Literature DB >> 19643986

Cell adhesion molecule 1: a novel risk factor for venous thrombosis.

Sandra J Hasstedt1, Irene D Bezemer, Peter W Callas, Carla Y Vossen, Winifred Trotman, Robert P Hebbel, Christine Demers, Frits R Rosendaal, Edwin G Bovill.   

Abstract

Protein C (PC) deficiency increases the risk of venous thrombosis (VT) among members of Kindred Vermont II but fails to fully account for the inheritance pattern. A genome scan of the pedigree supported the presence of a prothrombotic gene on chromosome 11q23 (nominal P < .0001), with weaker support on chromosomes 10p12 (P < .0003) and 18p11.2-q11 (P < .0007). Resequencing of 109 genes in the linkage regions identified 5030 variants in a sample of 20 kindred members. Of 16 single nucleotide polymorphisms in 6 genes tested in the larger family set, only single nucleotide polymorphisms in cell adhesion molecule 1 (CADM1) associated with VT. Among the 8 CADM1 single nucleotide polymorphisms genotyped in the complete sample, rs6589488 was most strongly supported (P < .000007), but the association was limited to the PC-deficient subset of the sample (P < .000001). Haplotype analysis narrowed the region containing the causative variant to the coding region of the CADM1 gene. CADM1 gene expression analyzed in blood outgrowth endothelial cells cultured from family members was decreased compared with control subjects, lending phenotypic support to this conclusion. Finally, we have for the first time demonstrated CADM1 in endothelial cells, where it appears to be selectively involved in endothelial cell migration, suggesting a role in endothelial barrier repair.

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Year:  2009        PMID: 19643986      PMCID: PMC2756210          DOI: 10.1182/blood-2009-05-219485

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


  54 in total

Review 1.  Hereditary thrombophilia as a model for multigenic disease.

Authors:  E G Bovill; S J Hasstedt; M F Leppert; G L Long
Journal:  Thromb Haemost       Date:  1999-08       Impact factor: 5.249

2.  Evidence of a founder effect for the protein C gene 3363 inserted C mutation in thrombophilic pedigrees of French origin.

Authors:  P Couture; E G Bovill; C Demers; J Simard; R Delage; B T Scott; J E Valliere; P W Callas; M Jomphe; F R Rosendaal; M Aiach; G L Long
Journal:  Thromb Haemost       Date:  2001-10       Impact factor: 5.249

3.  Detection and integration of genotyping errors in statistical genetics.

Authors:  Eric Sobel; Jeanette C Papp; Kenneth Lange
Journal:  Am J Hum Genet       Date:  2002-01-08       Impact factor: 11.025

4.  TSLC1 is a tumor-suppressor gene in human non-small-cell lung cancer.

Authors:  M Kuramochi; H Fukuhara; T Nobukuni; T Kanbe; T Maruyama; H P Ghosh; M Pletcher; M Isomura; M Onizuka; T Kitamura; T Sekiya; R H Reeves; Y Murakami
Journal:  Nat Genet       Date:  2001-04       Impact factor: 38.330

5.  The tumor suppressor protein TSLC1 is involved in cell-cell adhesion.

Authors:  Mari Masuda; Mika Yageta; Hiroshi Fukuhara; Masami Kuramochi; Tomoko Maruyama; Akio Nomoto; Yoshinori Murakami
Journal:  J Biol Chem       Date:  2002-06-05       Impact factor: 5.157

6.  SynCAM, a synaptic adhesion molecule that drives synapse assembly.

Authors:  Thomas Biederer; Yildirim Sara; Marina Mozhayeva; Deniz Atasoy; Xinran Liu; Ege T Kavalali; Thomas C Südhof
Journal:  Science       Date:  2002-08-30       Impact factor: 47.728

7.  SgIGSF: a new mast-cell adhesion molecule used for attachment to fibroblasts and transcriptionally regulated by MITF.

Authors:  Akihiko Ito; Tomoko Jippo; Tomohiko Wakayama; Eiichi Morii; Yu-ichiro Koma; Hiroaki Onda; Hiroshi Nojima; Shoichi Iseki; Yukihiko Kitamura
Journal:  Blood       Date:  2002-11-27       Impact factor: 22.113

8.  Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer.

Authors:  Mika Yageta; Masami Kuramochi; Mari Masuda; Takeshi Fukami; Hiroshi Fukuhara; Tomoko Maruyama; Masabumi Shibuya; Yoshinori Murakami
Journal:  Cancer Res       Date:  2002-09-15       Impact factor: 12.701

9.  An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency.

Authors:  S J Hasstedt; E G Bovill; P W Callas; G L Long
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

10.  Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer.

Authors:  Jisheng S Cui; Amanda B Spurdle; Melissa C Southey; Gillian S Dite; Deon J Venter; Margaret R E McCredie; Graham G Giles; Georgia Chenevix-Trench; John L Hopper
Journal:  Genet Epidemiol       Date:  2003-04       Impact factor: 2.135

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  17 in total

1.  Genome scan of clot lysis time and its association with thrombosis in a protein C-deficient kindred.

Authors:  M E Meltzer; S J Hasstedt; C Y Vossen; P W Callas; Ph G DE Groot; F R Rosendaal; T Lisman; E G Bovill
Journal:  J Thromb Haemost       Date:  2011-07       Impact factor: 5.824

2.  Characteristics of fibrin formation and clot stability in individuals with congenital type IIb protein C deficiency.

Authors:  J H Foley; L Ferris; K E Brummel-Ziedins
Journal:  Thromb Res       Date:  2012-01-13       Impact factor: 3.944

3.  Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Authors:  Eun-Ju Lee; Daniel J Dykas; Andrew D Leavitt; Rodney M Camire; Eduard Ebberink; Pablo García de Frutos; Kavitha Gnanasambandan; Sean X Gu; James A Huntington; Steven R Lentz; Koen Mertens; Christopher R Parish; Alireza R Rezaie; Peter P Sayeski; Caroline Cromwell; Noffar Bar; Stephanie Halene; Natalia Neparidze; Terri L Parker; Adrienne J Burns; Anne Dumont; Xiaopan Yao; Cassius Iyad Ochoa Chaar; Jean M Connors; Allen E Bale; Alfred Ian Lee
Journal:  Blood Adv       Date:  2017-06-29

4.  Tumor Necrosis Factor α Regulates Endothelial Progenitor Cell Migration via CADM1 and NF-kB.

Authors:  Anthony R Prisco; Brian R Hoffmann; Catherine C Kaczorowski; Chris McDermott-Roe; Timothy J Stodola; Eric C Exner; Andrew S Greene
Journal:  Stem Cells       Date:  2016-03-04       Impact factor: 6.277

5.  Establishment of outgrowth endothelial cells from peripheral blood.

Authors:  Javier Martin-Ramirez; Menno Hofman; Maartje van den Biggelaar; Robert P Hebbel; Jan Voorberg
Journal:  Nat Protoc       Date:  2012-08-23       Impact factor: 13.491

6.  Genetic variants in Cell Adhesion Molecule 1 (CADM1): a validation study of a novel endothelial cell venous thrombosis risk factor.

Authors:  Hugoline G de Haan; Irene D Bezemer; Carla Y Vossen; Astrid van Hylckama Vlieg; Stefan Böehringer; Sandra J Hasstedt; Samuel Levy; Frits R Rosendaal; Edwin G Bovill
Journal:  Thromb Res       Date:  2014-09-23       Impact factor: 3.944

7.  CADM1 isoforms differentially regulate human mast cell survival and homotypic adhesion.

Authors:  Elena P Moiseeva; Mark L Leyland; Peter Bradding
Journal:  Cell Mol Life Sci       Date:  2012-03-22       Impact factor: 9.261

8.  Cell adhesion molecule 1 (CADM1) is ubiquitously present in the endothelium and smooth muscle cells of the human macro- and micro-vasculature.

Authors:  Kanayo Tatsumi; Douglas J Taatjes; Marilyn P Wadsworth; Beth A Bouchard; Edwin G Bovill
Journal:  Histochem Cell Biol       Date:  2012-09-01       Impact factor: 4.304

9.  The prothrombotic phenotypes in familial protein C deficiency are differentiated by computational modeling of thrombin generation.

Authors:  Kathleen E Brummel-Ziedins; Thomas Orfeo; Peter W Callas; Matthew Gissel; Kenneth G Mann; Edwin G Bovill
Journal:  PLoS One       Date:  2012-09-12       Impact factor: 3.240

10.  CADM1 is expressed as multiple alternatively spliced functional and dysfunctional isoforms in human mast cells.

Authors:  Elena P Moiseeva; Mark L Leyland; Peter Bradding
Journal:  Mol Immunol       Date:  2012-10-11       Impact factor: 4.407

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