Literature DB >> 27684039

Congenital heart defects in Noonan syndrome and RIT1 mutation.

Giulio Calcagni1, Anwar Baban1, Francesca Romana Lepri2, Bruno Marino3, Marco Tartaglia2, Maria Cristina Digilio2.   

Abstract

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Year:  2016        PMID： 27684039     DOI： 10.1038/gim.2016.137

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  5 in total

1.  The molecular functions of RIT1 and its contribution to human disease.

Authors:  Richard Van; Antonio Cuevas-Navarro; Pau Castel; Frank McCormick
Journal:  Biochem J       Date:  2020-08-14       Impact factor: 3.857

2.  Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

Authors:  Gordon K C Leung; H M Luk; Vincent H M Tang; W W Gao; Christopher C Y Mak; Mullin H C Yu; W L Wong; Yoyo W Y Chu; W L Yang; Wilfred H S Wong; Alvin C H Ma; Anskar Y H Leung; D Y Jin; Kelvin Y K Chan; Judith Allanson; Ivan F M Lo; Brian H Y Chung
Journal:  Sci Rep       Date:  2018-02-05       Impact factor: 4.379

3.  RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.

Authors:  Uta Meyer Zum Büschenfelde; Laura Isabel Brandenstein; Leonie von Elsner; Kristina Flato; Tess Holling; Martin Zenker; Georg Rosenberger; Kerstin Kutsche
Journal:  PLoS Genet       Date:  2018-05-07       Impact factor: 5.917

4.  Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.

Authors:  Ieva Miceikaite; Geske Sidsel Bak; Martin Jakob Larsen; Britta Schlott Kristiansen; Pernille Mathiesen Torring
Journal:  Clin Case Rep       Date:  2021-07-21

Review 5.  Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.

Authors:  Safwat A Aly; Kenneth M Boyer; Brie-Ann A Muller; Davide Marini; Carolyn H Jones; Hoang H Nguyen
Journal:  Mol Genet Genomic Med       Date:  2020-05-12       Impact factor: 2.183
  5 in total

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