Literature DB >> 9874855

Parallels between tuberous sclerosis complex and neurofibromatosis 1: common threads in the same tapestry.

D H Gutmann1.   

Abstract

Neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC) represent two neurocutaneous disorders in which affected individuals develop tumors at an increased frequency. Although the clinical manifestations of these disorders are distinctive, the identification of the genes responsible for these disorders has demonstrated remarkable similarities on a molecular level between the NF1 and TSC tumor suppressor gene products. The NF1 and TSC2 gene products are hypothesized to function as growth regulators by modulating the activities of small GTPase molecules. The overlap between the functions of these tumor suppressor genes has yielded important insights into the molecular pathogenesis underlying each of these disorders and suggested possible pharmacological therapies specifically targeted for affected individuals.

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Year:  1998        PMID: 9874855     DOI: 10.1016/s1071-9091(98)80006-5

Source DB:  PubMed          Journal:  Semin Pediatr Neurol        ISSN: 1071-9091            Impact factor:   1.636


  2 in total

1.  Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis.

Authors:  Sami H Erbay; Stephen A Oljeski; Rafeeque Bhadelia
Journal:  AJNR Am J Neuroradiol       Date:  2004-01       Impact factor: 3.825

2.  The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1.

Authors:  Francesca Cervi; Veronica Saletti; Katherine Turner; Angela Peron; Sara Bulgheroni; Matilde Taddei; Francesca La Briola; Maria Paola Canevini; Aglaia Vignoli
Journal:  Orphanet J Rare Dis       Date:  2020-09-07       Impact factor: 4.123

  2 in total

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