6 results on '"Nina V. Fuchs"'
Search Results
2. Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A)
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Nina V. Fuchs, Christiane Tondera, Michaela Neuenkirch, Maximilian Schieck, David Germanaud, Doris Steinemann, Vincent des Portes, Gudrun Göhring, Heike Schmitz, and Renate König
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0301 basic medicine ,Male ,Microcephaly ,Induced Pluripotent Stem Cells ,Locus (genetics) ,Biology ,Cell Line ,03 medical and health sciences ,0302 clinical medicine ,Intellectual disability ,medicine ,Humans ,Induced pluripotent stem cell ,lcsh:QH301-705.5 ,Sequence Deletion ,Genetics ,Renpenning syndrome ,Base Sequence ,Binding protein ,Cerebral Palsy ,Cell Biology ,General Medicine ,Polyglutamine tract ,medicine.disease ,DNA-Binding Proteins ,030104 developmental biology ,lcsh:Biology (General) ,Cell culture ,Mental Retardation, X-Linked ,030217 neurology & neurosurgery ,Developmental Biology - Abstract
The Renpenning syndrome spectrum is a rare X-linked mental retardation syndrome characterized by intellectual disability, microcephaly, low stature, lean body and hypogonadism. Mutations in the polyglutamine tract binding protein 1 (PQBP1) locus are causative for disease. Here, we describe the generation of an iPSC line from a patient mutated in the polar amino acid-rich domain of PQBP1 resulting in a C-terminal truncated protein (c.459_462 delAGAG, type p.R153fs193X).
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- 2019
3. Induced pluripotent stem cell line (PEIi003-A) derived from an apparently healthy male individual
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Michaela Neuenkirch, Renate König, Gudrun Göhring, Heike Schmitz, Nina V. Fuchs, Doris Steinemann, Christiane Tondera, and Maximilian Schieck
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Male ,0301 basic medicine ,Somatic cell ,Induced Pluripotent Stem Cells ,Germ layer ,Biology ,03 medical and health sciences ,0302 clinical medicine ,Animals ,Humans ,Induced pluripotent stem cell ,lcsh:QH301-705.5 ,Cell Differentiation ,Male individual ,Karyotype ,Cell Biology ,General Medicine ,Healthy Volunteers ,In vitro ,Cell biology ,030104 developmental biology ,lcsh:Biology (General) ,Line (text file) ,Reprogramming ,030217 neurology & neurosurgery ,Developmental Biology - Abstract
Induced pluripotent stem cells (iPSCs) are a useful tool to investigate pathomechanistic and cellular processes due to their differentiation potential into different somatic cell types in vitro. Here, we have generated iPSCs from an apparently healthy male individual using an integration-free reprogramming method. The resulting iPSCs are pluripotent and display a normal karyotype. Furthermore, we demonstrate that this iPSC line can be differentiated into all three germ layers. Keywords: Induced pluripotent stem cells from an apparently healthy individual, Induced Pluripotent stem cells capable of differentiation into all three germ layers
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- 2020
4. Reprogramming triggers endogenous L1 and Alu retrotransposition in human induced pluripotent stem cells
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Gerald G. Schumann, Zoltán Ivics, Marta García-Cañadas, Ulrike Held, Zsuzsanna Izsvák, Anett Witthuhn, Ruchi Shukla, Ernst J. Wolvetang, Daniel J. Gerhardt, Balázs Sarkadi, J. Andres Pulgarin, Johannes Löwer, Sabine Klawitter, Jose L. Garcia-Perez, Alexandra Haase, Ulrich Martin, Sylvia Merkert, Martin Muñoz-Lopez, Attila Sebe, Anja Bock, Ivana Grabundzija, Kyle R. Upton, Jichang Wang, Patricia Gerdes, Cesar Lopez-Ruiz, Nina V. Fuchs, and Geoffrey J. Faulkner
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0301 basic medicine ,endocrine system ,Retroelements ,Science ,Induced Pluripotent Stem Cells ,Vesicular Transport Proteins ,General Physics and Astronomy ,Alu element ,Retrotransposon ,Germ layer ,Minisatellite Repeats ,Biology ,General Biochemistry, Genetics and Molecular Biology ,Article ,Cell Line ,Epigenesis, Genetic ,03 medical and health sciences ,Alu Elements ,Humans ,Cellular Reprogramming Techniques ,Epigenetics ,Induced pluripotent stem cell ,Author Correction ,Embryonic Stem Cells ,Cell Proliferation ,Genetics ,Multidisciplinary ,Calcium-Binding Proteins ,General Chemistry ,Cellular Reprogramming ,Embryonic stem cell ,Cell biology ,030104 developmental biology ,Long Interspersed Nucleotide Elements ,Cardiovascular and Metabolic Diseases ,Reprogramming - Abstract
Human induced pluripotent stem cells (hiPSCs) are capable of unlimited proliferation and can differentiate in vitro to generate derivatives of the three primary germ layers. Genetic and epigenetic abnormalities have been reported by Wissing and colleagues to occur during hiPSC derivation, including mobilization of engineered LINE-1 (L1) retrotransposons. However, incidence and functional impact of endogenous retrotransposition in hiPSCs are yet to be established. Here we apply retrotransposon capture sequencing to eight hiPSC lines and three human embryonic stem cell (hESC) lines, revealing endogenous L1, Alu and SINE-VNTR-Alu (SVA) mobilization during reprogramming and pluripotent stem cell cultivation. Surprisingly, 4/7 de novo L1 insertions are full length and 6/11 retrotransposition events occurred in protein-coding genes expressed in pluripotent stem cells. We further demonstrate that an intronic L1 insertion in the CADPS2 gene is acquired during hiPSC cultivation and disrupts CADPS2 expression. These experiments elucidate endogenous retrotransposition, and its potential consequences, in hiPSCs and hESCs., Genetic and epigenetic abnormalities have been found to result from reprogramming of differentiated cells into human induced pluripotent stem cells (hiPSCs). Here, Klawitter et al. identify endogenous L1, Alu and SVA mobilization during reprogramming, highlighting the risk of insertional mutagens in hiPSCs.
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- 2015
5. Primate-specific endogenous retrovirus-driven transcription defines naive-like stem cells
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Tamás Raskó, Jichang Wang, Avazeh T. Ghanbarian, Gerald G. Schumann, Huiqiang Cai, Gangcai Xie, Zoltán Ivics, Zsuzsanna Izsvák, Matthew C. Lorincz, Wei Chen, Laurence D. Hurst, Manvendra K. Singh, Nina V. Fuchs, Daniel Besser, Alessandro Prigione, and Attila Szvetnik
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Genetic Markers ,Homeobox protein NANOG ,Rex1 ,Induced Pluripotent Stem Cells ,Endogenous retrovirus ,Biology ,Stem cell marker ,03 medical and health sciences ,0302 clinical medicine ,Humans ,Induced pluripotent stem cell ,Cells, Cultured ,Embryonic Stem Cells ,030304 developmental biology ,Genetics ,0303 health sciences ,Multidisciplinary ,Gene Expression Profiling ,Endogenous Retroviruses ,Embryonic stem cell ,Cell biology ,Endothelial stem cell ,DNA Transposable Elements ,RNA, Long Noncoding ,Stem cell ,030217 neurology & neurosurgery ,Transcription Factors - Abstract
Naive embryonic stem cells hold great promise for research and therapeutics as they have broad and robust developmental potential. While such cells are readily derived from mouse blastocysts it has not been possible to isolate human equivalents easily1, 2, although human naive-like cells have been artificially generated (rather than extracted) by coercion of human primed embryonic stem cells by modifying culture conditions2, 3, 4 or through transgenic modification5. Here we show that a sub-population within cultures of human embryonic stem cells (hESCs) and induced pluripotent stem cells (hiPSCs) manifests key properties of naive state cells. These naive-like cells can be genetically tagged, and are associated with elevated transcription of HERVH, a primate-specific endogenous retrovirus. HERVH elements provide functional binding sites for a combination of naive pluripotency transcription factors, including LBP9, recently recognized as relevant to naivety in mice6. LBP9–HERVH drives hESC-specific alternative and chimaeric transcripts, including pluripotency-modulating long non-coding RNAs. Disruption of LBP9, HERVH and HERVH-derived transcripts compromises self-renewal. These observations define HERVH expression as a hallmark of naive-like hESCs, and establish novel primate-specific transcriptional circuitry regulating pluripotency.
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- 2014
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6. Human endogenous retrovirus K (HML-2) RNA and protein expression is a marker for human embryonic and induced pluripotent stem cells
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Roswitha Löwer, Sabine Loewer, Zsuzsanna Izsvák, George Q. Daley, Nina V. Fuchs, and Johannes Löwer
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KOSR ,viruses ,Blotting, Western ,Induced Pluripotent Stem Cells ,Short Report ,Embryoid body ,Biology ,Viral Proteins ,Pluripotency marker ,Virology ,Humans ,Embryoid body differentiation ,Induced pluripotent stem cell ,Messenger RNA ,Reverse Transcriptase Polymerase Chain Reaction ,Endogenous Retroviruses ,RNA ,Embryonic stem cell ,Molecular biology ,Activation of human endogenous retrovirus K proviruses ,Endothelial stem cell ,Infectious Diseases ,Cardiovascular and Metabolic Diseases ,embryonic structures ,RNA, Viral ,Virus Activation ,Human embryonic stem cells ,Stem cell ,Biomarkers - Abstract
BACKGROUND: Malignant human embryonal carcinoma cells (ECC) rely on similar transcriptional networks as non-malignant embryonic stem cells (ESC) to control selfrenewal, maintain pluripotency; and inhibit differentiation. Because re-activation of silenced HERV-K(HML-2) loci is a hallmark of ECCs, we asked if this HERV group was also reactivated in ESCs and induced pluripotent stem cells (iPSCs). FINDINGS: Using RTPCR and Western Blot, we demonstrate HERV-K(HML-2) RNA and protein expression in undifferentiated human ESCs and iPSCs. Induction of differentiation by embryoid body formation resulted in rapid silencing of HERV-K(HML-2) provirus expression. Sequencing analysis of a conserved region of the gag gene showed that proviral expression in undifferentiated cells represents at least 11 of the 66 nearly full length HERV-K(HML-2) loci, with slightly varying patterns in individual cell lines. These proviruses are human specific integrations and harbor promoter competent long terminal repeats (LTR5hs subgroup). We observed high mRNA levels of the NP9 and Gag encoding proviruses K101(chromosome 22q11.21) in all and K10(5q33.3) in most of the ECC, ESC, and iPSC lines tested, while K37(11q23.3) mRNA was detected only in ESCs and iPSCs. In addition, we detected expression of proviral mRNA encoding the RNA export adaptor Rec in all cell lines studied. Proviral mRNA originating from the K108(7p22.1) locus, which inter alia codes for functional Rec and Env proteins, was only reactivated in malignant ECC lines, not in benign ESCs or iPSC. CONCLUSIONS: HERV-K(HML-2) RNA and protein expression is a marker for pluripotent human stem cells. Initiation of differentiation results in rapid down-regulation. Further studies are needed to explore a putative functional role of HERV-K(HML-2) RNA and proteins in pluripotent stem cells.
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