List of works - Helena Kuivaniemi

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

article

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

scientific article (publication date: October 2013)

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Human spontaneous labor without histologic chorioamnionitis is characterized by an acute inflammation gene expression signature

scientific article published on August 2006

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study

scientific article published on 23 February 2017

Toll-like receptor-2 and -4 in the chorioamniotic membranes in spontaneous labor at term and in preterm parturition that are associated with chorioamnionitis

scientific article published on October 2004

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

scientific journal article

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

scientific article

Aortic aneurysms: an immune disease with a strong genetic component

scientific article

First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

article

Familial intracranial aneurysms

scientific article published in The Lancet

Bacterial vaginosis, the inflammatory response and the risk of preterm birth: a role for genetic epidemiology in the prevention of preterm birth

scientific article published in June 2004

A single nucleotide polymorphism in the matrix metalloproteinase-1 (MMP-1) promoter influences amnion cell MMP-1 expression and risk for preterm premature rupture of the fetal membranes.

scientific article published on 11 December 2001

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms

scientific article published on 16 July 2007

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

scientific article published in August 2012

A polymorphism in the matrix metalloproteinase-9 promoter is associated with increased risk of preterm premature rupture of membranes in African Americans.

scientific article published in May 2002

Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation

scientific article

Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM).

scientific article

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms

scientific article

Pathogenesis of abdominal aortic aneurysms: a multidisciplinary research program supported by the National Heart, Lung, and Blood Institute

scientific article published in October 2001

Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen

scientific article published on August 1988

eMERGEing progress in genomics-the first seven years

scientific article

Imputation and quality control steps for combining multiple genome-wide datasets

scientific article

Klf15 deficiency is a molecular link between heart failure and aortic aneurysm formation

scientific article

Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes

scientific article published on 14 December 2006

CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy

scientific article

Genome Scan for Familial Abdominal Aortic Aneurysm Using Sex and Family History as Covariates Suggests Genetic Heterogeneity and Identifies Linkage to Chromosome 19q13

article published in 2004

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy

scientific article

Macrophage migration inhibitory factor in patients with preterm parturition and microbial invasion of the amniotic cavity

scientific article

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm

scientific article published on 27 March 2013

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

scientific article published on September 1989

A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans.

scholarly article

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

scientific article published on March 1982

Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms

scientific article (publication date: 19 November 1999)

Understanding the pathogenesis of abdominal aortic aneurysms

scientific article (publication date: 2015)

Quantitative polymerase chain reaction of lysyl oxidase mRNA in malignantly transformed human cell lines demonstrates that their low lysyl oxidase activity is due to low quantities of its mRNA and low levels of transcription of the respective gene.

scientific article

Search for intracranial aneurysm susceptibility gene(s) using Finnish families

scientific article

The design, execution, and interpretation of genetic association studies to decipher complex diseases.

scientific article

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

scientific article

Molecular basis and genetic predisposition to intracranial aneurysm

scientific article published on 12 August 2014

Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndrome

scientific article published on December 20, 1983

The role of complement Factor H in age-related macular degeneration: a review.

scientific article published on May 2010

Familial abdominal aortic aneurysms: Collection of 233 multiplex families

article

Deficient production of lysyl oxidase in cultures of malignantly transformed human cells

scientific article published in January 1986

Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3.

scientific article

MicroRNA expression signature in human abdominal aortic aneurysms

scientific article

Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms

scientific article

Inhibition of Notch1 signaling reduces abdominal aortic aneurysm in mice by attenuating macrophage-mediated inflammation

scientific article published on 18 October 2012

Genes and abdominal aortic aneurysm

scientific article

List of works by Helena Kuivaniemi

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

Rare and low-frequency coding variants alter human adult height

Human spontaneous labor without histologic chorioamnionitis is characterized by an acute inflammation gene expression signature

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study

Toll-like receptor-2 and -4 in the chorioamniotic membranes in spontaneous labor at term and in preterm parturition that are associated with chorioamnionitis

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

Aortic aneurysms: an immune disease with a strong genetic component

First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

Familial intracranial aneurysms

Bacterial vaginosis, the inflammatory response and the risk of preterm birth: a role for genetic epidemiology in the prevention of preterm birth

A single nucleotide polymorphism in the matrix metalloproteinase-1 (MMP-1) promoter influences amnion cell MMP-1 expression and risk for preterm premature rupture of the fetal membranes.

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

A polymorphism in the matrix metalloproteinase-9 promoter is associated with increased risk of preterm premature rupture of membranes in African Americans.

Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation

Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM).

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms

Pathogenesis of abdominal aortic aneurysms: a multidisciplinary research program supported by the National Heart, Lung, and Blood Institute

Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen

eMERGEing progress in genomics-the first seven years

Imputation and quality control steps for combining multiple genome-wide datasets

Klf15 deficiency is a molecular link between heart failure and aortic aneurysm formation

Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes

CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy

Genome Scan for Familial Abdominal Aortic Aneurysm Using Sex and Family History as Covariates Suggests Genetic Heterogeneity and Identifies Linkage to Chromosome 19q13

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy

Macrophage migration inhibitory factor in patients with preterm parturition and microbial invasion of the amniotic cavity

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans.

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms

Understanding the pathogenesis of abdominal aortic aneurysms

Quantitative polymerase chain reaction of lysyl oxidase mRNA in malignantly transformed human cell lines demonstrates that their low lysyl oxidase activity is due to low quantities of its mRNA and low levels of transcription of the respective gene.

Search for intracranial aneurysm susceptibility gene(s) using Finnish families

The design, execution, and interpretation of genetic association studies to decipher complex diseases.

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

Molecular basis and genetic predisposition to intracranial aneurysm

Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndrome

The role of complement Factor H in age-related macular degeneration: a review.

Familial abdominal aortic aneurysms: Collection of 233 multiplex families

Deficient production of lysyl oxidase in cultures of malignantly transformed human cells

Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3.

MicroRNA expression signature in human abdominal aortic aneurysms

Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms

Inhibition of Notch1 signaling reduces abdominal aortic aneurysm in mice by attenuating macrophage-mediated inflammation

Genes and abdominal aortic aneurysm