Table 2.

Selected human pathologies associated with hormone receptors.

Receptor	Pathology
TR	Mutation-related generalized and pituitary resistance to thyroid hormone [1–4]; mutations and/or altered expression in various cancers [5–9]
RAR	Translocation 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 [13–15]; polymorphisms in osteoporosis [16]; mutations in alopecia [17]; altered expression and polymorphisms in various cancers [18–20]; altered function in inflammation [21]; altered function in liver pathology [22]
PPAR	Mutations in insulin resistance in nonobese [23]; mutations in familial partial lipodystrophy [23–25]; 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 [28–30]
RXR	Polymorphisms in colorectal cancer and in metabolic diseases [31–33]
ER	Mutations and altered expression in breast cancer [34–36]; 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 [41–43]; overexpression, mutations, CAG repeat extension, excessive receptor phosphorylation in prostate cancer [26, 41, 44–46]; 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]
PR	Lack of expression in breast cancer [35, 36]; decreased expression in endometriosis [49]; altered expression in testis of infertile men [50]
GR	Mutation-related glucocorticoid resistance [51, 52]; polymorphisms in tissue-specific sensitivity to glucocorticoids and hypersensitivity to glucocorticoids [52]; polymorphisms in depression [53]
MR	Mutations in mineralocorticoid resistance syndrome (pseudohypoaldosteronism type 1) [54]; polymorphisms in depression [53]; mutation in severe hypertension [55]