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A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
TLDR
A search of a 35-kilobase region of the human Y chromosome necessary for male sex determination has resulted in the identification of a new gene, termed SRY (for sex-determining region Y) and proposed to be a candidate for the elusive testis-d determining gene, TDF.
Specific inhibition of Stat3 signal transduction by PIAS3.
TLDR
Results indicate that PIAS3 is a specific inhibitor of Stat3, a signal transducer and activator of transcription-3 (Stat3) protein activated by the interleukin 6 family of cytokines, epidermal growth factor, and leptin.
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
TLDR
The identification of human Sonic Hedgehog (SHH) as HPE3 — the first known gene to cause HPE is reported, and five families that segregate different heterozygous SHH mutations are found that predict premature termination of the SHH protein.
Direct Interaction of SRY-Related Protein SOX9 and Steroidogenic Factor 1 Regulates Transcription of the Human Anti-Müllerian Hormone Gene
TLDR
SOX9 is identified as an interaction partner of SF-1 that could be involved in the Sertoli cell-specific expression of AMH during embryogenesis and is proposed to be a combinatorial protein-protein and protein-DNA complex.
SOX9 is an intestine crypt transcription factor, is regulated by the Wnt pathway, and represses the CDX2 and MUC2 genes
TLDR
Evidence is provided that a bipartite β-catenin/TCF4 transcription factor, the effector of the Wnt signaling pathway, is required for SOX9 expression in epithelial cells, and this protein is expressed in the intestinal epithelium in a pattern characteristic of Wnt targets.
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
TLDR
A complete lack of NDN expression in P WS brain and f ibroblasts indicates that the gene is expressed exclusively from the paternal allele in these tissues and suggests a possible role of this new gene in PWS.
Genetic evidence equating SRY and the testis-determining factor
TLDR
The de novo mutation associated with sex reversal provides compelling evidence that SRY is required for male sex determination.
Prostaglandin D2 induces nuclear import of the sex‐determining factor SOX9 via its cAMP‐PKA phosphorylation
TLDR
A new step in the sex‐determining cascade is proposed where PGD2 acts as an autocrine factor inducing SOX9 nuclear translocation and subsequent Sertoli cell differentiation.
Expression and subcellular localization of SF‐1, SOX9, WT1, and AMH proteins during early human testicular development
TLDR
For the first time, the expression and subcellular localization of these factors by immunohistochemistry in the early human testis during embryogenesis compared with AMH expression are shown and reveal a new sexual dimorphism in SOX9 expression during the sex determination process.
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