Literature DB >> 31047013

Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition.

Gregor Andelfinger, Christopher Marquis, Marie-Josée Raboisson, Yves Théoret, Stephan Waldmüller, Gesa Wiegand, Bruce D Gelb, Martin Zenker, Marie-Ange Delrue, Michael Hofbeck.   

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Year:  2019        PMID： 31047013      PMCID： PMC6916648          DOI： 10.1016/j.jacc.2019.01.066

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN： 0735-1097            Impact factor:   24.094


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  4 in total

1.  MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation.

Authors:  Xue Wu; Jeremy Simpson; Jenny H Hong; Kyoung-Han Kim; Nirusha K Thavarajah; Peter H Backx; Benjamin G Neel; Toshiyuki Araki
Journal:  J Clin Invest       Date:  2011-02-21       Impact factor: 14.808

2.  Age-specific reference intervals for indexed left ventricular mass in children.

Authors:  Philip R Khoury; Mark Mitsnefes; Stephen R Daniels; Thomas R Kimball
Journal:  J Am Soc Echocardiogr       Date:  2009-05-07       Impact factor: 5.251

3.  Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry.

Authors:  James D Wilkinson; April M Lowe; Bonnie A Salbert; Lynn A Sleeper; Steven D Colan; Gerald F Cox; Jeffrey A Towbin; David M Connuck; Jane E Messere; Steven E Lipshultz
Journal:  Am Heart J       Date:  2012-08-09       Impact factor: 4.749

4.  K-RasV14I recapitulates Noonan syndrome in mice.

Authors:  Isabel Hernández-Porras; Salvatore Fabbiano; Alberto J Schuhmacher; Alexandra Aicher; Marta Cañamero; Juan Antonio Cámara; Lorena Cussó; Manuel Desco; Christopher Heeschen; Francisca Mulero; Xosé R Bustelo; Carmen Guerra; Mariano Barbacid
Journal:  Proc Natl Acad Sci U S A       Date:  2014-10-30       Impact factor: 11.205
  4 in total
  22 in total

1.  Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.

Authors:  Léa Linglart; Bruce D Gelb
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-02-05       Impact factor: 3.908

Review 2.  The duality of human oncoproteins: drivers of cancer and congenital disorders.

Authors:  Pau Castel; Katherine A Rauen; Frank McCormick
Journal:  Nat Rev Cancer       Date:  2020-04-27       Impact factor: 60.716

Review 3.  An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.

Authors:  Jae-Sung Yi; Sravan Perla; Anton M Bennett
Journal:  Cardiovasc Drugs Ther       Date:  2022-02-14       Impact factor: 3.727

4.  Comprehensive Proteomics Profiling Identifies Patients With Late Gadolinium Enhancement on Cardiac Magnetic Resonance Imaging in the Hypertrophic Cardiomyopathy Population.

Authors:  Bradley S Lander; Yanling Zhao; Kohei Hasegawa; Mathew S Maurer; Albree Tower-Rader; Michael A Fifer; Muredach P Reilly; Yuichi J Shimada
Journal:  Front Cardiovasc Med       Date:  2022-06-17

5.  MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome.

Authors:  C C Pieper; J Wagenpfeil; A Henkel; S Geiger; T Köster; K Hoss; J A Luetkens; C Hart; U I Attenberger; A Müller
Journal:  Sci Rep       Date:  2022-07-01       Impact factor: 4.996

6.  The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.

Authors:  Lauren E Parker; Andrew P Landstrom
Journal:  Prog Pediatr Cardiol       Date:  2021-07-01

7.  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

8.  The sixth international RASopathies symposium: Precision medicine-From promise to practice.

Authors:  Karen W Gripp; Lisa Schill; Lisa Schoyer; Beth Stronach; Anton M Bennett; Susan Blaser; Amanda Brown; Rebecca Burdine; Emma Burkitt-Wright; Pau Castel; Sandra Darilek; Alwyn Dias; Tuesdi Dyer; Michelle Ellis; Gregg Erickson; Bruce D Gelb; Tamar Green; Andrea Gross; Alan Ho; James Lloyd Holder; Shin-Ichi Inoue; Angie C Jelin; Annie Kennedy; Richard Klein; Maria I Kontaridis; Pilar Magoulas; Darryl B McConnell; Frank McCormick; Benjamin G Neel; Carlos E Prada; Katherine A Rauen; Amy Roberts; Pablo Rodriguez-Viciana; Neal Rosen; Gavin Rumbaugh; Anna Sablina; Maja Solman; Marco Tartaglia; Angelica Thomas; William C Timmer; Kartik Venkatachalam; Karin S Walsh; Pamela L Wolters; Jae-Sung Yi; Martin Zenker; Nancy Ratner
Journal:  Am J Med Genet A       Date:  2019-12-11       Impact factor: 2.802

9.  Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.

Authors:  Andrea M Gross; Megan Frone; Karen W Gripp; Bruce D Gelb; Lisa Schoyer; Lisa Schill; Beth Stronach; Leslie G Biesecker; Dominic Esposito; Edjay Ralph Hernandez; Eric Legius; Mignon L Loh; Staci Martin; Deborah K Morrison; Katherine A Rauen; Pamela L Wolters; Dina Zand; Frank McCormick; Sharon A Savage; Douglas R Stewart; Brigitte C Widemann; Marielle E Yohe
Journal:  Am J Med Genet A       Date:  2020-01-08       Impact factor: 2.578

10.  Costello syndrome model mice with a HrasG12S/+ mutation are susceptible to develop house dust mite-induced atopic dermatitis.

Authors:  Yu Katata; Shin-Ichi Inoue; Atsuko Asao; Shuhei Kobayashi; Hitoshi Terui; Aya Inoue-Shibui; Taiki Abe; Tetsuya Niihori; Setsuya Aiba; Naoto Ishii; Shigeo Kure; Yoko Aoki
Journal:  Cell Death Dis       Date:  2020-08-13       Impact factor: 8.469
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