1 |
A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias.
61
54
|
Moretti F...Costanzo A
|
20424325 |
2010 |
2 |
Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems.
54
61
|
Khabour OF...Owais AI
|
20486090 |
2010 |
3 |
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.
61
54
|
Terrinoni A...Melino G
|
20230788 |
2010 |
4 |
Growth hormone and insulin-like growth factor I insensitivity of fibroblasts isolated from a patient with an I{kappa}B{alpha} mutation.
54
61
|
Wu S...De Luca F
|
20080849 |
2010 |
5 |
X-linked ectodermal dysplasia receptor is downregulated in breast cancer via promoter methylation.
61
54
|
Punj V...Chaudhary PM
|
20145163 |
2010 |
6 |
A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha.
61
54
|
Siggs OM...Beutler B
|
20133626 |
2010 |
7 |
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
61
54
|
Clements SE...McGrath JA
|
19903181 |
2010 |
8 |
A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma.
54
61
|
Balci S...Kandemir B
|
19716498 |
2009 |
9 |
DeltaNp63 knockdown mice: A mouse model for AEC syndrome.
54
61
|
Koster MI...Roop DR
|
19681108 |
2009 |
10 |
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).
54
61
|
Rinne T...van Bokhoven H
|
19676060 |
2009 |
11 |
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.
61
54
|
Julapalli MR...Bree AF
|
19681128 |
2009 |
12 |
From ectodermal dysplasia to selective tooth agenesis.
54
61
|
Mues GI...D'Souza R
|
19504606 |
2009 |
13 |
[A case of disseminated BCG infection found during treatment of an infant with Crohn's disease].
54
61
|
Enkai S...Seki M
|
19764466 |
2009 |
14 |
XEDAR as a putative colorectal tumor suppressor that mediates p53-regulated anoikis pathway.
61
54
|
Tanikawa C...Matsuda K
|
19543321 |
2009 |
15 |
Letter regarding the article: "R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy" by Valenzise et al.
54
61
|
van der Zwaag PA...van Tintelen JP
|
19450441 |
2009 |
16 |
Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency.
54
61
|
Fish JD...Bunin N
|
18794870 |
2009 |
17 |
Consequences of X-linked hypohidrotic ectodermal dysplasia for the human jaw bone.
61
54
|
Lesot H...Schmittbuhl M
|
19828977 |
2009 |
18 |
IKKalpha is a p63 transcriptional target involved in the pathogenesis of ectodermal dysplasias.
61
54
|
Marinari B...Costanzo A
|
18633439 |
2009 |
19 |
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.
54
61
|
Megarbane H...Smahi A
|
18816645 |
2008 |
20 |
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.
61
54
|
Valenzise M...Silengo M
|
18603493 |
2008 |
21 |
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.
61
54
|
Lexner MO...Hertz JM
|
18510547 |
2008 |
22 |
Claudin-1 is a p63 target gene with a crucial role in epithelial development.
61
54
|
Lopardo T...Guerrini L
|
18648642 |
2008 |
23 |
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
54
61
|
Fusco F...Ursini MV
|
18350553 |
2008 |
24 |
X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis.
54
61
|
Mancini AJ...Uzel G
|
18347290 |
2008 |
25 |
Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.
54
61
|
Casal ML...Schneider P
|
17924345 |
2007 |
26 |
A new mutation in TP63 is associated with age-related pathology.
61
54
|
Holder-Espinasse M...Manouvrier-Hanu S
|
17609671 |
2007 |
27 |
Adenoviral-mediated gene transfer of ectodysplasin-A2 results in induction of apoptosis and cell-cycle arrest in osteosarcoma cell lines.
61
54
|
Chang B...Chaudhary PM
|
17693991 |
2007 |
28 |
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.
61
54
|
McDonald DR...Geha RS
|
17931563 |
2007 |
29 |
Constraints on utilization of the EDA-signaling pathway in threespine stickleback evolution.
61
54
|
Knecht AK...Kingsley DM
|
17371397 |
2007 |
30 |
Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias.
61
54
|
Radoja N...Morasso MI
|
17164413 |
2007 |
31 |
Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination.
61
54
|
Temmerman ST...Jain A
|
16794254 |
2006 |
32 |
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
61
54
|
Rinne T...van Bokhoven H
|
16724007 |
2006 |
33 |
Expression of p63 transcription factor in ectoderm-derived oral tissues.
61
54
|
Casasco M...Casasco A
|
17312919 |
2006 |
34 |
Carboxyl terminus of Plakophilin-1 recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly.
61
54
|
Sobolik-Delmaire T...Wahl JK
|
16632867 |
2006 |
35 |
Exclusion of p63 as a candidate gene for autosomal-dominant amelogenesis imperfecta.
54
61
|
Gu X...Nylander K
|
16546853 |
2006 |
36 |
[New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1].
61
54
|
Morlon A...Munnich A
|
16527194 |
2006 |
37 |
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.
54
61
|
Orstavik KH...Steen-Johnsen J
|
16333836 |
2006 |
38 |
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity.
54
61
|
Lo Iacono M...Calabro V
|
16319531 |
2006 |
39 |
Ellis-van Creveld syndrome.
61
54
|
Lichiardopol C...Militaru C
|
17392984 |
2006 |
40 |
NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome.
54
61
|
Cicero DO...Desideri A
|
16679535 |
2006 |
41 |
AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of Notch signaling.
54
61
|
Huang YP...Ratovitski EA
|
16177572 |
2005 |
42 |
Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings.
61
54
|
Steele JA...Kwong PC
|
16190990 |
2005 |
43 |
DNA-binding and transactivation activities are essential for TAp63 protein degradation.
54
61
|
Ying H...Xiao ZX
|
15988026 |
2005 |
44 |
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.
61
54
|
Shotelersuk V...Tongkobpetch S
|
15807690 |
2005 |
45 |
Rapp-Hodgkin syndrome and the tail of p63.
61
54
|
Chan I...Kivirikko S
|
15725251 |
2005 |
46 |
Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci.
61
54
|
O'Brien DP...Taylor JF
|
15958791 |
2005 |
47 |
ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.
61
54
|
Chan I...McGrath JA
|
15550149 |
2004 |
48 |
Rapp-Hodgkin syndrome.
54
61
|
Kim G...Shin H
|
15748593 |
2004 |
49 |
A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting.
54
61
|
Pozo G...Zenteno JC
|
15491445 |
2004 |
50 |
Induction of apoptosis by X-linked ectodermal dysplasia receptor via a caspase 8-dependent mechanism.
61
54
|
Sinha SK...Chaudhary PM
|
15280356 |
2004 |