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PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans

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dc.contributor.authorGÜRAN, TÜLAY
dc.contributor.authorYEŞİL, GÖZDE
dc.contributor.authorTuran, Serap
dc.contributor.authorAtay, Zeynep
dc.contributor.authorBOZKURTLAR, EMİNE
dc.contributor.authorAghayev, AghaRza
dc.contributor.authorGul, Sinem
dc.contributor.authorTİNAY, İLKER
dc.contributor.authorAru, Basak
dc.contributor.authorArslan, Sema
dc.contributor.authorKoroglu, M. Kutay
dc.contributor.authorErcan, Feriha
dc.contributor.authorDemirel, Gulderen Y.
dc.contributor.authorEren, Funda S.
dc.contributor.authorKarademir, Betul
dc.contributor.authorBereket, Abdullah
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-11-17T23:42:26Z
dc.date.available2019-11-17T23:42:26Z
dc.date.issued2019-05-01
dc.description.abstractContext: Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B - gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of most mammalian cell types. PPP2R3C gene is most abundantly expressed in testis in humans, while its function was hitherto unknown.
dc.identifier.citationGÜRAN T., YEŞİL G., Turan S., Atay Z., BOZKURTLAR E., Aghayev A., Gul S., TİNAY İ., Aru B., Arslan S., et al., -PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans-, EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.180, ss.291-309, 2019
dc.identifier.pubmed30893644
dc.identifier.urihttps://hdl.handle.net/20.500.12645/10374
dc.language.isoen
dc.titlePPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans
dc.typeArticle
dspace.entity.typePublication
local.avesis.id6bded598-e322-405c-9ddf-1eed1a1f471f
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relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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