Splitting p63

American Journal of Human Genetics

Volumn 71, Issue 1, 2002, Pages 1-13

  Van Bokhoven, Hans ^a   Brunner, Han G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53; PROTEIN P63; PROTEIN P73;

ACRO DERMATO UNGUAL LACRIMAL TOOTH SYNDROME; ANKYLOBLEPHARON ECTODERMAL DYSPLASIA CLEFTING SYNDROME; CLEFT PALATE; CLINICAL FEATURE; CORRELATION ANALYSIS; ECTODERMAL DYSPLASIA; ECTRODACTYLY; ELECTRODACTYLY ECTODERMAL DYSPLASIA CLEFTING SYNDROME; EMBRYO DEVELOPMENT; GENE EXPRESSION REGULATION; GENOTYPE; HUMAN; LIMB MAMMARY SYNDROME; MALFORMATION SYNDROME; NONHUMAN; NONSYNDROMIC SPLIT HAND SPLIT FOOT MALFORMATION SYNDROME; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FAMILY; REVIEW;

EID: 0036305571     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/341450     Document Type: Review

References (66)

1. TP63 gene mutation in ADULT syndrome
2. Zebrafish ΔNp63 is a direct target of Bmp signaling and encodes a transcriptional repressor blocking neural specification in the ventral ectoderm
3. Retinoic acid inhibits downregulation of ΔNp63α expression during terminal differentiation of human primary keratinocytes
4. Identification and tissue distribution of novel KET/p63 splice variants
5. Getting a LEAD on EEC
6. Analysis of the p63 gene in classic EEC syndrome, related syndromes, and nonsyndromic orofacial clefts
7. Predicting functions from protein sequences - Where are the bottlenecks?
8. The human MDM2 oncoprotein increases the transcriptional activity and the protein level of the p53 homolog p63
9. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
10. Solution structure of a conserved C-terminal domain of p73 with structural homology to the SAM domain
11. Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27→qter)]
12. p63 and p73 transactivate differentiation gene promoters in human keratinocytes
13. p63α and ΔNp63α can induce cell cycle arrest and apoptosis and differentially regulate p53 target genes
14. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63
15. Palate development
16. p63 and p73 are required for p53-dependent apoptosis in response to DNA damage
17. The genetics of cleft lip and cleft palate
18. Mutational analysis of the p63/p73L/p51/p40/CUSP/KET gene in human cancer cell lines using intronic primers
19. Mdm2 promotes the rapid degradation of p53
20. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: An autosomal dominant condition
21. The lacrimo-auriculo-dento-digital syndrome
22. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27
23. Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice
24. p73 is a human p53-related protein that can induce apoptosis
25. Regulation of p63 function by Mdm2 and MdmX
26. Monoallelically expressed gene related to p53 at 1p36, a region frequently deleted in neuroblastoma and other human cancers
27. A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome
28. Regulation of p53 stability by Mdm2
29. p53, the cellular gatekeeper for growth and division
30. Down-regulation of p63 is required for epidermal UV-B-induced apoptosis
31. Hdmx and Mdm2 can repress transcription activation by p53 but not by p63
32. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
33. p63 is a p53 homologue required for limb and epidermal morphogenesis
34. p53 homologue p63 represses epidermal growth factor receptor expression
35. The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly
36. Cloning and functional analysis of human p51, which structurally and functionally resembles p53
37. Deletion of the COOH-terminal region of p73α enhances both its transactivation function and DNA-binding activity but inhibits induction of apoptosis in mammalian cells
38. Temperature-sensitive mutants of p53 homologs
39. ADULT syndrome allelic to limb mammary syndrome (LMS)?
40. ADULT-syndrome: An autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia
41. Anhidrotic ectodermal dysplasia: Autosomal dominant inheritance with palate and lip anomalies
42. EEC syndrome: Report on 20 new patients, clinical and genetic considerations
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44. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate
45. The p53 family member genes are involved in the Notch signal pathway
46. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
47. The Van der Woude syndrome (dominantly inherited lip pits and clefts)
48. A novel protein with strong homology to the tumor suppressor p53
49. SAM as a protein interaction domain involved in developmental regulation
50. A second p53-related protein, p73L, with high homology to p73
51. The transcriptional activities of p53 and its homologue p51/p63: Similarities and differences
52. A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant
53. Serrate2 is disrupted in the mouse limb-development mutant syndactylism
54. Physical interaction with Yes-associated protein enhances p73 transcriptional activity
55. A new human p53 homologue
56. p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
57. Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27
58. Surfing the p53 network
59. Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred
60. Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome
61. On the shoulders of giants: p63, p73 and the rise of p53
62. p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities
63. P63 and P73: P53 mimics, menaces and more
64. p63 is essential for regenerative proliferation in limb, cranio-facial and epithelial development
65. p73-deficient mice have neurological, pheromonal and inflammatory defects but lack spontaneous tumours
66. Differential regulation of cellular target genes by p53 devoid of the PXXP motifs with impaired apoptotic activity