XWH - 07 - 1 - 0249 TITLE : Role of neuron - specific splicing regulators as modifiers of neurofibromatosis type 1 PRINCIPAL

XWH - 05 - 1 - 0168 TITLE : Potassium Channels in Neurofibromatosis - 1 PRINCIPAL INVESTIGATOR :

XWH - 11 - 1 - 0243 TITLE : Ras - directed N - glycoproteins are novel early biomarkers for tumorigenesis and malignant transformation , and therapeutic targets of neurofibromatosis type I

XWH - 10 - 1 - 0469 TITLE : Genetic Evaluation for the Scoliosis Gene ( s ) in Patients with Neurofibromatosis 1 and Scoliosis

1 TITLE: Neurofibromatosis type I with Dystrophic Scoliosis: A Multicenter Inter-observer Reliability Study of Radiographic Characteristics AUTHORS (LAST NAME, FIRST NAME): Ledonio, Charles Gerald T.1; Polly, David W.1; Brearley, Ann M.1; Crawford, Alvin H.2; Sucato, Daniel J.3; Carreon, Leah Y.4; Larson, A. Noelle5; Stevenson, David6; Vitale, Michael G.7; Moertel, Christopher L.1 INSTITUTIONS ...

XWH - 05 - 1 - 0188 TITLE : Mouse Models of HRS - NF 2 Interaction PRINCIPAL INVESTIGATOR : Stefan

Hepatocyte growth factor-regulated tyrosine kinase substrate (HRS) is required for trafficking of cell surface receptors to thelysosome. Previously, we identified HRS as a protein that interacts with the neurofibromatosis 2 tumor suppressor schwannomin.In the present study, we established modified RT4 schwannoma cell lines that inducibly express HRS and constitutively express epi-de...

Regulation of neuron-specific alternative splicing of neurofibromatosis type 1 pre-mRNA.

Neurofibromatosis type 1 (NF1) is one of the most common heritable autosomal dominant disorders. Alternative splicing modulates the function of neurofibromin, the NF1 gene product, by inserting the in-frame exon 23a into the region of NF1 mRNA that encodes the GTPase-activating protein-related domain. This insertion, which is predominantly skipped in neurons, reduces the ability of neurofibromi...