Literature DB >> 29481901

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

Jason D Dinella1, Jiangli Chen1, Saiphone Webb1, Elaine Siegfried2, Alanna F Bree3, Senthilnath Lakshmanachetty1, Velmurugan Balaiya1, Maranke I Koster4, Peter J Koch5.   

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Year:  2018        PMID： 29481901      PMCID： PMC6019602          DOI： 10.1016/j.jid.2018.02.016

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  15 in total

1.  Use of induced pluripotent stem cells in dermatological research.

Authors:  Jason Dinella; Maranke I Koster; Peter J Koch
Journal:  J Invest Dermatol       Date:  2014-08       Impact factor: 8.551

2.  Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

Authors:  J A McGrath; P H Duijf; V Doetsch; A D Irvine; R de Waal ; K R Vanmolkot; V Wessagowit; A Kelly; D J Atherton; W A Griffiths; S J Orlow; A van Haeringen; M G Ausems; A Yang; F McKeon; M A Bamshad; H G Brunner; B C Hamel; H van Bokhoven
Journal:  Hum Mol Genet       Date:  2001-02-01       Impact factor: 6.150

3.  Plakoglobin but not desmoplakin regulates keratinocyte cohesion via modulation of p38MAPK signaling.

Authors:  Volker Spindler; Carina Dehner; Stefan Hübner; Jens Waschke
Journal:  J Invest Dermatol       Date:  2014-01-17       Impact factor: 8.551

4.  Loss of desmocollin 3 in mice leads to epidermal blistering.

Authors:  Jiangli Chen; Zhining Den; Peter J Koch
Journal:  J Cell Sci       Date:  2008-08-05       Impact factor: 5.285

5.  Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63.

Authors:  Brian J Zarnegar; Dan E Webster; Vanessa Lopez-Pajares; Brook Vander Stoep Hunt; Kun Qu; Karen J Yan; David R Berk; George L Sen; Paul A Khavari
Journal:  Am J Hum Genet       Date:  2012-08-23       Impact factor: 11.025

6.  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

7.  Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris.

Authors:  P J Koch; M G Mahoney; H Ishikawa; L Pulkkinen; J Uitto; L Shultz; G F Murphy; D Whitaker-Menezes; J R Stanley
Journal:  J Cell Biol       Date:  1997-06-02       Impact factor: 10.539

Review 8.  The Human Phenotype Ontology in 2017.

Authors:  Sebastian Köhler; Nicole A Vasilevsky; Mark Engelstad; Erin Foster; Julie McMurry; Ségolène Aymé; Gareth Baynam; Susan M Bello; Cornelius F Boerkoel; Kym M Boycott; Michael Brudno; Orion J Buske; Patrick F Chinnery; Valentina Cipriani; Laureen E Connell; Hugh J S Dawkins; Laura E DeMare; Andrew D Devereau; Bert B A de Vries; Helen V Firth; Kathleen Freson; Daniel Greene; Ada Hamosh; Ingo Helbig; Courtney Hum; Johanna A Jähn; Roger James; Roland Krause; Stanley J F Laulederkind; Hanns Lochmüller; Gholson J Lyon; Soichi Ogishima; Annie Olry; Willem H Ouwehand; Nikolas Pontikos; Ana Rath; Franz Schaefer; Richard H Scott; Michael Segal; Panagiotis I Sergouniotis; Richard Sever; Cynthia L Smith; Volker Straub; Rachel Thompson; Catherine Turner; Ernest Turro; Marijcke W M Veltman; Tom Vulliamy; Jing Yu; Julie von Ziegenweidt; Andreas Zankl; Stephan Züchner; Tomasz Zemojtel; Julius O B Jacobsen; Tudor Groza; Damian Smedley; Christopher J Mungall; Melissa Haendel; Peter N Robinson
Journal:  Nucleic Acids Res       Date:  2016-11-28       Impact factor: 16.971

9.  Desmoglein 1-dependent suppression of EGFR signaling promotes epidermal differentiation and morphogenesis.

Authors:  Spiro Getsios; Cory L Simpson; Shin-ichiro Kojima; Robert Harmon; Linda J Sheu; Rachel L Dusek; Mona Cornwell; Kathleen J Green
Journal:  J Cell Biol       Date:  2009-06-22       Impact factor: 10.539

10.  p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.

Authors:  Giustina Ferone; Maria Rosaria Mollo; Helen A Thomason; Dario Antonini; Huiqing Zhou; Raffaele Ambrosio; Laura De Rosa; Domenico Salvatore; Spiro Getsios; Hans van Bokhoven; Jill Dixon; Caterina Missero
Journal:  Hum Mol Genet       Date:  2012-10-29       Impact factor: 6.150
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  1 in total

1.  Differentiation of Human Induced Pluripotent Stem Cells into Keratinocytes.

Authors:  Peter J Koch; Saiphone Webb; Jessica A Gugger; Maddison N Salois; Maranke I Koster
Journal:  Curr Protoc       Date:  2022-04
  1 in total

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