Here, a list of publications supported by GENESKIN project.

Akiyama M, Titeux M, Sakai K, McMillan J.R, Tonasso L, Calvas P, Jossic F, Hovnanian A, Shimizu H. DNA-based prenatal diagnosis of Harlequin ichthyosis and characterization of ABCA12 mutation consequences. J Invest Dermatol 2007; 12: 568-573. (Participant 14B).

Botta E, Nardo T, Orioli D, Guglielmino R, Ricotti R, Bondanza S, Benedicenti F, Zambruno G, Stefanini M. Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. Hum Mutat, in press (Collaboration between participants 1A and 2A).

Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. Hum Mutat 2006; 28: 92-96. (Collaboration between participants 1A, 2A , 10, 16 and 21).

Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol 2008; 22: 165-89. (Participant 20).

Castori M, Covaciu C, Paradisi M, Zambruno G. Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. Eur J Med Genet, in press. (Participant 1A).

Castori M, Floriddia G, De Luca N, Pascucci M, Ghirri P, Boccaletti V, El Hachem M, Zambruno G, Castiglia D. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. Br J Dermatol 2008; 158: 38-44. (Participant 1A).

Castori M, Floriddia G, Pisaneschi E, Covaciu C, Paradisi M, Torrente I, Castiglia D. Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. J Dermatol Sci 2008; 51: 58-61. (Participant 1A).

Castori M, Madonna S, Giannetti L, Floriddia G, Milito M, Amato S, Castiglia D. Novel CTSC mutations in a Papillon-Lefèvre patient with recurrent pyoderma and minimal oral and palmoplantar involvement. Br J Dermatol, in press. (Participant 1A).

Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G. Schöpf-Schulz-Passarge syndrome: further delineation of thecphenotype and genetic considerations. Acta Derm Venereol, in press. (Participant 1A).

Chassaing N, Kanitakis J, Sportich S, Cordier-Alex MP, Titeux M, Calvas P, Claudy A, Berbis P, Hovnanian A. Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. J Invest Dermatol 2006; 126: 2715-7. (Participant 14B).

Clements SE, Wessagowit V, Lai-Cheong JE, Arita K, McGrath JA. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci 2008; 49: 39-42. (Participant 8).

D'Alessio M, Zambruno G, Charlesworth A, Lacour JP, Meneguzzi G. Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia. J Invest Dermatol 2008, e-pub Jun 19. (Collaboration between participants 1A, 14A and 15).

de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet 2008; 45: 161-6. (Participant 11).

de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, van Steensel MA. A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. Am J Pathol 2008; 173: 1113-9. (Participant 11).

Deraison C, Bonnart C, Lopez F, Besson C, Robinson R, Jayakumar A, Wagberg F, Brattsand M, Hachem JP, Leonardsson G, Hovnanian A. LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction. Mol Biol Cell 2007; 18: 3607-19. (Participant 14B).

Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. Clin Genet 2006; 70: 339-347. (Participant 1A).

Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008; 58: 931-50. (Collaboration between participants 1A, 4, 8, 14B, 22, 25, 27 and 28).

Franzke CW, Has C, Schulte C, Huilaja L, Tasanen K, Aumailley M, Bruckner-Tuderman L. C-terminal truncation impairs glycosylation of transmembrane collagen XVII and leads to intracellular accumulation. J Biol Chem 2006; 281: 30260-30268.(Participant 4).

Fusco F, Fimiani G, Tadini G, D’Urso M, Ursini MV. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol 2007; 56: 264-267. (Participant 2B).

Fusco F, Mercadante V, Miano MG, Ursini MV. Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene. Gene 2006; 383: 99-107. (Participant 2B).

Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV.  Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat 2008; 29: 595-604. (Collaboration between participants 2B and 17).

Garcia-Fernandez MI, Gheduzzi D, Boraldi F, Paolinelli CD, Sanchez P, Valdivielso P, Morilla MJ, Quaglino D, Guerra D, Casolari S, Bercovitch L, Pasquali-Ronchetti I. Parameters of oxidative stress are present in the circulation of PXE patients. Biochim Biophys Acta 2008; 1782: 474-81. (Participant 3).

Gheduzzi D, Boraldi F, Annovi G, DeVincenzi CP, Schurgers LJ, Vermeer C, Quaglino D, Ronchetti IP. Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients. Lab Invest 2007; 87: 998-1008. (Participant 3).

Glász-Bóna A, Medvecz M, Sajó R, Lepesi-Benkő R, Tulassay Z, Katona M, Hatvani Z, Blazsek A, Kárpáti S. Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex. J Invest Dermatol 2008, e-pub Aug 14. (Participant 26).

Grzeschik KH, Bornholdt D, Oeffner F, König A, del Carmen Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Höfling K, Oji V, Paradisi M, Schuchardt C, Szalai Z, Tadini G, Traupe H, Happle R. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 2007; 39: 833-5. (Collaboration between participants 1A, 5 and 7).

Has C, Bruckner-Tuderman L. Molecular and diagnostic aspects of genetic skin fragility. J Dermatol Sci 2006; 44: 129-44. (Participant 4).

Has C, Wessagowit V, Pascucci M, Baer C, Didona B, Wilhelm C, Pedicelli C, Locatelli A, Kohlhase J, Ashton GH, Tadini G, Zambruno G, Bruckner-Tuderman L, McGrath JA, Castiglia D. Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol 2006; 126: 1776-1783. (Collaboration between participants 1A, 4 and 8).

Kaçar N, Semerci N, Ergin S, Pascucci M, Zambruno G, Castiglia D. A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome. Br J Dermatol 2008; 158: 1375-7. (Participant 1A).

Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NGJ, Sarasin A, Stefanini M, Lehmann AR. Incidence of DNA repair deficiency disorders in Western-Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair 2008; 7: 744-750. (Collaboration between participants 2A, 10, 16 and 21).

Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A. Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol 2007; 156: 1015-9. (Collaboration between participants 9B, 14B and 17).

Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, Uitto J, Sadowski S, Collins F, Widmer R, Jonkman MF. Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. J Invest Dermatol 2007; 127: 1772-5. (Participant 22).

Oji V, Hautier JM, Ahvazi B, Hausser I, Aufenvenne K, Walker T, Seller N, Steijlen PM, Kuster W, Hovnanian A, Hennies HC, Traupe H. Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet 2006; 15: 3083-97.(Collaboration between participants 5, 6 and 14B).

Pasmooij AM, Pas HH, Bolling MC, Jonkman MF. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J Clin Invest 2007; 117: 1240-8. (Participant 22).

Pasmooij AM, Pas HH, Jansen GH, Lemmink HH, Jonkman MF. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands. Br J Dermatol 2007: 156: 861-70. (Participant 22).

Posteraro P, Pascucci M, Colombi M, Barlati S, Giannetti A, Paradisi M, Mustonen A, Zambruno G, Castiglia D. Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa. Biochem Biophys Res Commun 2005; 338: 1391-1401. (Participant 1A).

Sebban-Benin H, Pescatore A, Fusco F, Pascuale V, Gautheron J, Yamaoka S, Moncla A, Ursini MV, Courtois G. Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. Hum Mol Genet 2007; 16: 2805-15. (Participant 2B).

Titeux M, Mendonça V, Décha A, Moreira E, Magina S, Maia A, Lacaze-Buzy L, Mejía JE, Torrão L, Carvalho F, Eça-Guimarães J, Hovnanian A. Keratitis-Ichthyosis-Deafness syndrome caused by GJB2 maternal mosaicism. J Invest Dermatol 2008, e-pub Oct 9. (Participant 14B).

Zimina E, Fritsch A, Schermer B, Bakulina A, Bashkurov M, Benzing T, Bruckner-Tuderman L. Extracellular phosphorylation of collagen XVII by casein kinase 2 inhibits ectodomain shedding. J Biol Chem 2007; 282: 22737-46.(Participant 4).