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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.
More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. For each patient, the whole coding sequence and all splice sites were studied forExpand
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
Neurofibromatosis type 1 (NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas, café-au-lait spots (CLS), iris Lisch nodules, axillary freckling, opticExpand
Cell shape normalization, dendrite orientation, and melanin production of normal and genetically altered (haploinsufficient NF1)-melanocytes by microstructured substrate interactions.
Little is known about how functional regulation failure in genetically altered cells is influenced by topographical confinement of cells, a situation often present in tissues in vivo. We usedExpand
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1 (neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at the molecular level.Expand
Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
Stop mutations are known to disrupt gene function in different ways. They both give rise to truncated polypeptides because of the premature-termination codons (PTCs) and frequently affect theExpand
Age-dependent changes in microscale stiffness and mechanoresponses of cells.
Cellular ageing can lead to altered cell mechanical properties and is known to affect many fundamental physiological cell functions. To reveal age-dependent changes in cell mechanical properties andExpand
On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1.
The autosomal dominantly inherited disease neurofibromatosis type 1 (NF1) is caused by mutations of a large gene comprising 59 exons, which code for a protein with 2818 amino acids calledExpand
Cell orientation by a microgrooved substrate can be predicted by automatic control theory.
Cells have the ability to measure and respond to extracellular signals like chemical molecules and topographical surface features by changing their orientation. Here, we examined the orientation ofExpand
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.
Mutations at splice sites or surrounding sequences have been reported to cause aberrant splicing. However, splicing errors can also occur without sequence alterations. We investigated three tumorExpand