dc.contributor.author | YANIKKAYA DEMİREL, GÜLDEREN | |
dc.contributor.author | BEREKET, ABDULLAH | |
dc.contributor.author | ERCAN, FERİHA | |
dc.contributor.author | Eren, Funda S. | |
dc.contributor.author | Karademir, Betul | |
dc.contributor.author | GÜRAN, TÜLAY | |
dc.contributor.author | YEŞİL, GÖZDE | |
dc.contributor.author | DEMİRCİOĞLU, SERAP | |
dc.contributor.author | Atay, Zeynep | |
dc.contributor.author | BOZKURTLAR, EMİNE | |
dc.contributor.author | Aghayev, AghaRza | |
dc.contributor.author | Gul, Sinem | |
dc.contributor.author | TİNAY, İLKER | |
dc.contributor.author | Aru, Basak | |
dc.contributor.author | Arslan, Sema | |
dc.contributor.author | Koroglu, M. Kutay | |
dc.date.accessioned | 2021-03-03T12:00:50Z | |
dc.date.available | 2021-03-03T12:00:50Z | |
dc.date.issued | 2019 | |
dc.identifier.citation | GÜRAN T., YEŞİL G., DEMİRCİOĞLU 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, sa.5, ss.291-309, 2019 | |
dc.identifier.issn | 0804-4643 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_2b5c9a54-69c6-4858-8e30-c1d018bcde00 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/33896 | |
dc.identifier.uri | https://doi.org/10.1530/eje-19-0067 | |
dc.description.abstract | Context: 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.language.iso | eng | |
dc.subject | Sağlık Bilimleri | |
dc.subject | İç Hastalıkları | |
dc.subject | Endokrinoloji ve Metabolizma Hastalıkları | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | ENDOKRİNOLOJİ VE METABOLİZMA | |
dc.title | PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans | |
dc.type | Makale | |
dc.relation.journal | EUROPEAN JOURNAL OF ENDOCRINOLOGY | |
dc.contributor.department | Marmara Üniversitesi , Tıp Fakültesi , Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı | |
dc.identifier.volume | 180 | |
dc.identifier.issue | 5 | |
dc.identifier.startpage | 291 | |
dc.identifier.endpage | 309 | |
dc.contributor.firstauthorID | 264154 | |