Literature DB >> 12037717

Splitting p63.

Hans van Bokhoven1, Han G Brunner.   

Abstract

Causative TP63 mutations have been identified in five distinct human developmental disorders that are characterized by various degrees of limb abnormalities, ectodermal dysplasia, and facial clefts. The distribution of mutations over the various p63 protein domains and the structural and functional implications of these mutations establish a clear genotype-phenotype correlation.

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Year:  2002        PMID: 12037717      PMCID: PMC384966          DOI: 10.1086/341450

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  66 in total

1.  Solution structure of a conserved C-terminal domain of p73 with structural homology to the SAM domain.

Authors:  S W Chi; A Ayed; C H Arrowsmith
Journal:  EMBO J       Date:  1999-08-16       Impact factor: 11.598

2.  p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development.

Authors:  A Yang; R Schweitzer; D Sun; M Kaghad; N Walker; R T Bronson; C Tabin; A Sharpe; D Caput; C Crum; F McKeon
Journal:  Nature       Date:  1999-04-22       Impact factor: 49.962

3.  Surfing the p53 network.

Authors:  B Vogelstein; D Lane; A J Levine
Journal:  Nature       Date:  2000-11-16       Impact factor: 49.962

4.  p63 is a p53 homologue required for limb and epidermal morphogenesis.

Authors:  A A Mills; B Zheng; X J Wang; H Vogel; D R Roop; A Bradley
Journal:  Nature       Date:  1999-04-22       Impact factor: 49.962

5.  p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities.

Authors:  A Yang; M Kaghad; Y Wang; E Gillett; M D Fleming; V Dötsch; N C Andrews; D Caput; F McKeon
Journal:  Mol Cell       Date:  1998-09       Impact factor: 17.970

6.  Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Authors:  H van Bokhoven; M Jung; A P Smits; S van Beersum; F Rüschendorf; M van Steensel; M Veenstra; J H Tuerlings; E C Mariman; H G Brunner; T F Wienker; A Reis; H H Ropers; B C Hamel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

7.  The transcriptional activities of p53 and its homologue p51/p63: similarities and differences.

Authors:  A Shimada; S Kato; K Enjo; M Osada; Y Ikawa; K Kohno; M Obinata; R Kanamaru; S Ikawa; C Ishioka
Journal:  Cancer Res       Date:  1999-06-15       Impact factor: 12.701

8.  Differential regulation of cellular target genes by p53 devoid of the PXXP motifs with impaired apoptotic activity.

Authors:  J Zhu; J Jiang; W Zhou; K Zhu; X Chen
Journal:  Oncogene       Date:  1999-03-25       Impact factor: 9.867

9.  A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant.

Authors:  A Sidow; M S Bulotsky; A W Kerrebrock; B W Birren; D Altshuler; R Jaenisch; K R Johnson; E S Lander
Journal:  Nat Genet       Date:  1999-09       Impact factor: 38.330

10.  Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.

Authors:  S W Scherer; P Poorkaj; H Massa; S Soder; T Allen; M Nunes; D Geshuri; E Wong; E Belloni; S Little
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150

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  49 in total

Review 1.  p63 and p73, the ancestors of p53.

Authors:  V Dötsch; F Bernassola; D Coutandin; E Candi; G Melino
Journal:  Cold Spring Harb Perspect Biol       Date:  2010-05-19       Impact factor: 10.005

Review 2.  Dlx genes, p63, and ectodermal dysplasias.

Authors:  Maria I Morasso; Nadezda Radoja
Journal:  Birth Defects Res C Embryo Today       Date:  2005-09

Review 3.  Orofacial clefting: recent insights into a complex trait.

Authors:  Astanand Jugessur; Jeffrey C Murray
Journal:  Curr Opin Genet Dev       Date:  2005-06       Impact factor: 5.578

4.  Differential recognition of response elements determines target gene specificity for p53 and p63.

Authors:  Motonobu Osada; Hannah Lui Park; Yuichi Nagakawa; Keishi Yamashita; Alexey Fomenkov; Myoung Sook Kim; Guojun Wu; Shuji Nomoto; Barry Trink; David Sidransky
Journal:  Mol Cell Biol       Date:  2005-07       Impact factor: 4.272

Review 5.  Edgotype: a fundamental link between genotype and phenotype.

Authors:  Nidhi Sahni; Song Yi; Quan Zhong; Noor Jailkhani; Benoit Charloteaux; Michael E Cusick; Marc Vidal
Journal:  Curr Opin Genet Dev       Date:  2013-11-26       Impact factor: 5.578

6.  Role of p63 and the Notch pathway in cochlea development and sensorineural deafness.

Authors:  Alessandro Terrinoni; Valeria Serra; Ernesto Bruno; Andreas Strasser; Elizabeth Valente; Elsa R Flores; Hans van Bokhoven; Xin Lu; Richard A Knight; Gerry Melino
Journal:  Proc Natl Acad Sci U S A       Date:  2013-04-15       Impact factor: 11.205

7.  Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.

Authors:  Philip F Giampietro; Mei W Baker; Monica J Basehore; Julie R Jones; Christine M Seroogy
Journal:  Am J Med Genet A       Date:  2013-04-23       Impact factor: 2.802

8.  Involvement of p63 in the herpes simplex virus-1-induced demise of corneal cells.

Authors:  László Orosz; Eva Gallyas; Lajos Kemény; Yvette Mándi; Andrea Facskó; Klára Megyeri
Journal:  J Biomed Sci       Date:  2010-06-07       Impact factor: 8.410

9.  Current concepts in genetics of nonsyndromic clefts.

Authors:  Jyotsna Murthy; Lvks Bhaskar
Journal:  Indian J Plast Surg       Date:  2009 Jan-Jun

10.  Edgetic perturbation models of human inherited disorders.

Authors:  Quan Zhong; Nicolas Simonis; Qian-Ru Li; Benoit Charloteaux; Fabien Heuze; Niels Klitgord; Stanley Tam; Haiyuan Yu; Kavitha Venkatesan; Danny Mou; Venus Swearingen; Muhammed A Yildirim; Han Yan; Amélie Dricot; David Szeto; Chenwei Lin; Tong Hao; Changyu Fan; Stuart Milstein; Denis Dupuy; Robert Brasseur; David E Hill; Michael E Cusick; Marc Vidal
Journal:  Mol Syst Biol       Date:  2009-11-03       Impact factor: 11.429

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