Associated Papers
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism in SPINK5.
Guan Y et al.
Frontiers in Immunology, 2025
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 2023
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.
Wang Y et al.
Frontiers in Genetics, 2022
Biological treatments for pediatric Netherton syndrome.
Pontone M et al.
Frontiers in Pediatrics, 2022
Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome.
Murase C et al.
Journal of Dermatological Science, 2021
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome.
Konishi T et al.
The Journal of Dermatology, 2014
Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.
Komatsu N et al.
The Journal of Investigative Dermatology, 2008
Netherton syndrome: mutation analysis of two Taiwanese families.
Lin SP et al.
Archives of Dermatological Research, 2007
Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.
Shimomura Y et al.
The British Journal of Dermatology, 2005
A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene.
Mizuno Y et al.
The British Journal of Dermatology, 2005
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum.
Ishida-Yamamoto A et al.
The Journal of Investigative Dermatology, 2005
SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.
Raghunath M et al.
The Journal of Investigative Dermatology, 2004
Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides.
Komatsu N et al.
The Journal of Investigative Dermatology, 2002
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E et al.
The Journal of Investigative Dermatology, 2002
Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.
Bitoun E et al.
Prenatal Diagnosis, 2002
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 et al.
The Journal of Investigative Dermatology, 2001
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
Chavanas S et al.
Nature Genetics, 2000