425 related articles for article (PubMed ID: 27905021)
1. Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA; Roussaki-Schulze A; Vasilopoulos Y; Zafiriou E; Patsatsi A; Stamatis C; Gidarokosta P; Sotiriadis D; Sarafidou T; Mamuris Z
Mol Diagn Ther; 2017 Apr; 21(2):137-152. PubMed ID: 27905021
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. [A lethal variant of Netherton syndrome in a large inbred family].
Capri Y; Vanlieferinghen P; Boeuf B; Dechelotte P; Hovnanian A; Lecomte B
Arch Pediatr; 2011 Mar; 18(3):294-8. PubMed ID: 21255986
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Establishment of a mouse model of Netherton syndrome based on CRISPR/Cas9 technology.
Guo JZ; Su J; Dai H; Wang XY; Wu WB; Chen T; Zhang J; Wang WH
Eur J Dermatol; 2022 Jul; 32(4):459-463. PubMed ID: 36301754
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Netherton syndrome and its multifaceted defective protein LEKTI.
D'Alessio M; Fortugno P; Zambruno G; Hovnanian A
G Ital Dermatol Venereol; 2013 Feb; 148(1):37-51. PubMed ID: 23407075
[TBL] [Abstract][Full Text] [Related]
11. Netherton syndrome associated with growth hormone deficiency.
Aydın BK; Baş F; Tamay Z; Kılıç G; Süleyman A; Bundak R; Saka N; Özkaya E; Güler N; Darendeliler F
Pediatr Dermatol; 2014; 31(1):90-4. PubMed ID: 24015757
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.
Hamza N; Al Sukaiti N; Ahmed KAM; Romano R; Gokhale UA; Pan-Hammarström Q
Sultan Qaboos Univ Med J; 2021 Nov; 21(4):652-656. PubMed ID: 34888090
[TBL] [Abstract][Full Text] [Related]
14. Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.
Israeli S; Sarig O; Garty BZ; Indelman M; Bergman R; Sprecher E; Goldberg I
Dermatology; 2014; 228(2):183-8. PubMed ID: 24577329
[TBL] [Abstract][Full Text] [Related]
15. Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides.
Komatsu N; Takata M; Otsuki N; Ohka R; Amano O; Takehara K; Saijoh K
J Invest Dermatol; 2002 Mar; 118(3):436-43. PubMed ID: 11874482
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D; Borg I; Vornweg J; Mercieca L; Merdzanic R; Numrich J; Aquilina S; Pace NP; Fischer J
Mol Genet Genomic Med; 2021 Mar; 9(3):e1611. PubMed ID: 33534181
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
