Recombinant Human Serine protease inhibitor Kazal-type 5 (SPINK5), partial

1. SPINK5 gene R654H might be a risk factor for epidermal barrier dysfunction in some Japanese AD patients. PMID: 29926005
2. Early-onset atopic dermatitis was associated with rs2303067 in SPINK5, which is involved in skin barrier functioning, and late-onset was associated with rs4950928 in CHI3L1, which is involved in the immune response. Future studies should examine the early- versus late-onset subgrouping more closely PMID: 28681574
3. report, for the first time, association between SPINK5 variant rs9325071 and challenge-proven IgE-mediated food allegy PMID: 28213955
4. impaired KLK7 secretion from lamellar granules and increased LEKTI expression could underlie the insufficient activation of KLK in atopic dermatitis. PMID: 27769847
5. This report discloses a prevalent SPINK5 founder mutation in Finland and illustrates Netherton syndrome phenotype variability PMID: 26865388
6. New mutation leading to the full variety of typical features of the Netherton syndrome. PMID: 26031502
7. The results suggest that SPINK5 and ADRB2 haplotypes might play a role in the susceptibility to childhood-onset asthma PMID: 25233048
8. The effect of GATA3 on SPINK5 expression was indirect and GATA3 alone was insufficient for final differentiation of keratinocytes where full SPINK5 expression was observed. PMID: 24894987
9. these results support epistasis between SPINK5 and TSLP, which contributes to childhood asthma. PMID: 24831437
10. Netherton syndrome is caused by mutations in SPINK5, which encodes the serine protease inhibitor LEKTI. PMID: 24577329
11. Herein we report three patients with Netherton syndrome who had growth retardation associated with GH deficiency and responded well to GH therapy. PMID: 24015757
12. mesotrypsin contributes to the desquamation process by activating KLKs and degrading the intrinsic KLKs' inhibitor LEKTI PMID: 24390132
13. The E420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation. PMID: 22730493
14. major binding partners of LEKTI were found to be the antimicrobial peptide dermcidin and the serine protease cathepsin G and no kallikreins. PMID: 22588119
15. Our study represents the first identification of a Netherton disease-causing SPINK5 mutation that alters splicing without affecting canonical splice sites. PMID: 22377713
16. the SPINK5 gene polymorphisms was found not to be associated with atopic dermatitis (AD) in regard to either serum IgE levels, concurrent allergic asthma or early onset of AD PMID: 21585560
17. Lowered SPINK5 protein expression might be a contributing factor for the development of chronic rhinosinusitis. PMID: 22570283
18. Distinct SPINK5 and IL-31 gene variants (SNPs) were associated with the development of atopic eczema and non-atopic hand dermatitis in Taiwanese nurses. PMID: 22017185
19. 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. PMID: 22089833
20. The novel mutation, p.Gln333X, in the SPINK5 gene, is responsible for a mild Netherton syndrome phenotype in a Turkish pedigree. PMID: 21564178
21. Six SNPs (rs17718511, rs17860502, KN0001820, rs60978485, rs17718737, and rs1422985) and the haplotype TAA (rs60978485, rs6892205, rs2303064) in the SPINK5 gene were associated with atopic dermatitis in Koreans. PMID: 21087323
22. Caspase 14 has been implicated as a novel target of LEKTI, which has the potential to act as both a serine and a cysteine protease inhibitor. PMID: 20533828
23. study reports two male siblings affected by Netherton syndrome, which resulted from a previously undescribed splicing mutation in SPINK5 PMID: 20107740
24. Highly significant associations were detected between SPINK5 single nucleotide polymorphisms and visible eczema (but not IgE levels) and between IL13 variants and total IgE. PMID: 20085599
25. Even though the number of investigated subjects was small and hydrolytic activity was only slightly increased, the results denote that LEKTI might be diminished in atopic dermatitis PMID: 19522716
26. SPINK5's role in atopic dermatitis and skin diseases is described PMID: 11796258
27. the intron-exon organization of the gene and characterize the spink5 mutations. five mutations, one of which resulted in perinatal lethal disease, were associated with ethnic groups PMID: 11841556
28. the defective inhibitory regulation of desquamation due to SPINK5 gene mutations may cause over-desquamation of corneocytes in Netherton syndrome, leading to severe skin permeability barrier dysfunction. PMID: 11874482
29. This is a multidomain serine proteinase inhibitor with physiopathological significance. PMID: 11943586
30. REVIEW: molecular cloning, characterization of the gene, tissue distribution, congenital disases associated with mutations PMID: 12437098
31. LETKI proteolytic processing was studied in cultured keratinocytes as well as its tissue distribution and defective expression in Netherton syndrome. PMID: 12915442
32. There is an association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese. PMID: 14551605
33. LEKTI deficiency in the epidermis and in hair roots at the protein level and an aberrant expression of other proteins, especially transglutaminase1 and 3, which may account for the impaired epidermal barrier in Netherton syndrome PMID: 15304086
34. The sequence from Leu32 to Ile38 of a chimeric double-mutant domain 1 of LEKTI is a chameleon sequence that converts a short 3(10)-helix into an extended loop conformation and parts of the COOH-terminal alpha-helix of domain 1 into a beta-hairpin. PMID: 15366933
35. deficiency is related to epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin PMID: 15466487
36. in normal skin the LG system transports and secretes LEKTI earlier than KLK7 and KLK5 preventing premature loss of stratum corneum integrity/cohesion. PMID: 15675955
37. We showed that LEKTI is a potent inhibitor of a family of serine proteinases involved in extracellular matrix remodeling and its expression is downregulated in head and neck squamous cell carcinomas. PMID: 15680911
38. Homozygous frameshift mutation in SPINK5 associated with Netherton syndrome. PMID: 15942217
39. Variable amounts of SPINK5 alternative transcripts are detected in all SPINK5 transcriptionally active tissues. PMID: 16374478
40. Mutations in SPINK5 encoding the serine protease (SP) inhibitor, lymphoepithelial-Kazal-type 5 inhibitor (LEKTI), cause Netherton syndrome (NS). SP activation correlated with clinical severity, and inversely with residual LEKTI expression. PMID: 16601670
41. Uniparental disomy of maternal SPINK5 allele was indicated in the mutation analysis of two Taiwanese patients with Netherton syndrome. PMID: 17415575
42. These results identify KLK5, a key actor of the desquamation process, as the major target of LEKTI. PMID: 17596512
43. LEKTI domain 15 is a functional Kazal-type proteinase inhibitor. PMID: 17936012
44. SPINK5 mutations, causing NS, lead to truncated LEKTI; each Netherton syndrome patient possesses LEKTI of a different length, depending on the location of mutations PMID: 17989726
45. study in children and adults with atopic dermatitis found that an association with SPINK5 E420K SNP was not confirmed. However, this was associated with high IgE serum levels (p=0.011). PMID: 17989887
46. SPINK5 (LEKTI) protein was detected in sinonasal tissue and was significantly decreased in polyp samples using IHC. PMID: 18588753
47. SPINK5 mutation confers a risk of eczema when maternally inherited but is not a major eczema risk factor; no interaction between the SPINK5 risk allele or the putative KLK7 risk allele and FLG mutations ws found PMID: 18774391
48. reduced expression of LEKTI and increased expression of SCCE and SCTE in human epidermal keratinocytes after UVB irradiation may contribute to desquamation of the stratum corneum. PMID: 19118981
49. Haploinsufficiency of SPINK5 can cause the Netherton syndrome phenotype in the presence of one null mutation with homozygous G1258A polymorphisms in SPINK5, and this could impair the function of LEKTI and therefore acts as a true mutation. PMID: 19438860
50. -206G>A polymorphism in the SPINK5 is associated with asthma susceptibility in a Chinese Han population PMID: 19534795

Show More

Hide All

HGNC: 15464

OMIM: 256500

KEGG: hsa:11005

STRING: 9606.ENSP00000352936

UniGene: Hs.331555