메뉴 건너뛰기




Volumn 139, Issue 1, 2019, Pages 241-244

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CARCINOGENESIS; CELLULAR IMMUNITY; EPIDERMODYSPLASIA VERRUCIFORMIS; EVER 1 GENE; EVER 2 GENE; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GENOME-WIDE ASSOCIATION STUDY; HUMAN; INFECTION SENSITIVITY; KERATINOCYTE; NON MELANOMA SKIN CANCER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SQUAMOUS CELL CARCINOMA; WHOLE EXOME SEQUENCING; ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETICS; MALE; METABOLISM; MIDDLE AGED; MUTATION; PEDIGREE; STOP CODON; YOUNG ADULT;

EID: 85054428682     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2018.07.010     Document Type: Article
Times cited : (19)

References (15)
  • 1
    • 84865429528 scopus 로고    scopus 로고
    • Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
    • Crequer, A., Picard, C., Patin, E., D'Amico, A., Abhyankar, A., Munzer, M., et al. Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PLoS One, 7, 2012, e44010.
    • (2012) PLoS One , vol.7 , pp. e44010
    • Crequer, A.1    Picard, C.2    Patin, E.3    D'Amico, A.4    Abhyankar, A.5    Munzer, M.6
  • 2
    • 85048323167 scopus 로고    scopus 로고
    • Epidermodysplasia verruciformis: inborn erros of immunity of human beta-papillomaviruses
    • de Jong, S.J., Imahorn, E., Itin, P., Uitto, J., Orth, G., Jouanguy, E., et al. Epidermodysplasia verruciformis: inborn erros of immunity of human beta-papillomaviruses. Front Microbiol, 9, 2018, 1222.
    • (2018) Front Microbiol , vol.9 , pp. 1222
    • de Jong, S.J.1    Imahorn, E.2    Itin, P.3    Uitto, J.4    Orth, G.5    Jouanguy, E.6
  • 3
    • 85055867068 scopus 로고    scopus 로고
    • Crequer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to betapapillomaviruses. J Exp Med 2018b;215:2289-2310.
    • de Jong SJ, Crequer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, et al. The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to betapapillomaviruses. J Exp Med 2018b;215:2289-2310.
    • de Jong, S.J.1
  • 4
    • 85026747047 scopus 로고    scopus 로고
    • Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease
    • Imahorn, E., Yuksel, Z., Spoerri, I., Gurel, G., Imhof, C., Saracoglu, Z.N., et al. Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. J Eur Acad Dermatol Venereol 31 (2017), 1722–1726.
    • (2017) J Eur Acad Dermatol Venereol , vol.31 , pp. 1722-1726
    • Imahorn, E.1    Yuksel, Z.2    Spoerri, I.3    Gurel, G.4    Imhof, C.5    Saracoglu, Z.N.6
  • 5
    • 2942648153 scopus 로고    scopus 로고
    • Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency
    • Laffort, C., Le Deist, F., Favre, M., Caillat-Zucman, S., Radford-Weiss, I., Debre, M., et al. Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency. Lancet 363 (2004), 2051–2054.
    • (2004) Lancet , vol.363 , pp. 2051-2054
    • Laffort, C.1    Le Deist, F.2    Favre, M.3    Caillat-Zucman, S.4    Radford-Weiss, I.5    Debre, M.6
  • 6
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li, H., Durbin, R., Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformactics 25 (2009), 1754–1760.
    • (2009) Bioinformactics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 7
    • 0021141576 scopus 로고
    • Clinical observations, virologic studies, and treatment trials in patients with epidermodysplasia verruciformis, a disease induced by specific human papillomaviruses
    • Lutzner, M.A., Blanchet-Bardon, C., Orth, G., Clinical observations, virologic studies, and treatment trials in patients with epidermodysplasia verruciformis, a disease induced by specific human papillomaviruses. J Invest Dermatol 83 (1984), 18s–25s.
    • (1984) J Invest Dermatol , vol.83 , pp. 18s-25s
    • Lutzner, M.A.1    Blanchet-Bardon, C.2    Orth, G.3
  • 9
    • 51149111202 scopus 로고    scopus 로고
    • Host defenses against human papillomaviruses: lessons from epidermodysplasia verruciformis
    • Orth, G., Host defenses against human papillomaviruses: lessons from epidermodysplasia verruciformis. Curr Top Microbiol Immunol 321 (2008), 59–83.
    • (2008) Curr Top Microbiol Immunol , vol.321 , pp. 59-83
    • Orth, G.1
  • 10
    • 18744369886 scopus 로고    scopus 로고
    • Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis
    • Ramoz, N., Rueda, L.A., Bouadjar, B., Montoya, L.S., Orth, G., Favre, M., Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet 32 (2002), 579–581.
    • (2002) Nat Genet , vol.32 , pp. 579-581
    • Ramoz, N.1    Rueda, L.A.2    Bouadjar, B.3    Montoya, L.S.4    Orth, G.5    Favre, M.6
  • 12
    • 85006487028 scopus 로고    scopus 로고
    • Expanding genetics and phenotypic spectrum of epidermodysplasia verruciformis
    • Uitto, J., Vahidnezhad, H., Expanding genetics and phenotypic spectrum of epidermodysplasia verruciformis. Br J Dermatol 175 (2016), 1138–1139.
    • (2016) Br J Dermatol , vol.175 , pp. 1138-1139
    • Uitto, J.1    Vahidnezhad, H.2
  • 13
    • 85051532701 scopus 로고    scopus 로고
    • Research techniques made simple: genome-wide homozygosity/autozygosity mapping is a powerful tool to identify candidate genes in autosomal recessive genetic diseases
    • Vahidnezhad, H., Youssefian, L., Jazayeri, A., Uitto, J., Research techniques made simple: genome-wide homozygosity/autozygosity mapping is a powerful tool to identify candidate genes in autosomal recessive genetic diseases. J Invest Dermatol 138 (2018), 1893–1900.
    • (2018) J Invest Dermatol , vol.138 , pp. 1893-1900
    • Vahidnezhad, H.1    Youssefian, L.2    Jazayeri, A.3    Uitto, J.4
  • 14
    • 85042154294 scopus 로고    scopus 로고
    • Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa
    • Vahidnezhad, H., Youssefian, L., Saeidian, A.H., Zeinali, S., Abiri, M., Sotoudeh, S., et al. Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Exp Derm 138 (2018), 121–131.
    • (2018) Exp Derm , vol.138 , pp. 121-131
    • Vahidnezhad, H.1    Youssefian, L.2    Saeidian, A.H.3    Zeinali, S.4    Abiri, M.5    Sotoudeh, S.6
  • 15
    • 85058916102 scopus 로고    scopus 로고
    • Homozygous mutation in ITK associated with monogenic inborn errors of immunity underlies susceptibility to human papilloma virus infections (epidermodysplasia verruciformis)
    • Youssefian, L., Vahidnezhad, H., Majhmoudi, H., Saeidian, A.H., Aghazadeh, N., Sotoudeh, S., et al. Homozygous mutation in ITK associated with monogenic inborn errors of immunity underlies susceptibility to human papilloma virus infections (epidermodysplasia verruciformis). J Invest Dermatol, 137(Suppl. 1), 2017, S110.
    • (2017) J Invest Dermatol , vol.137 , pp. S110
    • Youssefian, L.1    Vahidnezhad, H.2    Majhmoudi, H.3    Saeidian, A.H.4    Aghazadeh, N.5    Sotoudeh, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.