192 related articles for article (PubMed ID: 22837558)
1. Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI.
Xi-Bao Z; San-Quan Z; Yu-Qing H; Yu-Wu L; Quan L; Chang-Xing L
Indian J Dermatol; 2012 Jul; 57(4):265-8. PubMed ID: 22837558
[TBL] [Abstract][Full Text] [Related]
2. Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5.
Chao SC; Richard G; Lee JY
Br J Dermatol; 2005 Jan; 152(1):159-65. PubMed ID: 15656819
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.
Shimomura Y; Sato N; Kariya N; Takatsuka S; Ito M
Br J Dermatol; 2005 Nov; 153(5):1026-30. PubMed ID: 16225619
[TBL] [Abstract][Full Text] [Related]
5. A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.
Chao SC; Tsai YM; Lee JY
J Formos Med Assoc; 2003 Jun; 102(6):418-23. PubMed ID: 12923596
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E; Chavanas S; Irvine AD; Lonie L; Bodemer C; Paradisi M; Hamel-Teillac D; Ansai S; Mitsuhashi Y; Taïeb A; de Prost Y; Zambruno G; Harper JI; Hovnanian A
J Invest Dermatol; 2002 Feb; 118(2):352-61. PubMed ID: 11841556
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum.
Ng E; Hale CS; Meehan SA; Cohen DE
Dermatol Online J; 2014 Dec; 20(12):. PubMed ID: 25526335
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.
Di WL; Hennekam RC; Callard RE; Harper JI
Br J Dermatol; 2009 Aug; 161(2):404-12. PubMed ID: 19438860
[TBL] [Abstract][Full Text] [Related]
12. LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.
Ong C; O'Toole EA; Ghali L; Malone M; Smith VV; Callard R; Harper JI
Br J Dermatol; 2004 Dec; 151(6):1253-7. PubMed ID: 15606522
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.
Komatsu N; Saijoh K; Jayakumar A; Clayman GL; Tohyama M; Suga Y; Mizuno Y; Tsukamoto K; Taniuchi K; Takehara K; Diamandis EP
J Invest Dermatol; 2008 May; 128(5):1148-59. PubMed ID: 17989726
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.
Raghunath M; Tontsidou L; Oji V; Aufenvenne K; Schürmeyer-Horst F; Jayakumar A; Ständer H; Smolle J; Clayman GL; Traupe H
J Invest Dermatol; 2004 Sep; 123(3):474-83. PubMed ID: 15304086
[TBL] [Abstract][Full Text] [Related]
19. Netherton syndrome: mutation analysis of two Taiwanese families.
Lin SP; Huang SY; Tu ME; Wu YH; Lin CY; Lin HY; Lee-Chen GJ
Arch Dermatol Res; 2007 Jun; 299(3):145-50. PubMed ID: 17415575
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
