2002
DOI: 10.1016/s0925-4773(02)00145-4
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Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia

Abstract: Haploinsufficiency of SOX9, which encodes a homeodomain transcription factor, results in Campomelic dysplasia. Classical features of this disorder (e.g. skeletal dysplasia and 46,XY sex reversal) are in concordance with SOX9 expression profiles during human embryonic development. We report the robust expression of SOX9 throughout the pancreas during human embryogenesis, at levels of detection equivalent to the developing skeleton and testis. In the early foetal period, SOX9 expression declines and, in particul… Show more

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Cited by 90 publications
(89 citation statements)
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“…Similar expression patterns, as observed for Sox9, have been described for Nkx2.2 and Nkx6.1, which are crucial determinants of endocrine cell differentiation (Sussel et al, 1998;Sander et al, 2000). Expression of Sox9 has also been reported recently in the human pancreas (Piper et al, 2002). The main difference between our results and the study in humans is that the expression of Sox9 decreases in human islets during the second trimester.…”
Section: Resultscontrasting
confidence: 66%
See 1 more Smart Citation
“…Similar expression patterns, as observed for Sox9, have been described for Nkx2.2 and Nkx6.1, which are crucial determinants of endocrine cell differentiation (Sussel et al, 1998;Sander et al, 2000). Expression of Sox9 has also been reported recently in the human pancreas (Piper et al, 2002). The main difference between our results and the study in humans is that the expression of Sox9 decreases in human islets during the second trimester.…”
Section: Resultscontrasting
confidence: 66%
“…The main difference between our results and the study in humans is that the expression of Sox9 decreases in human islets during the second trimester. Of interest, the analysis of humans with haploinsufficiency for Sox9 revealed a functional role for Sox9 in islet cell development, as evidenced by defects in islet cell morphology, as well as reduced expression of markers for mature islet cells (Piper et al, 2002).…”
Section: Resultsmentioning
confidence: 99%
“…β-Catenin reactivity is diminished in endocrine structures. Scale bars, 50 μm latter have been implicated in human [22] and mouse development (Fig. 8a-c).…”
Section: Expression Of Genes For Mesenchymal Cellsmentioning
confidence: 98%
“…They also made links between Sox9 and the Notch effector Hes1 in maintenance of the progenitor cells. Human Sox9 haploinsufficiency causes abnormal acinar and endocrine pancreas formation (Piper et al, 2002). Studies by Lynn et al (2007) reported that Sox9 regulates the expression of a battery of TF genes in the primary pancreatic MPC such as Onecut1/HNF6, TCF2/HNF1b, and Foxa2, perhaps implicating it as one of the central coordinators of the transcriptional networks that define the pancreatic MPC condition.…”
Section: Sox9mentioning
confidence: 99%