Literature DB >> 25045331

A review of vascular anomalies: genetics and common syndromes.

Elizabeth Killion1, Kriti Mohan1, Edward I Lee1.   

Abstract

Vascular tumors and malformations are unique in that affected cells exhibit disrupted angiogenesis. The current treatment options often yield suboptimal results. New insight into the genetics and molecular basis of vascular anomalies may pave the way for potential development of targeted therapy. The authors review the genetic and molecular basis of vascular anomalies and common associated syndromes.

Entities:  

Keywords:  genetics; syndrome vascular anomalies; vascular anomalies; vascular malformations; vascular tumors

Year:  2014        PMID： 25045331      PMCID： PMC4078216          DOI： 10.1055/s-0034-1376261

Source DB:  PubMed          Journal:  Semin Plast Surg        ISSN： 1535-2188            Impact factor:   2.314


  51 in total

1.  Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Authors:  Matthew D Shirley; Hao Tang; Carol J Gallione; Joseph D Baugher; Laurence P Frelin; Bernard Cohen; Paula E North; Douglas A Marchuk; Anne M Comi; Jonathan Pevsner
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

Review 2.  von Hippel-Lindau syndrome.

Authors:  Angela Chou; Christopher Toon; Justine Pickett; Anthony J Gill
Journal:  Front Horm Res       Date:  2013-03-19       Impact factor: 2.606

3.  Vascular effects of endothelin-1 in stage 21 chick embryos.

Authors:  F Kajio; M Nakazawa
Journal:  Heart Vessels       Date:  1997       Impact factor: 2.037

4.  Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.

Authors:  R Happle
Journal:  J Am Acad Dermatol       Date:  1987-04       Impact factor: 11.527

Review 5.  Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

Authors:  L G Biesecker; R Happle; J B Mulliken; R Weksberg; J M Graham; D L Viljoen; M M Cohen
Journal:  Am J Med Genet       Date:  1999-06-11

6.  Effects of G-protein mutations on skin color.

Authors:  Catherine D Van Raamsdonk; Karen R Fitch; Helmut Fuchs; Martin Hrabé de Angelis; Gregory S Barsh
Journal:  Nat Genet       Date:  2004-08-22       Impact factor: 38.330

7.  The natural history of epistaxis in hereditary hemorrhagic telangiectasia.

Authors:  O S AAssar; C M Friedman; R I White
Journal:  Laryngoscope       Date:  1991-09       Impact factor: 3.325

8.  Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily.

Authors:  N P Barbara; J L Wrana; M Letarte
Journal:  J Biol Chem       Date:  1999-01-08       Impact factor: 5.157

9.  Transmission of Proteus syndrome from father to son?

Authors:  J Goodship; A Redfearn; D Milligan; D Gardner-Medwin; J Burn
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

10.  Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.

Authors:  Masatoshi Jinnin; Damian Medici; Lucy Park; Nisha Limaye; Yanqiu Liu; Elisa Boscolo; Joyce Bischoff; Miikka Vikkula; Eileen Boye; Bjorn R Olsen
Journal:  Nat Med       Date:  2008-10-19       Impact factor: 53.440
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  2 in total

1.  Angiomatosis of the uterus, cervix and fallopian tubes: a rare and benign cause of intractable, heavy menstrual bleeding.

Authors:  Jennifer C Pontré; Victor Ojedo; Bernadette McElhinney
Journal:  BMJ Case Rep       Date:  2017-12-02

2.  Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Authors:  Adam Ustaszewski; Joanna Janowska-Głowacka; Katarzyna Wołyńska; Anna Pietrzak; Magdalena Badura-Stronka
Journal:  Arch Med Sci       Date:  2020-02-25       Impact factor: 3.318
  2 in total

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