179 related articles for article (PubMed ID: 37239440)
1. 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]
2. 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]
3. 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]
4. 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]
5. Netherton syndrome: A neonatal case with respiratory insufficiency.
Okulu E; Tunc G; Erdeve O; Mumcu Y; Atasay B; Ince E; Arsan S
Arch Argent Pediatr; 2018 Aug; 116(4):e609-e611. PubMed ID: 30016041
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant.
Schepis C; Siragusa M; Centofanti A; Vinci M; Calì F
Dermatol Online J; 2019 Jul; 25(7):. PubMed ID: 31450277
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. Analysis of All 34 Exons of the SPINK5 Gene in Japanese Atopic Dermatitis Patients.
Morizane S; Ouchida M; Sunagawa K; Sugimoto S; Kobashi M; Sugihara S; Nomura H; Tsuji K; Sato A; Miura Y; Hattori H; Tada K; Huh WK; Seno A; Iwatsuki K
Acta Med Okayama; 2018 Jun; 72(3):275-282. PubMed ID: 29926005
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A proinflammatory role of KLK6 protease in Netherton syndrome.
Zingkou E; Pampalakis G; Charla E; Nauroy P; Kiritsi D; Sotiropoulou G
J Dermatol Sci; 2019 Jul; 95(1):28-35. PubMed ID: 31255470
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A New Splice-site Mutation of
Erden E; Ceylan AC; Emre S
Balkan J Med Genet; 2020 Jun; 23(1):91-94. PubMed ID: 32953415
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]