ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0017.6-6 | Differences/Disorders of Sex Development: Basic Research | ESPEYB17

6.6. CBX2-dependent transcriptional landscape: implications for human sex development and its defects

P Sproll , W Eid , A Biason-Lauber

To read the full abstract: Sci Rep. 2019, Nov 12; 9: 16552. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851130/pdf/41598_2019_Article_53006.pdfA complex network of genes contributes to (human) sex development. Among these, CBX2 is involved in the initial programming of the bipotential gonad to either the ovary or testis pathway. Ch...
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ey0016.6-5 | New Functions of (Old) Genes | ESPEYB16

6.5. Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

P Sproll , W Eid , CR Gomes , BB Mendonca , NL Gomes , EM Costa , A Biason-Lauber

Mol Genet Genomic Med. 2018 Sep;6(5):785–795.doi: 10.1002/mgg3.445. PubMed PMID: 29998616Chromobox protein homolog 2 (CBX2) has two isoforms, CBX2.1 and the shorter CBX2.2. CBX2.1 was previously shown to be essential for male gonadal development, when a mutation was identified in a girl with 46,XY DSD. CBX2.1 stimulates male-specific...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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