Research Topics
Genomes and Genes
| Helena KuivaniemiSummaryAffiliation: Geisinger Medical Center Country: USA Publications
Research Grants
| Collaborators
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Detail Information
Publications
MicroRNA expression signature in human abdominal aortic aneurysmsMatthew 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...
Opportunities in abdominal aortic aneurysm research: epidemiology, genetics, and pathophysiologyHelena 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...- Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19John 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... 
HLA-DQA is associated with abdominal aortic aneurysms in the Belgian populationGerard 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...- Association of kallikrein gene polymorphisms with intracranial aneurysmsShantel 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... - Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysmsToru 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... - Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophyJayne 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... - Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysmShantel 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... - Binding sites for ETS family of transcription factors dominate the promoter regions of differentially expressed genes in abdominal aortic aneurysmsJennifer 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... - Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control studyToru 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... - Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein functionJayne 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... - Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3Monique 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... - Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysmsGuy M Lenk
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USA
BMC Genomics 8:237. 2007.... - Global expression profiles in human normal and aneurysmal abdominal aorta based on two distinct whole genome microarray platformsGuy 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.... - Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13Hidenori Shibamura
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Mich 48201, USA
Circulation 109:2103-8. 2004..73 (P=0.0012) near marker D4S1644 using the same covariate model as for chromosome 19. CONCLUSIONS: Our results provide evidence for genetic heterogeneity and the presence of susceptibility loci for AAA on chromosomes 19q13 and 4q31... - Identification of novel functional sequence variants in the gene for peptidase inhibitor 3Mahboob 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... - Role of complement cascade in abdominal aortic aneurysmsIrene 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)... - Genes and abdominal aortic aneurysmIrene 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... - Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysmsJohn H Lillvis
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
BMC Physiol 11:9. 2011.... - 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, CanadaToru Ogata
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
J Vasc Surg 42:891-7. 2005..2% vs 2.3%). These findings confirmed previous reports on high prevalence of AAA among siblings of AAA patients and emphasized the importance of an ultrasonography screening program for siblings of AAA patients... - Elevated expression of matrix metalloproteinase-13 in abdominal aortic aneurysmsGerard 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... - Fine mapping of the Schnyder's crystalline corneal dystrophy locusVeena 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... - Genome-wide approach to finding abdominal aortic aneurysm susceptibility genes in humansHelena 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... - Community-based, nonprofit organization-sponsored ultrasonography screening program for abdominal aortic aneurysms is effective at identifying occult aneurysmsToru Ogata
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
Ann Vasc Surg 20:312-6. 2006.... - Basic research studies to understand aneurysm diseaseAmy 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.... - Novel genetic mechanisms for aortic aneurysmsGerard Tromp
Sigfried and Janet Weis Center for Research, Geisinger Clinic, Danville, PA 17822 2611, USA
Curr Atheroscler Rep 12:259-66. 2010.... - The design, execution, and interpretation of genetic association studies to decipher complex diseasesRoberto 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... - Genome-wide expression profiling of fetal membranes reveals a deficient expression of proteinase inhibitor 3 in premature rupture of membranesGerard Tromp
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USA
Am J Obstet Gynecol 191:1331-8. 2004.... - A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathicaSheila 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... - Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide associationJames 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)... - Aortic aneurysms: an immune disease with a strong genetic componentHelena 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 - Familial intracranial aneurysms: an analysis of 346 multiplex Finnish familiesShannon 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..5%) of the families. CONCLUSIONS: The collection is the most extensive published to date and extends previous observations of familial aggregation that are consistent with a major gene effect... - CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathyXiaoju Wang
Wayne State University School of Medicine, Detroit, Michigan, USA
Arthritis Rheum 46:3041-5. 2002..CONCLUSION: These findings demonstrate that CARD15 is an important susceptibility gene for Blau syndrome and for other familial granulomatoses that display phenotypic traits beyond those of classic Blau syndrome... - Familial abdominal aortic aneurysms: collection of 233 multiplex familiesHelena 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)... - MMP13 promoter polymorphism is associated with atherosclerosis in the abdominal aorta of young black malesSungpil 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 Grants
- GENETIC FACTORS IN ABDOMINAL AORTIC ANEURYSMSS 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. ..
- GENETIC FACTORS IN ABDOMINAL AORTIC ANEURYSMSS 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. ..