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Literature DB >> 20034076

GAPO syndrome associated with craniofacial vascular malformation.

Gregor Castrillon-Oberndorfer¹, Robin Seeberger, Claire Bacon, Michael Engel, Friedrich Ebinger, Oliver Christian Thiele.

Abstract

Entities: Disease

Mesh：

Year: 2010 PMID： 20034076 DOI： 10.1002/ajmg.a.33192

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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6 in total

1. Cell autonomous ANTXR1-mediated regulation of extracellular matrix components in primary fibroblasts.

Authors: Kai Hu; Bjorn R Olsen; Tatiana Y Besschetnova
Journal: Matrix Biol Date: 2016-12-20 Impact factor: 11.583

2. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Authors: Yavuz Bayram; Davut Pehlivan; Ender Karaca; Tomasz Gambin; Shalini N Jhangiani; Serkan Erdin; Claudia Gonzaga-Jauregui; Wojciech Wiszniewski; Donna Muzny; Nursel H Elcioglu; M Selman Yildirim; Banu Bozkurt; Ayse Gul Zamani; Eric Boerwinkle; Richard A Gibbs; James R Lupski
Journal: Am J Med Genet A Date: 2014-07-14 Impact factor: 2.802

3. Mutations in ANTXR1 cause GAPO syndrome.

Authors: Viktor Stránecký; Alexander Hoischen; Hana Hartmannová; Maha S Zaki; Amit Chaudhary; Enrique Zudaire; Lenka Nosková; Veronika Barešová; Anna Přistoupilová; Kateřina Hodaňová; Jana Sovová; Helena Hůlková; Lenka Piherová; Jayne Y Hehir-Kwa; Deepthi de Silva; Manouri P Senanayake; Sameh Farrag; Jiří Zeman; Pavel Martásek; Alice Baxová; Hanan H Afifi; Brad St Croix; Han G Brunner; Samia Temtamy; Stanislav Kmoch
Journal: Am J Hum Genet Date: 2013-04-18 Impact factor: 11.025

GAPO syndrome associated with craniofacial vascular malformation.

1. Cell autonomous ANTXR1-mediated regulation of extracellular matrix components in primary fibroblasts.

2. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

3. Mutations in ANTXR1 cause GAPO syndrome.

4. GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension.

5. Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis.

6. Anesthetic management of a case of GAPO syndrome for craniosynostosis surgery.