Literature DB >> 30908866

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.

Rosalie E Ferner1, Annette Bakker2, Ype Elgersma3, D Gareth R Evans4,5, Marco Giovannini6, Eric Legius7, Alison Lloyd8, Ludwine M Messiaen9, Scott Plotkin10, Karlyne M Reilly11, Aaron Schindeler12, Miriam J Smith4,5, Nicole J Ullrich13, Brigitte Widemann14, Larry S Sherman15.   

Abstract

The neurofibromatoses are inherited, tumor suppressor disorders that are characterized by multiple, benign peripheral nerve sheath tumors and other nervous system tumors. Each disease is associated with a distinct genetic mutation and with a different pathogenesis and clinical course. Neurofibromatosis 1 (NF1) is common and epitomized by multiple neurofibromas with widespread complications. NF2 and schwannomatosis are rare diseases that are typified by multiple schwannomas that are particularly painful in people with schwannomatosis. Since 1985, the Children's Tumor Foundation (formerly the National Neurofibromatosis Foundation) has hosted an international Neurofibromatosis Conference, bringing together international participants who are focused on NF research and clinical care. The 2017 Conference, held in Washington, DC, was among the largest gatherings of NF researchers to date and included presentations from clinicians and basic scientists, highlighting new data regarding the molecular and cellular mechanisms underlying each of these diseases as well as results from clinical studies and clinical trials. This article summarizes the findings presented at the meeting and represents the current state-of-the art for NF research.
© 2019 Wiley Periodicals, Inc.

Entities:  

Keywords:  neurofibromatosis 1; neurofibromatosis 2; schwannomatosis

Mesh:

Year:  2019        PMID: 30908866      PMCID: PMC6488427          DOI: 10.1002/ajmg.a.61112

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


  29 in total

1.  The development of cutaneous neurofibromas.

Authors:  Eeva-Mari Jouhilahti; Sirkku Peltonen; Tom Callens; Elina Jokinen; Anthony M Heape; Ludwine Messiaen; Juha Peltonen
Journal:  Am J Pathol       Date:  2011-02       Impact factor: 4.307

2.  The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors.

Authors:  Christine S Higham; Eva Dombi; Aljosja Rogiers; Sucharita Bhaumik; Steven Pans; Steve E J Connor; Markku Miettinen; Raf Sciot; Roberto Tirabosco; Hilde Brems; Andrea Baldwin; Eric Legius; Brigitte C Widemann; Rosalie E Ferner
Journal:  Neuro Oncol       Date:  2018-05-18       Impact factor: 12.300

3.  Immunohistochemical Markers for Prospective Studies in Neurofibromatosis-1 Porcine Models.

Authors:  David K Meyerholz; Georgina K Ofori-Amanfo; Mariah R Leidinger; J Adam Goeken; Rajesh Khanna; Jessica C Sieren; Benjamin W Darbro; Dawn E Quelle; Jill M Weimer
Journal:  J Histochem Cytochem       Date:  2017-08-28       Impact factor: 2.479

4.  The reduced osteogenic potential of Nf1-deficient osteoprogenitors is EGFR-independent.

Authors:  S E Tahaei; G Couasnay; Y Ma; N Paria; J Gu; B F Lemoine; X Wang; J J Rios; F Elefteriou
Journal:  Bone       Date:  2017-10-12       Impact factor: 4.398

5.  Targeting the cMET pathway augments radiation response without adverse effect on hearing in NF2 schwannoma models.

Authors:  Yingchao Zhao; Pinan Liu; Na Zhang; Jie Chen; Lukas D Landegger; Limeng Wu; Fu Zhao; Yanxia Zhao; Yanling Zhang; Jing Zhang; Takeshi Fujita; Anat Stemmer-Rachamimov; Gino B Ferraro; Hao Liu; Alona Muzikansky; Scott R Plotkin; Konstantina M Stankovic; Rakesh K Jain; Lei Xu
Journal:  Proc Natl Acad Sci U S A       Date:  2018-02-09       Impact factor: 11.205

6.  Combined Inhibition of NEDD8-Activating Enzyme and mTOR Suppresses NF2 Loss-Driven Tumorigenesis.

Authors:  Jonathan Cooper; Qingwen Xu; Lu Zhou; Milica Pavlovic; Virginia Ojeda; Kamalika Moulick; Elisa de Stanchina; John T Poirier; Marjorie Zauderer; Charles M Rudin; Matthias A Karajannis; C Oliver Hanemann; Filippo G Giancotti
Journal:  Mol Cancer Ther       Date:  2017-05-03       Impact factor: 6.261

7.  The neural basis of deficient response inhibition in children with neurofibromatosis type 1: Evidence from a functional MRI study.

Authors:  Natalie A Pride; Mayuresh S Korgaonkar; Kathryn N North; Belinda Barton; Jonathan M Payne
Journal:  Cortex       Date:  2017-05-06       Impact factor: 4.027

8.  Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy.

Authors:  Alexander Schulz; Stephan L Baader; Michiko Niwa-Kawakita; Marie Juliane Jung; Reinhard Bauer; Cynthia Garcia; Ansgar Zoch; Stephan Schacke; Christian Hagel; Victor-Felix Mautner; C Oliver Hanemann; Xin-Peng Dun; David B Parkinson; Joachim Weis; J Michael Schröder; David H Gutmann; Marco Giovannini; Helen Morrison
Journal:  Nat Neurosci       Date:  2013-03-03       Impact factor: 24.884

9.  Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development.

Authors:  Jeremie Vitte; Fuying Gao; Giovanni Coppola; Alexander R Judkins; Marco Giovannini
Journal:  Nat Commun       Date:  2017-08-21       Impact factor: 14.919

10.  The spectrum of SWI/SNF mutations, ubiquitous in human cancers.

Authors:  A Hunter Shain; Jonathan R Pollack
Journal:  PLoS One       Date:  2013-01-23       Impact factor: 3.240

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  1 in total

Review 1.  Neurocutaneous syndromes in art and antiquities.

Authors:  Martino Ruggieri; Amalia Egle Gentile; Vincenza Ferrara; Massimo Papi; Andrea D Praticò; Albert Mudry; Domenica Taruscio; Giuseppe Micali; Agata Polizzi
Journal:  Am J Med Genet C Semin Med Genet       Date:  2021-05-20       Impact factor: 3.908

  1 in total

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