List of works by Päivi Pajukanta

768: Exome sequencing in hyperemesis gravidarum reveals association with stress-induced calcium channel (RYR2)

scientific article published in January 2016

A candidate gene study in low HDL-cholesterol families provides evidence for the involvement of the APOA2 gene and the APOA1C3A4 gene cluster

scientific article

A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context

scientific article published on 21 October 2019

A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.

scientific article published on 09 October 2009

A novel nonsense apolipoprotein A-I mutation (apoA-I(E136X)) causes low HDL cholesterol in French Canadians

scientific article

A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia

scientific article published on 11 September 2009

A treasure trove for lipoprotein biology

scientific article published in February 2008

ASElux: An Ultra-Fast and Accurate Allelic Reads Counter

scientific article published on 23 November 2017

Accurate estimation of cell composition in bulk expression through robust integration of single-cell information

scientific article published on 24 April 2020

Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences

scientific article published on 11 September 2020

Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits

scientific article published on 26 September 2019

Adipose co-expression networks across Finns and Mexicans identify novel triglyceride-associated genes

scientific article

Amerindian-specific regions under positive selection harbour new lipid variants in Latinos

scientific article

An integrated, ontology-driven approach to constructing observational databases for research

scientific article

Association of ketone body levels with hyperglycemia and type 2 diabetes in 9,398 Finnish men.

scientific article published on 04 April 2013

Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia

scientific article

Association of the APOLIPOPROTEIN A1/C3/A4/A5 gene cluster with triglyceride levels and LDL particle size in familial combined hyperlipidemia

scientific article published on 4 March 2004

Association testing in a linked region using large pedigrees

scientific article

Author Correction: Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS

scientific article published in Nature Communications

Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution

scientific article published on 01 December 2019

Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q

scientific article

Common hepatic nuclear factor-4alpha variants are associated with high serum lipid levels and the metabolic syndrome

scientific article published on July 2006

Cross-species analyses implicate Lipin 1 involvement in human glucose metabolism

scientific article

Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?

scientific article

Efficient Estimation and Applications of Cross-Validated Genetic Predictions to Polygenic Risk Scores and Linear Mixed Models

scientific article published on 20 February 2020

Efficient estimation and applications of cross-validated genetic predictions

Enhancing droplet-based single-nucleus RNA-seq resolution using the semi-supervised machine learning classifier DIEM

scientific article published on 03 July 2020

Estimating ethnic admixture from pedigree data.

scientific article

Evidence for a gene influencing high-density lipoprotein cholesterol on chromosome 4q31.21.

scientific article published in December 2005

Evidence of how rs7575840 influences apolipoprotein B-containing lipid particles

scientific article

Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family

scientific article

Factors associated with postprandial lipemia and apolipoprotein A-V levels in individuals with familial combined hyperlipidemia

scientific article

Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1.

scientific article published on 23 June 2005

Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

scientific article published on 29 February 2004

Familial combined hyperlipidemia: upstream transcription factor 1 and beyond

scientific article

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.

scientific article

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

scientific article

Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family

scientific article published on 22 July 2017

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

scientific article

GENOMICS AND SYSTEMS BIOLOGY APPROACHES IN THE STUDY OF LIPID DISORDERS

scientific article published on 01 January 2018

Galanin preproprotein is associated with elevated plasma triglycerides

scientific article

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

scientific article

Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2).

scientific article published on 20 September 2016

Genetic and environmental determinants of the susceptibility of Amerindian derived populations for having hypertriglyceridemia

scientific article

Genetic and environmental perturbations lead to regulatory decoherence

scientific article published on 05 March 2019

Genetic causes of high and low serum HDL-cholesterol

scientific article

Genetic influences contributing to LDL particle size in familial combined hyperlipidaemia

scientific article published in September 2002

Genetic variation at the proprotein convertase subtilisin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels

scientific article

Genetics of atherosclerosis

scientific article published in January 2004

Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families

scientific article published on 12 March 2002

Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci

scientific article published on 15 March 2013

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

scientific article

Hyperglycemia and a common variant of GCKR are associated with the levels of eight amino acids in 9,369 Finnish men

scientific article

Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes

scientific article published on 02 August 2021

Identification of two common variants contributing to serum apolipoprotein B levels in Mexicans

scientific article

Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS.

scientific article

Integrative approaches for large-scale transcriptome-wide association studies

scientific article published on 8 February 2016

Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples

scientific article

Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia

scientific article published in May 2002

Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia

scientific article published on 16 July 2004

Merging microsatellite data: enhanced methodology and software to combine genotype data for linkage and association analysis

scientific article

Molecular Characterization of the Lipid Genome-Wide Association Study Signal on Chromosome 18q11.2 Implicates HNF4A-Mediated Regulation of the TMEM241 Gene

scientific article published on 19 May 2016

Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia

scientific journal article

Novel Lipid Long Intervening Noncoding RNA, Oligodendrocyte Maturation-Associated Long Intergenic Noncoding RNA, Regulates the Liver Steatosis Gene Stearoyl-Coenzyme A Desaturase As an Enhancer RNA

scientific article published on 14 August 2019

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits

article

Publisher Correction: Accurate estimation of cell composition in bulk expression through robust integration of single-cell information

scientific article published on 03 June 2020

Publisher Correction: RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice

scientific article published on 08 October 2020

RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice

scientific article published on 28 September 2020

Regulation of alternative splicing in human obesity loci

scientific article

Remote Ischemic Conditioning Alters Methylation and Expression of Cell Cycle Genes in Aneurysmal Subarachnoid Hemorrhage.

scientific article

Reverse GWAS: Using genetics to identify and model phenotypic subtypes

article

Reverse gene-environment interaction approach to identify variants influencing body-mass index in humans

scientific article published on 14 June 2019

Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies

scientific article

Serum aromatic and branched-chain amino acids associated with NASH demonstrate divergent associations with serum lipids

scientific article published on 20 November 2020

The ATF6-Met[67]Val substitution is associated with increased plasma cholesterol levels

scientific article published on 10 August 2009

The Contribution of GWAS Loci in Familial Dyslipidemias

scientific article

The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases

scientific article published on 24 January 2017

The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans

scientific article

The SLC6A14 gene shows evidence of association with obesity

scientific article

The WWOX gene modulates high-density lipoprotein and lipid metabolism

scientific article

The causal effect of obesity on prediabetes and insulin resistance reveals the important role of adipose tissue in insulin resistance

scientific article published on 14 September 2020

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

scientific article

Transgenic expression and genetic variation of Lmf1 affect LPL activity in mice and humans

scientific article published on 16 February 2012

USF1 and dyslipidemias: converging evidence for a functional intronic variant

scientific article published on 2 August 2005

USF1 contributes to high serum lipid levels in Dutch FCHL families and U.S. whites with coronary artery disease

scientific article published on 02 August 2007

Unraveling the complex genetics of familial combined hyperlipidemia

scientific article published on January 2006

Upstream transcription factor 1 influences plasma lipid and metabolic traits in mice

scientific article

WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels

scientific article published on August 2008

[Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society]

scientific article published in March 2015

Paulina is supported by:

About Paulina

Help