition on skin diseases.

Lucas Moitinho-Silva
Frauke Degenhardt
Malte Christoph Rühlemann
ResearchOpen Access19 Oct 2022
Nature Communications

Volume: 13, P: 1-12
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
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

Genetic studies of eczema to date have mostly explored common genetic variation. Here, the authors perform a large meta-analysis for common and rare variants and discover 8 loci associated with eczema. Over 20% of the heritability of the condition is attributable to rare variants.

Sarah Grosche
Ingo Marenholz
Young-Ae Lee
ResearchOpen Access16 Nov 2021
Nature Communications

Volume: 12, P: 1-11
2,4-dienoyl-CoA reductase regulates lipid homeostasis in treatment-resistant prostate cancer

Androgen receptor (AR) signalling regulates cellular metabolism in prostate cancer. Here, the authors perform a proteomics and metabolomics characterisation of prostate cancer cells adapted to long-term resistance to AR inhibition and show rewiring of glucose and lipid metabolism, and further identify a signature associated with resistance to AR inhibition.

Arnaud Blomme
Catriona A. Ford
Hing Y. Leung
ResearchOpen Access19 May 2020
Nature Communications

Volume: 11, P: 1-17
The WT1-like transcription factor Klumpfuss maintains lineage commitment of enterocyte progenitors in the Drosophila intestine

Notch signaling mediates intestinal enteroblast specification in Drosophila but the molecular mechanism as to how this is regulated is unclear. Here, the authors show that the transcription factor Klumpfuss ensures enteroblast commitment through repression of enteroendocrine cell fate downstream of Notch.

Jerome Korzelius
Sina Azami
Heinrich Jasper
ResearchOpen Access11 Sept 2019
Nature Communications

Volume: 10, P: 1-13
Meta-analysis identifies seven susceptibility loci involved in the atopic march

The development of asthma following eczema is known as the atopic march. Here the authors conduct a GWAS on affected children and identify two novel loci associated with the disease phenotype.

Ingo Marenholz
Jorge Esparza-Gordillo
Young Ae Lee
ResearchOpen Access06 Nov 2015
Nature Communications

Volume: 6, P: 1-8
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
PLACENTAL ABNORMALITIES ASSOCIATED WITH CYSTIC PERIVENTRICULAR LEUKOMALACIA IN PREMATURE NEWBORNS. • 2265

Estela Rodriguez
J. Fergal Magee
Alan Hill
Research01 Apr 1996
Pediatric Research

Volume: 39, P: 380
Parenchymal border macrophages regulate the flow dynamics of the cerebrospinal fluid

Perivascular and leptomeningeal macrophages, collectively termed here parenchymal border macrophages, are shown to regulate flow dynamics of cerebrospinal fluid, implicating this cell population as new therapeutic targets in neurological diseases such as Alzheimer’s.

Antoine Drieu
Siling Du
Jonathan Kipnis
Research09 Nov 2022
Nature

Volume: 611, P: 585-593
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
Co-designing inclusive excellence in higher education: Students’ and teachers’ perspectives on the ideal online learning environment using the I-TPACK model

Liesbet Saenen
Katrien Hermans
Elke Emmers
ResearchOpen Access06 Jul 2024
Humanities and Social Sciences Communications

Volume: 11, P: 1-12
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

Lavinia Paternoster and colleagues report a meta-analysis of genome-wide association studies of atopic dermatitis. They report three newly identified associated loci near OVOL1 and ACTL9 and in KIF3A.

Lavinia Paternoster
Marie Standl
Stephan Weidinger
Research25 Dec 2011
Nature Genetics

Volume: 44, P: 187-192
A US perspective on closing the carbon cycle to defossilize difficult-to-electrify segments of our economy

To achieve net-zero carbon emissions, we must close the carbon cycle for industries that are difficult to electrify. Developing the needed science to provide carbon alternatives and non-fossil carbon will accelerate advances towards defossilization.

Wendy J. Shaw
Michelle K. Kidder
Krista S. Walton
Reviews01 May 2024
Nature Reviews Chemistry

Volume: 8, P: 376-400
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology

This large-scale genome-wide association analysis of subjects with asthma, hay fever or eczema provides insights into the shared genetic basis of these allergic diseases. The findings suggest that these diseases partly co-occur because they share many genetic risk variants that dysregulate the expression of immune-related genes.

Manuel A Ferreira
Judith M Vonk
Lavinia Paternoster
Research30 Oct 2017
Nature Genetics

Volume: 49, P: 1752-1757
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
High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

Andre Franke and colleagues perform an association study of atopic dermatitis based on high-density genotyping using the Immunochip array. They identify four new susceptibility loci for this common inflammatory skin disease.

David Ellinghaus
Hansjörg Baurecht
Stephan Weidinger
Research02 Jun 2013
Nature Genetics

Volume: 45, P: 808-812
A common variant on chromosome 11q13 is associated with atopic dermatitis

Young-Ae Lee and colleagues report results of a genome-wide association study for atopic dermatitis. They identify a risk locus on chromosome 11q13 in a region previously associated with risk of Crohn's disease.

Jorge Esparza-Gordillo
Stephan Weidinger
Andreas Ruether
Research06 Apr 2009
Nature Genetics

Volume: 41, P: 596-601
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Lavinia Paternoster and colleagues report the results of a large, multi-ancestry genome-wide association study of atopic dermatitis. They identify ten new susceptibility loci harboring candidate genes involved in innate host defense and T cell function.

Lavinia Paternoster
Marie Standl
Stephan Weidinger
Research19 Oct 2015
Nature Genetics

Volume: 47, P: 1449-1456
miRNA expression profiles of the perilesional skin of atopic dermatitis and psoriasis patients are highly similar

Gemma Carreras-Badosa
Julia Maslovskaja
Ana Rebane
ResearchOpen Access31 Dec 2022
Scientific Reports

Volume: 12, P: 1-11
Two truncating variants in FANCC and breast cancer risk

Thilo Dörk
Paolo Peterlongo
Douglas F. Easton
ResearchOpen Access29 Aug 2019
Scientific Reports

Volume: 9, P: 1-14
Claudin-1 decrease impacts epidermal barrier function in atopic dermatitis lesions dose-dependently

Sophia Bergmann
Barbara von Buenau
Johanna M. Brandner
ResearchOpen Access06 Feb 2020
Scientific Reports

Volume: 10, P: 1-12
Methylglyoxal down-regulates the expression of cell cycle associated genes and activates the p53 pathway in human umbilical vein endothelial cells

Jana D. Braun
Diego O. Pastene
Thomas Albrecht
ResearchOpen Access04 Feb 2019
Scientific Reports

Volume: 9, P: 1-14
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Mev Dominguez-Valentin
Emma J. Crosbie
Pål Møller
ResearchOpen Access01 Dec 2020
Genetics in Medicine

Volume: 23, P: 705-712
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Mev Dominguez-Valentin
Julian R. Sampson
Pål Møller
ResearchOpen Access24 Jul 2019
Genetics in Medicine

Volume: 22, P: 15-25
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
SASH1: a candidate tumor suppressor gene on chromosome 6q24.3 is downregulated in breast cancer

Constanze Zeller
Bernd Hinzmann
Siegfried Scherneck
Research15 May 2003
Oncogene

Volume: 22, P: 2972-2983
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
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
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Kathrin Burgmaier
Samuel Kilian
Hulya Nalcacioglu
ResearchOpen Access04 Nov 2021
Scientific Reports

Volume: 11, P: 1-10

Search

Comparative neurofilament light chain trajectories in CSF and plasma in autosomal dominant Alzheimer’s disease

De novo determination of mosquitocidal Cry11Aa and Cry11Ba structures from naturally-occurring nanocrystals

Effects of psoriasis and psoralen exposure on the somatic mutation landscape of the skin

European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation

Host genetic factors related to innate immunity, environmental sensing and cellular functions are associated with human skin microbiota

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

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

2,4-dienoyl-CoA reductase regulates lipid homeostasis in treatment-resistant prostate cancer

The WT1-like transcription factor Klumpfuss maintains lineage commitment of enterocyte progenitors in the Drosophila intestine

Meta-analysis identifies seven susceptibility loci involved in the atopic march

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

PLACENTAL ABNORMALITIES ASSOCIATED WITH CYSTIC PERIVENTRICULAR LEUKOMALACIA IN PREMATURE NEWBORNS. • 2265

Parenchymal border macrophages regulate the flow dynamics of the cerebrospinal fluid

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

Co-designing inclusive excellence in higher education: Students’ and teachers’ perspectives on the ideal online learning environment using the I-TPACK model

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

A US perspective on closing the carbon cycle to defossilize difficult-to-electrify segments of our economy

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology

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

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

A common variant on chromosome 11q13 is associated with atopic dermatitis

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

miRNA expression profiles of the perilesional skin of atopic dermatitis and psoriasis patients are highly similar

Two truncating variants in FANCC and breast cancer risk

Claudin-1 decrease impacts epidermal barrier function in atopic dermatitis lesions dose-dependently

Methylglyoxal down-regulates the expression of cell cycle associated genes and activates the p53 pathway in human umbilical vein endothelial cells

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

SASH1: a candidate tumor suppressor gene on chromosome 6q24.3 is downregulated in breast cancer

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

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

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