Associated Papers
SPINK5 variants drive clinical variability in Netherton syndrome through Th2/Th17 skewing and influence therapeutic outcomes.
Yorgun Altunbas M et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2026
Immunological phenotype and skin modeling of Netherton syndrome.
Süßmuth K et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
2-year-old girl with severe eczema and brittle hair.
Unknown Author
Journal of Paediatrics and Child Health, 2023
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.
Pan C et al.
Diagnostics (basel, Switzerland), 2022
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
The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.
Bellon N et al.
The British Journal of Dermatology, 2021
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment.
Tiryakioğlu NO et al.
International Journal of Dermatology, 2017
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.
Dal Mas A et al.
Human Mutation, 2015
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.
Fortugno P et al.
Journal of Human Genetics, 2012
New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
Fong K et al.
Clinical and Experimental Dermatology, 2011
A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.
Tüysüz B et al.
Acta Dermato-venereologica, 2010
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome.
Descargues P et al.
The Journal of Investigative Dermatology, 2006
Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome.
Hewett DR et al.
Human Molecular Genetics, 2005
LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.
Ong C et al.
The British Journal of Dermatology, 2004
Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing.
Müller FB et al.
The British Journal of 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