Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer [PDF]
Abstract Common genetic variation throughout the genome and rare coding variants identified to date explain about half of the inherited genetic component of epithelial ovarian cancer risk. It is likely that rare variation in the noncoding genome will explain some of the unexplained heritability, but identifying such variants is ...
Simon Gayther +2 more
exaly +4 more sources
The transcription factor PAX8 promotes angiogenesis in ovarian cancer through interaction with SOX17 [PDF]
PAX8 is a master transcription factor that is essential during embryogenesis and promotes neoplastic growth. It is expressed by the secretory cells lining the female reproductive tract, and its deletion during development results in atresia of reproductive tract organs.
Chaves-Moreira D +2 more
exaly +4 more sources
SOX17/PAX8 dual immunohistochemical expression in the diagnosis of Müllerian carcinomas [PDF]
Background Metastatic Müllerian carcinomas, including endometrial and ovarian adenocarcinomas, are challenging to diagnose due to factors like similar malignancies, insufficient clinical history, multiorgan dissemination, and small tumor specimens ...
Manar Moustafa +2 more
doaj +2 more sources
Thyroid Transcription Factor 1 Rescues PAX8/p300 Synergism Impaired by a Natural PAX8 Paired Domain Mutation with Dominant Negative Activity [PDF]
AbstractMutations in the paired domain transcription factor PAX8 are a rare cause of congenital hypothyroidism due to thyroid dysgenesis. We identified a novel and unique PAX8 mutation segregating in seven affected members of a three-generations family.
Samuel Refetoff +2 more
exaly +4 more sources
Pax8 and Pax2a function synergistically in otic specification, downstream of the Foxi1 and Dlx3b transcription factors [PDF]
The vertebrate inner ear arises from an ectodermal thickening, the otic placode, that forms adjacent to the presumptive hindbrain. Previous studies have suggested that competent ectodermal cells respond to Fgf signals from adjacent tissues and express two highly related paired box transcription factors Pax2a and Pax8 in the developing placode.
Stefan Hans +2 more
exaly +3 more sources
ASPSCR1: TFE3 Fusion‐Positive Epithelioid Angiomyolipoma/PEComa Lacking Melanocytic Markers: A Case Report [PDF]
Introduction Epithelioid angiomyolipoma is a rare perivascular epithelioid cell tumor subtype with malignant potential. Its morphology mimics renal cell carcinoma, posing diagnostic challenges.
Yuka Kondo +8 more
doaj +2 more sources
AbstractThe morphological and biochemical phenotype ofSome 48 children (37 girls and 11 boys) with CH associated with thyroid ectopy (n=22), agenesis (n=10), hypoplasia (n=6), or thyroid dysgenesis of unknown cause (n=10) were enrolled. The study participants were born in south-eastern Poland in the years 1993–2012 and were selected for neonatal mass ...
Kumorowicz-Czoch, Małgorzata +3 more
exaly +5 more sources
Transcription factor PAX8, expressed during embryonic kidney development, has been previously detected in various kidney tumors. In order to investigate expression of PAX8 transcription factor in acute kidney injury (AKI) and chronic kidney diseases (CKD)
Maja Zivotic +9 more
doaj +1 more source
Neuropilin-2 Is a Newly Identified Target of PAX8 in Thyroid Cells. [PDF]
PAX8 is a transcription factor essential for thyroid gland development, as well as for the maintenance of the thyroid differentiated state in the adult.
Valeria Lucci +2 more
doaj +1 more source
Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis. [PDF]
The differentiation program of thyroid follicular cells (TFCs), by far the most abundant cell population of the thyroid gland, relies on the interplay between sequence-specific transcription factors and transcriptional coregulators with the basal ...
Tina Di Palma +5 more
doaj +1 more source

