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Homo sapiens
Homo sapiens
Mus musculus
Homo sapiens
Mus musculus
Homo sapiens
Mus musculus
Mus musculus
Homo sapiens
Mus musculus
Transcription Factor Encyclopedia  BETA
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No annotation is available in this section for this article. The content below is taken from a related TF, PAX8 (Homo sapiens).

Several mutations in PAX8 gene have been described in cases of permanent congenital hypothyroidism (CH). This disease is a common disease affecting 1/3000–4000 newborns. Except in rare cases due to hypothalamic or pituitary defects, CH is characterized by elevated levels of thyroid-stimulating hormone (TSH) resulting from reduced thyroid function. The disease can be subdivided into the following two groups: dysembryogenesis, which accounts for 85% of the cases, and dyshormonogenesis, which accounts for the remaining 15% of cases. The thyroid dysembryogeneses constitute an heterogenous group characterized by defects in the normal development of the gland, subdivided into ectopy (~80%), agenesis (~20% ), and hypoplasia (~5%) of the gland. The thyroid dysembryogenesis presents mainly as sporadic cases. In a minority of the cases mutations have been identified in patients with various forms of thyroid dysgenesis, affecting genes implicated in the normal embryonic development of the gland such as TITF1, FOXE1 and PAX8 [1][2][3][4][5][6][7][8][9][10][11]. In addition, the PAX8 gene is involved in the chromosomal translocation resulting in a fusion protein (PPFP) between PAX8 and peroxisome proliferator-activated receptor (PPAR)[12][13][14][15]. PPFP is a somatic tumor genetic rearrangement, wherein most of the (long) q-arm of chromosome 2 is translocated to the (short) p-arm of chromosome 3. The PAX8 promoter, which is active in thyroid follicular cells, appears to drive the expression of PPFP. The fusion protein has been identified in almost 50% of FTC (follicular thyroid carcinoma) and a much smaller proportion of its putative precursor lesion, FA (follicular adenoma).

  1. Esperante SA et al. Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. Clin. Endocrinol. (Oxf), 68(5):828-35. (PMID 17980011)
  2. Al Taji E et al. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. Eur. J. Endocrinol., 156(5):521-9. (PMID 17468187)
  3. Tonacchera M et al. Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant. Clin. Endocrinol. (Oxf), 67(1):34-40. (PMID 17437516)
  4. de Sanctis L et al. Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability. J. Clin. Endocrinol. Metab., 89(11):5669-74. (PMID 15531527)
  5. Meeus L et al. Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. J. Clin. Endocrinol. Metab., 89(9):4285-91. (PMID 15356023)
  6. Bereket A et al. Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. J. Pediatr. Endocrinol. Metab., 17(7):1021-9. (PMID 15301052)
  7. Vilain C et al. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J. Clin. Endocrinol. Metab., 86(1):234-8. (PMID 11232006)
  8. Macchia PE et al. Molecular genetics of congenital hypothyroidism. Curr. Opin. Genet. Dev., 9(3):289-94. (PMID 10377281)
  1. Tell G et al. Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism. Biochem. J., 341 ( Pt 1):89-93. (PMID 10377248)
  2. Macchia PE et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat. Genet., 19(1):83-6. (PMID 9590296)
  3. Damante G. Thyroid defects due to Pax8 gene mutations. Eur. J. Endocrinol., 139(6):563-6. (PMID 9916856)
  4. Au AY et al. PAX8-peroxisome proliferator-activated receptor gamma (PPARgamma) disrupts normal PAX8 or PPARgamma transcriptional function and stimulates follicular thyroid cell growth. Endocrinology, 147(1):367-76. (PMID 16179407)
  5. Castro P et al. PAX8-PPARgamma rearrangement is frequently detected in the follicular variant of papillary thyroid carcinoma. J. Clin. Endocrinol. Metab., 91(1):213-20. (PMID 16219715)
  6. Giordano TJ et al. Delineation, functional validation, and bioinformatic evaluation of gene expression in thyroid follicular carcinomas with the PAX8-PPARG translocation. Clin. Cancer Res., 12(7 Pt 1):1983-93. (PMID 16609007)
  7. Placzkowski KA et al. The Role of the PAX8/PPARgamma Fusion Oncogene in Thyroid Cancer. , 2008:672829. (PMID 18989374)
MeSH cloud (automatically populated)
About this section
The MeSH cloud below displays MeSH terms that are associated with this transcription factor. The physical size of the terms reflect the significance of their association with the transcription factor as determined by the Fisher's Exact Test. It should be noted that these associations do not necessarily imply a positive correlation between the described MeSH term and this transcription factor. For instance, if the MeSH term "apoptosis" occurs, it may indicate that this transcription factor can induce apoptosis (positive correlation), or prevent apoptosis (negative correlation). Methods: The transcription factor is mapped to a set of Pubmed publications through the gene-to-pubmed association as provided by NCBI. Then, a collection of MeSH terms associated with the papers are compiled, along with the frequency of each MeSH term. The Fisher's Exact Test is conducted on the frequency of each term in the collection, versus its average frequency, to determine its significance in the collection. More information on MeSH can be found on the MeSH homepage.
MeSH term Fisher's exact p-value
1 Congenital Hypothyroidism 4.1 x 10-22
2 Thyroid Dysgenesis 0.00042
3 Branchio-Oto-Renal Syndrome 0.00072
4 Polycystic Kidney, Autosomal Recessive 0.0018
5 Aniridia 0.0023
6 Waardenburg's Syndrome 0.0032
7 Carcinoma, Medullary 0.012
8 Hearing Loss, Conductive 0.013
9 Urogenital Abnormalities 0.018
10 Vitamin A Deficiency 0.024
11 Disease Models, Animal 0.025
12 Huntington Disease 0.039
MeSH term Fisher's exact p-value
1 Hypothyroidism 2.1 x 10-30
2 Thyroid Diseases 7.5 x 10-25
3 Congenital Hypothyroidism 4.1 x 10-22
4 Dwarfism 5.2 x 10-17
5 Bone Diseases, Endocrine 1.1 x 10-16
6 Bone Diseases, Developmental 3.9 x 10-11
7 Endocrine System Diseases 2.1 x 10-10
8 Genetic Diseases, Inborn 5.0 x 10-7
9 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 1.2 x 10-5
10 Bone Diseases 0.00010
11 Thyroid Dysgenesis 0.00042
12 Branchio-Oto-Renal Syndrome 0.00072
13 Polycystic Kidney, Autosomal Recessive 0.0018
14 Hearing Loss 0.0019
15 Aniridia 0.0023
16 Waardenburg's Syndrome 0.0032
17 Hearing Disorders 0.0043
18 Carcinoma, Medullary 0.012
19 Hearing Loss, Conductive 0.013
20 Musculoskeletal Diseases 0.014
21 Urogenital Abnormalities 0.018
22 Congenital Abnormalities 0.020
23 Ear Diseases 0.023
24 Vitamin A Deficiency 0.024
25 Disease Models, Animal 0.025
26 Infertility 0.025
27 Iris Diseases 0.027
28 Carcinoma, Neuroendocrine 0.028
29 Sensation Disorders 0.032
30 Polycystic Kidney Diseases 0.036
31 Huntington Disease 0.039
32 Eye Abnormalities 0.045
MGI mammalian phenotype terms (automatically populated)
No annotation is available in this section for this article. The content below is taken from a related TF, PAX8 (Homo sapiens).
postnatal growth retardation (MP:0001732) absent thyroid gland (MP:0005314) lethality at weaning (MP:0008569) abnormal kidney development (MP:0000527) male infertility (MP:0001925) decreased renal tubule number (MP:0000524) small kidney (MP:0002989) blind vagina (MP:0003534) decreased renal glomerulus number (MP:0004505) abnormal thyroid gland morphology (MP:0000681) postnatal lethality (MP:0002082) premature death (MP:0002083) abnormal middle ear morphology (MP:0000049) abnormal outer ear morphology (MP:0002177) arrest of spermatogenesis (MP:0001155) female infertility (MP:0001926) abnormal organ of Corti (MP:0000042) small ears (MP:0000018) dilated cervix (MP:0001136) vagina atresia (MP:0001144) deafness (MP:0001967) abnormal cochlear hair cell morphology (MP:0002622) abnormal caput epididymis morphology (MP:0002660) abnormal corpus epididymis morphology (MP:0002661) abnormal middle ear ossicle morphology (MP:0005105) abnormal stapes morphology (MP:0005107) abnormal action potential (MP:0005402) decreased circulating thyroxine level (MP:0005478) decreased circulating triiodothyronine level (MP:0005479) small thyroid gland (MP:0002951) absent outer ear (MP:0005579) abnormal external auditory canal (MP:0006033) testicular atrophy (MP:0003205) abnormal thyroid gland development (MP:0003421) abnormal uterus development (MP:0003572) rudimentary uterus (MP:0003573) abnormal Mullerian duct morphology (MP:0003826) abnormal pillar cell morphology (MP:0003825) abnormal adenohypophysis morphology (MP:0004163) cochlear outer hair cell degeneration (MP:0004404) abnormal cochlear inner hair cell physiology (MP:0004433) abnormal round window morphology (MP:0004480) abnormal cochlear hair cell stereociliary bundle morphology (MP:0004521) abnormal outer hair cell stereociliary bundle morphology (MP:0004527) abnormal inner hair cell synaptic ribbon morphology (MP:0004562) enlarged tectorial membrane (MP:0004591) abnormal cochlear IHC efferent innervation pattern (MP:0004633) absent thyroid follicular cells (MP:0004660) abnormal thyroid diverticulum (MP:0004662) delayed inner ear development (MP:0004664) abnormal stapedial artery morphology (MP:0004665) absent stapedial artery (MP:0004666) absent epididymis (MP:0004727) absent efferent ductules of testis (MP:0004729) decreased brainstem auditory evoked potential (MP:0004765) decreased testis weight (MP:0004852) small epididymis (MP:0004930) abnormal epididymis epithelium morphology (MP:0004933) thin myometrium (MP:0008257) decreased somatotroph cell number (MP:0008329) decreased lactotroph cell number (MP:0008332) increased thyrotroph cell number (MP:0008337) dilated oviduct (MP:0009069) absent uterine horn (MP:0009215) absent endometrium (MP:0009224) increased circulating thyroid-stimulating hormone level (MP:0005122)