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Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12.
Am J Hum Genet. 2015.
PMID: 25683118
Free PMC article.
Acral peeling skin syndrome associated with a novel CSTA gene mutation.
Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA, Batta K.
Muttardi K, et al. Among authors: nitoiu d.
Clin Exp Dermatol. 2016 Jun;41(4):394-8. doi: 10.1111/ced.12777. Epub 2015 Dec 18.
Clin Exp Dermatol. 2016.
PMID: 26684698
Item in Clipboard
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.
Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC, Kelsell DP.
Blaydon DC, et al. Among authors: nitoiu d.
Am J Hum Genet. 2011 Oct 7;89(4):564-71. doi: 10.1016/j.ajhg.2011.09.001. Epub 2011 Sep 22.
Am J Hum Genet. 2011.
PMID: 21944047
Free PMC article.
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Cell-cell connectivity: desmosomes and disease.
Brooke MA, Nitoiu D, Kelsell DP.
Brooke MA, et al. Among authors: nitoiu d.
J Pathol. 2012 Jan;226(2):158-71. doi: 10.1002/path.3027. Epub 2011 Nov 14.
J Pathol. 2012.
PMID: 21989576
Review.
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Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.
Nitoiu D, Etheridge SL, Kelsell DP.
Nitoiu D, et al.
Cell Commun Adhes. 2014 Jun;21(3):129-40. doi: 10.3109/15419061.2014.908854. Epub 2014 Apr 16.
Cell Commun Adhes. 2014.
PMID: 24738885
Review.
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Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion.
Gupta A, Nitoiu D, Brennan-Crispi D, Addya S, Riobo NA, Kelsell DP, Mahoney MG.
Gupta A, et al. Among authors: nitoiu d.
PLoS One. 2015 Mar 18;10(3):e0120091. doi: 10.1371/journal.pone.0120091. eCollection 2015.
PLoS One. 2015.
PMID: 25785582
Free PMC article.
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Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.
Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D, Gárdos L, Császár A, Tihanyi M, Rustin M, Burrows NP, Bennett C, Harper JI, Conrad B, Verma IC, Taibjee SM, Moss C, O'Toole EA, Kelsell DP.
Scott CA, et al. Among authors: nitoiu d.
J Invest Dermatol. 2013 Feb;133(2):573-6. doi: 10.1038/jid.2012.332. Epub 2012 Sep 20.
J Invest Dermatol. 2013.
PMID: 22992804
Free article.
No abstract available.
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