(Q34260170)

1 August 2017

title

Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome (English)

1 reference

1 August 2017

1 reference

Zhimiao Lin

1

1 reference

1 August 2017

Quan Chen

2

1 reference

1 August 2017

Mingyang Lee

3

1 reference

1 August 2017

Xu Cao

4

1 reference

1 August 2017

Jie Zhang

5

1 reference

1 August 2017

Donglai Ma

6

1 reference

1 August 2017

Long Chen

7

1 reference

1 August 2017

Xiaoping Hu

8

1 reference

1 August 2017

Huijun Wang

9

1 reference

1 August 2017

Xiaowen Wang

10

1 reference

1 August 2017

Peng Zhang

11

1 reference

1 August 2017

Xuanzhu Liu

12

1 reference

1 August 2017

Liping Guan

13

1 reference

1 August 2017

Yiquan Tang

14

1 reference

1 August 2017

Haizhen Yang

15

1 reference

1 August 2017

Ping Tu

16

1 reference

1 August 2017

Dingfang Bu

17

1 reference

1 August 2017

Xuejun Zhu

18

1 reference

1 August 2017

KeWei Wang

19

1 reference

1 August 2017

Ruoyu Li

20

1 reference

1 August 2017

Yong Yang

21

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 March 2012

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

90

1 reference

1 August 2017

issue

3

1 reference

1 August 2017

page(s)

558-564

1 reference

Olmsted syndrome: report of two cases

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Activation of transient receptor potential vanilloid-3 inhibits human hair growth

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

TRPV3 and TRPV4 ion channels are not major contributors to mouse heat sensation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

The S4-S5 linker of KCNQ1 channels forms a structural scaffold with the S6 segment controlling gate closure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

KCNQ1 channels voltage dependence through a voltage-dependent binding of the S4-S5 linker to the pore domain.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

TRP channel regulates EGFR signaling in hair morphogenesis and skin barrier formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Farnesyl pyrophosphate is a novel pain-producing molecule via specific activation of TRPV3

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Thermosensitive TRP channel pore turret is part of the temperature activation pathway.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Rate, molecular spectrum, and consequences of human mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Two amino acid residues determine 2-APB sensitivity of the ion channels TRPV3 and TRPV4

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Pore region of TRPV3 ion channel is specifically required for heat activation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Atomic structure of a voltage-dependent K+ channel in a lipid membrane-like environment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

The TRPV3 mutation associated with the hairless phenotype in rodents is constitutively active

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Impaired thermosensation in mice lacking TRPV3, a heat and camphor sensor in the skin.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

TRPV3 is a temperature-sensitive vanilloid receptor-like protein.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

A heat-sensitive TRP channel expressed in keratinocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Interactions between S4-S5 linker and S6 transmembrane domain modulate gating of HERG K+ channels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Olmsted syndrome: report of two new cases and literature review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

A case of Olmsted syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

2-aminoethoxydiphenyl borate activates and sensitizes the heat-gated ion channel TRPV3.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

TRPV3 is a calcium-permeable temperature-sensitive cation channel.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309189

Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation

28 October 2018

1 reference

12 December 2020

Preventing a Perm with TRPV3

1 reference

12 December 2020

Association of a mutation in TRPV3 with defective hair growth in rodents

1 reference

12 December 2020

Etretinate: management of keratoma hereditaria mutilans in four family members

1 reference

12 December 2020

1 reference

12 December 2020

Olmsted syndrome in twins

1 reference

12 December 2020

10.1016/J.AJHG.2012.02.006

Identifiers

DOI

1 reference

1 August 2017

1 reference

1 August 2017

1 reference