Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations-Reference-Cited by-同舟云学术

Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations

Published:2012-03 Issue:3 Volume:132 Page:575-582
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Lacroix Matthieu,Lacaze-Buzy Laetitia,Furio Laetitia,Tron Elodie,Valari Manthoula,Van der Wier Gerda,Bodemer Christine,Bygum Anette,Bursztejn Anne-Claire,Gaitanis George,Paradisi Mauro,Stratigos Alexander,Weibel Lisa,Deraison Céline,Hovnanian Alain

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference33 articles.

1. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families;Bitoun;J Invest Dermatol,2002

2. Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis;Bitoun;Prenat Diagn,2002

3. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome;Bitoun;Hum Mol Genet,2003

4. Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing;Bonnart;J Clin Invest,2010

5. A potential role for multiple tissue kallikrein serine proteases in epidermal desquamation;Borgono;J Biol Chem,2007

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1. Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review;Australasian Journal of Dermatology;2024-02-28

2. Severe Hypernatremia as Presentation of Netherton Syndrome;Global Medical Genetics;2023-11-22

3. Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene;Genes;2023-05-14

4. Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population;Pediatric Allergy and Immunology;2023-04

5. A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome;Frontiers in Genetics;2022-09-09