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Paired box 8

PAX8
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. [provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: CAN, HAD, RET, BRAF, PAX2
Papers on PAX8
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
New
Kim et al., Seoul, South Korea. In Ann Lab Med, Mar 2016
All coding exons of TSHR, PAX8, TPO, DUOX2, DUOXA2, and SCL5A5 were sequenced.
Immunohistochemistry of ductal adenocarcinoma of the prostate and adenocarcinomas of non-prostatic origin: a comparative study.
New
Egevad et al., Stockholm, Sweden. In Apmis, Feb 2016
Slides were stained for estrogen, progesterone and androgen receptor, prolactin, PSA, prostein, PSMA, PSAP, CDX2, lysozyme, villin, monoclonal CEA, CK7, CK20, HMWCK, p63, p504s, c-Myc, EGFR, Ki-67, p16, p21, p27, p53, PTEN, ERG, and PAX-8.
Unsuspected Xp11 Translocation Renal Neoplasm Associated With Contralateral Clear Cell Carcinoma.
New
Zeppa et al., Pagani, Italy. In Int J Surg Pathol, Feb 2016
Immunohistochemical panel showed negativity for cytokeratin-pan, cytokeratin-7, PAX8, and CD10 but positive immunostaining for cathepsin K, racemase, Melan-A, and TFE3.
Peritoneal malignant mesothelioma (PMM), and primary peritoneal serous carcinoma (PPSC) and reactive mesothelial hyperplasia (RMH) of the peritoneum. Immunohistochemical and fluorescence in situ hybridisation (FISH) analyses.
New
Hiroshima et al., Tokorozawa, Japan. In J Clin Pathol, Feb 2016
METHODS: To help differentiate PMM from PPSC and RMH, we used immunohistochemistry to examine mesothelial-associated markers (calretinin, AE1/AE3, CK5/6, CAM5.2, D2-40, WT-1, HBME1, thrombomodulin), adenocarcinoma-associated markers (CEA, BerEP4, MOC31, ER (estrogen receptor), PgR, TTF-1, Claudin-4, Pax8), and malignant-related and benign-related markers (epithelial membrane antigen (EMA), desmin, GLUT-1, CD146 and IMP3), and FISH to examine for homozygous deletion of 9p21.
How to approach the many faces of endometrioid carcinoma.
Review
New
Malpica, Houston, United States. In Mod Pathol, Jan 2016
Undifferentiated carcinoma tends to be negative for PAX8 and ER/PR with variable expression of keratins and can be associated with microsatellite instability (may be part of Lynch syndrome).
Thyroid-like Follicular Carcinoma of the Kidney and Papillary Renal Cell Carcinoma with Thyroid-like Feature: Comparison of Two Cases and Literature Review.
Review
New
Han et al., Jinan, China. In Ann Clin Lab Sci, Nov 2015
The former entirely consisted of thyroid-like follicular architecture and the tumor cells were diffusely positive for PAX-8, but negative for CK7, AMACR, and CD10.
Nephron organoids derived from human pluripotent stem cells model kidney development and injury.
New
Impact
Bonventre et al., Boston, United States. In Nat Biotechnol, Nov 2015
The NPCs possess the developmental potential of their in vivo counterparts and form PAX8(+)LHX1(+) renal vesicles that self-organize into nephron structures.
Genome-wide significant risk associations for mucinous ovarian carcinoma.
New
Impact
Ovarian Cancer Association Consortium et al., In Nat Genet, Aug 2015
We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 × 10(-4), false discovery rate (FDR) = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09).
[Clinicopathologic study of primary renal hemangioblastoma].
New
Rao et al., Nanjing, China. In Zhonghua Bing Li Xue Za Zhi, Jun 2015
Immunohistochemical study showed that the stromal cells were positive for alpha-inhibin (3/3), S-100 protein (3/3), EGFR (2/2), PAX-2 (2/2), PAX-8 (2/2) and CA9 (2/2) but negative for CKpan (2/2) and HMB45 (2/2).
Landscape of gene fusions in epithelial cancers: seq and ye shall find.
Review
Chinnaiyan et al., Ann Arbor, United States. In Genome Med, 2014
Tumor-specific gene fusions can serve as diagnostic biomarkers or help define molecular subtypes of tumors; for example, gene fusions involving oncogenes such as ERG, ETV1, TFE3, NUT, POU5F1, NFIB, PLAG1, and PAX8 are diagnostically useful.
Mixed epithelial and stromal tumor of the kidney: report of a rare case and review of literature.
Review
Fu et al., Shanghai, China. In Int J Clin Exp Pathol, 2014
By additional immunohistochemistry investigations, the epithelial component was positive for cytokeratin-7, high molecular weight cytokeratin, and PAX-8.
Tubulocystic renal cell carcinoma with poorly differentiated foci is indicative of aggressive behavior: clinicopathologic study of two cases and review of the literature.
Review
He et al., Hangzhou, China. In Int J Clin Exp Pathol, 2014
Immunohistochemistry, in both tumors, both TCRCC component and PD foci showed the similar immunoprofiles, i.e., labeling strongly and diffusely with PAX8, AMACR and Vimentin, and focally with CK34βE12 but not with renal cell carcinoma marker or P63.
Generation of functional thyroid from embryonic stem cells.
Impact
Costagliola et al., Brussels, Belgium. In Nature, 2012
Here we report that a transient overexpression of the transcription factors NKX2-1 and PAX8 is sufficient to direct mouse embryonic stem-cell differentiation into thyroid follicular cells that organize into three-dimensional follicular structures when treated with thyrotropin.
Graded levels of Pax2a and Pax8 regulate cell differentiation during sensory placode formation.
GeneRIF
Nechiporuk et al., Portland, United States. In Development, 2012
Pax2a and Pax8 regulate cell differentiation during sensory placode formation
Utility of PAX8 and PAX2 immunohistochemistry in the identification of renal cell carcinoma in diagnostic cytology.
GeneRIF
Roh et al., Ann Arbor, United States. In Diagn Cytopathol, 2012
PAX8 and PAX2 are diagnostically useful adjuncts in confirming the diagnosis of renal cell carcinoma in cytology specimens.
Pair-Box (PAX8) protein-positive expression is associated with poor disease outcome in women with endometrial cancer.
GeneRIF
Lele et al., Buffalo, United States. In Br J Cancer, 2012
A positive association of Pax8(+) expression was found with high tumour grade (P=0.002), LVI+(P=0.0186), and type II tumour subtype (P<0.0001) in univariate analysis.
Value of Islet 1 and PAX8 in identifying metastatic neuroendocrine tumors of pancreatic origin.
GeneRIF
Dhall et al., Los Angeles, United States. In Mod Pathol, 2012
Both Islet 1 and PAX8 are reliable immunohistochemical markers for identifying metastatic neuroendocrine tumors of pancreatic origin.
Genome-wide analysis of Pax8 binding provides new insights into thyroid functions.
GeneRIF
Santisteban et al., Madrid, Spain. In Bmc Genomics, 2011
Distal regulation by Pax8 is supported by the interaction with chromatin remodeling factors such as CTCF and Sp1.
PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma [corrected].
Impact
Fletcher et al., Boston, United States. In Science, 2000
Here, we report that t(2;3)(q13;p25), a translocation identified in a subset of human thyroid follicular carcinomas, results in fusion of the DNA binding domains of the thyroid transcription factor PAX8 to domains A to F of the peroxisome proliferator-activated receptor (PPAR) gamma1.
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.
Impact
Di Lauro et al., Napoli, Italy. In Nat Genet, 1998
We report mutations in the coding region of PAX8 in two sporadic patients and one familial case of TD.
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