dc.contributor.author | Ünverengil, Gökçen | |
dc.contributor.author | Bauer, Peter | |
dc.contributor.author | Ayaz, Akif | |
dc.contributor.author | Calvo, Maria | |
dc.contributor.author | Yüksel, Zafer | |
dc.contributor.author | Marais, Anett | |
dc.contributor.author | Bertoli-Avella, Aida M. | |
dc.contributor.author | Beetz, Christian | |
dc.contributor.author | Altunoglu, Umut | |
dc.contributor.author | Alhashem, Amal | |
dc.contributor.author | Mohamed, Sarar | |
dc.contributor.author | Alghamdi, Abdulaziz | |
dc.contributor.author | Willems, Patrick | |
dc.contributor.author | Tsoutsou, Eirini | |
dc.contributor.author | Fryssira, Helena | |
dc.contributor.author | Pons, Roser | |
dc.contributor.author | Almarzooq, Reem | |
dc.contributor.author | Karatoprak, Elif Yüksel | |
dc.date.accessioned | 2023-02-21T09:18:18Z | |
dc.date.available | 2023-02-21T09:18:18Z | |
dc.date.issued | 2022 | |
dc.identifier.citation | Marais A., Bertoli-Avella A. M., Beetz C., Altunoglu U., Alhashem A., Mohamed S., Alghamdi A., Willems P., Tsoutsou E., Fryssira H., et al., "Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease", European Journal of Medical Genetics, cilt.65, sa.8, 2022 | |
dc.identifier.issn | 1769-7212 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_2be3b2ec-186b-4fd9-a58c-3d67e9c6fc9d | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/187364 | |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85132335769&origin=inward | |
dc.identifier.uri | https://doi.org/10.1016/j.ejmg.2022.104537 | |
dc.description.abstract | © 2022 Elsevier Masson SASTranscriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with congenital bone fractures, hypotonia, and muscular dystrophy in a total of 22 unrelated families. Upon exome sequencing and data repository mining, we identified six new patients with pathogenic homozygous variants in either TRIP4 (n = 4, two novel variants) or ASCC1 (n = 2, one novel variant). The associated clinical findings confirm and extend previous descriptions. Considering all patients reported to date, we provide supporting evidence suggesting that ASCC1-related disease has a more severe phenotype compared to TRIP4-related disorder regarding higher incidence of perinatal bone fractures and shorter survival. | |
dc.language.iso | eng | |
dc.subject | Genetik | |
dc.subject | Genetik (klinik) | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Temel Bilimler | |
dc.subject | Tıp | |
dc.subject | GENETİK VE KALITIM | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Dahili Tıp Bilimleri | |
dc.title | Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease | |
dc.type | Makale | |
dc.relation.journal | European Journal of Medical Genetics | |
dc.contributor.department | Centogene AG , , | |
dc.identifier.volume | 65 | |
dc.identifier.issue | 8 | |
dc.contributor.firstauthorID | 4128032 | |