A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1

American Journal of Human Genetics

Volumn 70, Issue 4, 2002, Pages 943-954

  Hart, Thomas C ^a,b   Zhang, Yingze ^a   Gorry, Michael C ^a   Hart, P Suzanne ^b   Cooper, Margaret ^a   Marazita, Mary L ^a,b   Marks, Jared M ^a   Cortelli, Jose R ^c   Pallos, Debora ^c  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^c UNIVERSITY OF TAUBATÉ   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GENE PRODUCT; SOS PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 2P; CHROMOSOME 5Q; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE INSERTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC LINKAGE; GINGIVA FIBROMATOSIS; HUMAN; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON; TRANSGENIC MOUSE;

ANIMALIA; INSERTION SEQUENCES; MUS MUSCULUS;

EID: 0036201303     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/339689     Document Type: Article

References (41)

1. Recommendations for a nomenclature system for human gene mutations
2. Membrane targeting of the nucleotide exchange factor Sos is sufficient for activating the Ras signaling pathway
3. Comprehensive human genetic maps: Individual and sex-specific variation in recombination
4. Molecular dynamics analysis of the structures of rasguanine nucleotide exchange protein (SOS) bound to wild-type and oncogenic ras-p21: Identification of effector domains of SOS
5. Report of the committee on methods of linkage analysis and reporting
6. Regulation of SOS activity by intramolecular interactions
7. Identification of the mitogen-activated protein kinase phosphorylation sites on human Sos1 that regulate interaction with Grb2
8. Faster sequential genetic linkage computations
9. A general model for the genetic analysis of pedigree data
10. Gingival fibromatosis and partial duplication of the short arm of chromosome 2 (dup(2)(p13→p21))
11. Patterns of phenotypic expression of human junctional, gingival and reduced enamel epithelia in vivo and in vitro
12. Genetic linkage of hereditary gingival fibromatosis to chromosome 2p21
13. Evidence of genetic heterogeneity for hereditary gingival fibromatosis
14. Drug-induced gingival overgrowth: Old problem, new problem
15. Sos1 rapidly associates with Grb2 and is hypophosphorylated when complexed with the EGF receptor after EGF stimulation
16. Variation in the inheritance and expression of gingival fibromatosis
17. Direct interaction of SOS1 Ras exchange protein with the SH3 domain of phospholipase C-gamma1
18. Easy calculations of lod scores and genetic risks on small computers
19. Guanine-nucleotide-releasing factor hSos1 binds to Grb2 and links receptor tyrosine kinases to Ras signalling
20. A new form of hypertrichosis inherited as an X-linked dominant trait
21. Functional roles for the pleckstrin and Dbl homology regions in the Ras exchange factor Son-of sevenless
22. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance
23. Son of sevenless binds to the SH3 domain of src-type tyrosine kinase
24. Hereditary fibrous hyperplasia of the gingiva with varying penetrance and expressivity
25. Opposite imbalances of distal 14q in two unrelated patients
26. A 15 amino acid stretch close to the Grb2-binding domain defines two differentially expressed hSos1 isoforms with markedly different Grb2 binding affinity and biological activity
27. Position paper of The American Academy of Periodontology: Periodontal disease as a potential risk factor for systemic diseases
28. The pathogenesis of drug-induced gingival overgrowth
29. Genetic heterogeneity of gingival fibromatosis on chromosome 2p
30. The EGF receptor provides an essential survival signal for SOS-dependent skin tumor development
31. Gingival recession: Reappraisal of an enigmatic condition and a new index for monitoring
32. Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics
33. Crystal structure of the Dbl and pleckstrin homology domains from the human Son of sevenless protein
34. The Ras/Rac guanine nucleotide exchange factor mammalian Son-of-sevenless interacts with PACSIN 1/syndapin I, a regulator of endocytosis and the actin cytoskeleton
35. Heterogeneity in gingival fibromatosis
36. A new locus for hereditary gingival fibromatosis (GINGF2) maps to 5q13-q22
37. Refinement of the locus for autosomal dominant hereditary gingival fibromatosis (GINGF) to a 3.8-cM region on 2p21
38. Localization, genomic organization, and alternative transcription of a novel human SAM-dependent methyltransferase gene on chromosome 2p21-p22
39. Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients