Literature DB >> 16773574

Double inactivation of NF1 in tibial pseudarthrosis.

David A Stevenson1, Holly Zhou, Shadi Ashrafi, Ludwine M Messiaen, John C Carey, Jacques L D'Astous, Stephen D Santora, David H Viskochil.   

Abstract

Osseous abnormalities, including long-bone dysplasia with pseudarthrosis (PA), are associated with neurofibromatosis type 1 (NF1). Prospectively acquired tissue from the PA site of two individuals with NF1 was used for immunohistochemical characterization and genotype analysis of the NF1 locus. Typical immunohistochemical features of neurofibroma were not observed. Genotype analysis of PA tissue with use of four genetic markers (D17S1863, GXALU, IN38, and 3NF1-1) spanning the NF1 locus demonstrated loss of heterozygosity. These results are the first to document double inactivation of NF1 in PA tissue and suggest that the neurofibromin-Ras signal transduction pathway is involved in this bone dysplasia in NF1.

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Year:  2006        PMID： 16773574      PMCID： PMC1474128          DOI： 10.1086/504441

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  19 in total

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Journal:  South Med J       Date:  1975-07       Impact factor: 0.954

Review 5.  Von Recklinghausen neurofibromatosis.

Authors:  V M Riccardi
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7.  Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1.

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Authors:  L M Messiaen; T Callens; G Mortier; D Beysen; I Vandenbroucke; N Van Roy; F Speleman; A D Paepe
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  48 in total

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7.  Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.

Authors:  Rebecca L Margraf; Chad VanSant-Webb; David Sant; John Carey; Heather Hanson; Jacques D'Astous; Dave Viskochil; David A Stevenson; Rong Mao
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8.  Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

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9.  Effects of resveratrol on the proliferation and osteogenic differentiation of deciduous dental pulp stem cells from neurofibromatosis type 1 patient.

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