Review Article

Small-Molecule Hormones: Molecular Mechanisms of Action

Table 2

Selected human pathologies associated with hormone receptors.

ReceptorPathology

TR
Mutation-related generalized and pituitary resistance to thyroid hormone [14]; mutations and/or altered expression in various cancers [59]
RARTranslocation in acute promyelocytic leukemia [10]; reduced expression in cancers [11]; altered signaling in neurological and psychiatric diseases [12]
VDR
Mutation-related resistance to 1α,25(OH)2D3/hereditary vitamin D resistant rickets [1315]; polymorphisms in osteoporosis [16]; mutations in alopecia [17]; altered expression and polymorphisms in various cancers [1820]; altered function in inflammation [21]; altered function in liver pathology [22]
PPAR
Mutations in insulin resistance in nonobese [23]; mutations in familial partial lipodystrophy [2325]; excessive phosphorylation in insulin resistance and obesity [26]; mutations in cancers, low expression in cancers with poor prognosis [27]; alterations in atherosclerosis, inflammation, and osteoarthritis [2830]
RXRPolymorphisms in colorectal cancer and in metabolic diseases [3133]
ER
Mutations and altered expression in breast cancer [3436]; altered posttranslational modifications in breast cancer [36, 37]; overexpression in endometriosis [38]; polymorphisms in ovulatory dysfunction [39]; impaired function in metabolic diseases [40]
AR
Mutation-related androgen insensitivity syndrome [4143]; overexpression, mutations, CAG repeat extension, excessive receptor phosphorylation in prostate cancer [26, 41, 4446]; CAG repeat extension in spinal and bulbar muscular atrophy [45, 47]; mutations and the AR gene trinucleotide repeat variations in male infertility [48]; mental disorders [41]
PRLack of expression in breast cancer [35, 36]; decreased expression in endometriosis [49]; altered expression in testis of infertile men [50]
GRMutation-related glucocorticoid resistance [51, 52]; polymorphisms in tissue-specific sensitivity to glucocorticoids and hypersensitivity to glucocorticoids [52]; polymorphisms in depression [53]
MRMutations in mineralocorticoid resistance syndrome (pseudohypoaldosteronism type 1) [54]; polymorphisms in depression [53]; mutation in severe hypertension [55]