507 related articles for article (PubMed ID: 15656819)
21. 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]
22. Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.
Sprecher E; Tesfaye-Kedjela A; Ratajczak P; Bergman R; Richard G
Clin Exp Dermatol; 2004 Sep; 29(5):513-7. PubMed ID: 15347338
[TBL] [Abstract][Full Text] [Related]
23. Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
Hannula-Jouppi K; Laasanen SL; Ilander M; Furio L; Tuomiranta M; Marttila R; Jeskanen L; Häyry V; Kanerva M; Kivirikko S; Tuomi ML; Heikkilä H; Mustjoki S; Hovnanian A; Ranki A
JAMA Dermatol; 2016 Apr; 152(4):435-42. PubMed ID: 26865388
[TBL] [Abstract][Full Text] [Related]
24. Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing.
Müller FB; Hausser I; Berg D; Casper C; Maiwald R; Jung A; Jung H; Korge BP
Br J Dermatol; 2002 Mar; 146(3):495-9. PubMed ID: 11952552
[TBL] [Abstract][Full Text] [Related]
25. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome.
Bitoun E; Micheloni A; Lamant L; Bonnart C; Tartaglia-Polcini A; Cobbold C; Al Saati T; Mariotti F; Mazereeuw-Hautier J; Boralevi F; Hohl D; Harper J; Bodemer C; D'Alessio M; Hovnanian A
Hum Mol Genet; 2003 Oct; 12(19):2417-30. PubMed ID: 12915442
[TBL] [Abstract][Full Text] [Related]
26. A novel mutation in
Wang Y; Song H; Yu L; Wu N; Zheng X; Liang B; Wang P
Front Genet; 2022; 13():943264. PubMed ID: 36159989
[TBL] [Abstract][Full Text] [Related]
27. Netherton syndrome: a case report and review of the literature.
Sun JD; Linden KG
Int J Dermatol; 2006 Jun; 45(6):693-7. PubMed ID: 16796630
[TBL] [Abstract][Full Text] [Related]
28. Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
Guerra L; Fortugno P; Pedicelli C; Mazzanti C; Proto V; Zambruno G; Castiglia D
Acta Derm Venereol; 2015 Jul; 95(6):720-4. PubMed ID: 25710899
[TBL] [Abstract][Full Text] [Related]
29. Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome.
Hewett DR; Simons AL; Mangan NE; Jolin HE; Green SM; Fallon PG; McKenzie AN
Hum Mol Genet; 2005 Jan; 14(2):335-46. PubMed ID: 15590704
[TBL] [Abstract][Full Text] [Related]
30. Netherton Syndrome in a Mother and Her Two Children.
DeMoss J; Cooper L; Felts C; Wittenberg G
S D Med; 2022 Dec; 75(12):554-556. PubMed ID: 36893349
[TBL] [Abstract][Full Text] [Related]
31. The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition.
Jain SP; Jain PA; Pandey N
J Clin Diagn Res; 2016 Apr; 10(4):WD01-2. PubMed ID: 27190931
[TBL] [Abstract][Full Text] [Related]
32. A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene.
Mizuno Y; Suga Y; Muramatsu S; Hasegawa T; Shimizu T; Ogawa H
Br J Dermatol; 2005 Sep; 153(3):661-3. PubMed ID: 16120162
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing.
Tartaglia-Polcini A; Bonnart C; Micheloni A; Cianfarani F; Andrè A; Zambruno G; Hovnanian A; D'Alessio M
J Invest Dermatol; 2006 Feb; 126(2):315-24. PubMed ID: 16374478
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome.
Konishi T; Tsuda T; Sakaguchi Y; Imai Y; Ito T; Hirota S; Yamanishi K
J Dermatol; 2014 Mar; 41(3):258-61. PubMed ID: 24506793
[TBL] [Abstract][Full Text] [Related]
37. SPINK5 knockdown in organotypic human skin culture as a model system for Netherton syndrome: effect of genetic inhibition of serine proteases kallikrein 5 and kallikrein 7.
Wang S; Olt S; Schoefmann N; Stuetz A; Winiski A; Wolff-Winiski B
Exp Dermatol; 2014 Jul; 23(7):524-6. PubMed ID: 24848304
[TBL] [Abstract][Full Text] [Related]
38. LEKTI-1 in sickness and in health.
Roelandt T; Thys B; Heughebaert C; De Vroede A; De Paepe K; Roseeuw D; Rombaut B; Hachem JP
Int J Cosmet Sci; 2009 Aug; 31(4):247-54. PubMed ID: 19467033
[TBL] [Abstract][Full Text] [Related]
39. Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in
Moltrasio C; Romagnuolo M; Riva D; Colavito D; Ferrucci SM; Marzano AV; Tadini G; Brena M
Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239440
[TBL] [Abstract][Full Text] [Related]
40. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.
Fortugno P; Grosso F; Zambruno G; Pastore S; Faletra F; Castiglia D
J Hum Genet; 2012 May; 57(5):311-5. PubMed ID: 22377713
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]