D Castiglia

Summary

Affiliation: Istituto Dermopatico dell'Immacolata
Country: Italy

Publications

  1. ncbi request reprint Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa
    Patrizia Posteraro
    Department of Clinical and Molecular Pathology, IDI IRCCS, Rome, Italy
    J Invest Dermatol 123:639-48. 2004
  2. doi request reprint Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma
    Daniele Castiglia
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    Genes Chromosomes Cancer 47:614-24. 2008
  3. ncbi request reprint T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients
    Daniele Castiglia
    Laboratory of Molecular and Cell Biology, Instituto Dermopatico dell Immacolata IRCCS Via dei Monti di Creta, 104, IT 00167 Rome, Italy
    Acta Derm Venereol 94:307-11. 2014
  4. ncbi request reprint Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition
    D Castiglia
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    J Invest Dermatol 117:731-9. 2001
  5. doi request reprint Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis
    D Castiglia
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    Clin Genet 76:392-7. 2009
  6. doi request reprint A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing
    C Covaciu
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Via dei Monti di Creta, 104, I 00167 Rome, Italy
    Br J Dermatol 165:678-82. 2011
  7. ncbi request reprint A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa
    L Ruzzi
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy
    J Invest Dermatol 116:182-7. 2001
  8. doi request reprint The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the Family Dermatology Life Quality Index
    F Sampogna
    Health Services Research Unit, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    J Eur Acad Dermatol Venereol 27:1151-5. 2013
  9. doi request reprint Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10
    C Covaciu
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Via dei Monti di Creta 104, I 00167 Rome, Italy
    Br J Dermatol 162:1384-7. 2010
  10. ncbi request reprint Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa
    P Posteraro
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    Biochem Biophys Res Commun 243:758-64. 1998

Collaborators

  • F Sampogna
  • S Tabolli
  • J M Hertz
  • P Zotti
  • L Bruckner-Tuderman
  • J Fischer
  • C Magnani
  • D D Abeni
  • Paolo A Ascierto
  • Pedro Miguel Lacal
  • Giuseppe Palmieri
  • G Zambruno
  • C Covaciu
  • Ester Alvino
  • G Di Zenzo
  • E Piccinni
  • Stefania D'Atri
  • Simona Caporali
  • M Castori
  • Giovanna Zambruno
  • Enzo Bonmassar
  • M El Hachem
  • Patrizia Posteraro
  • N De Luca
  • Claudia Covaciu
  • P Ghirri
  • Marco Castori
  • P Posteraro
  • Stefania Scala
  • Maria Napolitano
  • Gerardo Botti
  • Franco Carta
  • Antonella Manca
  • Antonio Cossu
  • Rita Pepponi
  • Milena Casula
  • Giancarlo Marra
  • Naomi De Luca
  • Maria Scaturro
  • A Diociaiuti
  • F Cianfarani
  • R Boldrini
  • P Fortugno
  • V Calabresi
  • R Maurelli
  • M Teson
  • C Has
  • E Dellambra
  • L Ruzzi
  • E Pisaneschi
  • M Sommerlund
  • F Grosso
  • P A Gregersen
  • Lauretta Levati
  • Marina Ciomei
  • Giuseppe Starace
  • G Ragone
  • A Nannipieri
  • Alberto Garbin
  • Maria Gabriella Brasca
  • G Meneguzzi
  • M Pascucci
  • G Floriddia
  • Giovanna Floriddia
  • Isabella Torrente
  • Elisa Pisaneschi
  • Mauro Paradisi
  • V Boccaletti
  • M Terracina
  • Giuseppe Castello
  • Renato Franco
  • Maria L Lombardi
  • Ileana de Michele
  • Caterina Ierano
  • Alessandro Ottaiano
  • Monica Luongo
  • Franziska Fischer
  • Patrizia Caporaso
  • Ester Simeone
  • Joseph Jiricny
  • Paola Giuliano
  • Corrado Caracò
  • Rocco A Satriano
  • Gianfranco Nicoletti
  • Francesca Mauro
  • Rosa Calemma
  • Antonella Santona
  • Cristina Zanini
  • Franco Turrini
  • Maria C Sini

Detail Information

Publications25

  1. ncbi request reprint Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa
    Patrizia Posteraro
    Department of Clinical and Molecular Pathology, IDI IRCCS, Rome, Italy
    J Invest Dermatol 123:639-48. 2004
    ..Collectively, five mutations appeared to be frequent in laminin-5 JEB patients: R635X, 29insC, E210K, W143X in LAMB3 and R95X in LAMC2. These recurrent mutations account for approximately 44% of laminin-5 JEB alleles in Italian patients...
  2. doi request reprint Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma
    Daniele Castiglia
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    Genes Chromosomes Cancer 47:614-24. 2008
    ....
  3. ncbi request reprint T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients
    Daniele Castiglia
    Laboratory of Molecular and Cell Biology, Instituto Dermopatico dell Immacolata IRCCS Via dei Monti di Creta, 104, IT 00167 Rome, Italy
    Acta Derm Venereol 94:307-11. 2014
    ..Finally, TUNEL staining showed apoptosis of basal and suprabasal keratinocytes. These findings suggest a critical role of the cellular immunity in determining the EBS-MCE phenotype...
  4. ncbi request reprint Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition
    D Castiglia
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    J Invest Dermatol 117:731-9. 2001
    ..These results correlate for the first time a functional alteration in a laminin-5 domain with a mild junctional epidermolysis bullosa phenotype...
  5. doi request reprint Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis
    D Castiglia
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    Clin Genet 76:392-7. 2009
    ..Our case is the first reported HI patient in whom the disease is due to uniparental isodisomy...
  6. doi request reprint A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing
    C Covaciu
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Via dei Monti di Creta, 104, I 00167 Rome, Italy
    Br J Dermatol 165:678-82. 2011
    ..These findings substantiate for the first time the involvement of an ESE mutation in the pathogenesis of DEB and have implications for genetic counselling of Danish families with DDEB...
  7. ncbi request reprint A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa
    L Ruzzi
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy
    J Invest Dermatol 116:182-7. 2001
    ..We therefore suggest that the exon 33-deleted COL17A1 splice variant encodes for type XVII collagen molecules that maintain a functional role and account for the mild phenotype of our patients...
  8. doi request reprint The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the Family Dermatology Life Quality Index
    F Sampogna
    Health Services Research Unit, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    J Eur Acad Dermatol Venereol 27:1151-5. 2013
    ..A specific questionnaire evaluating the family impact of dermatological conditions has been created, the Family Dermatology Life Quality Index (FDLQI), but it has not yet been translated in Italian and validated...
  9. doi request reprint Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10
    C Covaciu
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Via dei Monti di Creta 104, I 00167 Rome, Italy
    Br J Dermatol 162:1384-7. 2010
    ..However, three inbred pedigrees in which EI is transmitted as a recessive trait due to KRT10 null mutations have been described...
  10. ncbi request reprint Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa
    P Posteraro
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    Biochem Biophys Res Commun 243:758-64. 1998
    ..This result is compatible with the reduced expression of mutated laminin 5 molecules with altered biological activity, and the mild JEB phenotype observed in the patient...
  11. ncbi request reprint Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population
    M Castori
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Via dei Monti di Creta 104, Rome, Italy
    Br J Dermatol 158:38-44. 2008
    ....
  12. ncbi request reprint Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa
    M Terracina
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    J Invest Dermatol 111:744-50. 1998
    ....
  13. ncbi request reprint A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration
    G Di Zenzo
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Via dei Monti di Creta 104, 00167, Rome, Italy
    Br J Dermatol 170:1056-64. 2014
    ..The LG45 tandem has cell adhesion and protumorigenic properties. However, mutations that affect this domain are very rare and their functional effects in patients have not been explored to date...
  14. doi request reprint Family burden in epidermolysis bullosa is high independent of disease type/subtype
    Stefano Tabolli
    Istituto Dermopatico dell Immacolata Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy
    Acta Derm Venereol 90:607-11. 2010
    ..The family burden due to epidermolysis bullosa is very high independent of disease type/subtype...
  15. doi request reprint Induction of senescence pathways in Kindler syndrome primary keratinocytes
    E Piccinni
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy
    Br J Dermatol 168:1019-26. 2013
    ..This phenotypic feature is thought to be related to the decreased proliferation rate of KS keratinocytes; nevertheless, molecular mediators of such abnormal behaviour have not been fully elucidated...
  16. doi request reprint Quality of life in patients with epidermolysis bullosa
    S Tabolli
    Health Services Research Unit, Istituto Dermopatico dell Immacolata IRCCS, 00167 Rome, Italy
    Br J Dermatol 161:869-77. 2009
    ..Epidermolysis bullosa (EB) is a rare, inherited group of disorders characterized by blistering of the skin following friction or mechanical trauma. EB has a clinical and socioeconomic impact on patients and their families...
  17. ncbi request reprint Biallelic somatic inactivation of the mismatch repair gene MLH1 in a primary skin melanoma
    Daniele Castiglia
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    Genes Chromosomes Cancer 37:165-75. 2003
    ..This is the first report in which genetic defects leading to disruption of MMR function in a human melanoma have been identified...
  18. doi request reprint The cyclin-dependent kinase inhibitor PHA-848125 suppresses the in vitro growth of human melanomas sensitive or resistant to temozolomide, and shows synergistic effects in combination with this triazene compound
    Simona Caporali
    Laboratory of Molecular Oncology, Istituto Dermopatico dell Immacolata IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy
    Pharmacol Res 61:437-48. 2010
    ..Moreover this agent appears to be particularly attractive on the bases of its effectiveness against TMZ-resistant melanoma cells...
  19. ncbi request reprint A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa
    Maria Scaturro
    Laboratory of Molecular and Cell Biology, Rome, Italy
    Biochem Biophys Res Commun 309:96-103. 2003
    ..Our findings represent the first demonstration of an ER-retained mutant laminin-5 leading to a mild JEB phenotype...
  20. ncbi request reprint High-frequency microsatellite instability is associated with defective DNA mismatch repair in human melanoma
    Ester Alvino
    Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy
    J Invest Dermatol 118:79-86. 2002
    ..Further studies on a large series of tumor specimens are required to establish the frequency of mismatch repair loss in human melanoma...
  21. ncbi request reprint Human melanoma metastases express functional CXCR4
    Stefania Scala
    Department of Clinical Immunology, National Cancer Institute, G Pascale Foundation, Naples, Italy
    Clin Cancer Res 12:2427-33. 2006
    ..The chemokine receptor CXCR4 was identified as an independent predictor of poor prognosis in primary melanoma. The aim of the study was to investigate the role of CXCR4 in human melanoma metastases...
  22. ncbi request reprint BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study
    Milena Casula
    Istituto di Chimica Biomolecolare Sezione di Sassari, CNR, Località Tramariglio Alghero, 07040 Santa Maria La Palma Sassari, Italy
    J Clin Oncol 22:286-92. 2004
    ..In this study, we investigated the contribution of BRAF to melanoma susceptibility, also making a comparison with frequency of CDKN2A germline mutations in MM patients from different areas in Italy...
  23. doi request reprint Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa
    Marco Castori
    J Dermatol Sci 51:58-61. 2008
  24. ncbi request reprint Analysis of candidate genes through a proteomics-based approach in primary cell lines from malignant melanomas and their metastases
    Franco Carta
    Porto Conte Ricerche, 07041 Alghero, SS, Italy
    Melanoma Res 15:235-44. 2005
    ..Although further investigations with larger numbers of paired normal and tumour samples are needed, our findings strongly suggest that the dysregulation of stress pathways may be involved in melanoma progression...
  25. ncbi request reprint A single cycle of treatment with temozolomide, alone or combined with O(6)-benzylguanine, induces strong chemoresistance in melanoma cell clones in vitro: role of O(6)-methylguanine-DNA methyltransferase and the mismatch repair system
    Ester Alvino
    Institute of Neurobiology and Molecular Medicine, Tor Vergata Research Area, National Research Council, I 00133 Rome, Italy
    Int J Oncol 29:785-97. 2006
    ..Exposure to TMZ+BG favors the development of MGMT-independent mechanisms of TMZ resistance...