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Identify several novel PAX8 mutations in congenital hypothyroidism patients that impair the binding or activating abilities of PAX8 at the promoters of the target genes thyroglobulin (zeige TG Proteine) and thyroperoxidase (zeige TPO Proteine).
Data suggest that candidate genes and pathways regulated by PAX8 that could be additional targets for the therapy of ovarian carcinoma.
PAX8 has a cell specific role in governing proliferation and migration in nontransformed ovarian surface epithelium cells compared to the oviductal cells, but its reduction in serous cancer cell lines provides a common mechanism for reducing cell survival.
findings proved that iodinated TG in thyroid follicular lumen regulated TTF-1 and PAX8 expression through thyroid stimulating hormone/thyroid stimulating hormone receptor (TSH/TSHR) mediated cAMP-PKA and PLC-PKC signaling pathways.
Case Report: primary seminal vesicle carcinoma strong and diffuse nuclear labeling for PAX8.
PAX8 is expressed in both benign and malignant mesothelium, and that BAP1 (zeige RNF2 Proteine) loss is highly specific for malignant peritoneal neoplasms, in the differential with both benign mesothelial proliferations and ovarian serous tumors.
findings point to significant PTC (zeige F9 Proteine)-associated dysregulation of several PAX8 target genes, supporting the notion that PAX8-regulated molecular cascades play important roles during thyroid tumorigenesis
we replicated one known signal in PAX8 (2.6 minutes per allele, 95% CI [1.9, 3.2], P = 5.7x10-16) and identified and replicated two novel associations at VRK2 (zeige VRK2 Proteine) (2.0 minutes per allele, 95% CI [1.3, 2.7], P = 1.2x10-9; and 1.6 minutes per allele, 95% CI [1.1, 2.2], P = 7.6x10-9)
Putative PAX8 target genes are enriched for common serous epithelial ovarian cancer risk variants.
We conclude that PAX8 immunostain is negative in most cervical cell carcinomas and is less frequently expressed in endocervical adenocarcinomas as compared with the previously reported high sensitivity for ovarian and endometrial adenocarcinomas
Pax8 is required for cell proliferation of pronephric precursors and regulates the expression of hnf1b (zeige HNF1B Proteine) and wnt (zeige WNT2 Proteine) pathway genes in the kidney field.
nephrogenic transcription factors (osr1 (zeige OSR1 Proteine), osr2, hnf1b (zeige HNF1B Proteine), lhx1 (zeige LHX1 Proteine), pax8)play important role in nephrogenesis but have no pronephros induction potential upon overexpression; they activate transcription cascades reflecting activation by activin A (zeige INHBA Proteine), retinoic acid
Demonstrate the stepwise emergence of hitherto undescribed, differently Pax2 (zeige PAX2 Proteine)/Pax8- coded anterior and posterior subdomains in the posterior placodal area of mice.
These results suggest that Pax8 maybe the downstream molecule of ALK3 (zeige BMPR1A Proteine), it mediates the murine heart development via cellular senescence, which may serve as a mechanism that compensates for the cell loss via apoptosis in heart development.
Mice lacking microRNAs in Pax8-expressing cells develop hypothyroidism and end-stage renal failure
PAX8 protein expression was associated with germinal layers in human and murine forebrain and hindbrain development.
Pax8 is essential for function and survival of adult thyroid cells.
a core regulatory subcircuit composed of Pax2/8, Gata3 and Lim1 turns on a deeper layer of transcriptional regulators while activating effector genes responsible for cell signaling and tissue organization.
The Pax8 promoter appears to be autoregulated, a feature that might be responsible for the haploinsufficiency displayed by this gene.
Inducible, Pax8-rtTA-based deletion of VHL (zeige VHL Proteine) leads to organ-specific expression of epithelial HIF and erythropoietin (zeige EPO Proteine) in liver and kidney without causing pathological changes.
study concludes that Cadherin-16 (zeige CDH16 Proteine) is a novel downstream target of the transcription factor Pax8, likely since the early steps of thyroid development, and that its expression is associated with the fully differentiated state of the thyroid cell
Pax2a and Pax8 regulate cell differentiation during sensory placode formation
pax8 works with related genes pax2a/pax2b to downregulate otic expression of foxi1 (zeige FOXI1 Proteine), a necessary step for further otic development
evolutionary links between jaw and ear formation can be traced to Fgf-Foxi1 (zeige FOXI1 Proteine)-Pax8 pathways
Pax2a and Pax8 are the main effectors downstream of Fgf signals in ear formation
pax8 is initially required for normal otic induction, and subsequently pax8, pax2a and pax2b act redundantly to maintain otic fate
This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described.
paired box 8
, paired box gene 8
, paired box protein Pax-8
, paired domain gene 8
, Pax-8 protein
, Pax-8 DNA-binding transcription factor