Literature DB >> 21271647

Back to the future: proceedings from the 2010 NF Conference.

Susan M Huson1, Maria T Acosta, Allan J Belzberg, Andre Bernards, Jonathan Chernoff, Karen Cichowski, D Gareth Evans, Rosalie E Ferner, Marco Giovannini, Bruce R Korf, Robert Listernick, Kathryn N North, Roger J Packer, Luis F Parada, Juha Peltonen, Vijaya Ramesh, Karlyne M Reilly, John W Risner, Elizabeth K Schorry, Meena Upadhyaya, David H Viskochil, Yuan Zhu, Kim Hunter-Schaedle, Filippo G Giancotti.   

Abstract

The neurofibromatoses (NF) encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect 100,000 Americans; over 2 million persons worldwide; and are caused by mutation of tumor suppressor genes. Individuals with NF1 in particular may develop tumors anywhere in the nervous system; additional manifestations can include learning disabilities, bone dysplasia, cardiovascular defects, unmanageable pain, and physical disfigurement. Ultimately, the NFs can cause blindness, deafness, severe morbidity, and increased mortality and NF1 includes a risk of malignant cancer. Today there is no treatment for the NFs (other than symptomatic); however, research efforts to understand these genetic conditions have made tremendous strides in the past few years. Progress is being made on all fronts, from discovery studies-understanding the molecular signaling deficits that cause the manifestations of NF-to the growth of preclinical drug screening initiatives and the emergence of a number of clinical trials. An important element in fuelling this progress is the sharing of knowledge, and to this end, for over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share ideas and build collaborations. The 2010 NF Conference held in Baltimore, MD June 5-8, 2010 hosted over 300 NF researchers and clinicians. This paper provides a synthesis of the highlights presented at the Conference and as such, is a "state-of-the-field" for NF research in 2010.
Copyright © 2010 Wiley-Liss, Inc.

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Year:  2010        PMID: 21271647      PMCID: PMC3079924          DOI: 10.1002/ajmg.a.33804

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


  32 in total

Review 1.  Plexiform neurofibroma genesis: questions of Nf1 gene dose and hyperactive mast cells.

Authors:  Karl Staser; Feng-Chun Yang; David W Clapp
Journal:  Curr Opin Hematol       Date:  2010-07       Impact factor: 3.284

2.  Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.

Authors:  Wei Li; Liru You; Jonathan Cooper; Gaia Schiavon; Angela Pepe-Caprio; Lu Zhou; Ryohei Ishii; Marco Giovannini; C Oliver Hanemann; Stephen B Long; Hediye Erdjument-Bromage; Pengbo Zhou; Paul Tempst; Filippo G Giancotti
Journal:  Cell       Date:  2010-02-19       Impact factor: 41.582

3.  An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

Authors:  D F Easton; M A Ponder; S M Huson; B A Ponder
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

4.  Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects.

Authors:  Karlyne M Reilly; Robert G Tuskan; Emily Christy; Dagan A Loisel; Jeremy Ledger; Roderick T Bronson; C Dahlem Smith; Shirley Tsang; David J Munroe; Tyler Jacks
Journal:  Proc Natl Acad Sci U S A       Date:  2004-08-19       Impact factor: 11.205

5.  Nf1 mutation expands an EGFR-dependent peripheral nerve progenitor that confers neurofibroma tumorigenic potential.

Authors:  Jon P Williams; Jianqiang Wu; Gunnar Johansson; Tilat A Rizvi; Shyra C Miller; Hartmut Geiger; Punam Malik; Wenling Li; Yoh-suke Mukouyama; Jose A Cancelas; Nancy Ratner
Journal:  Cell Stem Cell       Date:  2008-12-04       Impact factor: 24.633

6.  Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Authors:  Ludwine Messiaen; Suxia Yao; Hilde Brems; Tom Callens; Achara Sathienkijkanchai; Ellen Denayer; Emily Spencer; Pamela Arn; Dusica Babovic-Vuksanovic; Carolyn Bay; Gary Bobele; Bruce H Cohen; Luis Escobar; Deborah Eunpu; Theresa Grebe; Robert Greenstein; Rachel Hachen; Mira Irons; David Kronn; Edmond Lemire; Kathleen Leppig; Cynthia Lim; Marie McDonald; Vinodh Narayanan; Amy Pearn; Robert Pedersen; Berkley Powell; Lawrence R Shapiro; David Skidmore; David Tegay; Heidi Thiese; Elaine H Zackai; Raymon Vijzelaar; Koji Taniguchi; Toranoshin Ayada; Fuyuki Okamoto; Akihiko Yoshimura; Annabel Parret; Bruce Korf; Eric Legius
Journal:  JAMA       Date:  2009-11-18       Impact factor: 56.272

7.  Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Authors:  Hilde Brems; Magdalena Chmara; Mourad Sahbatou; Ellen Denayer; Koji Taniguchi; Reiko Kato; Riet Somers; Ludwine Messiaen; Sofie De Schepper; Jean-Pierre Fryns; Jan Cools; Peter Marynen; Gilles Thomas; Akihiko Yoshimura; Eric Legius
Journal:  Nat Genet       Date:  2007-08-19       Impact factor: 38.330

8.  Mast cells can contribute to axon-glial dissociation and fibrosis in peripheral nerve.

Authors:  Kelly R Monk; Jianqiang Wu; Jon P Williams; Brenda A Finney; Maureen E Fitzgerald; Marie-Dominique Filippi; Nancy Ratner
Journal:  Neuron Glia Biol       Date:  2007-08

9.  Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2.

Authors:  D Gareth Evans; Marco Giovannini; Michel Kalamarides; Kim Hunter-Schaedle; Jaishri Blakeley; Jeffrey Allen; Dusica Babovic-Vuskanovic; Allan Belzberg; Gideon Bollag; Ruihong Chen; Emmanuelle DiTomaso; John Golfinos; Gordon Harris; Abraham Jacob; Ganjam Kalpana; Matthias Karajannis; Bruce Korf; Razelle Kurzrock; Meng Law; Andrea McClatchey; Roger Packer; Pamela Roehm; Allan Rubenstein; William Slattery; James H Tonsgard; D Bradley Welling; Brigitte Widemann; Kaleb Yohay
Journal:  Clin Cancer Res       Date:  2009-08-11       Impact factor: 12.531

10.  Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

Authors:  Qing Wang; Gilles Montmain; Eric Ruano; Meena Upadhyaya; Sandra Dudley; R Michael Liskay; Stephen N Thibodeau; Alain Puisieux
Journal:  Hum Genet       Date:  2002-11-21       Impact factor: 4.132

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  8 in total

Review 1.  Neurological diseases and pain.

Authors:  David Borsook
Journal:  Brain       Date:  2011-11-08       Impact factor: 13.501

2.  Galectin-1 inhibition induces cell apoptosis through dual suppression of CXCR4 and Ras pathways in human malignant peripheral nerve sheath tumors.

Authors:  Tsung-Chieh Shih; Yunpeng Fan; Sophie Kiss; Xiaocen Li; Xiaojun Nicole Deng; Ruiwu Liu; Xiao-Jia Chen; Randy Carney; Amanda Chen; Paramita M Ghosh; Kit S Lam
Journal:  Neuro Oncol       Date:  2019-11-04       Impact factor: 12.300

3.  A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.

Authors:  Rosario Caltabiano; Gaetano Magro; Agata Polizzi; Andrea Domenico Praticò; Andrea Ortensi; Valerio D'Orazi; Andrea Panunzi; Pietro Milone; Luigi Maiolino; Francesco Nicita; Gabriele Lorenzo Capone; Roberta Sestini; Irene Paganini; Mariella Muglia; Sebastiano Cavallaro; Salvatore Lanzafame; Laura Papi; Martino Ruggieri
Journal:  Childs Nerv Syst       Date:  2017-04-01       Impact factor: 1.475

4.  Therapeutics for childhood neurofibromatosis type 1 and type 2.

Authors:  Simone L Ardern-Holmes; Kathryn N North
Journal:  Curr Treat Options Neurol       Date:  2011-12       Impact factor: 3.598

5.  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

6.  Development of the adult PedsQL™ neurofibromatosis type 1 module: initial feasibility, reliability and validity.

Authors:  Kavitha Nutakki; Cynthia M Hingtgen; Patrick Monahan; James W Varni; Nancy L Swigonski
Journal:  Health Qual Life Outcomes       Date:  2013-02-21       Impact factor: 3.186

7.  Diffuse large B cell lymphoma presenting as Horner's syndrome in a patient diagnosed with neurofibromatosis type 1: a case report and review of the literature.

Authors:  Saoraya Lueangarun; Chirayu U Auewarakul
Journal:  J Med Case Rep       Date:  2012-01-11

8.  Co-targeting the MAPK and PI3K/AKT/mTOR pathways in two genetically engineered mouse models of schwann cell tumors reduces tumor grade and multiplicity.

Authors:  Adrienne L Watson; Leah K Anderson; Andrew D Greeley; Vincent W Keng; Eric P Rahrmann; Amanda L Halfond; Natasha M Powell; Margaret H Collins; Tilat Rizvi; Christopher L Moertel; Nancy Ratner; David A Largaespada
Journal:  Oncotarget       Date:  2014-03-30
  8 in total

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