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Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
TLDR
Neither frequent deamination of 5-methylcytosines nor interchromosomal gene conversion may account for the high mutation rate of the NF1 gene, as determined in this study.
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
TLDR
It is shown that the mutation R1276P, unlike previously reported missense mutations of the GRD region, does not impair the secondary and tertiary protein structure, but it does completely disable GAP activity.
Cell shape normalization, dendrite orientation, and melanin production of normal and genetically altered (haploinsufficient NF1)-melanocytes by microstructured substrate interactions.
TLDR
It is shown that morphology consequences of genetically altered melanocytes can be canceled if cells interact with substrates microstructured by stripes that apply mechanophysical signals in the form of physical topography.
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
TLDR
These findings prove the hypothesis that the molecular basis of segmental cutaneous NF is a mutation in the NF1 gene and that the regional distribution of manifestations reflects different cell clones, commensurate with the concept of somatic mosaicism.
Cell orientation by a microgrooved substrate can be predicted by automatic control theory.
TLDR
The model of the cellular automatic controller is extended to include the case of different guiding signals acting simultaneously, and the predicted dependence of the cell response to height and spatial frequency of the grooves is obtained by considering the symmetry of the system.
Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
TLDR
Calculations of minimum-free-energy structures of the respective regions suggest that both changes in the secondary structure of the mRNA and creation or disruption of exonic sequences relevant for the splicing process might in fact cause these different splice phenomena observed in the NF1 gene.
On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1.
TLDR
The ratio of the amount of neurofibromin to that of p120 GAP did not seem to be correlated with the extent of unequal allelic expression, indicating that unequal expression on the level of mRNA was not caused by mutations affecting transcriptional regulation.
Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14‐PH module of neurofibromin
TLDR
Although lipid binding appears to be preserved among most nontruncating mutants, the authors see major structural changes for two of the alterations and suggest the presence of an intermolecular contact surface in the lid‐lock region of the protein.
Unequal expression of NF1 alleles
Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2.
TLDR
The increase in aberrant splicing caused by environmental factors represents an additional mechanism for the reduction of the amount of tumor suppressor mRNA in the absence of relevant mutations in the tumor.
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