TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes

Sorting Nexin 11 Regulates Lysosomal Degradation of Plasma Membrane TRPV3

(2016) Caiyue Li et al.   TRAFFIC

Functional expression of TRPV channels in T cells and their implications in immune regulation

(2015) Rakesh K. Majhi et al.   FEBS Journal

Olmsted syndrome: clinical, molecular and therapeutic aspects

(2015) Sabine Duchatelet et al.   Orphanet Journal of Rare Diseases

TRPV3: a ‘more than skinny’ channel

(2013) Bernd Nilius et al.   EXPERIMENTAL DERMATOLOGY

Olmsted syndrome: exploration of the immunological phenotype

(2013) Dina Danso-Abeam et al.   Orphanet Journal of Rare Diseases

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

(2012) Zhimiao Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome

(2012) J.E. Lai-Cheong et al.   BRITISH JOURNAL OF DERMATOLOGY

A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome

(2012) Alireza Haghighi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Distribution and Expression of Non-Neuronal Transient Receptor Potential (TRPV) Ion Channels in Rosacea

(2011) Mathias Sulk et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Olmsted syndrome: Report of two cases

(2011) GK Tharini et al.   INDIAN JOURNAL OF DERMATOLOGY

TRP Channel Regulates EGFR Signaling in Hair Morphogenesis and Skin Barrier Formation

(2010) Xiping Cheng et al.   CELL

Mucolipins: Intracellular TRPML1-3 channels

(2010) Xiping Cheng et al.   FEBS LETTERS

Olmsted syndrome

(2009) Pramod Kumar et al.   INDIAN JOURNAL OF DERMATOLOGY

SNX1 Defines an Early Endosomal Recycling Exit for Sortilin and Mannose 6-Phosphate Receptors

(2008) Muriel Mari et al.   TRAFFIC

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

(2007) Rui Xiao et al.   CELL CALCIUM