Literature DB >> 18412122

Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007.

Katherine A Rauen1, Erin Hefner, Kristin Carrillo, Jill Taylor, Laure Messier, Yoko Aoki, Karen W Gripp, Yoichi Matsubara, Virginia K Proud, Peter Hammond, Judith E Allanson, Marie-Ange Delrue, Marni E Axelrad, Angela E Lin, Daniel A Doyle, Bronwyn Kerr, John C Carey, Frank McCormick, Alcino J Silva, Mark W Kieran, Aleksander Hinek, Tan T Nguyen, Lisa Schoyer.   

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Year:  2008        PMID： 18412122     DOI： 10.1002/ajmg.a.32276

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


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  6 in total

1.  C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

Authors:  Michael Klüppel; Payman Samavarchi-Tehrani; Kela Liu; Jeffrey L Wrana; Aleksander Hinek
Journal:  Eur J Hum Genet       Date:  2012-02-08       Impact factor: 4.246

2.  Activated Kras alters epidermal homeostasis of mouse skin, resulting in redundant skin and defective hair cycling.

Authors:  Anandaroop Mukhopadhyay; Suguna R Krishnaswami; Benjamin D-Y Yu
Journal:  J Invest Dermatol       Date:  2010-10-14       Impact factor: 8.551

3.  Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding.

Authors:  Rosalinda Calandrelli; Gabriella D'Apolito; Panfili Marco; Giuseppe Zampino; Tommaso Tartaglione; Cesare Colosimo
Journal:  Neuroradiol J       Date:  2015-06

4.  [Costello syndrome: report of a case].

Authors:  Mariam Tajir; Patricia Fergelot; Gwenaelle Lancelot; Benoit Arveiler; Siham Chafai Elalaoui; Didier Lacombe; Abdelaziz Sefiani
Journal:  Pan Afr Med J       Date:  2012-07-04

5.  Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

Authors:  Corina Anastasaki; Anne L Estep; Richard Marais; Katherine A Rauen; E Elizabeth Patton
Journal:  Hum Mol Genet       Date:  2009-04-17       Impact factor: 6.150

6.  Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

Authors:  Ewa Blachowska; Elżbieta Petriczko; Anita Horodnicka-Józwa; Agata Skórka; Magdalena Pelc; Małgorzata Krajewska-Walasek; Mieczysław Walczak
Journal:  Ital J Pediatr       Date:  2016-01-26       Impact factor: 2.638
  6 in total

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