389 related articles for article (PubMed ID: 10835624)
1. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
Chavanas S; Bodemer C; Rochat A; Hamel-Teillac D; Ali M; Irvine AD; Bonafé JL; Wilkinson J; Taïeb A; Barrandon Y; Harper JI; de Prost Y; Hovnanian A
Nat Genet; 2000 Jun; 25(2):141-2. PubMed ID: 10835624
[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. 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]
4. 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]
5. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
Sprecher E; Chavanas S; DiGiovanna JJ; Amin S; Nielsen K; Prendiville JS; Silverman R; Esterly NB; Spraker MK; Guelig E; de Luna ML; Williams ML; Buehler B; Siegfried EC; Van Maldergem L; Pfendner E; Bale SJ; Uitto J; Hovnanian A; Richard G
J Invest Dermatol; 2001 Aug; 117(2):179-87. PubMed ID: 11511292
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
Geyer AS; Ratajczak P; Pol-Rodriguez M; Millar WS; Garzon M; Richard G
Dermatology; 2005; 210(4):308-14. PubMed ID: 15942217
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Biochemical features, molecular biology and clinical relevance of the human 15-domain serine proteinase inhibitor LEKTI.
Walden M; Kreutzmann P; Drögemüller K; John H; Forssmann WG; Hans-Jürgen M
Biol Chem; 2002; 383(7-8):1139-41. PubMed ID: 12437098
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Severe hypernatremic dehydration in an infant with Netherton syndrome.
Stoll C; Alembik Y; Tchomakov D; Messer J; Heid E; Boehm N; Calvas P; Hovnanian A
Genet Couns; 2001; 12(3):237-43. PubMed ID: 11693786
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome.
Mizuno Y; Suga Y; Haruna K; Muramatsu S; Hasegawa T; Kohroh K; Shimizu T; Komatsu N; Ogawa H; Ikeda S
Clin Exp Dermatol; 2006 Sep; 31(5):677-80. PubMed ID: 16901309
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese.
Nishio Y; Noguchi E; Shibasaki M; Kamioka M; Ichikawa E; Ichikawa K; Umebayashi Y; Otsuka F; Arinami T
Genes Immun; 2003 Oct; 4(7):515-7. PubMed ID: 14551605
[TBL] [Abstract][Full Text] [Related]
20. Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.
Dagher H; Yan Wang Y; Fassett R; Savige J
Hum Mutat; 2002 Oct; 20(4):321-2. PubMed ID: 12325029
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
