PMID- 8379998
OWN - NLM
STAT- MEDLINE
DCOM- 19930702
LR  - 20220331
IS  - 0028-0836 (Print)
IS  - 0028-0836 (Linking)
VI  - 363
IP  - 6429
DP  - 1993 Jun 10
TI  - Alteration in a new gene encoding a putative membrane-organizing protein causes 
      neuro-fibromatosis type 2.
PG  - 515-21
AB  - 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 proteins at the plasma membrane and cytoskeleton interface, a 
      previously unknown site of action of tumour suppressor genes in humans.
FAU - Rouleau, G A
AU  - Rouleau GA
AD  - Centre de recherche en Neuroscience, McGill University, Montreal, Quebec, Canada.
FAU - Merel, P
AU  - Merel P
FAU - Lutchman, M
AU  - Lutchman M
FAU - Sanson, M
AU  - Sanson M
FAU - Zucman, J
AU  - Zucman J
FAU - Marineau, C
AU  - Marineau C
FAU - Hoang-Xuan, K
AU  - Hoang-Xuan K
FAU - Demczuk, S
AU  - Demczuk S
FAU - Desmaze, C
AU  - Desmaze C
FAU - Plougastel, B
AU  - Plougastel B
AU  - et al.
LA  - eng
SI  - GENBANK/X72666
SI  - GENBANK/X72667
SI  - GENBANK/X72668
SI  - GENBANK/X72669
SI  - GENBANK/X72670
SI  - GENBANK/Z22664
SI  - GENBANK/x72665
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Nature
JT  - Nature
JID - 0410462
RN  - 0 (DNA, Neoplasm)
RN  - 0 (Membrane Proteins)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Neurofibromin 2)
SB  - IM
CIN - Nature. 1993 Jun 10;363(6429):495-6. PMID: 8505975
GS  - NF2
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Cell Line
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 22
MH  - Cloning, Molecular
MH  - DNA, Neoplasm
MH  - *Genes, Neurofibromatosis 2
MH  - Germ Cells
MH  - HeLa Cells
MH  - Humans
MH  - Hybrid Cells
MH  - Membrane Proteins/*genetics
MH  - Mice
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Neoplasm Proteins/*genetics
MH  - Neurofibromin 2
MH  - Point Mutation
MH  - Restriction Mapping
MH  - Sequence Homology, Amino Acid
MH  - Tumor Cells, Cultured
EDAT- 1993/06/10 00:00
MHDA- 1993/06/10 00:01
CRDT- 1993/06/10 00:00
PHST- 1993/06/10 00:00 [pubmed]
PHST- 1993/06/10 00:01 [medline]
PHST- 1993/06/10 00:00 [entrez]
AID - 10.1038/363515a0 [doi]
PST - ppublish
SO  - Nature. 1993 Jun 10;363(6429):515-21. doi: 10.1038/363515a0.