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Thermosensory and mechanosensory perception in human genetic disease.

Abstract：

:Peripheral sensory perception is established through an elaborate network of specialized neurons that mediate the translation of extraorganismal stimuli through the use of a broad array of receptors and downstream effector molecules. Studies of human genetic disorders, as well as mouse and other animal models, have identified some of the key molecules necessary for peripheral innervation and function. These findings have, in turn, yielded new insights into the developmental networks and homeostatic mechanisms necessary for the transformation of external stimuli into interpretable electrical impulses. In this review, we will summarize and discuss some of the genes/proteins implicated in two particular aspects of sensory perception, thermosensation and mechanosensation, highlighting pathways whose perturbation leads to both isolated and syndromic sensory deficits.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Tan PL,Katsanis N

doi

10.1093/hmg/ddp412

subject

Has Abstract

pub_date

2009-10-15 00:00:00

pages

R146-55

issue

R2

eissn

0964-6906

issn

1460-2083

pii

ddp412

journal_volume

18

pub_type

杂志文章,评审

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