El Hachem M - Search Results

1

Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.

Logli E, Marzuolo E, D'Agostino M, Conti LA, Lena AM, Diociaiuti A, Dellambra E, Has C, Cianfanelli V, Zambruno G, El Hachem M, Magenta A, Candi E, Condorelli AG. Logli E, et al. Among authors: el hachem m. Hum Mol Genet. 2022 Apr 22;31(8):1308-1324. doi: 10.1093/hmg/ddab318. Hum Mol Genet. 2022. PMID: 34740256 Free PMC article.

2

Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.

Posteraro P, De Luca N, Meneguzzi G, El Hachem M, Angelo C, Gobello T, Tadini G, Zambruno G, Castiglia D. Posteraro P, et al. Among authors: el hachem m. J Invest Dermatol. 2004 Oct;123(4):639-48. doi: 10.1111/j.0022-202X.2004.23302.x. J Invest Dermatol. 2004. PMID: 15373767 Free article.

3

Necrosis of the tongue as first symptom of Polyarteritis Nodosa (PAN): unusual presentation of a rare disease in children.

Buonuomo PS, El Hachem M, Callea F, Bracaglia C, Diociaiuti A, Pardeo M, Campana A, Insalaco A, Cortis E, Ugazio AG. Buonuomo PS, et al. Among authors: el hachem m. Rheumatol Int. 2013 Apr;33(4):1071-3. doi: 10.1007/s00296-010-1642-8. Epub 2010 Dec 7. Rheumatol Int. 2013. PMID: 21136262

4

Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis.

Fortugno P, Bresciani A, Paolini C, Pazzagli C, El Hachem M, D'Alessio M, Zambruno G. Fortugno P, et al. Among authors: el hachem m. J Invest Dermatol. 2011 Nov;131(11):2223-32. doi: 10.1038/jid.2011.174. Epub 2011 Jun 23. J Invest Dermatol. 2011. PMID: 21697885 Free article.

5

Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation.

Diociaiuti A, Castiglia D, Morini F, Boldrini R, Fortugno P, Zambruno G, El Hachem M. Diociaiuti A, et al. Among authors: el hachem m. Acta Derm Venereol. 2013 Jan;93(1):116-8. doi: 10.2340/00015555-1381. Acta Derm Venereol. 2013. PMID: 22674212 Free article. No abstract available.

6

The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.

Fortugno P, Furio L, Teson M, Berretti M, El Hachem M, Zambruno G, Hovnanian A, D'Alessio M. Fortugno P, et al. Among authors: el hachem m. Hum Mol Genet. 2012 Oct 1;21(19):4187-200. doi: 10.1093/hmg/dds243. Epub 2012 Jun 23. Hum Mol Genet. 2012. PMID: 22730493

7

Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.

Diociaiuti A, Castiglia D, Fortugno P, Bartuli A, Pascucci M, Zambruno G, El Hachem M. Diociaiuti A, et al. Among authors: el hachem m. Pediatr Dermatol. 2013 Jul-Aug;30(4):e65-7. doi: 10.1111/pde.12076. Epub 2013 Jan 17. Pediatr Dermatol. 2013. PMID: 23331056

8

Congenital myxoid and pigmented dermatofibrosarcoma protuberans: a case report.

El Hachem M, Diociaiuti A, Latella E, Zama M, Lambiase C, Giraldi L, Surrenti T, Callea F. El Hachem M, et al. Pediatr Dermatol. 2013 Sep-Oct;30(5):e74-7. doi: 10.1111/pde.12131. Epub 2013 Mar 28. Pediatr Dermatol. 2013. PMID: 23534369

9

T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients.

Castiglia D, El Hachem M, Diociaiuti A, Carbone T, De Luca N, Pascucci M, Zambruno G, Cavani A. Castiglia D, et al. Among authors: el hachem m. Acta Derm Venereol. 2014 May;94(3):307-11. doi: 10.2340/00015555-1691. Acta Derm Venereol. 2014. PMID: 24104543 Free article.

10

Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10.

Diociaiuti A, Fortugno P, El Hachem M, Angelo C, Proto V, De Luca N, Martinelli D, Boldrini R, Castiglia D, Zambruno G. Diociaiuti A, et al. Among authors: el hachem m. Acta Derm Venereol. 2014 Sep;94(5):579-82. doi: 10.2340/00015555-1796. Acta Derm Venereol. 2014. PMID: 24626314 Free article.

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