scholarly journals EEC syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Eec Syndrome

scholarly journals Mutant p63 affects epidermal cell identity through rewiring the enhancer landscape

2018 ◽  
Author(s):  
Jieqiong Qu ◽  
Sabine Tanis ◽  
Jos P.H. Smits ◽  
Evelyn N. Kouwenhoven ◽  
Martin Oti ◽  
...  
Keyword(s):  
Gene Expression ◽  
Dna Binding ◽  
Epidermal Cell ◽  
Developmental Disorders ◽  
Molecular Mechanisms ◽  
Epidermal Keratinocytes ◽  
Cell Identity ◽  
Keratinocyte Proliferation ◽  
Eec Syndrome ◽  
Proliferation And Differentiation

AbstractTranscription factor p63 is a key regulator of epidermal keratinocyte proliferation and differentiation. In humans mutations in p63 cause several developmental disorders with defects of ectoderm-derived structures including the epidermis. The underlying molecular mechanisms of these mutations however remain unclear. Here we characterized the transcriptome and epigenome from EEC syndrome patients carrying mutations in the p63 DNA-binding domain. The transcriptome of p63 mutant keratinocytes deviated from the normal epidermal cell identity. Epigenomic analyses showed that the deregulated gene expression in p63 mutant keratinocytes resulted from an altered enhancer landscape contributed by loss of p63-bound active enhancers and by unexpected gain of enhancers. The gained enhancers in mutant keratinocytes were frequently bound by deregulated transcription factors such as RUNX1. Reversing RUNX1 overexpression partially rescued deregulated gene expression as well as the enhancer distribution. Our findings support the pivotal role of p63 in controlling the enhancer landscape of epidermal keratinocytes and identify a novel mechanism whereby p63 DNA-binding mutations associated with EEC syndrome rewire the enhancer landscape and affect epidermal cell identity.

scholarly journals EEC syndrome without ectrodactyly: report of two new families.

1990 ◽  
Vol 27 (3) ◽  
pp. 165-168 ◽  
Author(s):  
J P Fryns ◽  
E Legius ◽  
A M Dereymaeker ◽  
H Van den Berghe
Keyword(s):  
Eec Syndrome

Urinary tract involvement in EEC syndrome: A clinical study in 25 Brazilian patients

1992 ◽  
Vol 44 (6) ◽  
pp. 803-806 ◽  
Author(s):  
Aguinaldo C. Nardi ◽  
Ubirajara Ferreira ◽  
Nelson Rodrigues Netto ◽  
Luis Alberto Magna ◽  
E. S. O. Rodini ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Clinical Study ◽  
Eec Syndrome ◽  
Tract Involvement

scholarly journals Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

2015 ◽  
Vol 3 ◽  
Author(s):  
Deepak Sharma ◽  
Chetan Kumar ◽  
Sanjay Bhalerao ◽  
Aakash Pandita ◽  
Sweta Shastri ◽  
...  
Keyword(s):  
Tetralogy Of Fallot ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ectodermal Dysplasia ◽  
Rare Combination ◽  
Eec Syndrome

The EEC Syndrome

1974 ◽  
Vol 127 (6) ◽  
pp. 840
Author(s):  
Constance Pries
Keyword(s):  
Eec Syndrome

EEC syndrome-like phenotype in a patient with an IRF6 mutation

2012 ◽  
Vol 158A (5) ◽  
pp. 1219-1220 ◽  
Author(s):  
Rika Kosaki ◽  
Tsuyoshi Kaneko ◽  
Chiharu Torii ◽  
Kenjiro Kosaki
Keyword(s):  
Eec Syndrome
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