Literature DB >> 10352941

Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families.

S Laberge1, P Labauge, E Maréchal, J Maciazek, E Tournier-Lasserve.   

Abstract

Cerebral cavernous angiomas malformations (CCM) can be inherited as an autosomal dominant condition. CCM1, a yet unidentified gene mapping on 7q21-q22, was shown to be involved in all CCM Hispano-American families, with a strong founder effect. Genetic heterogeneity in non Hispano-American families was established in two families. We conducted a genetic linkage analysis on 36 French CCM families using eight microsatellite markers mapping within the CCM1 interval. Admixture analysis showed that 65% of these families were linked to the CCM1 locus. Haplotypes analysis of CCM1-linked families did not show any evidence for a strong founder effect.

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Year:  1999        PMID： 10352941     DOI： 10.1038/sj.ejhg.5200324

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  8 in total

Review 1.  Genetics of cerebral cavernous malformations: current status and future prospects.

Authors:  H Choquet; L Pawlikowska; M T Lawton; H Kim
Journal:  J Neurosurg Sci       Date:  2015-04-22       Impact factor: 2.279

2.  Deletions in CCM2 are a common cause of cerebral cavernous malformations.

Authors:  Christina L Liquori; Michel J Berg; Ferdinando Squitieri; Tracey P Leedom; Louis Ptacek; Eric W Johnson; Douglas A Marchuk
Journal:  Am J Hum Genet       Date:  2006-11-14       Impact factor: 11.025

3.  Calm the raging hormone - A new therapeutic strategy involving progesterone-signaling for hemorrhagic CCMs.

Authors:  Jun Zhang; Johnathan S Abou-Fadel
Journal:  Vessel Plus       Date:  2021-07-05

4.  Combinatorial interaction between CCM pathway genes precipitates hemorrhagic stroke.

Authors:  Aniket V Gore; Maria Grazia Lampugnani; Louis Dye; Elisabetta Dejana; Brant M Weinstein
Journal:  Dis Model Mech       Date:  2008-10-28       Impact factor: 5.758

5.  Mutations within the MGC4607 gene cause cerebral cavernous malformations.

Authors:  C Denier; S Goutagny; P Labauge; V Krivosic; M Arnoult; A Cousin; A L Benabid; J Comoy; P Frerebeau; B Gilbert; J P Houtteville; M Jan; F Lapierre; H Loiseau; P Menei; P Mercier; J J Moreau; A Nivelon-Chevallier; F Parker; A M Redondo; J M Scarabin; M Tremoulet; M Zerah; J Maciazek; E Tournier-Lasserve
Journal:  Am J Hum Genet       Date:  2004-01-22       Impact factor: 11.025

6.  Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.

Authors:  Christina L Liquori; Michel J Berg; Adrian M Siegel; Elizabeth Huang; Jon S Zawistowski; T'Prien Stoffer; Dominique Verlaan; Fiyinfolu Balogun; Lori Hughes; Tracey P Leedom; Nicholas W Plummer; Milena Cannella; Vittorio Maglione; Ferdinando Squitieri; Eric W Johnson; Guy A Rouleau; Louis Ptacek; Douglas A Marchuk
Journal:  Am J Hum Genet       Date:  2003-11-17       Impact factor: 11.025

7.  Network-based analysis of omics data: the LEAN method.

Authors:  Frederik Gwinner; Gwénola Boulday; Claire Vandiedonck; Minh Arnould; Cécile Cardoso; Iryna Nikolayeva; Oriol Guitart-Pla; Cécile V Denis; Olivier D Christophe; Johann Beghain; Elisabeth Tournier-Lasserve; Benno Schwikowski
Journal:  Bioinformatics       Date:  2017-03-01       Impact factor: 6.937

Review 8.  Is Location Everything? Regulation of the Endothelial CCM Signaling Complex.

Authors:  Harsha Swamy; Angela J Glading
Journal:  Front Cardiovasc Med       Date:  2022-07-11
  8 in total

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