Search Results - "Mau, Ulrike A."

Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects by Cox, Gerald F., Bürger, Joachim, Lip, Va, Mau, Ulrike A., Sperling, Karl, Wu, Bai-Lin, Horsthemke, Bernhard

“…In germ cells and the early embryo, the mammalian genome undergoes widespread epigenetic reprogramming. Animal studies suggest that this process is vulnerable…”
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Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation by Haag, Carolin, Uysal, Betül, Marquetand, Justus, Löffler, Heidi, Mau-Holzmann, Ulrike A., Lerche, Holger, Schwarz, Niklas

“…The STX1B gene encodes the presynaptic protein syntaxin-1B, which plays a major role in regulating fusion of synaptic vesicles. Mutations in STX1B are known to…”
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Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271 by Marthaler, Adele G., Schmid, Benjamin, Tubsuwan, Alisa, Poulsen, Ulla B., Engelbrecht, Alexander F., Mau-Holzmann, Ulrike A., Hyttel, Poul, Nielsen, Jørgen E., Nielsen, Troels T., Holst, Bjørn

“…Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease primarily affecting the cerebellum. Very little is known about the molecular mechanisms…”
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Generation of two gene edited iPSC-lines carrying a DOX-inducible NGN2 expression cassette with and without GFP in the AAVS1 locus by Schmid, Benjamin, Holst, Bjørn, Poulsen, Ulla, Jørring, Ida, Clausen, Christian, Rasmussen, M., Mau-Holzmann, Ulrike A., Steeg, Rachel, Nuthall, Hugh, Ebneth, A., Cabrera-Socorro, A.

“…Neurog2 is the gene encoding the neuronal transcription factor NGN2, which can convert stem cells into functional neurons in a fast and efficient way. Here we…”
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Reduced cell size, chromosomal aberration and altered proliferation rates are characteristics and confounding factors in the STHdh cell model of Huntington disease by Singer, Elisabeth, Walter, Carolin, Weber, Jonasz J., Krahl, Ann-Christin, Mau-Holzmann, Ulrike A., Rischert, Nadine, Riess, Olaf, Clemensson, Laura E., Nguyen, Huu P.

“…Huntington disease is a fatal neurodegenerative disorder caused by a CAG repeat expansion in the gene encoding the huntingtin protein. Expression of the mutant…”
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Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene by Frederiksen, Henriette R., Holst, Bjørn, Mau-Holzmann, Ulrike A., Freude, Kristine, Schmid, Benjamin

“…Alzheimer's disease (AD) is the most common form of dementia. Mutations in the gene PSEN1 encoding Presenilin1 are known to cause familial forms of AD with…”
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Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation by Schwarz, Niklas, Uysal, Betül, Rosa, Filip, Löffler, Heidi, Mau-Holzmann, Ulrike A., Liebau, Stefan, Lerche, Holger

“…Developmental and epileptic encephalopathies (DEE) can be caused by mutations in the KCNA2 gene, coding for the voltage-gated K+ channel Kv1.2. This ion…”
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The impact of an audience response system on a summative assessment, a controlled field study by Schmidt, Thorsten, Gazou, Anastasia, Rieß, Angelika, Rieß, Olaf, Grundmann-Hauser, Kathrin, Falb, Ruth, Schadeck, Malou, Heinrich, Tilman, Abeditashi, Mahkameh, Schmidt, Jana, Mau-Holzmann, Ulrike A, Schnabel, Kai P

“…Audience response systems allow to activate the audience and to receive a direct feedback of participants during lectures. Modern systems do not require any…”
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Generation of a set of isogenic, gene-edited iPSC lines homozygous for all main APOE variants and an APOE knock-out line by Schmid, Benjamin, Prehn, Kennie R., Nimsanor, Natakarn, Garcia, Blanca Irene Aldana, Poulsen, Ulla, Jørring, Ida, Rasmussen, Mikkel A., Clausen, Christian, Mau-Holzmann, Ulrike A., Ramakrishna, Sarayu, Muddashetty, Ravi, Steeg, Rachel, Bruce, Kevin, Mackintosh, Peter, Ebneth, Andreas, Holst, Bjørn, Cabrera-Socorro, Alfredo

“…Alzheimer's disease (AD) is the most frequent neurodegenerative disease amongst the elderly. The SNPs rs429358 and rs7412 in the APOE gene are the most common…”
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Generation and characterization of human induced pluripotent stem cells lines from four patients diagnosed with schizophrenia and one healthy control by Stock, Ricarda, Vogel, Sabrina, Mau-Holzmann, Ulrike A., Kriebel, Martin, Wüst, Richard, Fallgatter, Andreas J., Volkmer, Hansjürgen

“…Fibroblasts were isolated from skin biopsies of four patients diagnosed with schizophrenia and from one healthy control. Patient fibroblasts were transfected…”
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Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation by Schwarz, Niklas, Uysal, Betül, Rosa, Filip, Löffler, Heidi, Mau-Holzmann, Ulrike A., Liebau, Stefan, Lerche, Holger

“…Mutations in the KCNA2 gene, coding for the voltage-gated K+ channel Kv1.2, can cause developmental and epileptic encephalopathies. Kv1.2 channels play an…”
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Corrigendum to “Generation of a set of isogenic, gene-edited iPSC lines homozygous for all main APOE variants and an APOE knock-out line” [Stem Cell Res. 34/1873–5061 (2019) 101349–55] by Schmid, Benjamin, Prehn, Kennie R., Nimsanor, Natakarn, Garcia, Blanca Irene Aldana, Poulsen, Ulla, Jørring, Ida, Rasmussen, Mikkel A., Clausen, Christian, Mau-Holzmann, Ulrike A., Ramakrishna, Sarayu, Muddashetty, Ravi, Steeg, Rachel, Bruce, Kevin, Mackintosh, Peter, Ebneth, Andreas, Holst, Bjørn, Cabrera-Socorro, Alfredo

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Characterisation of the cell line HC-AFW1 derived from a pediatric hepatocellular carcinoma by Armeanu-Ebinger, Sorin, Wenz, Julia, Seitz, Guido, Leuschner, Ivo, Handgretinger, Rupert, Mau-Holzmann, Ulrike A, Bonin, Michael, Sipos, Bence, Fuchs, Jörg, Warmann, Steven W

“…Current treatment of paediatric hepatocellular carcinoma (HCC) is often inefficient due to advanced disease at diagnosis and resistance to common drugs. The…”
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Amniotic bands as a cause of congenital anterior staphyloma by Schramm, Charlotte, Rohrbach, Jens M., Reinert, Siegmar, Mau-Holzmann, Ulrike A., Aisenbrey, Sabine, Bartz-Schmidt, Karl-Ulrich, Besch, Dorothea

“…Background Congenital anterior staphyloma is a rare, complex malformation syndrome of the anterior segment. Only a few reports on associated systemic…”
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Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266 by Marthaler, Adele G., Tubsuwan, Alisa, Schmid, Benjamin, Poulsen, Ulla B., Engelbrecht, Alexander F., Mau-Holzmann, Ulrike A., Hyttel, Poul, Nielsen, Troels T., Nielsen, Jørgen E., Holst, Bjørn

“…Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease primarily affecting the cerebellum. Very little is known about the molecular mechanisms…”
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Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15) by Eggermann, Thomas, Spengler, Sabrina, Bachmann, Nadine, Baudis, Michael, Mau-Holzmann, Ulrike A., Singer, Sylke, Rossier, Eva

“…The role of 11p15 disturbances in the aetiology of Silver‐Russell syndrome (SRS) is well established: in addition to hypomethylation of the H19/IGF2…”
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Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H196 by Marthaler, Adele G., Schmid, Benjamin, Tubsuwan, Alisa, Poulsen, Ulla B., Engelbrecht, Alexander F., Mau-Holzmann, Ulrike A., Hyttel, Poul, Nielsen, Jørgen E., Nielsen, Troels T., Holst, Bjørn

“…Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease primarily affecting the cerebellum. Very little is known about the molecular mechanisms…”
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Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients by Schroeder, Christopher, Faust, Ulrike, Krauße, Luisa, Liebmann, Alexandra, Abele, Michael, Demidov, German, Schütz, Leon, Kelemen, Olga, Pohle, Alexandra, Gauß, Silja, Sturm, Marc, Roggia, Cristiana, Streiter, Monika, Buchert, Rebecca, Armenau-Ebinger, Sorin, Nann, Dominik, Beschorner, Rudi, Handgretinger, Rupert, Ebinger, Martin, Lang, Peter, Holzer, Ursula, Skokowa, Julia, Ossowski, Stephan, Haack, Tobias B, Mau-Holzmann, Ulrike A, Dufke, Andreas, Riess, Olaf, Brecht, Ines B

“…The prevalence of pathogenic and likely pathogenic (P/LP) variants in genes associated with cancer predisposition syndromes (CPS) is estimated to be 8-18% for…”
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Discordance between ultrasound and cell free DNA screening for monosomy X by Kagan, Karl Oliver, Hoopmann, Markus, Singer, Sylke, Schaeferhoff, Karin, Dufke, Andreas, Mau-Holzmann, Ulrike A.

“…Objective Cell free DNA (cfDNA) testing has evolved as an important tool in prenatal screening for trisomy 21. It can also be used in screening for monosomy X…”
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A mouse bone marrow stromal cell line with skeletal stem cell characteristics to study osteogenesis in vitro and in vivo by Raeth, Sebastian, Sacchetti, Benedetto, Siegel, Georg, Mau-Holzmann, Ulrike A, Hansmann, Jan, Vacun, Gabriele, Hauk, Thomas G, Pfizenmaier, Klaus, Hausser, Angelika

“…Bone marrow stromal cells (BMSCs) are composed of progenitor and multipotent skeletal stem cells, which are able to differentiate in vitro into osteocytes,…”
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