Frequency and distribution of NF2 mutations in schwannomas.

PubWeight™: 1.34‹?› | Rank: Top 10%

🔗 View Article (PMID 8889506)

Published in Genes Chromosomes Cancer on September 01, 1996

Authors

L B Jacoby1, M MacCollin, R Barone, V Ramesh, J F Gusella

Author Affiliations

1: Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA.

Articles citing this

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet (2003) 2.12

Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet (1997) 1.96

Intrinsic differences between authentic and cryptic 5' splice sites. Nucleic Acids Res (2003) 1.66

Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol (2008) 1.59

Structural analysis of Drosophila merlin reveals functional domains important for growth control and subcellular localization. J Cell Biol (1998) 1.58

Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 protein. Genes Dev (1999) 1.37

Merlin: a tumour suppressor with functions at the cell cortex and in the nucleus. EMBO Rep (2012) 1.30

Universal absence of merlin, but not other ERM family members, in schwannomas. Am J Pathol (1997) 1.02

Malignant transformation of acoustic neuroma/vestibular schwannoma 10 years after gamma knife stereotactic radiosurgery. Skull Base (2010) 0.94

Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth. Neurobiol Dis (2007) 0.94

Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus. BMC Genomics (2007) 0.93

Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation. J Med Genet (2003) 0.92

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. Oncotarget (2014) 0.89

High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas. Hum Genet (2005) 0.88

A neuronal function of the tumor suppressor protein merlin. Acta Neuropathol Commun (2014) 0.83

Detection of spontaneous schwannomas by MRI in a transgenic murine model of neurofibromatosis type 2. Neoplasia (2002) 0.82

Distinct overlapping sequences at the carboxy-terminus of merlin regulate its tumour suppressor and morphogenic activity. J Cell Mol Med (2012) 0.80

Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions. Genes Chromosomes Cancer (2011) 0.79

Strong conservation of the human NF2 locus based on sequence comparison in five species. Mamm Genome (2003) 0.77

Oncogenic role of Merlin/NF2 in glioblastoma. Oncogene (2014) 0.77

A splicing variant of Merlin promotes metastasis in hepatocellular carcinoma. Nat Commun (2015) 0.76

Mutations affecting BRAF, EGFR, PIK3CA, and KRAS are not associated with sporadic vestibular schwannomas. Virchows Arch (2012) 0.76

Frequency of loss of heterozygosity of the NF2 gene in schwannomas from Croatian patients. Croat Med J (2012) 0.75

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Hum Genet (2016) 0.75

Preoperative management of giant retroperitoneal schwannoma: A case report and review of the literature. Oncol Lett (2016) 0.75

Articles by these authors

A polymorphic DNA marker genetically linked to Huntington's disease. Nature (1984) 16.71

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology (1993) 14.54

Construction of a GT polymorphism map of human 9q. Genomics (1992) 8.92

Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro (1984) 7.23

Random-clone strategy for genomic restriction mapping in yeast. Proc Natl Acad Sci U S A (1986) 6.44

Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci U S A (1980) 5.76

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet (1993) 5.70

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet (1997) 5.39

Shape, size, and distribution of Ca(2+) release units and couplons in skeletal and cardiac muscles. Biophys J (1999) 5.37

Rapid induction of Alzheimer A beta amyloid formation by zinc. Science (1994) 5.34

Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature (1988) 4.83

Cytoreductive surgery combined with perioperative intraperitoneal chemotherapy for the management of peritoneal carcinomatosis from colorectal cancer: a multi-institutional study. J Clin Oncol (2004) 4.15

CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol (1997) 4.01

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 3.87

Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med (1988) 3.82

A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res (1998) 3.77

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet (1997) 3.64

A prospective study of prevalence and association of peripheral neuropathy in Indian patients with newly diagnosed type 2 diabetes mellitus. J Postgrad Med (2014) 3.53

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature (1986) 3.40

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet (2001) 3.39

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet (2001) 3.27

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci (1998) 3.24

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12

DNA markers for nervous system diseases. Science (1984) 3.02

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98

Inactivation of the mouse Huntington's disease gene homolog Hdh. Science (1995) 2.96

Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res (1987) 2.83

Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet (1998) 2.81

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature (1990) 2.80

Huntington's disease. Pathogenesis and management. N Engl J Med (1986) 2.77

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet (2000) 2.67

Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev (1998) 2.66

Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32

Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science (1997) 2.30

Regulation of Ca2+ signaling in transgenic mouse cardiac myocytes overexpressing calsequestrin. J Clin Invest (1998) 2.29

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet (1991) 2.23

Development of a species-specific PCR assay for detection of Leishmania donovani in clinical samples from patients with kala-azar and post-kala-azar dermal leishmaniasis. J Clin Microbiol (2001) 2.23

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet (1999) 2.20

Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology (2006) 2.19

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature (1985) 2.19

Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum Genet (1986) 2.18

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology (2008) 2.16

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet A (2003) 2.15

Cytoreductive surgery and hyperthermic intraperitoneal chemotherapy in the management of peritoneal surface malignancies of colonic origin: a consensus statement. Society of Surgical Oncology. Ann Surg Oncol (2006) 2.13

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet (2003) 2.12

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science (1987) 2.06

Cutaneous signs. Skinmed (2003) 2.04

Anaphylaxis secondary to levobupivacaine. Anaesthesia (2011) 2.02

Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet (1997) 1.96

Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. Proc Natl Acad Sci U S A (1995) 1.94

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum Mol Genet (2000) 1.90

Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations. Proc Natl Acad Sci U S A (1984) 1.88

Transport of Ca2+ from sarcoplasmic reticulum to mitochondria in rat ventricular myocytes. J Bioenerg Biomembr (2000) 1.87

Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet (2007) 1.86

Reversible immunocontraception in male monkeys immunized with eppin. Science (2004) 1.84

An improved approach to prepare human brains for research. J Neuropathol Exp Neurol (1995) 1.84

Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet (1991) 1.84

Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences. Proc Natl Acad Sci U S A (1982) 1.83

Genetic linkage map of human chromosome 21. Genomics (1988) 1.79

Induction of erythroid differentiation in vitro by purines and purine analogues. Cell (1976) 1.76

NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins. J Biol Chem (1998) 1.75

Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins. Somat Cell Mol Genet (1998) 1.72

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet (1996) 1.70

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet (1991) 1.67

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet (1995) 1.67

The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. Genes Dev (1997) 1.67

The organization of a nuclear DNA sequence from a higher plant: molecular cloning and characterization of soybean ribosomal DNA. Gene (1979) 1.67

Isolation of polymorphic DNA segments from human chromosome 21. Nucleic Acids Res (1985) 1.66

Molecular genetic approach to human meningioma: loss of genes on chromosome 22. Proc Natl Acad Sci U S A (1987) 1.63

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat Genet (1994) 1.63

Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet (1994) 1.62

Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology (1999) 1.60

A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers. Cancer Res (2000) 1.58

Prevalence & risk factors of pre-hypertension & hypertension in an affluent north Indian population. Indian J Med Res (2008) 1.58

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat (1999) 1.57

The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. Nature (1987) 1.57

DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11. DNA (1987) 1.56

The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet (1994) 1.55

The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD. Am J Hum Genet (1993) 1.55

Comparative ultrastructure of Ca2+ release units in skeletal and cardiac muscle. Ann N Y Acad Sci (1998) 1.54

Quantification of parasite load in clinical samples of leishmaniasis patients: IL-10 level correlates with parasite load in visceral leishmaniasis. PLoS One (2010) 1.54

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet (1985) 1.52

Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet (1996) 1.52

Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor. Proc Natl Acad Sci U S A (1992) 1.52

Tissue grafts in vitiligo surgery - past, present, and future. Indian J Dermatol (2009) 1.51

Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease. Science (1988) 1.51

Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase. DNA (1986) 1.50

Neurofibromatosis type 1 gene mutations in neuroblastoma. Nat Genet (1993) 1.48

NHE-RF, a merlin-interacting protein, is primarily expressed in luminal epithelia, proliferative endometrium, and estrogen receptor-positive breast carcinomas. Am J Pathol (2001) 1.47

Association of mammalian trp4 and phospholipase C isozymes with a PDZ domain-containing protein, NHERF. J Biol Chem (2000) 1.46

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet (1992) 1.46