Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
about
Comprehensive genomic characterization defines human glioblastoma genes and core pathwaysEffect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and RasToward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.The neurofibromin GAP-related domain rescues endothelial but not neural crest development in Nf1 miceTherapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosisMitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1.Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.Structural analysis of the GAP-related domain from neurofibromin and its implicationsNext-generation sequencing identifies rare variants associated with Noonan syndromeClinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasComprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.Inhibition and termination of physiological responses by GTPase activating proteins.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.The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.Tumor expression of survivin, p53, cyclin D1, osteopontin and fibronectin in predicting the response to neo-adjuvant chemotherapy in children with advanced malignant peripheral nerve sheath tumor.Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
P2860
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P2860
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
@en
Mutational and functional analysis of the neurofibromatosis type 1
@nl
type
label
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
@en
Mutational and functional analysis of the neurofibromatosis type 1
@nl
prefLabel
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
@en
Mutational and functional analysis of the neurofibromatosis type 1
@nl
P2093
P356
P1433
P1476
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
@en
P2093
P2888
P356
10.1007/S004390050317
P577
1997-01-01T00:00:00Z