Property Summary

NCBI Gene PubMed Count 70
Grant Count 24
R01 Count 13
Funding $3,198,574.85
PubMed Score 449.69
PubTator Score 141.82

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Gene RIF (65)

PMID Text
26865388 This report discloses a prevalent SPINK5 founder mutation in Finland and illustrates Netherton syndrome phenotype variability
26031502 New mutation leading to the full variety of typical features of the Netherton syndrome.
25233048 The results suggest that SPINK5 and ADRB2 haplotypes might play a role in the susceptibility to childhood-onset asthma
24894987 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.
24831437 these results support epistasis between SPINK5 and TSLP, which contributes to childhood asthma.
24577329 Netherton syndrome is caused by mutations in SPINK5, which encodes the serine protease inhibitor LEKTI.
24390132 mesotrypsin contributes to the desquamation process by activating KLKs and degrading the intrinsic KLKs' inhibitor LEKTI
24015757 Herein we report three patients with Netherton syndrome who had growth retardation associated with GH deficiency and responded well to GH therapy.
22730493 The E420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation.
22588119 major binding partners of LEKTI were found to be the antimicrobial peptide dermcidin and the serine protease cathepsin G and no kallikreins.
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AA Sequence

MKIATVSVLLPLALCLIQDAASKNEDQEMCHEFQAFMKNGKLFCPQDKKFFQSLDGIMFINKCATCKMIL      1 - 70
EKEAKSQKRARHLARAPKATAPTELNCDDFKKGERDGDFICPDYYEAVCGTDGKTYDNRCALCAENAKTG     71 - 140
SQIGVKSEGECKSSNPEQDVCSAFRPFVRDGRLGCTRENDPVLGPDGKTHGNKCAMCAELFLKEAENAKR    141 - 210
EGETRIRRNAEKDFCKEYEKQVRNGRLFCTRESDPVRGPDGRMHGNKCALCAEIFKQRFSEENSKTDQNL    211 - 280
GKAEEKTKVKREIVKLCSQYQNQAKNGILFCTRENDPIRGPDGKMHGNLCSMCQAYFQAENEEKKKAEAR    281 - 350
ARNKRESGKATSYAELCSEYRKLVRNGKLACTRENDPIQGPDGKVHGNTCSMCEVFFQAEEEEKKKKEGK    351 - 420
SRNKRQSKSTASFEELCSEYRKSRKNGRLFCTRENDPIQGPDGKMHGNTCSMCEAFFQQEERARAKAKRE    421 - 490
AAKEICSEFRDQVRNGTLICTREHNPVRGPDGKMHGNKCAMCASVFKLEEEEKKNDKEEKGKVEAEKVKR    491 - 560
EAVQELCSEYRHYVRNGRLPCTRENDPIEGLDGKIHGNTCSMCEAFFQQEAKEKERAEPRAKVKREAEKE    561 - 630
TCDEFRRLLQNGKLFCTRENDPVRGPDGKTHGNKCAMCKAVFQKENEERKRKEEEDQRNAAGHGSSGGGG    631 - 700
GNTQDECAEYREQMKNGRLSCTRESDPVRDADGKSYNNQCTMCKAKLEREAERKNEYSRSRSNGTGSESG    701 - 770
KDTCDEFRSQMKNGKLICTRESDPVRGPDGKTHGNKCTMCKEKLEREAAEKKKKEDEDRSNTGERSNTGE    771 - 840
RSNDKEDLCREFRSMQRNGKLICTRENNPVRGPYGKMHINKCAMCQSIFDREANERKKKDEEKSSSKPSN    841 - 910
NAKDECSEFRNYIRNNELICPRENDPVHGADGKFYTNKCYMCRAVFLTEALERAKLQEKPSHVRASQEED    911 - 980
SPDSFSSLDSEMCKDYRVLPRIGYLCPKDLKPVCGDDGQTYNNPCMLCHENLIRQTNTHIRSTGKCEESS    981 - 1050
TPGTTAASMPPSDE                                                           1051 - 1064
//

Text Mined References (72)

PMID Year Title
26865388 2016 Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
26031502 2015 New mutation leading to the full variety of typical features of the Netherton syndrome.
25233048 2015 SPINK5 and ADRB2 haplotypes are risk factors for asthma in Mexican pediatric patients.
25153381 2014 Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy.
25131691 2014 Mechanisms of abnormal lamellar body secretion and the dysfunctional skin barrier in patients with atopic dermatitis.
24894987 2014 Regulation of serine protease inhibitor Kazal type-5 (SPINK5) gene expression in the keratinocytes.
24831437 2014 Epistasis between serine protease inhibitor Kazal-type 5 (SPINK5) and thymic stromal lymphopoietin (TSLP) genes contributes to childhood asthma.
24577329 2014 Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.
24390132 2014 Keratinocyte-specific mesotrypsin contributes to the desquamation process via kallikrein activation and LEKTI degradation.
24015757 Netherton syndrome associated with growth hormone deficiency.
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