Literature DB >> 19610100

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.

Maria Piccione1, Marcello Niceta, Vincenzo Antona, Antonella Di Fiore, Filomena Cariola, Mattia Gentile, Giovanni Corsello.   

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Year:  2009        PMID： 19610100     DOI： 10.1002/ajmg.a.32952

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


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  7 in total

1.  Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.

Authors:  Katherine A Fantauzzo; Angela M Christiano
Journal:  Development       Date:  2011-11-24       Impact factor: 6.868

2.  Expression and relevance of TRPS-1: a new GATA transcription factor in breast cancer.

Authors:  Jie Qing Chen; Yi Bao; Jennifer Litton; Li Xiao; Hua-Zhong Zhang; Carla L Warneke; Yun Wu; Xiaoyun Shen; Sheng Wu; Ruth L Katz; Aysegul Sahin; Melissa Bondy; James L Murray; Laszlo Radvanyi
Journal:  Horm Cancer       Date:  2011-04       Impact factor: 3.869

3.  Langer-Giedion syndrome: the evolving imaging features in hands and beyond.

Authors:  Wai Kan Tsang; Kwok Wai Michael Yang; Chi Ming Fong
Journal:  Skeletal Radiol       Date:  2013-09-27       Impact factor: 2.199

4.  Control of mesenchymal lineage progression by microRNAs targeting skeletal gene regulators Trps1 and Runx2.

Authors:  Ying Zhang; Rong-Lin Xie; Jonathan Gordon; Kimberly LeBlanc; Janet L Stein; Jane B Lian; Andre J van Wijnen; Gary S Stein
Journal:  J Biol Chem       Date:  2012-04-27       Impact factor: 5.157

5.  Langer-giedion syndrome: a distinct phenotype.

Authors:  Riya George; Fehmida Najmuddin; Rajesh Rai; Keya Lahiri
Journal:  Iran J Pediatr       Date:  2014-09-10       Impact factor: 0.364

6.  An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Authors:  Nikoletta Selenti; Maria Tzetis; Maria Braoudaki; Krinio Gianikou; Sofia Kitsiou-Tzeli; Helen Fryssira
Journal:  Mol Cytogenet       Date:  2015-08-12       Impact factor: 2.009

7.  New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.

Authors:  Milena Crippa; Ilaria Bestetti; Mario Perotti; Chiara Castronovo; Silvia Tabano; Chiara Picinelli; Guido Grassi; Lidia Larizza; Angela Ida Pincelli; Palma Finelli
Journal:  BMC Med Genet       Date:  2014-05-02       Impact factor: 2.103
  7 in total

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