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Serine peptidase inhibitor, Kazal type 5

This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAIR, CAN, Kallikrein, KLK6, Trypsin
Papers on SPINK5
A case of netherton syndrome: successful treatment with omalizumab and pulse prednisolone and its effects on cytokines and immunoglobulin levels.
Yalcin, Antalya, Turkey. In Immunopharmacol Immunotoxicol, Dec 2015
CONTEXT: Netherton syndrome (NS) is associated with the mutation in the SPINK5 gene, which codes LEKTI (lymphoepithelial Kazaltype related inhibitor), a serine protease inhibitor.
Allelic Variation of Cytochrome P450s Drives Resistance to Bednet Insecticides in a Major Malaria Vector.
Wondji et al., Liverpool, United Kingdom. In Plos Genet, Oct 2015
Scale up of Long Lasting Insecticide Nets (LLINs) has massively contributed to reduce malaria mortality across Africa.
The Genetics and Epigenetics of Atopic Dermatitis-Filaggrin and Other Polymorphisms.
Lu et al., Changsha, China. In Clin Rev Allergy Immunol, Oct 2015
Mutations in the human filaggrin gene (FLG) are the most significant and well-replicated genetic mutation associated with AD, and other mutations associated with epidermal barriers such as SPINK5, FLG-2, SPRR3, and CLDN1 have all been linked to AD. Gene variants may also contribute to the abnormal innate and adaptive responses found in AD, including mutations in PRRs and AMPs, TSLP and TSLPR, IL-1 family cytokines and receptors genes, vitamin D pathway genes, FCER1A, and Th2 and other cytokines genes.
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review.
Castiglia et al., Roma, Italy. In J Dermatol, Aug 2015
NS is due to SPINK5 gene mutations, which cause absent or decreased expression of the encoded protein lymphoepithelial Kazal-type-related inhibitor (LEKTI) in all stratified epithelia.
A Comprehensive Review of the Cosmeceutical Benefits of Vanda Species (Orchidaceae).
Awadh et al., In Nat Prod Commun, Aug 2015
Additionally, orchid extracts provide skin hydration by stimulating aquaporin 3 (AQP3) and LEKTI protein expression.
Combination of Insecticide Treated Nets and Indoor Residual Spraying in Northern Tanzania Provides Additional Reduction in Vector Population Density and Malaria Transmission Rates Compared to Insecticide Treated Nets Alone: A Randomised Control Trial.
Rowland et al., London, United Kingdom. In Plos One, 2014
Indoor residual spraying (IRS) combined with insecticide treated nets (ITN) has been implemented together in several sub-Saharan countries with inconclusive evidence that the combined intervention provides added benefit.
Petri Net and Probabilistic Model Checking Based Approach for the Modelling, Simulation and Verification of Internet Worm Propagation.
Ahmad et al., Islamabad, Pakistan. In Plos One, 2014
This is why in this study we suggest a framework based on Petri Nets and Model Checking through which we can meticulously examine and validate these models.
A Sulfated Glycosaminoglycan Linkage Region Is a Novel Type of Human Natural Killer-1 (HNK-1) Epitope Expressed on Aggrecan in Perineuronal Nets.
Oka et al., Kyoto, Japan. In Plos One, 2014
We previously demonstrated that expression of the HNK-1 epitope is mostly abolished in knockout mice for GlcAT-P (B3gat1), a major glucuronyltransferase required for HNK-1 biosynthesis, but remained in specific regions such as perineuronal nets (PNNs) in these mutant mice.
Mechanisms of abnormal lamellar body secretion and the dysfunctional skin barrier in patients with atopic dermatitis.
Wakefield et al., San Francisco, United States. In J Allergy Clin Immunol, 2014
Although best known are mutations in filaggrin (FLG), mutations in other member of the fused S-100 family of proteins (ie, hornerin [hrn] and filaggrin 2 [flg-2]); the cornified envelope precursor (ie, SPRR3); mattrin, which is encoded by TMEM79 and regulates the assembly of lamellar bodies; SPINK5, which encodes the serine protease inhibitor lymphoepithelial Kazal-type trypsin inhibitor type 1; and the fatty acid transporter fatty acid transport protein 4 have all been linked to AD.
Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy.
Hovnanian et al., In Biol Chem, 2014
NS is caused by loss of function mutations in SPINK5 encoding lympho-epithelial Kazal-type inhibitor (LEKTI), a secreted multi-domain serine protease inhibitor expressed in stratified epithelia.
Infection-induced NETosis is a dynamic process involving neutrophil multitasking in vivo.
Kubes et al., Calgary, Canada. In Nat Med, 2012
Neutrophil extracellular traps (NETs) are released as neutrophils die in vitro in a process requiring hours, leaving a temporal gap that invasive microbes may exploit.
The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome.
Mills et al., London, United Kingdom. In J Proteomics, 2012
major binding partners of LEKTI were found to be the antimicrobial peptide dermcidin and the serine protease cathepsin G and no kallikreins.
Low SPINK5 expression in chronic rhinosinusitis.
Brieger et al., Mainz, Germany. In Laryngoscope, 2012
Lowered SPINK5 protein expression might be a contributing factor for the development of chronic rhinosinusitis.
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.
Castiglia et al., Roma, Italy. In J Hum Genet, 2012
Our study represents the first identification of a Netherton disease-causing SPINK5 mutation that alters splicing without affecting canonical splice sites.
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
Hovnanian et al., Toulouse, France. In J Invest Dermatol, 2012
New SPINK5 defects in 12 patients, who presented a clinical triad suggestive of Netherton syndrome with variations in inter- and intra-familial disease expression were disclosed.
Distinct SPINK5 and IL-31 polymorphisms are associated with atopic eczema and non-atopic hand dermatitis in Taiwanese nursing population.
Chen et al., Kao-hsiung, Taiwan. In Exp Dermatol, 2011
Distinct SPINK5 and IL-31 gene variants (SNPs) were associated with the development of atopic eczema and non-atopic hand dermatitis in Taiwanese nurses.
Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome.
Bugge et al., Bethesda, United States. In Nat Genet, 2010
Deficiency in the serine protease inhibitor LEKTI is the etiological origin of Netherton syndrome, which causes detachment of the stratum corneum and chronic inflammation.
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity.
Hovnanian et al., Toulouse, France. In Nat Genet, 2005
key regulator of epidermal protease activity
Gene polymorphism in Netherton and common atopic disease.
Cookson et al., Oxford, United Kingdom. In Nat Genet, 2001
The gene underlying Netherton disease (SPINK5) encodes a 15-domain serine proteinase inhibitor (LEKTI) which is expressed in epithelial and mucosal surfaces and in the thymus.
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
Hovnanian et al., Oxford, United Kingdom. In Nat Genet, 2000
We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500).
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