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Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma

Variations in expression of the gene ORMDL3 were found to be associated with development of childhood asthma, suggesting this gene should be examined in more patient groups.

Miriam F. Moffatt
Michael Kabesch
William O. C. Cookson
Research04 Jul 2007
Nature

Volume: 448, P: 470-473
Critical shifts in lipid metabolism promote megakaryocyte differentiation and proplatelet formation

de Jonckheere, Kollotzek, et al. report a quantitative proteomic and lipidomic map of different stages of megakaryopoiesis and find an anionic lipid membrane remodeling and concomitant relocalization of the CKIP-1/CK2α complex to the plasma membrane of maturing megakaryocytes, which appear to be essential for sufficient platelet biogenesis.

Bianca de Jonckheere
Ferdinand Kollotzek
Robert Ahrends
ResearchOpen Access31 Aug 2023
Nature Cardiovascular Research

Volume: 2, P: 835-852
Author Correction: Critical shifts in lipid metabolism promote megakaryocyte differentiation and proplatelet formation

Bianca de Jonckheere
Ferdinand Kollotzek
Robert Ahrends
Amendments and CorrectionsOpen Access16 Nov 2023
Nature Cardiovascular Research

Volume: 2, P: 1327
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
Positional cloning of a novel gene influencing asthma from Chromosome 2q14

Maxine Allen
Andrea Heinzmann
William O C M Cookson
Research19 Oct 2003
Nature Genetics

Volume: 35, P: 258-263
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
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

Daniel Gudbjartsson and colleagues report results of a genome-wide association study for loci influencing eosinophil counts. Follow-up studies showed that a subset of the variants identified in this screen were associated with risk of asthma or myocardial infarction.

Daniel F Gudbjartsson
Unnur S Bjornsdottir
Kari Stefansson
Research08 Feb 2009
Nature Genetics

Volume: 41, P: 342-347
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
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
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

Charlotte Niemeyer, Mignon Loh and colleagues report that germline mutations at CBL are associated with developmental abnormalities and predispose individuals to juvenile myelomonocytic leukemia.

Charlotte M Niemeyer
Michelle W Kang
Mignon L Loh
Research08 Aug 2010
Nature Genetics

Volume: 42, P: 794-800
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
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations

Dan Nicolae, Carole Ober and colleagues report a meta-analysis of genome-wide association studies for asthma in a collection of ethnically diverse North American populations. They identify a newly associated susceptibility locus at PYHIN1 in individuals of African descent.

Dara G Torgerson
Elizabeth J Ampleford
Dan L Nicolae
Research31 Jul 2011
Nature Genetics

Volume: 43, P: 887-892
A sequence variant on 17q21 is associated with age at onset and severity of asthma

Eva Halapi
Daniel F Gudbjartsson
Kari Stefansson
Research07 Apr 2010
European Journal of Human Genetics

Volume: 18, P: 902-908
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

Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma

Critical shifts in lipid metabolism promote megakaryocyte differentiation and proplatelet formation

Author Correction: Critical shifts in lipid metabolism promote megakaryocyte differentiation and proplatelet formation

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

Positional cloning of a novel gene influencing asthma from Chromosome 2q14

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

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

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

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

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

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

Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations

A sequence variant on 17q21 is associated with age at onset and severity of asthma

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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