Search Results - "Holzmann, A"

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 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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The use of transmigration and Spermac™ stain to evaluate epididymal cat spermatozoa by Schäfer, S., Holzmann, A.

“…Epididymal spermatozoa of domestic cats were diluted with TEST medium and frozen. The parameters — estimated percentage of motile spermatozoa, concentration of…”
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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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Identification of MicroRNA 628-5p as a Novel Biomarker for Cardiac Allograft Vasculopathy (CAV) by Neumann, A, Kleeberger, J, Benecke, N, Holzmann, A, Haverich, A, Thum, T, Bara, C

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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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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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Somatic chromosomal abnormalities in infertile men and women by Mau-Holzmann, U A

“…Infertility--the inability to achieve conception or sustain a pregnancy through to live birth--is very common and affects about 15% of couples. While…”
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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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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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Colour-coded duplex sonography of the testes of dogs by Gumbsch, P., Holzmann, A., Gabler, C.

“…Colour.coded duplex sonography was used to examine the testes of 42 dogs whose testes were normal on clinical examination. With colour Doppler, the blood flow…”
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Increased frequency of severe major anomalies in children conceived by intracytoplasmic sperm injection by Sanchez‐Albisua, I, Borell‐Kost, S, Mau‐Holzmann, U A, Licht, P, Krägeloh‐Mann, I

“…The neurodevelopmental outcome of children born after intracytoplasmic sperm injection (ICSI) is controversial. We compared the medical and developmental…”
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Medical, psychological and intellectual development of 5-year-old children born after intracytoplasmic sperm injection by Sanchez-Albisua, I, Lidzba, K, Borell-Kost, S, Mau-Holzmann, U A, Licht, P, Krägeloh-Mann, I

“…The neurodevelopmental outcome of children born after intracytoplasmic sperm injection (ICSI) is controversial. Thus, we compared the medical and developmental…”
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