Results 11 to 20 of about 23,942 (228)

Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1 [PDF]

, 2020
Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors.
Allaway, Robert J, Baker, Aaron, Banerjee, Jineta, Blakeley, Jaishri O, Gosline, Sara Jc, Greene, Casey S, Guinney, Justin, Hirbe, Angela, Moon, Chang In, Pratilas, Christine A, Taroni, Jaclyn N, Zhang, Xiaochun   +11 more
core   +2 more sources

Maternal gene effect in neurofibromatosis 2: fact or artefact? [PDF]

Journal of Medical Genetics, 2001
Editor—Neurofibromatosis 2 (NF2) is a rare autosomal dominant disease that is characterised by benign nervous system tumours, skin lesions, and ocular abnormalities.1-3 Two studies have found that NF2 patients with a family history of the disease and with maternal inheritance have more severe disease than inherited cases with paternal inheritance ...
Michael E Baser, J M Friedman, D Gareth R Evans   +2 more
openaire   +1 more source

Understanding intellectual disability through RASopathies [PDF]

, 2014
Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael, San Martín, Alvaro   +1 more
core   +1 more source

The 4q12 amplicon in malignant peripheral nerve sheath tumors: consequences on gene expression and implications for sunitinib treatment. [PDF]

PLoS ONE, 2010
Malignant peripheral nerve sheath tumors (MPNST) are highly aggressive tumors which originate from Schwann cells and develop in about 10% of neurofibromatosis type 1 (NF1) patients.
Jan Zietsch, Nicolas Ziegenhagen, Frank L Heppner, David Reuss, Andreas von Deimling, Nikola Holtkamp   +5 more
doaj   +1 more source

Gene replacement therapy in a schwannoma mouse model of neurofibromatosis type 2

Molecular Therapy - Methods & Clinical Development, 2022
Loss of function of the neurofibromatosis type 2 (NF2) tumor suppressor gene leads to the formation of schwannomas, meningiomas, and ependymomas, comprising ∼50% of all sporadic cases of primary nervous system tumors. NF2 syndrome is an autosomal dominant condition, with bi-allelic inactivation of germline and somatic alleles resulting in loss of ...
Shilpa Prabhakar, Roberta L. Beauchamp, Pike See Cheah, Akiko Yoshinaga, Edwina Abou Haidar, Sevda Lule, Gayathri Mani, Katia Maalouf, Anat Stemmer-Rachamimov, David H. Jung, D. Bradley Welling, Marco Giovannini, Scott R. Plotkin, Casey A. Maguire, Vijaya Ramesh, Xandra O. Breakefield   +15 more
openaire   +6 more sources

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 more
core   +3 more sources

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Molecular Genetics & Genomic Medicine, 2020
Background RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectrum ...
Leora Witkowski, Mitchell W. Dillon, Elissa Murphy, Matthew SLebo, Heather Mason‐Suares   +4 more
doaj   +1 more source

Neurofibromatosis 2 and Neurilemmomatosis Gene Are Identical

Journal of Investigative Dermatology, 1995
Neurofibromatosis 2 (NF2) is an autosomal dominant disorder characterized by the occurrence of bilateral acoustic neuromas, as well as meningiomas and schwannomas. The gene locus for NF2 resides on chromosome 22q12 and has been cloned recently. Neurilemmomatosis is characterized by multiple cutaneous and spinal neurilemmomas without other signs of NF1 ...
Honda, Mariko, Arai, Eiko, Sawada, Schunichi, Ohta, Arihito, Niimura, Michihito   +4 more
openaire   +2 more sources

Mouse Models of Neurofibromatosis 1 and 2

Neoplasia: An International Journal for Oncology Research, 2002
The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
doaj   +1 more source

Gender dimorphism and age of onset in malignant peripheral nerve sheath tumor preclinical models and human patients. [PDF]

, 2014
BackgroundGender-based differences in disease onset in murine models of malignant peripheral nerve sheath tumor (MPNST) and in patients with Neurofibromatosis type-1-(NF-1)-associated or spontaneous MPNST has not been well studied.MethodsForty-three ...
Dry, Sarah M, Eilber, Fritz C, Federman, Noah, Li, Yunfeng, Nakashima, Jonathan, Shurell, Elizabeth, Smith, Kathleen B, Tam, Brenna M, Tap, William D, Tran, Linh M, Wu, Hong   +10 more
core   +2 more sources