Results 131 to 140 of about 22,652 (194)

Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1. [PDF]

Orphanet J Rare Dis
Clissa PB, Sanabani SS.
europepmc   +1 more source

Inhibition of Cxcr4 chemokine receptor signaling improves habituation learning in a zebrafish model of neurofibromatosis. [PDF]

Dis Model Mech
Miller AH, Yang Y, Schmidt N, Mathiaparanam J, Berres ME, Halloran MC.   +5 more
europepmc   +1 more source

Valosin-Containing Protein Contributes to Plexiform Neurofibroma Formation and Represents a Novel Therapeutic Target. [PDF]

Cells
Gopalan L, Na Y, Hu L, Hall A, Kim MO, Dombi E, Szabo S, Ratner N, Huang G, Wu J.   +9 more
europepmc   +1 more source

Identification of small molecules that enhance aminoglycoside-mediated suppression of <i>CFTR</i> and <i>NF1</i> nonsense mutations. [PDF]

Mol Ther Oncol
Sammons J, Chen J, Thrasher K, Fu L, Du M, Wen H, Bostwick JR, Vinson P, Moukha-Chafiq O, Augelli-Szafran C, Keeling KM, Wallis D, Kesterson RA, Rowe SM, Bedwell DM.   +14 more
europepmc   +1 more source

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas. [PDF]

PLoS One
Li H, Pemov A, Allaway R, Muir DF, Chang LJ, Banerjee J, Scott AJ, Nagy JMW, Liu J, Carrió M, Mazuelas H, Yachnis A, Lee SY, Zhang X, Lyu Y, Stewart DR, Hirbe A, Blakeley JO, Serra E, Wallis D, Wallace MR.   +20 more
europepmc   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276. [PDF]

FEBS Open Bio
Selig M, Lohse S, Elahi S, Hartmann N, Deckert S, Si S, Desuki A, Harder A.   +7 more
europepmc   +1 more source

Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case. [PDF]

BMC Cancer, 2015
Belinsky MG, Rink L, Cai KQ, Capuzzi SJ, Hoang Y, Chien J, Godwin AK, von Mehren M.   +7 more
europepmc   +1 more source

Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations. [PDF]

MedComm (2020)
Kim S, Do H, Heo SH, Kang M, Hwang S, Kim D, Chang MH, Kim K, Lee BH.   +8 more
europepmc   +1 more source