p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

American Journal of Human Genetics

Volumn 69, Issue 3, 2001, Pages 481-492

  Van Bokhoven, Hans ^a   Hamel, Ben C J ^a   Bamshad, Mike ^b   Sangiorgi, Eugenio ^c   Gurrieri, Fiorella ^c   Duijf, Pascal H G ^a   Vanmolkot, Kaate R J ^a   Van Beusekom, Ellen ^a   Van Beersum, Sylvia E C ^a   Celli, Jacopo ^a   Merkx, Gerard F M ^a   Tenconi, Romano ^d   Fryns, Jean Pierre ^e   Verloes, Alain ^f   Newbury Ecob, Ruth A ^g   Raas Rotschild, Annick ^h   Majewski, Frank ⁱ   Beemer, Frits A ^j   Janecke, Andreas ^k   Chitayat, David ^l   Crisponi, Giangiorgio ^m   Kayserili, Hülya ⁿ   Yates, John R W ^o   Neri, Giovanni ^c   Brunner, Han G ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c CATHOLIC UNIVERSITY   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f UNIVERSITY OF LIÈGE   (Belgium)

^g BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^h HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

ⁱ HEINRICH HEINE UNIVERSITY   (Germany)

^j UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^k UNIVERSITY OF INNSBRUCK   (Austria)

^l UNIVERSITY OF TORONTO   (Canada)

^m UNIVERSITY OF CAGLIARI   (Italy)

ⁿ ISTANBUL UNIVERSITY   (Turkey)

^o UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN P63;

ARTICLE; BREAST MALFORMATION; CLEFT LIP PALATE; CLINICAL ARTICLE; ECTODERMAL DYSPLASIA; ECTRODACTYLY; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; GENE MUTATION; GENOTYPE; HAND MALFORMATION; HUMAN; LIMB MALFORMATION; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0034892604     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/323123     Document Type: Article

References (46)

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2. A specific mismatch repair event protects mammalian cells from loss of 5-methylcytosine
3. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
4. Terminal deletion of the long arm of chromosome 3 [46, XX, del(3)(q27→qter)]
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18. The lacrimo-auriculo-dento-digital syndrome
19. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27
20. Activation of FGF receptors by mutations in the transmembrane domain
21. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
22. p63 is a p53 homologue required for limb and epidermal morphogenesis
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44. p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities
45. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development