Nature Search

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

To comprehend the genetic regulatory mechanisms underlying brain-related traits in humans, Qi et al. estimate the correlation of expression and DNA methylation QTL effects in cis between blood and brain and show that using blood eQTL/mQTL data of large sample size can increase power in gene discovery for brain-related traits and diseases.

Ting Qi
Yang Wu
Jian Yang
ResearchOpen Access11 Jun 2018
Nature Communications

Volume: 9, P: 1-12
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes

GWAS have so far identified 129 loci associated with type 2 diabetes (T2D). Here, the authors meta-analyse three large T2D GWA studies which uncovers 42 additional loci, further prioritize 33 functional genes using eQTL and mQTL data and propose regulatory mechanisms for three putative T2D genes.

Angli Xue
Yang Wu
Jian Yang
ResearchOpen Access27 Jul 2018
Nature Communications

Volume: 9, P: 1-14
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

Gene discovery and polygenic predictions from a genome-wide association study of educational attainment in 1.1 million individuals.

James J. Lee
Robbee Wedow
David Cesarini
Research23 Jul 2018
Nature Genetics

Volume: 50, P: 1112-1121
Saliva IgM and IgA Are a Sensitive Indicator of the Humoral Immune Response to Escherichia coli O157 Lipopolysaccharide in Children with Enteropathic Hemolytic Uremic Syndrome

Kerstin Ludwig
Enke Grabhorn
Dirk E Müller-Wiefel
Research01 Aug 2002
Pediatric Research

Volume: 52, P: 307-313
The Factors involved in Systemic Oxalosis in Patients with Primary Hyperoxaluria Type I (PH I 1813

Bernd Hoppe
Markus J Kemper
Craig B Langman
Research01 Apr 1998
Pediatric Research

Volume: 43, P: 309
Upregulation of Soluble Transferrin Receptor (sTFR) in Relapsing Idiopathic Nephrotic Syndrome (INS) 126

Markus J Kemper
Anthony B Bello
Dirk E Müller-Wiefel
Research01 Sept 1996
Pediatric Research

Volume: 40, P: 536
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A Sayer
Edgar A Otto
Friedhelm Hildebrandt
Research07 May 2006
Nature Genetics

Volume: 38, P: 674-681
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Friedhelm Hildebrandt and colleagues identify mutations in NUP93, NUP205 or XPO5 in patients with steroid-resistant nephrotic syndrome. They show that NUP93 and XPO5 interact with SMAD4 and that NUP93 mutations interfere with BMP7-SMAD4 signaling in podocytes.

Daniela A Braun
Carolin E Sadowski
Friedhelm Hildebrandt
Research15 Feb 2016
Nature Genetics

Volume: 48, P: 457-465
Hepatitis B virus genome replication triggers toll-like receptor 3-dependent interferon responses in the absence of hepatitis B surface antigen

Catherine Isabell Real
Mengji Lu
Ruth Broering
ResearchOpen Access28 Apr 2016
Scientific Reports

Volume: 6, P: 1-12
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

Bodo B Beck
Anne Baasner
Bernd Hoppe
Research11 Jul 2012
European Journal of Human Genetics

Volume: 21, P: 162-172

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Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

Saliva IgM and IgA Are a Sensitive Indicator of the Humoral Immune Response to Escherichia coli O157 Lipopolysaccharide in Children with Enteropathic Hemolytic Uremic Syndrome

The Factors involved in Systemic Oxalosis in Patients with Primary Hyperoxaluria Type I (PH I 1813

Upregulation of Soluble Transferrin Receptor (sTFR) in Relapsing Idiopathic Nephrotic Syndrome (INS) 126

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Hepatitis B virus genome replication triggers toll-like receptor 3-dependent interferon responses in the absence of hepatitis B surface antigen

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

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