Nature Search

Sources of particulate-matter air pollution and its oxidative potential in Europe

Observations and air-quality modelling reveal that the sources of particulate matter and oxidative potential in Europe are different, implying that reducing mass concentrations of particulate matter alone may not reduce oxidative potential.

Kaspar R. Daellenbach
Gaëlle Uzu
André S. H. Prévôt
Research18 Nov 2020
Nature

Volume: 587, P: 414-419
IL-21 and TGF-β are required for differentiation of human T_H17 cells

The T_H17 pathway is thought to contribute to the pathogenesis of a number of human autoimmune diseases. This study examines which cytokines are required for the production of IL-17A by memory and naive human CD4⁺ T cells.

Li Yang
David E. Anderson
David A. Hafler
Research01 Jul 2008
Nature

Volume: 454, P: 350-352
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing

This isoform-centric microglia genomic atlas includes 35,879 novel human microglia isoforms identified by long-read RNA sequencing. A multi-ancestry quantitative trait locus meta-analysis of known and novel isoforms in 555 samples from 391 donors finds associations with genetic risk loci in Alzheimer’s and Parkinson’s diseases.

Jack Humphrey
Erica Brophy
Towfique Raj
Research03 Mar 2025
Nature Genetics

Volume: 57, P: 604-615
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Genome-wide association analyses of 41,917 bipolar disorder cases and 371,549 controls of European ancestry provide new insights into the etiology of this disorder and identify novel therapeutic leads and potential opportunities for drug repurposing.

Niamh Mullins
Andreas J. Forstner
Ole A. Andreassen
Research17 May 2021
Nature Genetics

Volume: 53, P: 817-829
Rate of mass loss from the Greenland Ice Sheet will exceed Holocene values this century

Rates of ice-mass loss from southwestern Greenland this century will exceed the maximum rate over the past 12,000 years, and would not be the result of natural variation.

Jason P. Briner
Joshua K. Cuzzone
Sophie Nowicki
Research30 Sept 2020
Nature

Volume: 586, P: 70-74
New insights into the genetic etiology of Alzheimer’s disease and related dementias

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Céline Bellenguez
Fahri Küçükali
Jean-Charles Lambert
ResearchOpen Access04 Apr 2022
Nature Genetics

Volume: 54, P: 412-436
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly of a subset of inner arm dyneins.

Chiara Olcese
Mitali P. Patel
Hannah M. Mitchison
ResearchOpen Access08 Feb 2017
Nature Communications

Volume: 8, P: 1-15
Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies

Transcriptomic analyses of 255 primary human microglial samples from 100 individuals highlight brain region, age, sex and disease states as sources of microglial heterogeneity. Molecular quantitative trait locus analyses implicate variants involved in neurological diseases through effects on gene expression and splicing.

Katia de Paiva Lopes
Gijsje J. L. Snijders
Towfique Raj
Research06 Jan 2022
Nature Genetics

Volume: 54, P: 4-17
Dysregulation of mitochondrial and proteolysosomal genes in Parkinson’s disease myeloid cells

As part of Myeloid Cells in Neurodegenerative Disease (MyND) initiative, the authors profiled the transcriptome of primary monocytes and microglia from patients with Parkinson’s disease and controls, revealing the pathways and genes that are altered in the immune system of patients with Parkinson’s disease.

Elisa Navarro
Evan Udine
Towfique Raj
Research14 Sept 2021
Nature Aging

Volume: 1, P: 850-863
High rates of marine organic carbon burial on the southwest Greenland margin induced by Neoglacial advances

Organic carbon burial in a deep basin on the southwest Greenland shelf is stronger under historic glacier advance than retreat over the past 2500 years, according to analysis of a sediment core sample.

Yunfeng Wang
Yves Gélinas
Peter M. J. Douglas
ResearchOpen Access17 Jun 2024
Communications Earth & Environment

Volume: 5, P: 1-10
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud
Eric Chater-Diehl
Amélie Piton
Research03 Aug 2021
Genetics in Medicine

Volume: 23, P: 2150-2159

Search

Sources of particulate-matter air pollution and its oxidative potential in Europe

IL-21 and TGF-β are required for differentiation of human T_H17 cells

Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Rate of mass loss from the Greenland Ice Sheet will exceed Holocene values this century

New insights into the genetic etiology of Alzheimer’s disease and related dementias

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies

Dysregulation of mitochondrial and proteolysosomal genes in Parkinson’s disease myeloid cells

High rates of marine organic carbon burial on the southwest Greenland margin induced by Neoglacial advances

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

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