|
Olmsted syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The warm temperature-activated Ca<sup>2+</sup>-permeable transient receptor potential vanilloid 3 (TRPV3) channel protein is abundantly expressed in the skin keratinocytes, and dysfunctional TRPV3 causes human congenital Olmsted syndrome, characterized by skin diseases and alopecia, indicating an important role for TRPV3 in hair follicle development and hair growth.
|
31152005 |
2019 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, pathogenic 'gain-of-function' mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS.
|
29436206 |
2018 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TRPV3 are associated with various skin diseases, including Olmsted syndrome, atopic dermatitis, and rosacea.
|
30127359 |
2018 |
|
Olmsted syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3.
|
28717930 |
2017 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In silico analysis of TRPV3 could be a useful approach in predicting mutation-induced activated states of ion channels, and thus enrich our understanding of the pathogenesis of Olmsted syndrome.
|
28391651 |
2017 |
|
Olmsted syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our data confirms that TRPV3 is a lysosomal protein suggesting that Olmsted Syndrome is a lysosomal disorder.
|
27754757 |
2017 |
|
Olmsted syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
TRPV3 (transient receptor potential vanilloid subtype 3) encodes a thermosensitive Ca<sup>2+</sup> channel and is the causative gene of OS.
|
28024685 |
2017 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recent identification of gain-of-function mutations of human TRPV3 from patients with Olmsted syndrome, which is characterized by severe itching and palmoplantar and periorificial keratoderma, unveils its crucial role in chronic itch and skin diseases.
|
28377424 |
2017 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, mutations in the G573 residue of TRPV3 have been reported in seven cases of OS: G573S in five cases, and G573C and G573A mutations in one case each.
|
27273692 |
2016 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in TRPV3 associated with autosomal dominant or recessive OS continued to be reported, thus conducing to clarifying the underlying relationship between the genotype and phenotype of OS.
|
26902751 |
2016 |
|
Olmsted syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.
|
25285920 |
2015 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TRPV3 (Transient receptor potential vanilloid-3) gene have recently been identified as a cause of autosomal dominant (gain-of-function mutations) or recessive OS.
|
25886873 |
2015 |
|
Olmsted syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
This case study further implicates TRPV3 in OS pathogenesis.
|
24452206 |
2014 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
More recently, mutations in TRPV3 were linked with a rare genodermatosis known as the Olmsted syndrome.
|
23836684 |
2014 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3.
|
24758389 |
2014 |
|
Olmsted syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
A recent study identified de novo mutations causing constitutive activation of TRPV3 as a cause of the keratotic manifestations of Olmsted syndrome.
|
23692804 |
2013 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
This study supports the recent finding of TRPV3 as the gene implicated in OS and suggests that the mutation p.Gly573Ser may be a recurrent abnormality in this genodermatosis.
|
22835024 |
2012 |
|
Olmsted syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutation in TRPV3 that produces p.Gly573Ser in an individual with OS.
|
22405088 |
2012 |
|
Olmsted syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutation in TRPV3 that produces p.Gly573Ser in an individual with OS.
|
22405088 |
2012 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutation in TRPV3 that produces p.Gly573Ser in an individual with OS.
|
22405088 |
2012 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study supports the recent finding of TRPV3 as the gene implicated in OS and suggests that the mutation p.Gly573Ser may be a recurrent abnormality in this genodermatosis.
|
22835024 |
2012 |
|
Olmsted syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutation in TRPV3 that produces p.Gly573Ser in an individual with OS.
|
22405088 |
2012 |
|
Olmsted syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Olmsted syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Olmsted syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|