ST14, suppression of tumorigenicity 14, 6768

N. diseases: 170; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Taken together, the data strongly advocate this ST14 variant as the underlying genetic cause of ARIH syndrome in this first reported affected family from Pakistan. 29611532 2018
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Genetic defects in matriptase are linked to two congenital ichthyoses: autosomal recessive ichthyosis with hypotrichosis (ARIH, OMIM 610765) and ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis (IFAH, OMIM 602400). 23900022 2014
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease UNIPROT Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. 18843291 2009
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 Biomarker disease CTD_human Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. 18445049 2008
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. 18445049 2008
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease BEFREE Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. 18263585 2008
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 Biomarker disease BEFREE This work strongly indicates that reduced activity of a matriptase-prostasin proteolytic cascade is the etiological origin of human ARIH and provides an important mouse model for the exploration of matriptase function in ARIH, as well as multiple other physiological and pathological processes. 17940283 2007
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GermlineCausalMutation disease ORPHANET Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 17273967 2007
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 Biomarker disease CTD_human Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 17273967 2007
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 GeneticVariation disease UNIPROT Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 17273967 2007
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 CausalMutation disease CLINVAR
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1835851
Disease: Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis with hypotrichosis, autosomal recessive 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE Mechanistically, Toll-like receptor 4 (TLR4, LPS receptor)-sphingosine kinase 1 (SphK1) signaling underlies LPS-induced matriptase activation and PCa cell invasion. 31152147 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE In addition, the inhibition of COX-2-mediated matriptase activation by Celebrex and sulindac sulfide suppressed the androgen-independent and COX2-overexpressing PCa PC-3 cell invasion, tumor growth and lung metastasis in an orthotopic xenograft model. 28368394 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE Ac-KQLR-HMRG exhibited significant turn-on fluorogenicity in the presence of hepsin (180-fold) and matriptase (80-fold) and allowed specific fluorescence imaging of various prostate cancer cell line in vitro. 28691803 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE The results together indicate that HAI-2 is a cognate inhibitor of matriptase, and KD1 of HAI-2 plays a major role in the inhibition of cellular matritptase activation as well as human prostate cancer invasion. 29118397 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE In summary, our results establish that TMPRSS2 promotes the growth, invasion, and metastasis of prostate cancer cells via matriptase activation and extracellular matrix disruption, with implications to target these two proteases as a strategy to treat prostate cancer. 26018085 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE Knockdown of matriptase reduced the PCa cell invasion induced by HAI-2 knockdown. 24121274 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 AlteredExpression disease BEFREE In xenograft model, curcumin not only inhibits prostate cancer tumor growth and metastasis but also downregulates matriptase activity in vivo. 23466486 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE Differential tumorigenic potential and matriptase activation between PDGF B versus PDGF D in prostate cancer. 22689130 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 AlteredExpression disease BEFREE In a human PCa cell progression model, we observed that advanced PCa C-81 LNCaP cells exhibited an aggressive phenotype with increased cell migration and invasion capacity; these cells concurrently showed both enhanced ErbB-2 phosphorylation and increased matriptase zymogen activation compared with parental C-33 LNCaP cells. 20971737 2010
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 PosttranslationalModification disease BEFREE Importantly, PDGF-D/matriptase colocalization is accompanied with β-PDGFR phosphorylation in human PCa tissues. 21098708 2010
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE In vitro and xenograft animal models indicated different metastatic characteristics between PC-3 and PC-J cells, suggesting that matriptase plays an important role in the metastasis of prostate cancer. 18649735 2008
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE Matriptase and MGAT5 may play important role in the metastasis of prostate cancer. 18649738 2008