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X-linked dystonia-parkinsonism is a neurodegenerative disease, which is caused by a SVA retrotransposon insertion within TAF1, gene encoding an integral component of the basal transcription factor TFIID. The SVA insertion has been shown to induce defects both in biosynthesis and in alternative splic...
ORGANISM(S): Homo sapiens (Human) 
2020-05-26 | PXD009905 | Pride
In mitosis, the augmin complex binds to spindle microtubules to recruit the γ-tubulin ring complex (γ-TuRC), the principal microtubule nucleator, for the formation of branched microtubules. Our understanding of augmin-mediated microtubule branching is strongly hampered by the lack of structural info...
ORGANISM(S): Xenopus laevis (African clawed frog) 
2022-10-13 | PXD034895 | Pride
Female cystic fibrosis (CF) patients are confronted with fertility deficiency, experiencing difficulties in getting pregnant. Underlying reasons remain elusive. In particular, it has only poorly been studied whether the endometrium, the inner lining of the womb and crucial tissue for embryo implanta...
ORGANISM(S): Homo sapiens 

International differences in the incidence of many cancer types indicate the existence of carcinogen exposures that have not been identified by conventional epidemiology yet potentially make a substantial contribution to cancer burden1. This pertains to clear cell renal cell carcinoma (ccRCC), fo...

2024-03-26 | MTBLS9394 | MetaboLights
Female cystic fibrosis (CF) patients are confronted with fertility deficiency, experiencing difficulties in getting pregnant. Previous findings using CF mouse models indicate that CF negatively impacts female fertility in mice as it does in humans. Underlying reasons remain elusive. In particular, i...
ORGANISM(S): Mus musculus 

The purpose of this study is to discover genetic mutations in patients who have GnRH deficient states. This includes individuals with variant forms of hypogonadotropic hypogonadism, including individuals who have somatic anomalies involving mid-line facial defects, renal agenesis, synkinesia, and...

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