|
Zlotogora-Ogur syndrome
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process.
|
25913853 |
2015 |
|
Zlotogora-Ogur syndrome
|
0.730 |
Biomarker
|
disease |
BEFREE |
Together with cleft lip and/or palate ectodermal dysplasia (CLPED1, or Zlotogora-Ogur syndrome) due to an impaired function of nectin-1, EDSS is the second known "nectinopathy" caused by mutations in a nectin adhesion molecule.
|
20691405 |
2010 |
|
Zlotogora-Ogur syndrome
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
These include the identification of mutations in the interferon regulatory factor-6 (IRF6) gene as the cause of van der Woude syndrome and the poliovirus receptor related-1 (PVRL1) gene as being responsible for an autosomal recessive ectodermal dysplasia syndrome associated with clefting.
|
14994877 |
2004 |
|
Zlotogora-Ogur syndrome
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.
|
11559849 |
2001 |
|
Zlotogora-Ogur syndrome
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
|
10932188 |
2000 |
|
Zlotogora-Ogur syndrome
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
|
10932188 |
2000 |
|
Zlotogora-Ogur syndrome
|
0.730 |
Biomarker
|
disease |
CTD_human |
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
|
10932188 |
2000 |
|
Zlotogora-Ogur syndrome
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
|
10932188 |
2000 |
|
Zlotogora-Ogur syndrome
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Cleft upper lip
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Novel insertion mutation in the PVRL1 gene in Turkish patients with non-syndromic cleft lip with/without cleft palate.
|
24581844 |
2014 |
|
Cleft upper lip
|
0.640 |
Biomarker
|
disease |
BEFREE |
Together with cleft lip and/or palate ectodermal dysplasia (CLPED1, or Zlotogora-Ogur syndrome) due to an impaired function of nectin-1, EDSS is the second known "nectinopathy" caused by mutations in a nectin adhesion molecule.
|
20691405 |
2010 |
|
Cleft upper lip
|
0.640 |
GeneticVariation
|
disease |
LHGDN |
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.
|
16674562 |
2006 |
|
Cleft upper lip
|
0.640 |
SusceptibilityMutation
|
disease |
ORPHANET |
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.
|
16674562 |
2006 |
|
Cleft upper lip
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
A study of PVRL1 mutations for non-syndromic cleft lip and/or palate among Taiwanese patients.
|
16497481 |
2006 |
|
Cleft upper lip
|
0.640 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
|
10932188 |
2000 |
|
Cleft upper lip
|
0.640 |
Biomarker
|
disease |
HPO |
|
|
|
|
Herpes Simplex Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
Furthermore, to investigate the therapeutic effects of nectin-1Ig, which can neutralize HSVs in vitro against ocular disease, transgenic mouse serum containing nectin-1Ig was dropped into the eyes of wild-type mice after HSV infection.
|
30575982 |
2019 |
|
Herpes Simplex Infections
|
0.400 |
AlteredExpression
|
group |
BEFREE |
We also found that human erythroleukemia K562 cells, which are commonly used as susceptible targets to assess NK cell cytotoxicity did not express nectin-1 on their surface and were resistant to HSV infection.
|
30759143 |
2019 |
|
Herpes Simplex Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
Here, we examined whether Cbl mediates the removal of the herpes simplex virus 1 (HSV-1) entry receptor Nectin-1 from the surface of infected cells.
|
28381567 |
2017 |
|
Herpes Simplex Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
Herpesvirus entry mediator A (HVEM), nectin-1 and nectin-2 are cellular receptors of glycoprotein D (gD) of herpes simplex virus type-2 (HSV-2).
|
28671524 |
2017 |
|
Herpes Simplex Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
Previous studies focused on the herpes simplex virus (HSV) of the Simplexvirus genus, for which both the free gD structure and the gD/nectin-1 complex structure were reported at high resolutions.
|
28542478 |
2017 |
|
Herpes Simplex Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
Herpes simplex virus (HSV) uses the cell adhesion molecule nectin-1 as a receptor to enter neurons and epithelial cells.
|
27723487 |
2016 |
|
Herpes Simplex Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
Herpes simplex virus (HSV) enters cells by means of four essential glycoproteins - gD, gH/gL, gB, activated in a cascade fashion by gD binding to one of its receptors, nectin1 and HVEM.
|
25996983 |
2015 |
|
Herpes Simplex Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
The cellular proteins nectin-1 and herpesvirus entry mediator (HVEM) can both mediate the entry of herpes simplex virus 1 (HSV-1).
|
26136572 |
2015 |
|
Herpes Simplex Infections
|
0.400 |
Biomarker
|
group |
BEFREE |
Nectin-1 is a cell surface herpes simplex virus type 1 (HSV-1) receptor that also forms a component of intercellular adherens junctions, which are typically disrupted in EMT.
|
24568312 |
2014 |