Literature DB >> 15200513

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.

D R Bertola, C A Kim, L M J Albano, H Scheffer, R Meijer, H van Bokhoven.   

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Year:  2004        PMID： 15200513     DOI： 10.1111/j.0009-9163.2004.00278.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  10 in total

1.  Discovery of protein interaction networks shared by diseases.

Authors:  Lee Sam; Yang Liu; Jianrong Li; Carol Friedman; Yves A Lussier
Journal:  Pac Symp Biocomput       Date:  2007

Review 2.  Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.

Authors:  Maranke I Koster; Jason Dinella; Jiangli Chen; Charlene O'Shea; Peter J Koch
Journal:  Cell Commun Adhes       Date:  2014-02

3.  A Human Stem Cell-Based System to Study the Role of TP63 Mutations in Ectodermal Dysplasias.

Authors:  Jason D Dinella; Jiangli Chen; Saiphone Webb; Elaine Siegfried; Alanna F Bree; Senthilnath Lakshmanachetty; Velmurugan Balaiya; Maranke I Koster; Peter J Koch
Journal:  J Invest Dermatol       Date:  2018-02-23       Impact factor: 8.551

4.  DeltaNp63 knockdown mice: A mouse model for AEC syndrome.

Authors:  Maranke I Koster; Barbara Marinari; Aimee S Payne; Piranit N Kantaputra; Antonio Costanzo; Dennis R Roop
Journal:  Am J Med Genet A       Date:  2009-09       Impact factor: 2.802

Review 5.  Modeling AEC-New approaches to study rare genetic disorders.

Authors:  Peter J Koch; Jason Dinella; Mary Fete; Elaine C Siegfried; Maranke I Koster
Journal:  Am J Med Genet A       Date:  2014-03-24       Impact factor: 2.802

6.  Differentially Expressed Genes in EEC and LMS Syndromes.

Authors:  Wei Yin; Yaling Song; Yangge Du; Zhuan Bian
Journal:  PLoS One       Date:  2015-06-15       Impact factor: 3.240

7.  p63 threonine phosphorylation signals the interaction with the WW domain of the E3 ligase Itch.

Authors:  Sonia Melino; Alessia Bellomaria; Ridvan Nepravishta; Maurizio Paci; Gerry Melino
Journal:  Cell Cycle       Date:  2014       Impact factor: 4.534

8.  Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome.

Authors:  Cornelia van Straten; Kurt-W Butow
Journal:  Ann Maxillofac Surg       Date:  2013-01

9.  Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome.

Authors:  Claudia Russo; Christian Osterburg; Anna Sirico; Dario Antonini; Raffaele Ambrosio; Julia Maren Würz; Jörg Rinnenthal; Marco Ferniani; Sebastian Kehrloesser; Birgit Schäfer; Peter Güntert; Satrajit Sinha; Volker Dötsch; Caterina Missero
Journal:  Proc Natl Acad Sci U S A       Date:  2018-01-16       Impact factor: 11.205

10.  EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.

Authors:  Yuki Otsuki; Koichi Ueda; Takashi Nuri; Chisei Satoh; Ryuta Maekawa; Koh-Ichiro Yoshiura
Journal:  Medicine (Baltimore)       Date:  2020-10-30       Impact factor: 1.817
  10 in total

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