Literature DB >> 20308891

Mechanisms of vascular stability and the relationship to human disease.

Matthew C P Smith1, Dean Y Li, Kevin J Whitehead.   

Abstract

PURPOSE OF REVIEW: The genetic basis for a variety of vascular malformation syndromes have been described, with an increasing functional understanding of the associated genes. RECENT
FINDINGS: Genes responsible for familial vascular malformation syndromes have increasingly been shown to be involved in the control of vascular stability.
SUMMARY: Genes involved in vascular stability pathways are good candidates for causing vascular malformation syndromes. Although these findings confirm the biologic importance of the involved pathways, further explanations are required to describe the focal nature of disease.

Entities:  

Mesh：

Year:  2010        PMID： 20308891      PMCID： PMC2859848          DOI： 10.1097/MOH.0b013e3283386750

Source DB:  PubMed          Journal:  Curr Opin Hematol        ISSN： 1065-6251            Impact factor:   3.284


  63 in total

1.  Molecular medicine. The cholesterol quartet.

Authors:  J L Goldstein; M S Brown
Journal:  Science       Date:  2001-05-18       Impact factor: 47.728

Review 2.  Rho GTPases in cell biology.

Authors:  Sandrine Etienne-Manneville; Alan Hall
Journal:  Nature       Date:  2002-12-12       Impact factor: 49.962

3.  Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock.

Authors:  Mark T Uhlik; Amy N Abell; Nancy L Johnson; Weiyong Sun; Bruce D Cuevas; Katherine E Lobel-Rice; Eric A Horne; Mark L Dell'Acqua; Gary L Johnson
Journal:  Nat Cell Biol       Date:  2003-11-23       Impact factor: 28.824

4.  Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.

Authors:  Florence Cavé-Riant; Christian Denier; Pierre Labauge; Michaelle Cécillon; Jacqueline Maciazek; Anne Joutel; Sophie Laberge-Le Couteulx; Elisabeth Tournier-Lasserve
Journal:  Eur J Hum Genet       Date:  2002-11       Impact factor: 4.246

5.  Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).

Authors:  T Sahoo; E W Johnson; J W Thomas; P M Kuehl; T L Jones; C G Dokken; J W Touchman; C J Gallione; S Q Lee-Lin; B Kosofsky; J H Kurth; D N Louis; G Mettler; L Morrison; A Gil-Nagel; S S Rich; J M Zabramski; M S Boguski; E D Green; D A Marchuk
Journal:  Hum Mol Genet       Date:  1999-11       Impact factor: 6.150

6.  Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations.

Authors:  R E Clatterbuck; C G Eberhart; B J Crain; D Rigamonti
Journal:  J Neurol Neurosurg Psychiatry       Date:  2001-08       Impact factor: 10.154

7.  Signal transducer and activator of transcription 1 activation in endothelial cells is a negative regulator of angiogenesis.

Authors:  Traci E Battle; Rebecca A Lynch; David A Frank
Journal:  Cancer Res       Date:  2006-04-01       Impact factor: 12.701

8.  Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

Authors:  Iiro Eerola; Laurence M Boon; John B Mulliken; Patricia E Burrows; Anne Dompmartin; Shoji Watanabe; Romain Vanwijck; Miikka Vikkula
Journal:  Am J Hum Genet       Date:  2003-11-24       Impact factor: 11.025

Review 9.  Vascular malformations: localized defects in vascular morphogenesis.

Authors:  P Brouillard; M Vikkula
Journal:  Clin Genet       Date:  2003-05       Impact factor: 4.438

10.  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
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  2 in total

1.  Somatic PIK3CA mutations as a driver of sporadic venous malformations.

Authors:  Pau Castel; F Javier Carmona; Joaquim Grego-Bessa; Michael F Berger; Agnès Viale; Kathryn V Anderson; Silvia Bague; Maurizio Scaltriti; Cristina R Antonescu; Eulàlia Baselga; José Baselga
Journal:  Sci Transl Med       Date:  2016-03-30       Impact factor: 17.956

2.  Signaling required for blood vessel maintenance: molecular basis and pathological manifestations.

Authors:  Masahiro Murakami
Journal:  Int J Vasc Med       Date:  2011-12-06
  2 in total

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