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

doi:10.1038/363515a0

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

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

Nature - 10 Jun 1993

Rouleau G A, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B

Abstract excerpt

Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system tumours. To identify the genetic defect, the region between two flanking polymorphic markers on chromosome 22 was cloned and several genes identified. One is the site of germ-line mutations in NF2 patients and of somatic mutations in NF2-related tumours. Its deduced product has homology with...

Topics

Amino Acid Sequence
Animals
Base Sequence
Cell Line
Chromosome Deletion
Chromosomes, Human, Pair 22
Cloning, Molecular
DNA, Neoplasm
Genes, Neurofibromatosis 2
Germ Cells
HeLa Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hybrid Cells

Membrane Proteins

Mice

Molecular Sequence Data

Mutation

Neoplasm Proteins

Source

Open in PubMed

Identifiers

PMID: 8379998
DOI: 10.1038/363515a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.PMID 8379998Read ↗

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.Semantic proximity Read ↗

Neuropathology and Molecular Genetics of Neurofibromatosis 2 and Related TumorsSemantic proximity Read ↗

Screening for germ-line mutations in the NF2 gene.Semantic proximity Read ↗

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas.Semantic proximity Read ↗

Neurofibromatosis 2 and neurilemmomatosis gene are identical.Semantic proximity Read ↗

Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas.Semantic proximity Read ↗

Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma.Semantic proximity Read ↗

The neurofibromatosis type 2 gene is inactivated in schwannomasSemantic proximity Read ↗

Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study.Semantic proximity Read ↗

[Neurofibromatosis type 2 (NF2)--classical example of a rare familial cancer syndrome].Semantic proximity Read ↗

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.Semantic proximity Read ↗

DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.