Accès ouvert
2026
article
OpenAlex
Kyriaki Papaioannou, Regina Kubica, Karen Fischhuber, Jasmin Beygo et autres
BACKGROUND: MYCN amplification occurs in a subset of retinoblastoma cases, both with and without RB1 inactivation. It has been suggested that retinoblastomas with MYCN amplification represent a distinct entity with more aggressive clinical behavior. METHODS: We examined the incidence of MYCN gain/amplification …
de, at
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Accès ouvert
2026
article
OpenAlex
Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy et autres
The role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While NIPBL variants are a major cause of Cornelia de Lange Syndrome (CdLS), the role of MAU2 in disease is unclear. We describe 18 individuals carrying 15 …
de, es, ca, us, sa, fr, br, ae, gb, jp, nl
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Accès ouvert
2025
preprint
OpenAlex
Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador, Laura Duffy et autres
Abstract The role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While NIPBL variants are a major cause of Cornelia de Lange Syndrome (CdLS), the role of MAU2 in disease is unclear. We describe 18 individuals carrying …
de, es, ca, us, sa, fr, br, ae, gb, jp, nl
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Accès ouvert
2024
article
OpenAlex
Emily Alefeld, André Haase, Dario Van Meenen, Bettina Budeus et autres
Retinoblastoma (RB) is an intraocular tumor arising from retinal cone progenitor cells affecting young children. In the last couple of years, RB treatment evolved towards eye preserving therapies. Therefore, investigating intratumoral differences and the RB tumor microenvironment (TME), regulating tumorigenesis and metastasis, …
de
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Accès ouvert
2024
erratum
OpenAlex
Tatsiana Ryl, Elena Afanasyeva, Till Hartmann, Melanie Schwermer et autres
In this article, the author name Hanenberg was incorrectly written as Hannenberg. The original article has been corrected.
de
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Accès ouvert
2024
article
OpenAlex
Tatsiana Ryl, Elena Afanasyeva, Till Hartmann, Melanie Schwermer et autres
Retinoblastoma are childhood eye tumors arising from retinal precursor cells. Two distinct retinoblastoma subtypes with different clinical behavior have been described based on gene expression and methylation profiling. Using consensus clustering of DNA methylation analysis from 61 retinoblastomas, we identify a MYCN-driven …
de
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2022
article
OpenAlex
Luisa Sophie Rajcsanyi, Inga Diebels, Lydia Pastoors, Deniz Kanber et autres
Einleitung Zirkuläre RNAs (circRNAs) regulieren zelluläre Prozesse, wie die Adipogenese. Ihre Expression kann durch Einzelnukleotid-Polymorphismen (SNPs) moduliert werden. Bislang sind mittels genomweiter Assoziationsstudien (GWAS) über 1000 genetische Loci identifiziert worden, die die Varianz des BMIs regulieren. Methoden (1) Abgleich von genomweit signifikanten …
de
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Accès ouvert
2022
article
OpenAlex
Luisa Sophie Rajcsanyi, Inga Diebels, Lydia Pastoors, Deniz Kanber et autres
Circular RNAs (circRNAs) are regulators of processes like adipogenesis. Their expression can be modulated by SNPs. We analysed links between BMI-associated SNPs and circRNAs. First, we detected an enrichment of BMI-associated SNPs on circRNA genomic loci in comparison to non-significant variants. Analysis …
de
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Accès ouvert
2022
dataset
OpenAlex
Luisa Sophie Rajcsanyi, Inga Diebels, Lydia Pastoors, Deniz Kanber et autres
The datasets provided here are part of the study "Evidence for Correlations Between BMI-Associated SNPs and circRNAs" by Rajcsanyi et al. Abstract of the study: Circular RNAs (circRNAs) are regulators of processes like adipogenesis. Their expression can be modulated by SNPs. We …
de
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Accès ouvert
2022
dataset
OpenAlex
Luisa Sophie Rajcsanyi, Inga Diebels, Lydia Pastoors, Deniz Kanber et autres
The datasets provided here are part of the study "Evidence for Correlations Between BMI-Associated SNPs and circRNAs" by Rajcsanyi et al. Abstract of the study: Circular RNAs (circRNAs) are regulators of processes like adipogenesis. Their expression can be modulated by SNPs. We …
de
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Accès ouvert
2022
conference-abstract
OpenAlex
Anike Pohlmann, Teresa Gerling, Carolin Walter, Viktoria Melcher et autres
Abstract BACKGROUND: Treatment-related long-term sequelae and chemotherapy resistance diminish the success of retinoblastoma (RB) treatment. To unravel the mechanisms leading to tumor progression and resistance we examined the intratumoral cellular heterogeneity of RB and its interactions with cells of the tumor microenvironment …
de
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Accès ouvert
2022
article
OpenAlex
Deniz Kanber, Julia Woestefeld, Hannah Döpper, Morgane Bozet et autres
Retinoblastoma is a tumor of the eye in children under the age of five caused by biallelic inactivation of the RB1 tumor suppressor gene in maturing retinal cells. Cancer models are essential for understanding tumor development and in preclinical research. Because of …
de
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