Search Results - "Braunholz, Diana"

Applicability of liquid biopsies to represent the mutational profile of tumor tissue from different cancer entities by Liebs, Sandra, Eder, Theresa, Klauschen, Frederick, Schütte, Moritz, Yaspo, Marie-Laure, Keilholz, Ulrich, Tinhofer, Ingeborg, Kidess-Sigal, Evelyn, Braunholz, Diana

“…Genetic investigation of tumor heterogeneity and clonal evolution in solid cancers could be assisted by the analysis of liquid biopsies. However, tumors of…”
Get full text

RAD21 Mutations Cause a Human Cohesinopathy by Deardorff, Matthew A., Wilde, Jonathan J., Albrecht, Melanie, Dickinson, Emma, Tennstedt, Stephanie, Braunholz, Diana, Mönnich, Maren, Yan, Yuqian, Xu, Weizhen, Gil-Rodríguez, María Concepcion, Clark, Dinah, Hakonarson, Hakon, Halbach, Sara, Michelis, Laura Daniela, Rampuria, Abhinav, Rossier, Eva, Spranger, Stephanie, Van Maldergem, Lionel, Lynch, Sally Ann, Gillessen-Kaesbach, Gabriele, Lüdecke, Hermann-Josef, Ramsay, Robert G., McKay, Michael J., Krantz, Ian D., Xu, Huiling, Horsfield, Julia A., Kaiser, Frank J.

“…The evolutionarily conserved cohesin complex was originally described for its role in regulating sister-chromatid cohesion during mitosis and meiosis. Cohesin…”
Get full text

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes by Parenti, Ilaria, Teresa-Rodrigo, María E., Pozojevic, Jelena, Ruiz Gil, Sara, Bader, Ingrid, Braunholz, Diana, Bramswig, Nuria C., Gervasini, Cristina, Larizza, Lidia, Pfeiffer, Lutz, Ozkinay, Ferda, Ramos, Feliciano, Reiz, Benedikt, Rittinger, Olaf, Strom, Tim M., Watrin, Erwan, Wendt, Kerstin, Wieczorek, Dagmar, Wollnik, Bernd, Baquero-Montoya, Carolina, Pié, Juan, Deardorff, Matthew A., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

“…The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional…”
Get full text

Spheroid Culture of Head and Neck Cancer Cells Reveals an Important Role of EGFR Signalling in Anchorage Independent Survival by Braunholz, Diana, Saki, Mohammad, Niehr, Franziska, Öztürk, Merve, Borràs Puértolas, Berta, Konschak, Robert, Budach, Volker, Tinhofer, Ingeborg

“…In solid tumours millions of cells are shed into the blood circulation each day. Only a subset of these circulating tumour cells (CTCs) survive, many of them…”
Get full text

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6) by Kaiser, Frank J., Osmanoric, Alma, Rakovic, Aleksandar, Erogullari, Alev, Uflacker, Nils, Braunholz, Diana, Lohnau, Thora, Orolicki, Slobodanka, Albrecht, Melanie, Gillessen-Kaesbach, Gabriele, Klein, Christine, Lohmann, Katja

“…Mutations in THAP1 have been associated with dystonia 6. THAP1 encodes a transcription factor with mostly unknown targets. We tested the hypothesis that THAP1…”
Get full text

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element by Zuin, Jessica, Casa, Valentina, Pozojevic, Jelena, Kolovos, Petros, van den Hout, Mirjam C G N, van Ijcken, Wilfred F J, Parenti, Ilaria, Braunholz, Diana, Baron, Yorann, Watrin, Erwan, Kaiser, Frank J, Wendt, Kerstin S

“…Cohesin is crucial for genome stability, cell division, transcription and chromatin organization. Its functions critically depend on NIPBL, the cohesin-loader…”
Get full text

Intratumor heterogeneity in epithelial cancer: Assessment in cell line models and circulating tumor cells by Wimba W. Dinutanayo, Ingeborg T. Keilholz, Diana Braunholz

“…Background: CTCs are present only in small numbers in patients' blood. This study aimed to establish a protocol for enumeration and phenotypic characterization…”
Get full text

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome by Teresa-Rodrigo, María E, Eckhold, Juliane, Puisac, Beatriz, Dalski, Andreas, Gil-Rodríguez, María C, Braunholz, Diana, Baquero, Carolina, Hernández-Marcos, María, de Karam, Juan C, Ciero, Milagros, Santos-Simarro, Fernando, Lapunzina, Pablo, Wierzba, Jolanta, Casale, César H, Ramos, Feliciano J, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J, Pié, Juan

“…Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive…”
Get full text

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics by Braunholz, Diana, Obieglo, Carolin, Parenti, Ilaria, Pozojevic, Jelena, Eckhold, Juliane, Reiz, Benedikt, Brænne, Ingrid, Wendt, Kerstin S., Watrin, Erwan, Vodopiutz, Julia, Rieder, Harald, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

Get full text

Dysfunctional nitric oxide signalling increases risk of myocardial infarction by Erdmann, Jeanette, Stark, Klaus, Esslinger, Ulrike B., Rumpf, Philipp Moritz, Koesling, Doris, de Wit, Cor, Kaiser, Frank J., Braunholz, Diana, Medack, Anja, Fischer, Marcus, Zimmermann, Martina E., Tennstedt, Stephanie, Graf, Elisabeth, Eck, Sebastian, Aherrahrou, Zouhair, Nahrstaedt, Janja, Willenborg, Christina, Bruse, Petra, Brænne, Ingrid, Nöthen, Markus M., Hofmann, Per, Braund, Peter S., Mergia, Evanthia, Reinhard, Wibke, Burgdorf, Christof, Schreiber, Stefan, Balmforth, Anthony J., Hall, Alistair S., Bertram, Lars, Steinhagen-Thiessen, Elisabeth, Li, Shu-Chen, März, Winfried, Reilly, Muredach, Kathiresan, Sekar, McPherson, Ruth, Walter, Ulrich, Ott, Jurg, Samani, Nilesh J., Strom, Tim M., Meitinger, Thomas, Hengstenberg, Christian, Schunkert, Heribert

“…Two private, heterozygous mutations in two functionally related genes, GUCY1A3 and CCT7 , are identified in an extended family with myocardial infarction;…”
Get full text

Preclinical models of head and neck squamous cell carcinoma for a basic understanding of cancer biology and its translation into efficient therapies by Tinhofer, Ingeborg, Braunholz, Diana, Klinghammer, Konrad

“…Abstract Comprehensive molecular characterization of head and neck squamous cell carcinoma (HNSCC) has led to the identification of distinct molecular…”
Get full text

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance by Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.

“…Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies,…”
Get full text

Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3 by Wuelling, Manuela, Kaiser, Frank J., Buelens, Laetitia A., Braunholz, Diana, Shivdasani, Ramesh A., Depping, Reinhard, Vortkamp, Andrea

“…Trps1, the gene mutated in human Tricho-Rhino-Phalangeal syndrome, represents an atypical member of the GATA-family of transcription factors. Here we show that…”
Get full text

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes by Bramswig, Nuria C., Lüdecke, Hermann-Josef, Alanay, Yasemin, Albrecht, Beate, Barthelmie, Alexander, Boduroglu, Koray, Braunholz, Diana, Caliebe, Almuth, Chrzanowska, Krystyna H., Czeschik, Johanna Christina, Endele, Sabine, Graf, Elisabeth, Guillén-Navarro, Encarna, Kiper, Pelin Özlem Simsek, López-González, Vanesa, Parenti, Ilaria, Pozojevic, Jelena, Utine, Gulen Eda, Wieland, Thomas, Kaiser, Frank J., Wollnik, Bernd, Strom, Tim M., Wieczorek, Dagmar

“…Coffin–Siris syndrome (CSS) and Nicolaides–Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent…”
Get full text

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype by Parenti, I., Gervasini, C., Pozojevic, J., Graul-Neumann, L., Azzollini, J., Braunholz, D., Watrin, E., Wendt, K.S., Cereda, A., Cittaro, D., Gillessen-Kaesbach, G., Lazarevic, D., Mariani, M., Russo, S., Werner, R., Krawitz, P., Larizza, L., Selicorni, A., Kaiser, F.J.

“…Cornelia de Lange syndrome (CdLS) and KBG syndrome are two distinct developmental pathologies sharing common features such as intellectual disability,…”
Get full text

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics by Braunholz, Diana, Obieglo, Carolin, Parenti, Ilaria, Pozojevic, Jelena, Eckhold, Juliane, Reiz, Benedikt, Brænne, Ingrid, Wendt, Kerstin S., Watrin, Erwan, Vodopiutz, Julia, Rieder, Harald, Gillessen‐Kaesbach, Gabriele, Kaiser, Frank J.

“…ABSTRACT Cornelia de Lange syndrome (CdLS) is a well‐characterized developmental disorder. The genetic cause of CdLS is a mutation in one of five associated…”
Get full text

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction by Parenti, I., Gervasini, C., Pozojevic, J., Wendt, K.S., Watrin, E., Azzollini, J., Braunholz, D., Buiting, K., Cereda, A., Engels, H., Garavelli, L., Glazar, R., Graffmann, B., Larizza, L., Lüdecke, H.J., Mariani, M., Masciadri, M., Pié, J., Ramos, F.J., Russo, S., Selicorni, A., Stefanova, M., Strom, T.M., Werner, R., Wierzba, J., Zampino, G., Gillessen-Kaesbach, G., Wieczorek, D., Kaiser, F.J.

“…Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple…”
Get full text

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression by Erogullari, Alev, Hollstein, Ronja, Seibler, Philip, Braunholz, Diana, Koschmidder, Eva, Depping, Reinhard, Eckhold, Juliane, Lohnau, Thora, Gillessen-Kaesbach, Gabriele, Grünewald, Anne, Rakovic, Aleksandar, Lohmann, Katja, Kaiser, Frank J.

“…THAP1 encodes a transcription factor but its regulation is largely elusive. TOR1A was shown to be repressed by THAP1 in vitro. Notably, mutations in both of…”
Get full text

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics by Braunholz, Diana, Obieglo, Carolin, Parenti, Ilaria, Pozojevic, Jelena, Eckhold, Juliane, Reiz, Benedikt, Brænne, Ingrid, Wendt, Kerstin S., Watrin, Erwan, Vodopiutz, Julia, Rieder, Harald, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

Get full text

Hidden Mutations in CdLS - Limitations of Sanger Sequencing in Molecular Diagnostics by Braunholz, Diana, Obieglo, Carolin, Parenti, Ilaria, Pozojevic, Jelena, Eckhold, Juliane, Reiz, Benedikt, Braenne, Ingrid, Wendt, Kerstin S., Watrin, Erwan, Vodopiutz, Julia, Rieder, Harald, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

“…Cornelia de Lange syndrome (CdLS) is a well characterized developmental disorder. The genetic cause of CdLS is a mutation in one of five associated genes…”
Get full text