Literature DB >> 27155140

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

David A Stevenson1, Lisa Schill2, Lisa Schoyer2, Brage S Andresen3, Annette Bakker4, Pinar Bayrak-Toydemir5, Emma Burkitt-Wright6, Kathryn Chatfield7, Florent Elefteriou8, Ype Elgersma9, Michael J Fisher10, David Franz11, Bruce D Gelb12, Anne Goriely13, Karen W Gripp14, Antonio Y Hardan1, Kim M Keppler-Noreuil15, Bronwyn Kerr6, Bruce Korf16, Chiara Leoni17, Frank McCormick18, Scott R Plotkin19, Katherine A Rauen20, Karlyne Reilly18, Amy Roberts21, Abby Sandler18, Dawn Siegel22, Karin Walsh23, Brigitte C Widemann18.   

Abstract

The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field.
© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Entities:  

Keywords:  RASopathy; Ras/MAPK; cancer; clinical trials; experimental models; rare disorders

Mesh：

Substances：

Year:  2016        PMID： 27155140      PMCID： PMC4945362          DOI： 10.1002/ajmg.a.37723

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


  15 in total

Review 1.  KRAS as a Therapeutic Target.

Authors:  Frank McCormick
Journal:  Clin Cancer Res       Date:  2015-04-15       Impact factor: 12.531

2.  Gemcitabine and ISIS-2503 for patients with locally advanced or metastatic pancreatic adenocarcinoma: a North Central Cancer Treatment Group phase II trial.

Authors:  Steven R Alberts; Mark Schroeder; Charles Erlichman; Preston D Steen; Nathan R Foster; Dennis F Moore; Kendrith M Rowland; Suresh Nair; Loren K Tschetter; Tom R Fitch
Journal:  J Clin Oncol       Date:  2004-12-15       Impact factor: 44.544

Review 3.  The RAS/RAF/MEK/ERK and the PI3K/AKT signalling pathways: role in cancer pathogenesis and implications for therapeutic approaches.

Authors:  Antonella De Luca; Monica R Maiello; Amelia D'Alessio; Maria Pergameno; Nicola Normanno
Journal:  Expert Opin Ther Targets       Date:  2012-03-23       Impact factor: 6.902

Review 4.  Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1.

Authors:  Rui M Costa; Alcino J Silva
Journal:  J Child Neurol       Date:  2002-08       Impact factor: 1.987

5.  Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas.

Authors:  Brigitte C Widemann; Eva Dombi; Andrea Gillespie; Pamela L Wolters; Jean Belasco; Stewart Goldman; Bruce R Korf; Jeffrey Solomon; Staci Martin; Wanda Salzer; Elizabeth Fox; Nicholas Patronas; Mark W Kieran; John P Perentesis; Alyssa Reddy; John J Wright; AeRang Kim; Seth M Steinberg; Frank M Balis
Journal:  Neuro Oncol       Date:  2014-02-04       Impact factor: 12.300

6.  MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors.

Authors:  Walter J Jessen; Shyra J Miller; Edwin Jousma; Jianqiang Wu; Tilat A Rizvi; Meghan E Brundage; David Eaves; Brigitte Widemann; Mi-Ok Kim; Eva Dombi; Jessica Sabo; Atira Hardiman Dudley; Michiko Niwa-Kawakita; Grier P Page; Marco Giovannini; Bruce J Aronow; Timothy P Cripe; Nancy Ratner
Journal:  J Clin Invest       Date:  2012-12-10       Impact factor: 14.808

Review 7.  The RASopathies.

Authors:  Katherine A Rauen
Journal:  Annu Rev Genomics Hum Genet       Date:  2013-07-15       Impact factor: 8.929

8.  Cardiovascular disease in Noonan syndrome.

Authors:  Terence W Prendiville; Kimberlee Gauvreau; Erica Tworog-Dube; Lynne Patkin; Raju S Kucherlapati; Amy E Roberts; Ronald V Lacro
Journal:  Arch Dis Child       Date:  2014-02-17       Impact factor: 3.791

Review 9.  Achieving consensus for clinical trials: the REiNS International Collaboration.

Authors:  Scott R Plotkin; Jaishri O Blakeley; Eva Dombi; Michael J Fisher; C Oliver Hanemann; Karin S Walsh; Pamela L Wolters; Brigitte C Widemann
Journal:  Neurology       Date:  2013-11-19       Impact factor: 9.910

10.  Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

Authors:  C P Kratz; L Franke; H Peters; N Kohlschmidt; B Kazmierczak; U Finckh; A Bier; B Eichhorn; C Blank; C Kraus; J Kohlhase; S Pauli; G Wildhardt; K Kutsche; B Auber; A Christmann; N Bachmann; D Mitter; F W Cremer; K Mayer; C Daumer-Haas; C Nevinny-Stickel-Hinzpeter; F Oeffner; G Schlüter; M Gencik; B Überlacker; C Lissewski; I Schanze; M H Greene; C Spix; M Zenker
Journal:  Br J Cancer       Date:  2015-03-05       Impact factor: 7.640
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  6 in total

Review 1.  Multidisciplinary Management of Costello Syndrome: Current Perspectives.

Authors:  Chiara Leoni; Germana Viscogliosi; Marco Tartaglia; Yoko Aoki; Giuseppe Zampino
Journal:  J Multidiscip Healthc       Date:  2022-06-02

2.  A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Authors:  Kelly Schoch; Linyan Meng; Szabolcs Szelinger; David R Bearden; Asbjorg Stray-Pedersen; Oyvind L Busk; Nicholas Stong; Eriskay Liston; Ronald D Cohn; Fernando Scaglia; Jill A Rosenfeld; Jennifer Tarpinian; Cara M Skraban; Matthew A Deardorff; Jeremy N Friedman; Zeynep Coban Akdemir; Nicole Walley; Mohamad A Mikati; Peter G Kranz; Joan Jasien; Allyn McConkie-Rosell; Marie McDonald; Stephanie Burns Wechsler; Michael Freemark; Sujay Kansagra; Sharon Freedman; Deeksha Bali; Francisca Millan; Sherri Bale; Stanley F Nelson; Hane Lee; Naghmeh Dorrani; David B Goldstein; Rui Xiao; Yaping Yang; Jennifer E Posey; Julian A Martinez-Agosto; James R Lupski; Michael F Wangler; Vandana Shashi
Journal:  Am J Hum Genet       Date:  2017-01-26       Impact factor: 11.043

3.  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

4.  Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Authors:  Antonio Valassina; Giuseppe Zampino; Chiara Leoni; Domenico Marco Romeo; Michele Pelliccioni; Mariangela Di Già; Roberta Onesimo; Valentina Giorgio; Elisabetta Flex; Marta Tedesco; Marco Tartaglia; Donato Rigante
Journal:  Orphanet J Rare Dis       Date:  2021-01-22       Impact factor: 4.123

Review 5.  Neurofibromatosis in the Era of Precision Medicine: Development of MEK Inhibitors and Recent Successes with Selumetinib.

Authors:  Robert Galvin; Adrienne L Watson; David A Largaespada; Nancy Ratner; Sara Osum; Christopher L Moertel
Journal:  Curr Oncol Rep       Date:  2021-03-15       Impact factor: 5.075

Review 6.  The Many Faces of Rap1 GTPase.

Authors:  Anna Jaśkiewicz; Beata Pająk; Arkadiusz Orzechowski
Journal:  Int J Mol Sci       Date:  2018-09-20       Impact factor: 5.923
  6 in total

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