Search Results - "Ekici, Arif. B"

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability by Hoyer, Juliane, Ekici, Arif B., Endele, Sabine, Popp, Bernt, Zweier, Christiane, Wiesener, Antje, Wohlleber, Eva, Dufke, Andreas, Rossier, Eva, Petsch, Corinna, Zweier, Markus, Göhring, Ina, Zink, Alexander M., Rappold, Gudrun, Schröck, Evelin, Wieczorek, Dagmar, Riess, Olaf, Engels, Hartmut, Rauch, Anita, Reis, André

“…Intellectual disability (ID) is a clinically and genetically heterogeneous common condition that remains etiologically unresolved in the majority of cases…”
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature by Hauer, Nadine N., Sticht, Heinrich, Boppudi, Sangamitra, Büttner, Christian, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Wieczorek, Dagmar, Kelkel, Jaqueline, Jung, Anna-Maria, Uebe, Steffen, Ekici, Arif. B, Rohrer, Tilman, Reis, André, Dörr, Helmuth-Günther, Thiel, Christian T.

“…Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the…”
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De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability by Gregor, Anne, Oti, Martin, Kouwenhoven, Evelyn N., Hoyer, Juliane, Sticht, Heinrich, Ekici, Arif B., Kjaergaard, Susanne, Rauch, Anita, Stunnenberg, Hendrik G., Uebe, Steffen, Vasileiou, Georgia, Reis, André, Zhou, Huiqing, Zweier, Christiane

“…An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often…”
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Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans by Schlosser, Pascal, Li, Yong, Sekula, Peggy, Raffler, Johannes, Grundner-Culemann, Franziska, Pietzner, Maik, Cheng, Yurong, Wuttke, Matthias, Steinbrenner, Inga, Schultheiss, Ulla T., Kotsis, Fruzsina, Kacprowski, Tim, Forer, Lukas, Hausknecht, Birgit, Ekici, Arif B., Nauck, Matthias, Völker, Uwe, Walz, Gerd, Oefner, Peter J., Kronenberg, Florian, Mohney, Robert P., Köttgen, Michael, Suhre, Karsten, Eckardt, Kai-Uwe, Kastenmüller, Gabi, Köttgen, Anna

“…The kidneys integrate information from continuous systemic processes related to the absorption, distribution, metabolism and excretion (ADME) of metabolites…”
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A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency by Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E., Parboosingh, Jillian S., Bernier, Francois P., Abou Jamra, Rami

“…Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal…”
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Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling by Vasileiou, Georgia, Ekici, Arif B., Uebe, Steffen, Zweier, Christiane, Hoyer, Juliane, Engels, Hartmut, Behrens, Jürgen, Reis, André, Hadjihannas, Michel V.

“…The link of chromatin remodeling to both neurodevelopment and cancer has recently been highlighted by the identification of mutations affecting BAF…”
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Polyol Pathway Links Glucose Metabolism to the Aggressiveness of Cancer Cells by Schwab, Annemarie, Siddiqui, Aarif, Vazakidou, Maria Eleni, Napoli, Francesca, Böttcher, Martin, Menchicchi, Bianca, Raza, Umar, Saatci, Özge, Krebs, Angela M, Ferrazzi, Fulvia, Rapa, Ida, Dettmer-Wilde, Katja, Waldner, Maximilian J, Ekici, Arif B, Rasheed, Suhail Ahmed Kabeer, Mougiakakos, Dimitrios, Oefner, Peter J, Sahin, Ozgur, Volante, Marco, Greten, Florian R, Brabletz, Thomas, Ceppi, Paolo

“…Cancer cells alter their metabolism to support their malignant properties. In this study, we report that the glucose-transforming polyol pathway (PP) gene…”
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Single-cell RNA sequencing of adult mouse testes by Lukassen, Soeren, Bosch, Elisabeth, Ekici, Arif B., Winterpacht, Andreas

“…Spermatogenesis is an efficient and complex system of continuous cell differentiation. Previous studies investigating the transcriptomes of different cell…”
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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy by Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B, Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T, Popp, Bernt

“…The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main…”
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Reset of Inflammatory Priming of Joint Tissue and Reduction of the Severity of Arthritis Flares by Bromodomain Inhibition by Friščić, Jasna, Reinwald, Christiane, Böttcher, Martin, Houtman, Miranda, Euler, Maximilien, Chen, Xi, Walker, Kellie I., Kirchner, Philipp, Zhu, Honglin, Wirth, Benjamin, Weidner, Daniela, Krüger, René, Trajkovic, Vladimir, Ekici, Arif B., Klein, Kerstin, Mougiakakos, Dimitrios, Ospelt, Caroline, Schett, Georg, Hoffmann, Markus H.

“…Objective We have recently shown that priming of synovial fibroblasts (SFs) drives arthritis flares. Pathogenic priming of SFs is essentially mediated by…”
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MicroRNA profiles of prostate carcinoma detected by multiplatform microRNA screening by Wach, Sven, Nolte, Elke, Szczyrba, Jaroslaw, Stöhr, Robert, Hartmann, Arndt, Ørntoft, Torben, Dyrskjøt, Lars, Eltze, Elke, Wieland, Wolf, Keck, Bastian, Ekici, Arif B., Grässer, Friedrich, Wullich, Bernd

“…MicroRNAs (miRNAs) are small RNA molecules that regulate gene expression via posttranscriptional inhibition of protein synthesis. They play a vital role in…”
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Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients by Yazar, Volkan, Kühlwein, Julia K., Knehr, Antje, Grozdanov, Veselin, Ekici, Arif B., Ludolph, Albert C., Danzer, Karin M.

“…Epigenetic remodeling is emerging as a critical process for several neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). Genetics alone…”
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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila by Zweier, Christiane, de Jong, Eiko K., Zweier, Markus, Orrico, Alfredo, Ousager, Lilian B., Collins, Amanda L., Bijlsma, Emilia K., Oortveld, Merel A.W., Ekici, Arif B., Reis, André, Schenck, Annette, Rauch, Anita

“…Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated…”
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Th2 single-cell heterogeneity and clonal distribution at distant sites in helminth-infected mice by Radtke, Daniel, Thuma, Natalie, Schülein, Christine, Kirchner, Philipp, Ekici, Arif B, Schober, Kilian, Voehringer, David

“…Th2 cells provide effector functions in type 2 immune responses to helminths and allergens. Despite knowledge about molecular mechanisms of Th2 cell…”
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Paradoxical antidepressant effects of alcohol are related to acid sphingomyelinase and its control of sphingolipid homeostasis by Müller, Christian P., Kalinichenko, Liubov S., Tiesel, Jens, Witt, Matthias, Stöckl, Thomas, Sprenger, Eva, Fuchser, Jens, Beckmann, Janine, Praetner, Marc, Huber, Sabine E., Amato, Davide, Mühle, Christiane, Büttner, Christian, Ekici, Arif B., Smaga, Irena, Pomierny-Chamiolo, Lucyna, Pomierny, Bartosz, Filip, Malgorzata, Eulenburg, Volker, Gulbins, Erich, Lourdusamy, Anbarasu, Reichel, Martin, Kornhuber, Johannes

“…Alcohol is a widely consumed drug that can lead to addiction and severe brain damage. However, alcohol is also used as self-medication for psychiatric…”
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Choline transporter‐like1 (CHER1) is crucial for plasmodesmata maturation in Arabidopsis thaliana by Kraner, Max E., Link, Katrin, Melzer, Michael, Ekici, Arif B., Uebe, Steffen, Tarazona, Pablo, Feussner, Ivo, Hofmann, Jörg, Sonnewald, Uwe

“…Summary Plasmodesmata (PD) are microscopic pores connecting plant cells and enable cell‐to‐cell transport. Currently, little information is known about the…”
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Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations by Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo, Nuernberg, Peter, Reinhardt, Richard, Reis, André, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno, Beck, Bodo B.

“…Recently, the Mucin-1 ( MUC1 ) gene has been identified as a causal gene of autosomal dominant tubulointerstitial kidney disease (ADTKD). Most causative…”
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NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski by Thiel, Christian, Kessler, Kristin, Giessl, Andreas, Dimmler, Arno, Shalev, Stavit A., von der Haar, Sigrun, Zenker, Martin, Zahnleiter, Diana, Stöss, Hartmut, Beinder, Ernst, Abou Jamra, Rami, Ekici, Arif B., Schröder-Kreß, Nadja, Aigner, Thomas, Kirchner, Thomas, Reis, André, Brandstätter, Johann H., Rauch, Anita

“…Defects of ciliogenesis have been implicated in a wide range of human phenotypes and play a crucial role in signal transduction and cell-cycle coordination. We…”
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Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition by Knaup, Karl X, Hackenbeck, Thomas, Popp, Bernt, Stoeckert, Johanna, Wenzel, Andrea, Büttner-Herold, Maike, Pfister, Frederick, Schueler, Markus, Seven, Didem, May, Annette M, Halbritter, Jan, Gröne, Hermann-Josef, Reis, André, Beck, Bodo B, Amann, Kerstin, Ekici, Arif B, Wiesener, Michael S

“…Providing the correct diagnosis for patients with tubulointerstitial kidney disease and secondary degenerative disorders, such as hypertension, remains a…”
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Reduced syncytin-1 expression levels in placental syndromes correlates with epigenetic hypermethylation of the ERVW-1 promoter region by Ruebner, Matthias, Strissel, Pamela L, Ekici, Arif B, Stiegler, Elisabeth, Dammer, Ulf, Goecke, Tamme W, Faschingbauer, Florian, Fahlbusch, Fabian B, Beckmann, Matthias W, Strick, Reiner

“…Terminal differentiation of villous cytotrophoblasts (CT) ends in formation of the multinucleated syncytiotrophoblast representing the fetal-maternal…”
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