Nature Search

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
Tau deficiency induces parkinsonism with dementia by impairing APP-mediated iron export

Tau aggregation is associated with neurodegenerative diseases called tauopathies. Ashley Bush and colleagues now report that aged tau-deficient mice develop motor and cognitive dysfunction that is linked to elevated iron levels in the brains of the mice.

Peng Lei
Scott Ayton
Ashley I Bush
Research29 Jan 2012
Nature Medicine

Volume: 18, P: 291-295
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
Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese

An important risk factor for coronary artery disease is the level of blood lipids. Here the authors conduct an exome-wide association study in Chinese cohorts and identify three novel loci associated with lipid levels as well as three Asian-specific variants in known loci.

Clara S. Tang
He Zhang
Wei Gao
ResearchOpen Access22 Dec 2015
Nature Communications

Volume: 6, P: 1-9
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Here, the authors perform a meta-analysis in 26,699 people with seizures and 492,324 controls to identify 25 genome-wide significant copy-number variants. The discovered loci point to known disease genes and associations with clinical annotations.

Ludovica Montanucci
David Lewis-Smith
Dennis Lal
ResearchOpen Access20 Jul 2023
Nature Communications

Volume: 14, P: 1-19
HVCN1 modulates BCR signal strength via regulation of BCR-dependent generation of reactive oxygen species

Reactive oxygen species can enhance B cell antigen receptor (BCR) signaling strength. Dyer and colleagues show that the voltage-gated proton channel HVCN1 associates with BCRs and contributes to BCR signaling via the generation of reactive oxygen species.

Melania Capasso
Mandeep K Bhamrah
Martin J S Dyer
Research07 Feb 2010
Nature Immunology

Volume: 11, P: 265-272
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Epilepsies are common brain disorders and are classified based on clinical phenotyping, imaging and genetics. Here, the authors perform genome-wide association studies for 3 broad and 7 subtypes of epilepsy and identify 16 loci - 11 novel - that are further annotated by eQTL and partitioned heritability analyses.

Bassel Abou-Khalil
Pauls Auce
Fritz Zimprich
ResearchOpen Access10 Dec 2018
Nature Communications

Volume: 9, P: 1-15
Evidence for major pleiotropic effects on bone size variation from a principal component analysis of 451 Caucasian families

Li-jun Tan
Yao-zhong Liu
Hong-wen Deng
Research01 Jun 2008
Acta Pharmacologica Sinica

Volume: 29, P: 745-751

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