BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 11952552)

  • 61. New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
    Fong K; Akdeniz S; Isi H; Taskesen M; McGrath JA; Lai-Cheong JE
    Clin Exp Dermatol; 2011 Jun; 36(4):412-5. PubMed ID: 21564178
    [TBL] [Abstract][Full Text] [Related]  

  • 62. SPINK5: both rare and common skin disease.
    Norgett EE; Kelsell DP
    Trends Mol Med; 2002 Jan; 8(1):7. PubMed ID: 11796258
    [No Abstract]   [Full Text] [Related]  

  • 63. Netherton syndrome: skin inflammation and allergy by loss of protease inhibition.
    Hovnanian A
    Cell Tissue Res; 2013 Feb; 351(2):289-300. PubMed ID: 23344365
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity.
    Descargues P; Deraison C; Bonnart C; Kreft M; Kishibe M; Ishida-Yamamoto A; Elias P; Barrandon Y; Zambruno G; Sonnenberg A; Hovnanian A
    Nat Genet; 2005 Jan; 37(1):56-65. PubMed ID: 15619623
    [TBL] [Abstract][Full Text] [Related]  

  • 65. [Netherton syndrome: a model for studying the regulation of the desquamation process].
    Descargues P; Deraison C; Bonnart C; Hovnanian A
    Med Sci (Paris); 2005 May; 21(5):457-8. PubMed ID: 15885188
    [No Abstract]   [Full Text] [Related]  

  • 66. Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation.
    Xu M; Wang L; Yin J; Xiong J; Guo Q; Yang W
    Stem Cell Res; 2021 Mar; 51():102213. PubMed ID: 33556917
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Gene polymorphism in Netherton and common atopic disease.
    Walley AJ; Chavanas S; Moffatt MF; Esnouf RM; Ubhi B; Lawrence R; Wong K; Abecasis GR; Jones EY; Harper JI; Hovnanian A; Cookson WO
    Nat Genet; 2001 Oct; 29(2):175-8. PubMed ID: 11544479
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
    Nartisa I; Kirsteina R; Neiburga KD; Zigure S; Ozola L; Grantina I; Micule I; Murmane D; Slisere B; Gailite L; Vilne B; Rots D; Taurina G; Kurjane N
    Pediatr Allergy Immunol; 2023 Apr; 34(4):e13937. PubMed ID: 37102386
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses.
    Barbieux C; Bonnet des Claustres M; Fahrner M; Petrova E; Tsoi LC; Gouin O; Leturcq F; Nicaise-Roland P; Bole C; Béziat V; Bourrat E; Schilling O; Gudjonsson JE; Hovnanian A
    J Allergy Clin Immunol; 2022 Apr; 149(4):1358-1372. PubMed ID: 34543653
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Successful treatment of Netherton syndrome with dupilumab: A case report and review of the literature.
    Wang J; Yu L; Zhang S; Wang C; Li Z; Li M; Zhang S
    J Dermatol; 2022 Jan; 49(1):165-167. PubMed ID: 34862657
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review.
    Guerra L; Fortugno P; Sinistro A; Proto V; Zambruno G; Didona B; Castiglia D
    J Dermatol; 2015 Aug; 42(8):786-94. PubMed ID: 25917539
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C.
    Özyurt K; Atasoy M; Ertaş R; Ulaş Y; Akkuş MR; Kiraz A; Hennies HC
    Turk J Pediatr; 2019; 61(4):604-607. PubMed ID: 31990481
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome.
    Descargues P; Deraison C; Prost C; Fraitag S; Mazereeuw-Hautier J; D'Alessio M; Ishida-Yamamoto A; Bodemer C; Zambruno G; Hovnanian A
    J Invest Dermatol; 2006 Jul; 126(7):1622-32. PubMed ID: 16628198
    [TBL] [Abstract][Full Text] [Related]  

  • 74. When activity requires breaking up: LEKTI proteolytic activation cascade for specific proteinase inhibition.
    Furio L; Hovnanian A
    J Invest Dermatol; 2011 Nov; 131(11):2169-73. PubMed ID: 21997416
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large-sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin.
    Zhang Z; Pan C; Wei R; Li H; Yang Y; Chen J; Li M; Yao Z
    Mol Genet Genomic Med; 2021 Mar; 9(3):e1600. PubMed ID: 33452875
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Netherton Syndrome: A Case Report and Review of Literature.
    Saleem HMK; Shahid MF; Shahbaz A; Sohail A; Shahid MA; Sachmechi I
    Cureus; 2018 Jul; 10(7):e3070. PubMed ID: 30280066
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts.
    Di WL; Larcher F; Semenova E; Talbot GE; Harper JI; Del Rio M; Thrasher AJ; Qasim W
    Mol Ther; 2011 Feb; 19(2):408-16. PubMed ID: 20877344
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
    Lacroix M; Lacaze-Buzy L; Furio L; Tron E; Valari M; Van der Wier G; Bodemer C; Bygum A; Bursztejn AC; Gaitanis G; Paradisi M; Stratigos A; Weibel L; Deraison C; Hovnanian A
    J Invest Dermatol; 2012 Mar; 132(3 Pt 1):575-82. PubMed ID: 22089833
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.
    Itoh K; Kako T; Suzuki N; Sakurai N; Sugiyama K; Yamanishi K
    J Dermatol; 2015 Dec; 42(12):1212-4. PubMed ID: 26365906
    [No Abstract]   [Full Text] [Related]  

  • 80. Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report.
    Kovacheva K; Kamburova Z; Vasilev P; Yordanova I
    Case Rep Dermatol; 2024; 16(1):47. PubMed ID: 38406644
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.