Mutations in the p53 homolog p63: Allele-specific developmental syndromes in humans

Trends in Molecular Medicine

Volumn 8, Issue 3, 2002, Pages 133-139

  Van Bokhoven, Hans ^a   McKeon, Frank ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53; PROTEIN P63;

CELL INTERACTION; CHROMOSOME 3Q; DEVELOPMENTAL DISORDER; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; HUMAN; NONHUMAN; PATHOGENESIS; PHENOTYPE; REVIEW; SIGNAL TRANSDUCTION; STEM CELL;

ABNORMALITIES, MULTIPLE; ALLELES; CHROMOSOMES, HUMAN, PAIR 3; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, TUMOR SUPPRESSOR; HUMANS; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; PHOSPHOPROTEINS; SIGNAL TRANSDUCTION; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 0036096302     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1471-4914(01)02260-2     Document Type: Review

References (49)

1. Surfing the p53 network
2. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
3. Germ-line transmission of a mutated p53 gene in a cancerprone family with Li-Fraumeni syndrome
4. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours
5. Monoallelically expressed gene related to p53 at 1p36, a region frequently deleted in neuroblastoma and other human cancers
6. p73 is a simian [correction of human] p53-related protein that can induce apoptosis
7. p63, a p53 homolog at 3q27-29 encodes multiple products with transactivating, death-inducing, and dominant-negative activities
8. A novel protein with strong homology to the tumor suppressor p53
9. Cloning and functional analysis of human p51, which structurally and functionally resembles p53
10. A second p53-related protein, p73L, with high homology to p73
11. A new human p53 homologue
12. Deletion of the COOH-terminal region of p73alpha enhances both its transactivation function and DNA-binding activity but inhibits induction of apoptosis in mammalian cells
13. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
14. p63 is a p53 homologue required for limb and epidermal morphogenesis
15. Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27
16. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
17. p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
18. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27
19. Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome
20. p53 mutations in human cancers
21. Preferential formation of benzo[a]pyrene adducts at lung cancer mutational hotspots in P53
22. Slow repair of pyrimidine dimers at p53 mutation hotspots in skin cancer
23. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
24. The genetics of cleft lip and cleft palate
25. Palate development
26. Face facts: Genes, environment, and clefts
27. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: An autosomal dominant condition
28. The Van der Woude syndrome (dominantly inherited lip pits and clefts)
29. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
30. ADULT syndrome: An autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia
31. ADULT syndrome allelic to limb mammary syndrome (LMS)?
32. p63 mutations in the EEC Hay-Wells, ADULT syndromes and in split hand/foot malformation reveal a genotype-phenotype correlation
33. TP63 gene mutation in ADULT syndrome
34. Mapping of the gene for X-chromosomal split-hand/splitfoot anomaly to Xq26-q26.1
35. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
36. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development
37. A second autosomal split hand/split foot locus maps to chromosome 10q24-q25
38. Anovel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant
39. Serrate2 is disrupted in the mouse limb-development mutant syndactylism
40. p63 identifies keratinocyte stem cells
41. Vertebrate limb development
42. Stem cell fate and patterning in mammalian epidermis
43. Signalling networks regulating dental development
44. Genetics of craniofacial development and malformation
45. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
46. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
47. Mutations in GJB6 cause hidrotic ectodermal dysplasia
48. AIS is an oncogene amplified in squamous cell carcinoma