Biologia Molecolare e Cellulare

Responsabile (F. F.) Daniele Castiglia

castiglia.jpg

Contatti

  • tel: 06/6646.4734
  • fax: 06/66464456

Personale

Elena Dellambra

Dirigente Biologo

e.dellambra@idi.it

Giovanni Di Zenzo

Dirigente Biologo

g.dizenzo@idi.it

Liliana Guerra

Dirigente Medico

l.guerra@idi.it

Teresa Odorisio

Dirigente Biologo

t.odorisio@idi.it

Francesca Cianfarani

Assistente Biologo

f.cianfarani@idi.it

Paola Fortugno

Assistente Biologo

p.fortugno@idi.it

Naomi De Luca

Tecnico di Laboratorio

n.deluca@idi.it

Massimo Teson

Tecnico di Laboratorio

m.teson@idi.it

Presentazione

Il Laboratorio di Biologia Molecolare e Cellulare è tradizionalmente impegnato nello studio di malattie rare genetiche e autoimmuni della cute. Tra le prime sono oggetto di studio le malattie dell’adesione epiteliale (epidermolisi bollose ereditarie, EB) e della cheratinizzazione (sindrome di Netherton e altre ittiosi), e più recentemente, un nuovo gruppo di displasie ectodermiche, le nectinopatie, che il Laboratorio ha contribuito a identificare e caratterizzare. Nell’ambito delle patologie bollose autoimmuni l’attività di ricerca riguarda in particolare la risposta immune umorale. I risultati ottenuti negli anni nell’attività di ricerca sulle malattie rare hanno permesso di sviluppare, validare e trasferire nella pratica clinica metodiche di diagnosi avanzata per queste patologie. Inoltre, il Laboratorio è impegnato in studi che riguardano il processo di guarigione delle ferite cutanee, in particolare nella patologia diabetica.

Attività di Ricerca

Le attività del Laboratorio di Biologia Molecolare e Cellulare relative alle malattie rare genetiche della cute riguardano principalmente:

  • l’identificazione di mutazioni
  • la definizione di correlazioni genotipo-fenotipo tramite analisi dell’espressione dei geni causativi in biopsie e cellule coltivate dei pazienti
  • l’analisi funzionale di particolari varianti di sequenza e di geni modificatori del fenotipo
  • indagini sui meccanismi molecolari e cellulari all’origine di queste malattie;
  • nuovi approcci terapeutici

Il Laboratorio offre un servizio di diagnosi molecolare sia per le epidermolisi bollose sia per la sindrome di Netherton.

Le attività del Laboratorio di Biologia Molecolare e Cellulare relative alle patologie bollose acquisite riguardano:

  • determinazione della specificità autoanticorpale
  • valutazione dei profili di reattività
  • l’analisi della dinamica della risposta immune
  • definizione del repertorio di cellule B memoria circolanti con isolamento e caratterizzazione anche in termini di patogenicità di autoanticorpi monoclonali specifici. In questo contesto, il Laboratorio ha sviluppato e messo a disposizione metodiche diagnostiche biochimiche complementari a quelle istologiche ed immunologiche

Infine, il Laboratorio svolge attività di ricerca sui meccanismi molecolari e cellulari del processo di guarigione delle ferite cutanee e delle loro alterazioni nelle patologie ulcerative croniche.

Progetti di Ricerca

Ricerca Corrente 2013-2015

  • RC 1.2 Variabilità clinica nell'epidermolisi bollosa ereditaria: difetti primari e geni modificatori (Responsabile scientifico: Daniele Castiglia).
  • RC 1.4 Le malattie bollose autoimmuni: sviluppo e validazione di strumenti diagnostici e identificazione di bersagli terapeutici (Responsabile scientifico: Giovanni Di Zenzo).
  • RC-1.5- Identificazione di parametri clinici ed immunologici predittivi della risposta a farmaci innovativi in pazienti con malattie bollose autoimmuni (Responsabile scientifico: Giovanni Di Zenzo).
  • RC 4.3   Cellule staminali epidermiche nell'invecchiamento cutaneo (Responsabile scientifico: Elena Dellambra).
  • RC 4.4 Alterazioni funzionali e molecolari della ferita diabetica (Responsabile scientifico: Teresa Odorisio).
  • RC 4.5 Nuove strategie per la ricostituzione in vitro di equivalenti cutanei per approcci terapeutici (Responsabile scientifico: Liliana Guerra).

Altri progetti

  • RF-2009-052 - Disease modifiers and novel therapeutic targets for altered tissue repair in dystrophic epidermolysis bullosa. (01/12/2011-30/11/2015). (Responsabile scientifico: Daniele Castiglia)
  • RF-2009-181.1 - Advanced products and protocols for the prevention and treatment of diabetic foot ulcers” (01/12/2011-30/11/2015). (Responsabile scientifico progetto: Liliana Guerra; Responsabile scientifico U.O.2:Teresa Odorisio)
  • RF-2009-GR-084 - Regenerative potential of the proinflammatory cytokine interleukin 22: towards new therapeutic approaches for diabetic ulcer treatment (Responsabile scientifico progetto: Francesca Cianfarani; Responsabile scientifico UO.1: Teresa Odorisio)
  • RF-2010-UNRARENET - A multicenter collaborative research network for the identification and study of rare undiagnosed patients: the impact on rare disease National Health Service network (UnRareNet). (Responsabile scientifico progetto: prof. Bruno Dallapiccola –Ospedale Pediatrico Bambino Gesù, Roma; Responsabile scientifico U.O.4-IDI: Liliana Guerra).
  • RF-2010-131 - Pemphigus vulgaris as a paradigm of autoantibody-mediated organ-specific autoimmune disorder: pathophysiology and novel tools for diagnosis and therapy”. (Responsabile scientifico: Giovanni Di Zenzo)
  • RF-2011-41 LEKTI, a multifunctional protein involved in skin desquamation and immunity: towards novel therapeutic approaches for rare and common skin diseases” (Responsabile scientifico: Daniele Castiglia)
  • RF-GR-2013-02356227 “Ectodermal dysplasia syndromes by defective nectins (nectinopathies): molecular mechanisms and clinical implications” (Responsabile scientifico progetto: Prof. Francesco Brancati; Responsabile scientifico UO2 : Sonia Cordisco)
  • E-RARE EBThera “Repurposing biomolecules for treatment of epidermolysis bullosa” (Responsabile scientifico: Daniele Castiglia)
  • SC-UNILUBECK-2012 (studio multicentrico): “Studio prospettico in pazienti affetti da malattie bollose autoimmuni per la definizione dei bersagli antigenici e della suscettibilità genetica” (Coordinatore: Dr. Enno Schmidt, Dipartimento di Dermatologia, Università di Lubecca, Lubecca, Germania; Responsabile scientifico U.O-IDI: Giovanni Di Zenzo)
  • Contratto di ricerca Exiris: “Validazione ed utilizzo di una libreria di anticorpi ad alta complessità su fago M13” (Responsabile scientifico: Giovanni Di Zenzo)

Principali Collaborazioni Italiane ed Estere

  • Dott.ssa Giovanna Zambruno e Dott.ssa May El Hachem, Ospedale Pediatrico Bambino Gesù, Roma (clinica e genetica malattie rare della cute)
  • Prof. Bruno Dallapiccola, Ospedale Pediatrico Bambino Gesù-IRCCS, Roma (clinica e genetica malattie rare della cute)
  • Dott. Marco Castori, Genetica Medica, Ospedale San Camillo-Forlanini, Roma (clinica e genetica delle malattie rare della cute)
  • Dott. Franco Pagani, ICGEB Trieste, (sviluppo di terapie basate sulla correzione dello splicing)
  • Dott.ssa Eugenia Dogliotti, Istituto Superiore di Sanità, Roma (malattie del riparo del DNA e risposte cellulari al danno al DNA)
  • Prof.ssa Miria Stefanini, Istituto di Genetica Molecolare, CNR, Pavia (malattie del riparo del DNA e risposte cellulari al danno al DNA)
  • Dott. ssa Daniela Maresco, II Università degli Studi di Napoli, Dipartimento di Farmacia (disegno e sintesi di peptidi mimetici da utilizzare a fini terapeutici)
  • Prof. Salvatore Ulisse, Dipartimento di Scienze Chirurgiche, Sapienza Università di Roma (meccanismi molecolari e cellulari implicati nella patogenesi della ferita diabetica)
  • Prof. Emanuele Cozzani, DISSAL-Sezione di Dermatologia, San Martino-IRCCS, Università degli Studi di Genova (risposta umorale di tipo IgA nelle dermatosi ad IgA lineare e di tipo IgE nel pemfigoide bolloso)
  • Dott. Paolo Uva, CRS4 Bioinformatica, POLARIS Bdg 3, Pula (CA) profili di espressione genica/analisi bioinformatica in cellule epidermiche coltivate da pazienti o modelli animali)
  • Dott.ssa Michela Flego, Department of Drug Research and Evaluation, Istituto Superiore di Sanità, Roma (anticorpi patogenetici e non patogenetici nel pemfigo)
  • Dott. Gianni Colotti, Istituto di Biologia e Patologia Molecolari, CNR, Roma (anticorpi patogenetici e non patogenetici nel pemfigo)
  • Prof L. Bruckner Tuderman e Prof Cristina Has, Dept. of Dermatology, University of Freiburg, Germany (clinica, genetica e terapia delle epidermolisi bollose ereditarie)
  • Prof. Luca Borradori, Molecular Dermatology and Stem Cell Research, Department of Clinical Research, Medical Faculty, University of Bern, 3008 Bern, Switzerland (patogenesi del pemfigo)
  • Dr. Eliane J. Muller, Institute of Animal Pathology, Vetsuisse Faculty, Bern, Switzerland (patogenesi del pemfigo)
  • Prof. Takashi Hashimoto, Department of Dermatology, Kurume University, School of Medicine, Kurume, Fukuoka, Japan (risposta umorale nel pemfigoide bolloso)
  • Prof. Michael Hertl, Department of Dermatology and Allergology, Philipp's University, Marburg, Germany (approcci diagnostici in pazienti affetti da epidermolisi bollosa acquisita)
  • Prof. Antonio Lanzavecchia, Institute for Research in Biomedicine (IRB), Bellinzona, Switzerland (isolamento anticorpi patogenetici nel pemfigo)
  • Dr. Enno Schmidt, Department of Dermatology, University of Lübeck, Germany (approcci diagnostici innovative per le malattie bollose autoimmuni)
  • Prof. Marco Carrozzo, Centre for Oral Health Research,Oral Medicine Department, University of Newcastle upon Tyne, Newcastle, Regno Unito (diagnostica del pemfigo paraneoplastico)
  • Dr. Kyle T. Amber, Department of Dermatology, UC, Irvine, (CA) USA (Infezione da pneumocisti pneumonia in pazienti affetti da malattie bollose autoimmuni)

Pubblicazioni (ultimi 5 anni)

  • Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Ouragini H, Bchetnia M, Romdhane L, Marrakchi S, Boubaker MS, Castiglia D, Hovnanian A, Abdelhak S, Turki H, Kharfi M. Genetic basis of dominant dystrophic epidermolysis bullosa in Tunisian families and co-occurrence of dominant and recessive mutations. J Eur Acad Dermatol Venereol. 2016;30:155-7.
  • Boulard C, Duvert Lehembre S, Picard-Dahan C, Kern JS, Zambruno G, Feliciani C, Marinovic B, Vabres P, Borradori L, Prost-Squarcioni C, Labeille B, Richard MA, Ingen-Housz-Oro S, Houivet E, Werth VP, Murrell DF, Hertl M, Benichou J, Joly P; International Pemphigus Study Group. Calculation of cut-off values based on the ABSIS and PDAI pemphigus scoring systems for defining moderate, significant and extensive types of pemphigus. Br J Dermatol. 2016;175:142-9.
  • Diociaiuti A, Castiglia D, Giancristoforo S, Guerra L, Proto V, Dotta A, Boldrini R, Zambruno G, El Hachem M. Frequent occurrence of aplasia cutis congenita in bullous dermolysis of the newborn. Acta Derm Venereol. 2016;96:784-7.
  • Diociaiuti A, Zambruno G, Giancristoforo S, Proto V, Boldrini R, Castiglia D, El Hachem M. Acral skin atrophy in an infant: an early clue to Kindler syndrome diagnosis. J Eur Acad Dermatol Venereol. 2016;30:1046-9.
  • Di Zenzo G, Amber KT, Sayar BS, Müller EJ, Borradori L. Immune response in pemphigus and beyond: progresses and emerging concepts. Semin Immunopathol. 2016;38:57-74.
  • El Hachem M, Fortugno P, Palmeri A, Helmer Citterich M, Diociaiuti A, Proto V, Boldrini R, Zambruno G, Castiglia D. Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response. Acta Derm Venereol 2016 Apr 14. [Epub ahead of print].
  • Ellebrecht CT, Bhoj VG, Nace A, Choi EJ, Mao X, Cho MJ, Di Zenzo G, Lanzavecchia A, Seykora JT, Cotsarelis G, Milone MC, Payne AS. Reengineering chimeric antigen receptor T cells for targeted therapy of autoimmune disease. Science. 2016 Jun 30. [Epub ahead of print].
  • Ghigliotti G, Di Zenzo G, Cozzani E, Rongioletti F, De Col E, Pastorino C, Murialdo G, Parodi A. Paraneoplastic Autoimmune multi-organ syndrome: association with retroperitoneal Kaposi's Sarcoma. Acta Derm Venereol. 2016;96:261-2.
  • Guerra L, Mazzanti C, Calabresi V, De Luca N, Zambruno G, Di Zenzo G. Pemphigoid Gestationis Complicating an Egg Donation Pregnancy. Acta Derm Venereol 2016;96:695-6.
  • Guerra L, Pacifico V, Calabresi V, De Luca N, Castiglia D, Angelo C, Zambruno G, Di Zenzo G. Childhood epidermolysis bullosa acquisita during squaric acid dibutylester (SADBE) immunotherapy for alopecia areata. Br J Dermatol 2016 May 21. [Epub ahead of print].
  • Lombardo GA, Pilla MA, Benucci R, Monopoli A, Baliva G, Gobello T, Di Zenzo G, Zambruno G, Guerra L. Paraneoplastic epidermolysis bullosa acquisita associated with thyroid carcinoma. Acta Derm Venereol. 2016;96:414-5.
  • Mayer B, Silló P, Mazán M, Pintér D, Medvecz M, Has C, Castiglia D, Petit F, Charlesworth A,. Hatvani Zs, Pamjav H, Kárpáti S. A unique LAMB3 splice mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries. Br J Dermatol 2016, Apr 7. [Epub ahead of print].
  • Maurelli R, Tinaburri L, Gangi F, Bondanza S, Severi AL, Scarponi C, Albanesi C, Mesiti G, Guerra L, Capogrossi MC, Dellambra E. The role of oncogenic Ras in human skin tumorigenesis depends on clonogenic potential of the founding keratinocytes. J Cell Sci. 2016;129:1003-17.
  • Numata S, Teye K, Krol R, Okamatsu Y, Hashikawa Keiko, Matsuda M, Fortugno P, Di Zenzo G, Castiglia D, Zambruno G, Hamada T, Hashimoto T. A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome. Exp Dermatol. 2016;25:568-70.
  • Arseni L, Lanzafame M, Compe E, Fortugno P, Afonso-Barroso A, Peverali FA, Lehmann AR, Zambruno G, Egly JM, Stefanini M, Orioli D. TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin. Proc Natl Acad Sci USA. 2015, 112:1499-504.
  • Avitabile S, Odorisio T, Madonna S, Eyerich S, Guerra L, Eyerich K, Zambruno G, Cavani A, Cianfarani F. Interleukin-22 promotes wound repair in diabetes by improving keratinocyte pro-healing functions. J Invest Dermatol. 2015;135:2862-70.
  • Boccaletti V, Zambruno G, Castiglia D, Magnani C, Tognetti E, Fabrizi G, Cortelazzi C, Pagliarello C, Di Nuzzo S. Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen. Pediatr Dermatol. 2015;32:e42-7.
  • Cozzani E, Di Zenzo G, Calabresi V, Carrozzo M, Burlando M, Longanesi L, Cerri A, Caproni M, Sera F, Antiga E, Quagliono P, Marzano AV, Parodi A. Autoantibody Profile of a Cohort of 78 Italian Patients with Mucous Membrane Pemphigoid: Correlation Between Reactivity Profile and Clinical Involvement. Acta Derm Venereol 2015 Dec 3 [Epub ahead of print].
  • Dal Mas A*, Fortugno P* (equally contributors), Donadon I, Levati L, #Castiglia D, #Pagani F. (#co-corresponding Authors). Exon-specific U1s correct SPINK5 Exon 11 skipping caused by a synonymous substitution that affects a bifunctional splicing regulatory element. Hum Mutat. 2015, 36:504-12.
  • Di Zenzo G, Zambruno G. Clonal analysis of B cell response in pemphigus course: towards more effective therapies. J Invest Dermatol. 2015;135:651-4.
  • El Hachem M, Diociaiuti A, Proto V, Fortugno P, Zambruno G, Castiglia D*, Naim M* .(*Co-corresponding). Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree. Eur J Dermatol. 2015;25:14-9.
  • Feliciani C, Joly P, Jonkman MF, Zambruno G, Zillikens D, Ioannides D, Kowalewski C, Jedlickova H, Kárpáti S, Marinovic B, Mimouni D, Uzun S, Yayli S, Hertl M, Borradori L. Management of bullous pemphigoid: the European Dermatology Forum consensus in collaboration with the European Academy of Dermatology and Venereology. Br J Dermatol. 2015;172:867-77.
  • Giamboi-Miraglia A, Cianfarani F, Cattani C, Lena AM, Serra V, Campione E, Terrinoni A, Zambruno G, Odorisio T, Di Daniele N, Melino G, Candi E. The E3 ligase Itch knockout mice show hyperproliferation and wound healing alteration. FEBS J. 2015;282:4435-49.
  • Guerra L, Fortugno P, Pedicelli C, Mazzanti C, Proto V, Zambruno G, Castiglia D. Ichthyosis linearis circumflexa as the only clinical manifestation of Netherton Syndrome. Acta Derm Venereol. 2015, 95:720-4.
  • Guerra L, Fortugno P, Sinistro A, Proto V, Zambruno G, Didona B, Castiglia D. Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review. J Dermatol. 2015;42:786-94.
  • Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G. Ichthyosis with confetti: clinics, molecular genetics and management. Orphanet J Rare Dis. 2015, 10:115.
  • Has C, Chmel N, Levati L, Neri I, Sonnenwald T, Pigors M, Godbole K, Dudhbhate A, Bruckner-Tuderman L, Zambruno G, Castiglia D. FERMT1 promoter mutations in patients with Kindler syndrome. Clin Genet. 2015;88:248-54.
  • Hertl M, Jedlickova H, Karpati S, Marinovic B, Uzun S, Yayli S, Mimouni D, Borradori L, Feliciani C, Ioannides D, Joly P, Kowalewski C, Zambruno G, Zillikens D, Jonkman MF. Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV). J Eur Acad Dermatol Venereol. 2015;29:405-14.
  • Kiritsi D, Valari M, Fortugno P, Hausser I, Lykopoulou L, Zambruno G, Fischer J, Bruckner-Tuderman L, Jakob T, Has C. Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations. J Allergy Clin Immunol. 2015;135:280-3.
  • Lanzafame M, Botta E, Teson M, Fortugno P, Zambruno G, Stefanini M, Orioli D. Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes. Exp Dermatol. 2015;24:314-6.
  • Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Recurrent Mutations in the basic domain of TWIST2 cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015;97:99-110.
  • Murrell DF, Marinovic B, Caux F, Prost C, Ahmed R, Wozniak K, Amagai M, Bauer J, Beissert S, Borradori L, Culton D, Fairley JA, Fivenson D, Jonkman MF, Marinkovich MP, Woodley D, Zone J, Aoki V, Bernard P, Bruckner-Tuderman L, Cianchini G, Venning V, Diaz L, Eming R, Grando SA, Hall RP, Hashimoto T, Herrero-González JE, Hertl M, Joly P, Karpati S, Kim J, Chan Kim S, Korman NJ, Kowalewski C, Lee SE, Rubenstein DR, Sprecher E, Yancey K, Zambruno G, Zillikens D, Doan S, Daniel BS, Werth VP. Definitions and outcome measures for mucous membrane pemphigoid: recommendations of an international panel of experts. J Am Acad Dermatol. 2015;72:168-74.
  • Romani L, Diociaiuti A, D'Argenio P, El Hachem M, Gargiullo L, Boldrini R, De Pità O, Petroni S, Zambruno G. A case of neonatal linear IgA bullous dermatosis with severe eye involvement. Acta Derm Venereol. 2015;95:1015-7.
  • Sinistro A, Calabresi V, Lupi F, Sera F, Frezzolini A, Ruffelli M, De Pità O, Camaioni D, Cianchini G, Di Zenzo G. Pathogenic activity of anti-desmoglein autoantibodies parallels disease severity in rituximab-treated patients with pemphigus vulgaris. Eur J Dermatol. 2015;25:578-85.
  • Yuen WY, Di Zenzo G, Jonkman MF, Pas HH. New versatile monoclonal antibodies against type XVII collagen endodomain that distinguish type XVII collagen-related epidermolysis bullosa subtypes. J Eur Acad Dermatol Venereol. 2015 Sep 2 [Epub ahead of print].
  • Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, Ben Halim N, Romdhane L, Ouragini H, Marrakchi S, Boubaker MS, Meddeb Cherif M, Castiglia D, Hovnanian A, Abdelhak S, Turki H. Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia. Arch Dermatol Res 2014;306:405-11.
  • Calabresi V, Sinistro A, Cozzani E, Cerasaro C, Lolicato F, Muscianese M, Parodi A, Didona B, Zambruno G, Di Zenzo G. Sensitivity of different assays for the serological diagnosis of epidermolysis bullosa acquisita: analysis of a cohort of 24 Italian patients. J Eur Acad Dermatol Venereol 2014;28:483-90.
  • Castiglia D, El Hachem M, Diociaiuti A, Carbone T, De Luca N, Pascucci M, Zambruno G, Cavani A. T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients. Acta Derm Venereol 2014;94:307-11.
  • Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L. Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. Eur J Hum Genet 2014;22:1298-304.
  • Diociaiuti A, Fortugno P, El Hachem M, Angelo C, Proto V, De Luca N, Martinelli D, Boldrini R, Castiglia D, Zambruno G. Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. Acta Derm Venereol 2014;94:579-82.
  • Di Zenzo G, El Hachem M, Diociaiuti A, Boldrini R, Calabresi V, Cianfarani F, Fortugno P, Piccinni E, Zambruno G, Castiglia D. A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration. Br J Dermatol 2014;170:1056-64.
  • Di Zenzo G, Carrozzo M, Chan LS. Urban legend series: mucous membrane pemphigoid. Oral Dis 2014;20:35-54.
  • El Hachem M*, Zambruno G*, Bourdon-Lanoy E, Ciasulli A, Buisson C, Hadj-Rabia S, Diociaiuti A, Gouveia CF, Hernández-Martín A, de Lucas Laguna R, Dolenc-Voljč M, Tadini G, Salvatori G, De Ranieri C, Leclerc-Mercier S, Bodemer C. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis 2014;9:76. *co-first Authors
  • Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014;70:1103-26.
  • Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F. Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. J Invest Dermatol 2014;134:2146-53.
  • Khudhur AS, Di Zenzo G, Carrozzo M. Oral lichenoid tissue reactions: diagnosis and classification. Expert Rev Mol Diagn 2014;14:169-84.
  • Odorisio T, Di Salvio M, Orecchia A, Di Zenzo G, Piccinni E, Cianfarani F, Travaglione A, Uva P, Bellei B, Conti A, Zambruno G, Castiglia D. Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity. Hum Mol Genet 2014;23:3907-22.
  • Orecchia A, Mettouchi A, Uva P, Simon GC, Arcelli D, Avitabile S, Ragone G, Meneguzzi G, Pfenninger KH, Zambruno G, Failla CM. Endothelial cell adhesion to soluble vascular endothelial growth factor receptor-1 triggers a cell dynamic and angiogenic phenotype. FASEB J 2014;28:692-704.
  • Amato J, Stellato MI, Pizzo E, Petraccone L, Oliviero G, Borbone N, Piccialli G, Orecchia A, Bellei B, Castiglia D, Giancola C. PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study. Mol Biosyst 2013;9:3166-74.
  • Cianfarani F, Toietta G, Di Rocco G, Cesareo E, Zambruno G, Odorisio T. Diabetes impairs adipose tissue-derived stem cell function and efficiency in promoting wound healing. Wound Repair Regen 2013, 21:545-53.
  • Cozzani E, Di Zenzo G, Riva S, Calabresi V, Sera F, Drosera M, Parodi A. Are clinical phenotype and autoantibody profile always concordant in pemphigus ? A preliminary study in a cohort of pemphigus patients. Eur J Dermatol 2013, 23:40-8.
  • D'Alessio M, Fortugno P, Zambruno G, Hovnanian A. Netherton syndrome and its multifaceted defective protein LEKTI. G Ital Dermatol Venereol 2013, 148:37-51.
  • Diociaiuti A, Castiglia D, Fortugno P, Bartuli A, Pascucci M, Zambruno G, El Hachem M. Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5. Pediatr Dermatol 2013;30:e65-7.
  • Diociaiuti A, Castiglia D, Morini F, Boldrini R, Fortugno P, Zambruno G, El Hachem M. Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation. Acta Derm Venereol 2013;93:116-8.
  • Korkina LG, Pastore S, Dellambra E, De Luca C. New molecular and cellular targets for chemoprevention and treatment of skin tumors by plant polyphenols: a critical review. Curr Med Chem. 2013;20(7):852-68.
  • Luo L, Uehara H, Zhang X, Das SK, Olsen T, Holt D, Simonis JM, Jackman K, Singh N, Miya TR, Huang W, Ahmed F, Bastos-Carvalho A, Le YZ, Mamalis C, Chiodo VA, Hauswirth WW, Baffi J, Lacal PM, Orecchia A, Ferrara N, Gao G, -Young-Hee K, Fu Y, Owen L, Albuquerque R, Baehr W, Thomas K, Li DY, Chalam KV, Shibuya M, Grisanti S, Wilson DJ, Ambati J, Ambati BK. Photoreceptor avascular privilege is shielded by soluble VEGF receptor-1.Elife 2013, 2:e00324.
  • Paolini C, Orecchia A, Failla CM, Gallinari P, Zambruno G, Steinkühler C. Skin equivalents: a tool for the discovery and validation of pharmacodynamic biomarkers. Cancer Invest 2013;31:60-6.
  • Pastore S, Lulli D, Maurelli R, Dellambra E, De Luca C, Korkina LG. Resveratrol induces long-lasting IL-8 expression and peculiar EGFR activation/distribution in human keratinocytes: mechanisms and implications for skin administration. PLoS One. 2013;8(3):e59632.
  • Piccinni E, Di Zenzo G, Maurelli R, Dellambra E, Teson M, Has C, Zambruno G, Castiglia D. Induction of senescence pathways in Kindler syndrome primary keratinocytes. Br J Dermatol 201;168:1019-26.
  • Pomponi D, *Di Zenzo G, Zennaro D, Calabresi V, Eming R, Zuzzi S, Bernardi ML, Scala E, Mari A. Detection of IgG and IgE reactivity to BP180 using the ISAC® microarray system. Br J Dermatol 2013;168:1205-14. *co-primi autori
  • Postel R, Margadant C, Fischer B, Kreft M, Janssen H, Secades P, Zambruno G, Sonnenberg A. Kindlin-1 mutant zebrafish as an in vivo model system to study adhesion mechanisms in the epidermis. J Invest Dermatol 2013;133:2180-90.
  • Sampogna F, Tabolli S, Di Pietro C, Castiglia D, Zambruno G, Abeni D. The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the Family Dermatology Life Quality Index. J Eur Acad Dermatol Venereol 2013;27:1151-5.
  • Alpigiani MG, Salvati P, Schiaffino MC, Occella C, Castiglia D, Covaciu C, Lorini R. A new SPINK5 mutation in a patient with Netherton syndrome: a case report. Pediatr Dermatol. 2012;29:521-2.
  • Cianfarani F, Mastroeni S, Odorisio T, Passarelli F, Cattani C, Mannooranparampil TJ, Fortes C, Failla CM. Expression of vascular endothelial growth factor-C in primary cutaneous melanoma predicts sentinel lymph node positivity. J Cutan Pathol. 2012;39:826-34.
  • Di Zenzo G, Zambruno G, Borradori L. Endemic pemphigus foliaceus: towards understanding autoimmune mechanisms of disease development. J Invest Dermatol .2012;132:2499-502.
  • Di Zenzo G, della Torre R, Zambruno G, Borradori L. Bullous pemphigoid: from the clinic to the bench. Clin Dermatol. 2012;30:3-16.
  • Di Zenzo G, Di Lullo G, Corti D, Calabresi V, Sinistro A, Vanzetta F, Didona B, Cianchini G, Hertl M, Eming R, Amagai M, Ohyama B, Hashimoto T, Sloostra J, Sallusto F, Zambruno G, Lanzavecchia A. Pemphigus autoantibodies generated through somatic mutations target the desmoglein-3 cis-interface. J Clin Invest. 2012;122:3781-90.
  • Fortugno P, Furio L, Teson M, Berretti M, El Hachem M, Zambruno G, Hovnanian A, D'Alessio M. The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.Hum Mol Genet. 2012;21:4187-200.
  • Fortugno P, Grosso F, Zambruno G, Pastore S, Faletra F, Castiglia D. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. J Hum Genet. 2012;57:311-5.
  • Jedlickova H, Müller R, Castiglia D, Kovacevic M, Feit J. Dystrophic epidermolysis bullosa pruriginosa with autoantibodies against collagen VII. Eur J Dermatol 2012;22:541-2.
  • Licarete E, Ganz S, Recknagel M, Di Zenzo G, Hashimoto T, Hertl M, Zambruno G, Hundorfean G, Mudter J, Neurath M, Bruckner-Tuderman L, Sitaru C. Prevalence of collagen VII-specific autoantibodies in patients with autoimmune and inflammatory diseases. BMC Immunol. 2012;13:16.
  • Murrell DF, Daniel BS, Joly P, Borradori L, Amagai M, Hashimoto T, Caux F, Marinovic B, Sinha AA, Hertl M, Bernard P, Sirois D, Cianchini G, Fairley JA, Jonkman MF, Pandya AG, Rubenstein D, Zillikens D, Payne AS, Woodley D, Zambruno G, Aoki V, Pincelli C, Diaz L, Hall RP, Meurer M, Mascaro JM Jr, Schmidt E, Shimizu H, Zone J, Swerlick R, Mimouni D, Culton D, Lipozencic J, Bince B, Grando SA, Bystryn JC, Werth VP. Definitions and outcome measures for bullous pemphigoid: recommendations by an international panel of experts. J Am Acad Dermatol. 2012;66:479-85.
  • Odorisio T, De Luca N, Vesci L, Luisi PL, Stano P, Zambruno G, Pisano C. The atypical retinoid E-3-(3'-Adamantan-1-yl-4'-methoxybiphenyl-4-yl)-2-propenoic acid (ST1898) displays comedolytic activity in the rhino mouse model. Eur J Dermatol. 2012;22:505-11.
  • Pastore S, Lulli D, Pascarella A, Maurelli R,Dellambra E, Potapovich A, Kostyuk V, De Luca C, Korkina L. Resveratrol enhances solar UV-induced responses in normal human epidermal keratinocytes. Photochem Photobiol. 2012;88(6):1522-30.
  • Rivetti di Val Cervo P, Lena AM, Nicoloso M, Rossi S, Mancini M, Zhou H, Saintigny G, Dellambra E, Odorisio T, Mahé C, Calin GA, Candi E, Melino G. p63-microRNA feedback in keratinocyte senescence. Proc Natl Acad Sci U S A. 2012;109:1133-8.
  • Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, Sette M, Campione E, Didona B, Annicchiarico-Petruzzelli M, Zambruno G, Melino G, Candi E. Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis. Cell Death Dis. 2012;3:e416.
  • Viticchiè G, Lena AM, Cianfarani F, Odorisio T, Annicchiarico-Petruzzelli M, Melino G, Candi E. MicroRNA-203 contributes to skin re-epithelialization. Cell Death Dis. 2012;3:e435.
  • Cascella R, Foti Cuzzola V, Lepre T, Galli E, Moschese V, Chini L, Mazzanti C, Fortugno P, Novelli G, Giardina E. Full sequencing of the FLG gene in Italian patients with atopic eczema: evidence of new mutations, but lack of an association. J Invest Dermatol. 2011;131:982-4.
  • Castori M, Castiglia D, Brancati F, Foglio M, Heath S, Floriddia G, Madonna S, Fischer J, Zambruno G. Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. Clin Genet. 2011;79:92-5.
  • Cianfarani F, Bernardini S, De Luca N, Dellambra E, Tatangelo L, Tiveron C, Niessen CM, Zambruno G, Castiglia D, Odorisio T. Impaired keratinocyte proliferative and clonogenic potential in transgenic mice overexpressing 14-3-3σ in the epidermis. J Invest Dermatol. 2011;131:1821-9.
  • Covaciu C, Grosso F, Pisaneschi E, Zambruno G, Gregersen PA, Sommerlund M, Hertz JM, Castiglia D. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. Br J Dermatol. 2011;165:678-82.
  • Cozzani E, Di Zenzo G, Calabresi V, Caproni M, Schena D, Quaglino P, Marzano AV, Fabbri P, Rebora A, Parodi A. Anti-desmoplakins antibodies in erythema multiforme and Stevens–Johnson syndrome sera: pathogenic or epiphenomenon ? Eur J Dermatol. 2011;21:32-6.
  • Cuadrado-Corrales N, Sánchez-Jimeno C, García M, Ayuso C, De Lucas R, Vicario JL, Conti CJ, Zambruno G, Escamez MJ, Del Rio M. A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa. Dermatology. 2011;223:219-21.
  • Di Zenzo G, Thoma-Uszynski S, Calabresi V, Fontao L, Hofmann SC, Lacour JP, Sera F, Bruckner-Tuderman L, Zambruno G, Borradori L and Hertl M. Demonstration of epitope spreading phenomena in bullous pemphigoid: results of a prospective multicenter study. J Invest Dermatol. 2011;131:2271-80.
  • Di Zenzo G, Joly P, Zambruno G, Borradori L. Sensitivity of immunofluorescence studies vs enzyme-linked immunosorbent assay for diagnosis of bullous pemphigoid. Arch Dermatol. 2011;147:1454-6.
  • Fortugno P, Bresciani A, Paolini C, Pazzagli C, El Hachem M, D'Alessio M, Zambruno G. Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis. J Invest Dermatol.2011;131:2223-32.
  • García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M. Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. Br J Dermatol 2011;165:683-92.
  • Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J, Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat. 2011;32:1204-12.
  • Levati L, Pagani E, Romani S, Castiglia D, Piccinni E, Covaciu C, Caporaso P, Bondanza S, Antonetti FR, Bonmassar E, Martelli F, Alvino E, D'Atri S. MicroRNA-155 targets the SKI gene in human melanoma cell lines. Pigment Cell Melanoma Res. 2011;24:538-50.
  • Mazzucchelli I, Garofoli F, Decembrino L, Castiglia D, Tadini G, Bellingeri A, Borghesi A, Tzialla C, Manzoni P, Stronati M. A novel LAMA3 mutation in a newborn with junctional epidermolysis bullosa herlitz type. Neonatology. 2011;99:188-91.
  • Orecchia A, Scarponi C, Di Felice F, Cesarini E, Avitabile S, Mai A, Mauro ML, Sirri V, Zambruno G, Albanesi C, Camilloni G, Failla CM. Sirtinol treatment reduces inflammation in human dermal microvascular endothelial cells. PLoS One 2011;6:e24307. Erratum in: PLoS One. 2011;6(10).
  • Pacho F, Zambruno G, Calabresi V, Kiritsi D, Schneider H. Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon. J Med Genet. 2011;48:640-4.
  • Pastore S, Lulli D, Potapovich AI, Fidanza P, Kostyuk VA, Dellambra E, De Luca C, Maurelli R, Korkina LG. Differential modulation of stress-inflammation responses by plant polyphenols in cultured normal human keratinocytes and immortalized HaCaT cells. J Dermatol Sci. 2011;63(2):104-14.
  • Pedace L, Barboni L, Pozzetto E, Amantea A, Zambruno G, Preziosi N, Benedicenti F, Boni S, De Brasi D, Panetta C, Ferraro C, De Bernardo C, Castori M, Grammatico P. Molecular characterization of 11 Italian patients with Darier disease. Eur J Dermatol. 2011;21:334-8.
  • Pedace L, Castiglia D, De Simone P, Castori M, De Luca N, Amantea A, Binni F, Majore S, Cozzolino AM, De Bernardo C, Zambruno G, Catricalà C, Grammatico P. AXIN2 germline mutations are rare in familial melanoma. Genes Chromosomes Cancer. 2011;50:370-3.
  • Pruneddu S, Castiglia D, Floriddia G, Cottoni F, Zambruno G. COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only. Dermatology. 2011;222:10-4.
  • Ruffini F, Failla CM, Orecchia A, Bani MR, Dorio AS, Fortes C, Zambruno G, Graziani G, Giavazzi R, D'Atri S, Lacal PM. Expression of the soluble vascular endothelial growth factor receptor-1 in cutaneous melanoma: role in tumour progression. Br J Dermatol. 2011;164:1061-70.
  • Sestito R, Madonna S, Scarponi C, Cianfarani F, Failla CM, Cavani A, Girolomoni G, Albanesi C. STAT3-dependent effects of IL-22 in human keratinocytes are counterregulated by sirtuin 1 through a direct inhibition of STAT3 acetylation. FASEB J. 2011;25:916-27.
  • van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA. The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat. 2011;32:1100-7.