(Q41176229)

27 September 2017

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title

Neurofibromatosis and associated tumour suppressor genes (English)

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27 September 2017

Zwarthoff EC

1

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27 September 2017

publication date

1 July 1996

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Pathology, Research and Practice

27 September 2017

published in

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27 September 2017

volume

192

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27 September 2017

issue

7

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27 September 2017

page(s)

647-657

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Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene

27 September 2017

cites work

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7 January 2021

Wizardry at the cell cortex

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7 January 2021

Ezrin contains cytoskeleton and membrane binding domains accounting for its proposed role as a membrane-cytoskeletal linker

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7 January 2021

Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines

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7 January 2021

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

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7 January 2021

Microinjection of the ras oncogene protein into PC12 cells induces morphological differentiation

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7 January 2021

Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients

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7 January 2021

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types

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7 January 2021

Analysis of mutations in theSCH gene in schwannomas

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7 January 2021

Ras regulation. NF is enough of GAP

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7 January 2021

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

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7 January 2021

Eleven novel mutations in the NF2 tumour suppressor gene

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7 January 2021

Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues

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7 January 2021

Talin: A cytoskeletal component concentrated in adhesion plaques and other sites of actin-membrane interaction

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7 January 2021

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

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7 January 2021

Positional cloning: let's not call it reverse anymore

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7 January 2021

Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis

1 reference

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7 January 2021

Methods for rapid detection of a recurrent nonsense mutation and documentation of phenotypic features in neurofibromatosis type 1 patients.

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7 January 2021

The pathway to signal achievement

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7 January 2021

Loss of heterozygosity on chromosome 22 in ovarian carcinoma is distal to and is not accompanied by mutations in NF2 at 22q12.

1 reference

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7 January 2021

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

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7 January 2021

Familial reciprocal translocation t(17;19) (q11.2;q13.2) associated with neurofibromatosis type 1, including one patient with non-Hodgkin lymphoma and an additional t(14;20) in B lymphocytes

1 reference

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7 January 2021

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Analysis of theNF2 tumor-suppressor gene and of chromosome 22 deletions in gliomas

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Tumour predisposition in mice heterozygous for a targeted mutation in Nf1

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Exon scanning for mutation of the NF2 gene in schwannomas

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Neurofibromin can inhibit Ras-dependent growth by a mechanism independent of its GTPase-accelerating function

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected]

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Antioncogenes and human cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

TP53 mutations are frequent in malignant NF1 tumors

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Somatic mutations in the neurofibromatosis 1 gene in human tumors

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Genomic organization of the neurofibromatosis 1 gene (NF1).

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Molecular links between the cytoskeleton and membranes

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7 January 2021

1 reference

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7 January 2021

The molecular biology of human glial tumors

1 reference

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7 January 2021

Predominant occurrence of somatic mutations of theNF2 gene in meningiomas and schwannomas

1 reference

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7 January 2021

Screening for germ-line mutations in the NF2 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis

1 reference

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7 January 2021

Familial anaplastic ependymoma: evidence of loss of chromosome 22 in tumour cells

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Two NF1 translocations map within a 600-kilobase segment of 17q11.2.

1 reference

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7 January 2021

Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

NF1: a prevalent cause of tumorigenesis in human cancers?

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Linkage of NF1 to 12 chromosome 17 markers: a summary of eight concurrent reports

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Perturbation of cell adhesion and microvilli formation by antisense oligonucleotides to ERM family members

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7 January 2021

Neurofibromatosis type 1 gene mutations in neuroblastoma

1 reference

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7 January 2021

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

ERM family members as molecular linkers between the cell surface glycoprotein CD44 and actin-based cytoskeletons

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7 January 2021

A new 82-kD barbed end-capping protein (radixin) localized in the cell-to-cell adherens junction: purification and characterization

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Ezrin has a COOH-terminal actin-binding site that is conserved in the ezrin protein family

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

The neurofibromatosis type 2 gene is inactivated in schwannomas

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2896%2980086-0

7 January 2021

10.1016/S0344-0338(96)80086-0

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DOI

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