Helena Kuivaniemi

Summary

Affiliation: Geisinger Medical Center
Country: USA

Publications

  1. pmc MicroRNA expression signature in human abdominal aortic aneurysms
    Matthew C Pahl
    The Sigfried and Janet Weis Center for Research, Geisinger Clinic, 100 North Academy Avenue, Pennsylvania 17822 2610, USA
    BMC Med Genomics 5:25. 2012
  2. doi request reprint Opportunities in abdominal aortic aneurysm research: epidemiology, genetics, and pathophysiology
    Helena Kuivaniemi
    Department of Vascular and Endovascular Surgery, The Sigfried and Janet Weis Center for Research, Geisinger Clinic, Danville, PA 17822 2610, USA
    Ann Vasc Surg 26:862-70. 2012
  3. pmc Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19
    John H Lillvis
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    BMC Med Genet 12:14. 2011
  4. ncbi request reprint HLA-DQA is associated with abdominal aortic aneurysms in the Belgian population
    Gerard Tromp
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 3317 Gordon H Scott Hall of Basic Medical Sciences, 540 E Canfield Ave, Detroit, MI 48201, USA
    Ann N Y Acad Sci 1085:392-5. 2006
  5. ncbi request reprint Association of kallikrein gene polymorphisms with intracranial aneurysms
    Shantel Weinsheimer
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 3309 Gordon H Scott Hall of Basic Medical Sciences, 540 East Canfield Avenue, Detroit, MI 48201, USA
    Stroke 38:2670-6. 2007
  6. pmc Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms
    Toru Ogata
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    J Vasc Surg 41:1036-42. 2005
  7. ncbi request reprint Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy
    Jayne S Weiss
    Kresge Eye Institute, The Department of Ophthalmology, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Invest Ophthalmol Vis Sci 48:5007-12. 2007
  8. ncbi request reprint Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm
    Shantel Weinsheimer
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Physiol Genomics 32:45-57. 2007
  9. pmc Binding sites for ETS family of transcription factors dominate the promoter regions of differentially expressed genes in abdominal aortic aneurysms
    Jennifer Nischan
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    Circ Cardiovasc Genet 2:565-72. 2009
  10. pmc Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study
    Toru Ogata
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    BMC Med Genet 7:67. 2006

Research Grants

  1. GENETIC FACTORS IN ABDOMINAL AORTIC ANEURYSMS
    S KUIVANIEMI; Fiscal Year: 2002
  2. GENETIC FACTORS IN ABDOMINAL AORTIC ANEURYSMS
    S KUIVANIEMI; Fiscal Year: 2006

Collaborators

Detail Information

Publications35

  1. pmc MicroRNA expression signature in human abdominal aortic aneurysms
    Matthew C Pahl
    The Sigfried and Janet Weis Center for Research, Geisinger Clinic, 100 North Academy Avenue, Pennsylvania 17822 2610, USA
    BMC Med Genomics 5:25. 2012
    ..MicroRNAs (miRNAs), small non-coding RNAs that are post-transcriptional regulators of gene expression, could provide a mechanism for the differential expression of genes in AAA...
  2. doi request reprint Opportunities in abdominal aortic aneurysm research: epidemiology, genetics, and pathophysiology
    Helena Kuivaniemi
    Department of Vascular and Endovascular Surgery, The Sigfried and Janet Weis Center for Research, Geisinger Clinic, Danville, PA 17822 2610, USA
    Ann Vasc Surg 26:862-70. 2012
    ..Abdominal aortic aneurysms were the topic of an international conference "Abdominal Aortic Aneurysm: Epidemiology, Genetics, and Pathophysiology" held recently at the Geisinger Clinic, Danville, Pennsylvania...
  3. pmc Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19
    John H Lillvis
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    BMC Med Genet 12:14. 2011
    ..This locus has been designated as the AAA1 susceptibility locus in the Online Mendelian Inheritance in Man (OMIM) database...
  4. ncbi request reprint HLA-DQA is associated with abdominal aortic aneurysms in the Belgian population
    Gerard Tromp
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 3317 Gordon H Scott Hall of Basic Medical Sciences, 540 E Canfield Ave, Detroit, MI 48201, USA
    Ann N Y Acad Sci 1085:392-5. 2006
    ..In conclusion, this study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs...
  5. ncbi request reprint Association of kallikrein gene polymorphisms with intracranial aneurysms
    Shantel Weinsheimer
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 3309 Gordon H Scott Hall of Basic Medical Sciences, 540 East Canfield Avenue, Detroit, MI 48201, USA
    Stroke 38:2670-6. 2007
    ..We investigated the association of single nucleotide polymorphisms (SNPs) in the kallikrein gene cluster with IA in the Finnish population...
  6. pmc Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms
    Toru Ogata
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    J Vasc Surg 41:1036-42. 2005
    ..Our hypothesis was that genetic variations in one or more of these genes contribute to greater or lesser activity of these gene products, and thereby contribute to susceptibility for developing AAAs...
  7. ncbi request reprint Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy
    Jayne S Weiss
    Kresge Eye Institute, The Department of Ophthalmology, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Invest Ophthalmol Vis Sci 48:5007-12. 2007
    ..Three candidate genes that may be involved in lipid metabolism and/or are expressed in the cornea were analyzed...
  8. ncbi request reprint Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm
    Shantel Weinsheimer
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Physiol Genomics 32:45-57. 2007
    ..Integration of gene expression profiles with genetic mapping data for IA provides an approach to identify candidate genes that are more likely to function in the pathology of IA...
  9. pmc Binding sites for ETS family of transcription factors dominate the promoter regions of differentially expressed genes in abdominal aortic aneurysms
    Jennifer Nischan
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    Circ Cardiovasc Genet 2:565-72. 2009
    ..As transcriptional control is responsible for these expression changes, we sought to find common transcriptional elements in the promoter regions of the differentially expressed genes...
  10. pmc Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study
    Toru Ogata
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    BMC Med Genet 7:67. 2006
    ..The aim of this study was to investigate the role of autoimmunity in the etiology of AAAs using a genetic association study approach with HLA polymorphisms...
  11. doi request reprint Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function
    Jayne S Weiss
    Kresge Eye Institute, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Am J Med Genet A 146:271-83. 2008
    ..Protein analysis revealed structural and functional implications of SCCD mutations which may affect UBIAD1 function, ligand binding and interaction with binding partners, like apo E...
  12. pmc Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3
    Monique van der Voet
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Am J Hum Genet 74:564-71. 2004
    ..3. We then estimated location by using GENEFINDER. The most likely location for a gene predisposing to IAs in the Finnish population is in a region with a 95% confidence interval of 11.6 cM (P=.00007) centered 2.0 cM proximal to D19S246...
  13. pmc Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms
    Guy M Lenk
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USA
    BMC Genomics 8:237. 2007
    ....
  14. ncbi request reprint Global expression profiles in human normal and aneurysmal abdominal aorta based on two distinct whole genome microarray platforms
    Guy M Lenk
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 3317 Gordon H Scott Hall of Basic Medical Sciences, 540 E Canfield Ave, Detroit, MI 48201, USA
    Ann N Y Acad Sci 1085:360-2. 2006
    ....
  15. ncbi request reprint Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13
    Hidenori Shibamura
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Mich 48201, USA
    Circulation 109:2103-8. 2004
    ..Genetic risk factors are likely to contribute to the development of AAAs, although no such risk factors have been identified...
  16. pmc Identification of novel functional sequence variants in the gene for peptidase inhibitor 3
    Mahboob A Chowdhury
    Center of Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USA
    BMC Med Genet 7:49. 2006
    ..To elucidate the molecular mechanisms contributing to the decreased expression in amniotic membranes, the PI3 gene was searched for sequence variations and the functional significance of the identified promoter variants was studied...
  17. pmc Role of complement cascade in abdominal aortic aneurysms
    Irene Hinterseher
    Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA 17822 2610, USA
    Arterioscler Thromb Vasc Biol 31:1653-60. 2011
    ..The goal of this study was to investigate the role of complement cascade genes in the pathobiology of human abdominal aortic aneurysms (AAAs)...
  18. pmc Genes and abdominal aortic aneurysm
    Irene Hinterseher
    Geisinger Health System, The Sigfried and Janet Weis Center for Research, 100 North Academy Avenue, Danville, PA 17822 2610, USA
    Ann Vasc Surg 25:388-412. 2011
    ..Functional studies are now needed to establish the mechanisms by which these genes contribute toward AAA pathogenesis...
  19. pmc Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms
    John H Lillvis
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    BMC Physiol 11:9. 2011
    ....
  20. pmc The lifetime prevalence of abdominal aortic aneurysms among siblings of aneurysm patients is eightfold higher than among siblings of spouses: an analysis of 187 aneurysm families in Nova Scotia, Canada
    Toru Ogata
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    J Vasc Surg 42:891-7. 2005
    ..Abdominal aortic aneurysms (AAAs) are frequently familial. The aim of this study was to compare the prevalence of AAA among the siblings of AAA patients with that in the spouses' siblings...
  21. ncbi request reprint Elevated expression of matrix metalloproteinase-13 in abdominal aortic aneurysms
    Gerard Tromp
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Ann Vasc Surg 18:414-20. 2004
    ..MMP13 was expressed in all parts of aorta and its expression was elevated in aneurysmal sac. In further studies using MMP13-specific antibody we demonstrated that MMP13 protein was present in the aneurysmal wall...
  22. ncbi request reprint Fine mapping of the Schnyder's crystalline corneal dystrophy locus
    Veena Theendakara
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Hum Genet 114:594-600. 2004
    ..32 Mbp between markers D1S1160 and D1S1635. Within this interval, identity-by-state was present in all 13 families for two markers D1S244 and D1S3153, further refining the candidate region to 1.58 Mbp...
  23. ncbi request reprint Genome-wide approach to finding abdominal aortic aneurysm susceptibility genes in humans
    Helena Kuivaniemi
    Center for Molecular Medicine and Genetics and Department of Surgery, Wayne State University School of Medicine, 3317 Gordon H Scott Hall of Basic Medical Sciences, 540 E Canfield Ave, Detroit, MI 48201, USA
    Ann N Y Acad Sci 1085:270-81. 2006
    ..These chromosomal regions contain many plausible candidate genes, and the future research will include more detailed analyses of these positional candidate genes...
  24. ncbi request reprint Community-based, nonprofit organization-sponsored ultrasonography screening program for abdominal aortic aneurysms is effective at identifying occult aneurysms
    Toru Ogata
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Ann Vasc Surg 20:312-6. 2006
    ....
  25. ncbi request reprint Basic research studies to understand aneurysm disease
    Amy M Boddy
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Drug News Perspect 21:142-8. 2008
    ....
  26. doi request reprint Novel genetic mechanisms for aortic aneurysms
    Gerard Tromp
    Sigfried and Janet Weis Center for Research, Geisinger Clinic, Danville, PA 17822 2611, USA
    Curr Atheroscler Rep 12:259-66. 2010
    ....
  27. ncbi request reprint The design, execution, and interpretation of genetic association studies to decipher complex diseases
    Roberto Romero
    Perinatology Research Branch, National Institute of Child Health and Human Development, Detroit, Mich 48201, USA
    Am J Obstet Gynecol 187:1299-312. 2002
    ..The potential value of this type of investigation in elucidating the mechanisms of disease in reproduction is illustrated...
  28. ncbi request reprint Genome-wide expression profiling of fetal membranes reveals a deficient expression of proteinase inhibitor 3 in premature rupture of membranes
    Gerard Tromp
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USA
    Am J Obstet Gynecol 191:1331-8. 2004
    ..We used a genome-wide approach to identify differentially expressed genes in patients with preterm premature rupture of membranes to improve the understanding of underlying molecular mechanisms...
  29. ncbi request reprint A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica
    Sheila P Meftah
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
    Nutrition 22:1067-70. 2006
    ..7 kb. We describe a novel mutation in a Tunisian family in which a chain termination codon in exon 3 yielded a truncated ZIP4 zinc transporter protein...
  30. doi request reprint Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association
    James R Elmore
    Department of Vascular and Endovascular Surgery, Geisinger Clinic, Danville, PA 17822 2601, USA
    J Vasc Surg 49:1525-31. 2009
    ..The goal of this project was to identify genetic variants associated with abdominal aortic aneurysms (AAAs)...
  31. pmc Aortic aneurysms: an immune disease with a strong genetic component
    Helena Kuivaniemi
    Center for Molecular Medicine and Genetics and Department of Surgery, Wayne State University School of Medicine, 540 E Canfield Ave, Detroit, MI 48201, USA
    Circulation 117:242-52. 2008
  32. ncbi request reprint Familial intracranial aneurysms: an analysis of 346 multiplex Finnish families
    Shannon Wills
    Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 540 E Canfield Ave, Detroit, Mich 48201, USA
    Stroke 34:1370-4. 2003
    ..We analyzed intracranial aneurysm families with at least 2 affected persons and determined relationships between affected persons and assessed the inheritance patterns of aneurysms...
  33. ncbi request reprint CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy
    Xiaoju Wang
    Wayne State University School of Medicine, Detroit, Michigan, USA
    Arthritis Rheum 46:3041-5. 2002
    ..To analyze the CARD15 gene in families with heritable multi-organ granulomatoses, including the original Blau syndrome kindred as well as other families with related granulomatous conditions...
  34. ncbi request reprint Familial abdominal aortic aneurysms: collection of 233 multiplex families
    Helena Kuivaniemi
    Center for Molecular Medicine and Genetics and Department of Surgery, Wayne State University School of Medicine, Detroit, MI 48201, USA
    J Vasc Surg 37:340-5. 2003
    ..genetics.wayne.edu/ags)...
  35. ncbi request reprint MMP13 promoter polymorphism is associated with atherosclerosis in the abdominal aorta of young black males
    Sungpil Yoon
    The Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detriot, MI 48201, USA
    Matrix Biol 21:487-98. 2002
    ..Elucidation of the currently unknown mechanism of the MMP13 polymorphism's action may provide for pharmacological intervention to reduce the severity of atherosclerotic changes in susceptible individuals...

Research Grants8

  1. GENETIC FACTORS IN ABDOMINAL AORTIC ANEURYSMS
    S KUIVANIEMI; Fiscal Year: 2002
    ..Such individuals could then be monitored by ultrasonography to detect the dilatation of abdominal aorta and surgically repair the aneurysms before they rupture and lead to massive bleeding and often sudden death. ..
  2. GENETIC FACTORS IN ABDOMINAL AORTIC ANEURYSMS
    S KUIVANIEMI; Fiscal Year: 2006
    ..Identification of the AAA susceptibility gene(s) will also allow us to develop animal models in future studies for testing new therapies. ..