(Q48465073)

11 February 2018

title

Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas. (English)

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11 February 2018

author name string

Katharina Wimmer

1

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11 February 2018

Markus Eckart

2

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11 February 2018

Birgit Meyer-Puttlitz

3

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11 February 2018

Christa Fonatsch

4

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11 February 2018

Torsten Pietsch

5

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11 February 2018

publication date

1 October 2002

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11 February 2018

Journal of Neuropathology & Experimental Neurology

published in

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11 February 2018

volume

61

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11 February 2018

page(s)

896-902

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11 February 2018

issue

10

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11 February 2018

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

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Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

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Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene

21 January 2018

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Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain.

21 January 2018

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A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity

21 January 2018

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Loss of NF1 alleles distinguish sporadic from NF1-associated pilocytic astrocytomas.

21 January 2018

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Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas.

21 January 2018

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Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation

21 January 2018

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Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signaling in a neurofibromatosis 1 astrocytoma.

21 January 2018

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Deletions on the long arm of chromosome 17 in pilocytic astrocytoma.

21 January 2018

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Analysis of pilocytic astrocytoma by comparative genomic hybridization.

21 January 2018

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The WHO classification of tumors of the nervous system

21 January 2018

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Microsatellite analysis of loss of heterozygosity on chromosomes 9q, 11p and 17p in medulloblastomas

21 January 2018

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Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

21 January 2018

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Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

21 January 2018

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An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene.

21 January 2018

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Quantitative mRNA analysis of five C-terminal splice variants of the human 5-HT4 receptor in the central nervous system by TaqMan real time RT-PCR.

21 January 2018

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Quantification of splice variants using real-time PCR

21 January 2018

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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

21 January 2018

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Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.

21 January 2018

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Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation

21 January 2018

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The two types of mRNAs for neurofibromin isoforms produced by von Recklinghausen neurofibromatosis (NF1) gene: analysis in human astrocytic tumors.

21 January 2018

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Urinary bladder transitional cell carcinogenesis is associated with down-regulation of NF1 tumor suppressor gene in vivo and in vitro

21 January 2018

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Loss of neurofibromatosis type I (NF1) gene expression in pheochromocytomas from patients without NF1.

21 January 2018

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Advances in quantitative PCR technology: 5' nuclease assays

21 January 2018

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https://api.crossref.org/works/10.1093%2FJNEN%2F61.10.896

Real time quantitative PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.10.896

Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.10.896

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.10.896

21 January 2018

Identifiers

DOI

10.1093/JNEN/61.10.896

1 reference

11 February 2018

PubMed ID

12387455

1 reference

11 February 2018