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CTF Meeting 2012: Translation of the Basic Understanding of the Biology and Genetics of NF1, NF2, and Schwannomatosis Toward the Development of Effective Therapies

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CTF Meeting 2012 : Translation of the Basic Understanding of the Biology and Genetics of NF1, NF2, and Schwannomatosis Toward the Development of Effective Therapies. / Widemann, Brigitte C.; Acosta, Maria T.; Ammoun, Sylvia; Belzberg, Allan J.; Bernards, Andre; Blakeley, Jaishri; Bretscher, Antony; Cichowski, Karen; Clapp, D. Wade; Dombi, Eva; Evans, Gareth D.; Ferner, Rosalie; Fernandez-Valle, Cristina; Fisher, Michael J.; Giovannini, Marco; Gutmann, David H.; Hanemann, C. Oliver; Hennigan, Robert; Huson, Susan; Ingram, David; Kissil, Joe; Korf, Bruce R.; Legius, Eric; Packer, Roger J.; McClatchey, Andrea I.; McCormick, Frank; North, Kathryn; Pehrsson, Minja; Plotkin, Scott R.; Ramesh, Vijaya; Ratner, Nancy; Schirmer, Susann; Sherman, Larry; Schorry, Elizabeth; Stevenson, David; Stewart, Douglas R.; Ullrich, Nicole; Bakker, Annette C.; Morrison, Helen.

In: American Journal of Medical Genetics. Part A, Vol. 164, No. 3, 03.2014, p. 563-578.

Research output: Contribution to journalArticle

Harvard

Widemann, BC, Acosta, MT, Ammoun, S, Belzberg, AJ, Bernards, A, Blakeley, J, Bretscher, A, Cichowski, K, Clapp, DW, Dombi, E, Evans, GD, Ferner, R, Fernandez-Valle, C, Fisher, MJ, Giovannini, M, Gutmann, DH, Hanemann, CO, Hennigan, R, Huson, S, Ingram, D, Kissil, J, Korf, BR, Legius, E, Packer, RJ, McClatchey, AI, McCormick, F, North, K, Pehrsson, M, Plotkin, SR, Ramesh, V, Ratner, N, Schirmer, S, Sherman, L, Schorry, E, Stevenson, D, Stewart, DR, Ullrich, N, Bakker, AC & Morrison, H 2014, 'CTF Meeting 2012: Translation of the Basic Understanding of the Biology and Genetics of NF1, NF2, and Schwannomatosis Toward the Development of Effective Therapies', American Journal of Medical Genetics. Part A, vol. 164, no. 3, pp. 563-578. https://doi.org/10.1002/ajmg.a.36312

APA

Widemann, B. C., Acosta, M. T., Ammoun, S., Belzberg, A. J., Bernards, A., Blakeley, J., Bretscher, A., Cichowski, K., Clapp, D. W., Dombi, E., Evans, G. D., Ferner, R., Fernandez-Valle, C., Fisher, M. J., Giovannini, M., Gutmann, D. H., Hanemann, C. O., Hennigan, R., Huson, S., ... Morrison, H. (2014). CTF Meeting 2012: Translation of the Basic Understanding of the Biology and Genetics of NF1, NF2, and Schwannomatosis Toward the Development of Effective Therapies. American Journal of Medical Genetics. Part A, 164(3), 563-578. https://doi.org/10.1002/ajmg.a.36312

Vancouver

Widemann BC, Acosta MT, Ammoun S, Belzberg AJ, Bernards A, Blakeley J et al. CTF Meeting 2012: Translation of the Basic Understanding of the Biology and Genetics of NF1, NF2, and Schwannomatosis Toward the Development of Effective Therapies. American Journal of Medical Genetics. Part A. 2014 Mar;164(3):563-578. https://doi.org/10.1002/ajmg.a.36312

Author

Widemann, Brigitte C. ; Acosta, Maria T. ; Ammoun, Sylvia ; Belzberg, Allan J. ; Bernards, Andre ; Blakeley, Jaishri ; Bretscher, Antony ; Cichowski, Karen ; Clapp, D. Wade ; Dombi, Eva ; Evans, Gareth D. ; Ferner, Rosalie ; Fernandez-Valle, Cristina ; Fisher, Michael J. ; Giovannini, Marco ; Gutmann, David H. ; Hanemann, C. Oliver ; Hennigan, Robert ; Huson, Susan ; Ingram, David ; Kissil, Joe ; Korf, Bruce R. ; Legius, Eric ; Packer, Roger J. ; McClatchey, Andrea I. ; McCormick, Frank ; North, Kathryn ; Pehrsson, Minja ; Plotkin, Scott R. ; Ramesh, Vijaya ; Ratner, Nancy ; Schirmer, Susann ; Sherman, Larry ; Schorry, Elizabeth ; Stevenson, David ; Stewart, Douglas R. ; Ullrich, Nicole ; Bakker, Annette C. ; Morrison, Helen. / CTF Meeting 2012 : Translation of the Basic Understanding of the Biology and Genetics of NF1, NF2, and Schwannomatosis Toward the Development of Effective Therapies. In: American Journal of Medical Genetics. Part A. 2014 ; Vol. 164, No. 3. pp. 563-578.

Bibtex Download

@article{a798a968752c485e8e807ca894e8377c,
title = "CTF Meeting 2012: Translation of the Basic Understanding of the Biology and Genetics of NF1, NF2, and Schwannomatosis Toward the Development of Effective Therapies",
abstract = "The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF-related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a state-of-the-field for NF research in 2012.",
keywords = "neurofibromatosis type 1, neurofibromatosis type 2, NF1, NF2, schwannomatosis, tumor suppressor, SMARCB1, merlin neurofibromin, preclinical models, HISTONE DEACETYLASE INHIBITOR, NEUROFIBROMATOSIS TYPE-2, VESTIBULAR SCHWANNOMAS, FAMILIAL SCHWANNOMATOSIS, SPORADIC SCHWANNOMATOSIS, RETROSPECTIVE ANALYSIS, MULTIPLE MENINGIOMAS, DIAGNOSTIC-CRITERIA, SMARCB1 MUTATIONS, CLINICAL ARTICLE",
author = "Widemann, {Brigitte C.} and Acosta, {Maria T.} and Sylvia Ammoun and Belzberg, {Allan J.} and Andre Bernards and Jaishri Blakeley and Antony Bretscher and Karen Cichowski and Clapp, {D. Wade} and Eva Dombi and Evans, {Gareth D.} and Rosalie Ferner and Cristina Fernandez-Valle and Fisher, {Michael J.} and Marco Giovannini and Gutmann, {David H.} and Hanemann, {C. Oliver} and Robert Hennigan and Susan Huson and David Ingram and Joe Kissil and Korf, {Bruce R.} and Eric Legius and Packer, {Roger J.} and McClatchey, {Andrea I.} and Frank McCormick and Kathryn North and Minja Pehrsson and Plotkin, {Scott R.} and Vijaya Ramesh and Nancy Ratner and Susann Schirmer and Larry Sherman and Elizabeth Schorry and David Stevenson and Stewart, {Douglas R.} and Nicole Ullrich and Bakker, {Annette C.} and Helen Morrison",
year = "2014",
month = mar,
doi = "10.1002/ajmg.a.36312",
language = "English",
volume = "164",
pages = "563--578",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "3",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - CTF Meeting 2012

T2 - Translation of the Basic Understanding of the Biology and Genetics of NF1, NF2, and Schwannomatosis Toward the Development of Effective Therapies

AU - Widemann, Brigitte C.

AU - Acosta, Maria T.

AU - Ammoun, Sylvia

AU - Belzberg, Allan J.

AU - Bernards, Andre

AU - Blakeley, Jaishri

AU - Bretscher, Antony

AU - Cichowski, Karen

AU - Clapp, D. Wade

AU - Dombi, Eva

AU - Evans, Gareth D.

AU - Ferner, Rosalie

AU - Fernandez-Valle, Cristina

AU - Fisher, Michael J.

AU - Giovannini, Marco

AU - Gutmann, David H.

AU - Hanemann, C. Oliver

AU - Hennigan, Robert

AU - Huson, Susan

AU - Ingram, David

AU - Kissil, Joe

AU - Korf, Bruce R.

AU - Legius, Eric

AU - Packer, Roger J.

AU - McClatchey, Andrea I.

AU - McCormick, Frank

AU - North, Kathryn

AU - Pehrsson, Minja

AU - Plotkin, Scott R.

AU - Ramesh, Vijaya

AU - Ratner, Nancy

AU - Schirmer, Susann

AU - Sherman, Larry

AU - Schorry, Elizabeth

AU - Stevenson, David

AU - Stewart, Douglas R.

AU - Ullrich, Nicole

AU - Bakker, Annette C.

AU - Morrison, Helen

PY - 2014/3

Y1 - 2014/3

N2 - The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF-related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a state-of-the-field for NF research in 2012.

AB - The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF-related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a state-of-the-field for NF research in 2012.

KW - neurofibromatosis type 1

KW - neurofibromatosis type 2

KW - NF1

KW - NF2

KW - schwannomatosis

KW - tumor suppressor

KW - SMARCB1

KW - merlin neurofibromin

KW - preclinical models

KW - HISTONE DEACETYLASE INHIBITOR

KW - NEUROFIBROMATOSIS TYPE-2

KW - VESTIBULAR SCHWANNOMAS

KW - FAMILIAL SCHWANNOMATOSIS

KW - SPORADIC SCHWANNOMATOSIS

KW - RETROSPECTIVE ANALYSIS

KW - MULTIPLE MENINGIOMAS

KW - DIAGNOSTIC-CRITERIA

KW - SMARCB1 MUTATIONS

KW - CLINICAL ARTICLE

U2 - 10.1002/ajmg.a.36312

DO - 10.1002/ajmg.a.36312

M3 - Article

VL - 164

SP - 563

EP - 578

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 3

ER -

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