Search Results - "Chan, Wing Lee"

Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture by Despang, Alexandra, Schöpflin, Robert, Franke, Martin, Ali, Salaheddine, Jerković, Ivana, Paliou, Christina, Chan, Wing-Lee, Timmermann, Bernd, Wittler, Lars, Vingron, Martin, Mundlos, Stefan, Ibrahim, Daniel M.

“…The genome is organized in three-dimensional units called topologically associating domains (TADs), through a process dependent on the cooperative action of…”
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Formation of new chromatin domains determines pathogenicity of genomic duplications by Franke, Martin, Ibrahim, Daniel M., Andrey, Guillaume, Schwarzer, Wibke, Heinrich, Verena, Schöpflin, Robert, Kraft, Katerina, Kempfer, Rieke, Jerković, Ivana, Chan, Wing-Lee, Spielmann, Malte, Timmermann, Bernd, Wittler, Lars, Kurth, Ingo, Cambiaso, Paola, Zuffardi, Orsetta, Houge, Gunnar, Lambie, Lindsay, Brancati, Francesco, Pombo, Ana, Vingron, Martin, Spitz, Francois, Mundlos, Stefan

“…Genomic duplications in the SOX9 region are associated with human disease phenotypes; a study using human cells and mouse models reveals that the duplications…”
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Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis by Kragesteen, Bjørt K., Spielmann, Malte, Paliou, Christina, Heinrich, Verena, Schöpflin, Robert, Esposito, Andrea, Annunziatella, Carlo, Bianco, Simona, Chiariello, Andrea M., Jerković, Ivana, Harabula, Izabela, Guckelberger, Philine, Pechstein, Michael, Wittler, Lars, Chan, Wing-Lee, Franke, Martin, Lupiáñez, Darío G., Kraft, Katerina, Timmermann, Bernd, Vingron, Martin, Visel, Axel, Nicodemi, Mario, Mundlos, Stefan, Andrey, Guillaume

“…The regulatory specificity of enhancers and their interaction with gene promoters is thought to be controlled by their sequence and the binding of…”
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Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog) by Will, Anja J, Cova, Giulia, Osterwalder, Marco, Chan, Wing-Lee, Wittler, Lars, Brieske, Norbert, Heinrich, Verena, de Villartay, Jean-Pierre, Vingron, Martin, Klopocki, Eva, Visel, Axel, Lupiáñez, Darío G, Mundlos, Stefan

“…Stefan Mundlos, Darío Lupiáñez and colleagues investigate CNVs involving the regulatory landscape of IHH (Indian hedgehog), which cause craniosynostosis and…”
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Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice by Kraft, Katerina, Geuer, Sinje, Will, Anja J., Chan, Wing Lee, Paliou, Christina, Borschiwer, Marina, Harabula, Izabela, Wittler, Lars, Franke, Martin, Ibrahim, Daniel M., Kragesteen, Bjørt K., Spielmann, Malte, Mundlos, Stefan, Lupiáñez, Darío G., Andrey, Guillaume

“…Structural variations (SVs) contribute to the variability of our genome and are often associated with disease. Their study in model systems was hampered until…”
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Secretion of beta-propeller phytase from tobacco and Arabidopsis roots enhances phosphorus utilization by Lung, Shiu-Cheung, Chan, Wing-Lee, Yip, Wingkin, Wang, Lingjian, Yeung, Edward C., Lim, Boon L.

“…A large proportion of soil phosphorus (P) exists as organic compounds, of which phytic acid (IHP) is the dominant form. To generate transgenic plants capable…”
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Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator by Allou, Lila, Balzano, Sara, Magg, Andreas, Quinodoz, Mathieu, Royer-Bertrand, Beryl, Schöpflin, Robert, Chan, Wing-Lee, Speck-Martins, Carlos E., Carvalho, Daniel Rocha, Farage, Luciano, Lourenço, Charles Marques, Albuquerque, Regina, Rajagopal, Srilakshmi, Nampoothiri, Sheela, Campos-Xavier, Belinda, Chiesa, Carole, Niel-Bütschi, Florence, Wittler, Lars, Timmermann, Bernd, Spielmann, Malte, Robson, Michael I., Ringel, Alessa, Heinrich, Verena, Cova, Giulia, Andrey, Guillaume, Prada-Medina, Cesar A., Pescini-Gobert, Rosanna, Unger, Sheila, Bonafé, Luisa, Grote, Phillip, Rivolta, Carlo, Mundlos, Stefan, Superti-Furga, Andrea

“…Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks 1 , but the exact nature and extent of their involvement in human…”
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Single-cell, whole-embryo phenotyping of mammalian developmental disorders by Huang, Xingfan, Henck, Jana, Qiu, Chengxiang, Sreenivasan, Varun K. A., Balachandran, Saranya, Amarie, Oana V., Hrabě de Angelis, Martin, Behncke, Rose Yinghan, Chan, Wing-Lee, Despang, Alexandra, Dickel, Diane E., Duran, Madeleine, Feuchtinger, Annette, Fuchs, Helmut, Gailus-Durner, Valerie, Haag, Natja, Hägerling, Rene, Hansmeier, Nils, Hennig, Friederike, Marshall, Cooper, Rajderkar, Sudha, Ringel, Alessa, Robson, Michael, Saunders, Lauren M., da Silva-Buttkus, Patricia, Spielmann, Nadine, Srivatsan, Sanjay R., Ulferts, Sascha, Wittler, Lars, Zhu, Yiwen, Kalscheuer, Vera M., Ibrahim, Daniel M., Kurth, Ingo, Kornak, Uwe, Visel, Axel, Pennacchio, Len A., Beier, David R., Trapnell, Cole, Cao, Junyue, Shendure, Jay, Spielmann, Malte

“…Mouse models are a critical tool for studying human diseases, particularly developmental disorders 1 . However, conventional approaches for phenotyping may…”
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GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation by Witkos, Tomasz M., Chan, Wing Lee, Joensuu, Merja, Rhiel, Manuel, Pallister, Ed, Thomas-Oates, Jane, Mould, A. Paul, Mironov, Alex A., Biot, Christophe, Guerardel, Yann, Morelle, Willy, Ungar, Daniel, Wieland, Felix T., Jokitalo, Eija, Tassabehji, May, Kornak, Uwe, Lowe, Martin

“…COPI is a key mediator of protein trafficking within the secretory pathway. COPI is recruited to the membrane primarily through binding to Arf GTPases, upon…”
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Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica by Chan, Wing Lee, Steiner, Magdalena, Witkos, Tomasz, Egerer, Johannes, Busse, Björn, Mizumoto, Shuji, Pestka, Jan M, Zhang, Haikuo, Hausser, Ingrid, Khayal, Layal Abo, Ott, Claus-Eric, Kolanczyk, Mateusz, Willie, Bettina, Schinke, Thorsten, Paganini, Chiara, Rossi, Antonio, Sugahara, Kazuyuki, Amling, Michael, Knaus, Petra, Chan, Danny, Lowe, Martin, Mundlos, Stefan, Kornak, Uwe

“…Gerodermia osteodysplastica (GO) is characterized by skin laxity and early-onset osteoporosis. GORAB, the responsible disease gene, encodes a small Golgi…”
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Examining tissue composition, whole-bone morphology and mechanical behavior of Gorab Prx1 mice tibiae: A mouse model of premature aging by Yang, Haisheng, Albiol, Laia, Chan, Wing-Lee, Wulsten, Dag, Seliger, Anne, Thelen, Michael, Thiele, Tobias, Spevak, Lyudmila, Boskey, Adele, Kornak, Uwe, Checa, Sara, Willie, Bettina M

“…Gerodermia osteodysplastica (GO) is a segmental progeroid disorder caused by loss-of-function mutations in the GORAB gene, associated with early onset…”
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Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging by Yang, Haisheng, Albiol, Laia, Chan, Wing-Lee, Wulsten, Dag, Seliger, Anne, Thelen, Michael, Thiele, Tobias, Spevak, Lyudmila, Boskey, Adele, Kornak, Uwe, Checa, Sara, Willie, Bettina M.

“…Gerodermia osteodysplastica (GO) is a segmental progeroid disorder caused by loss-of-function mutations in the GORAB gene, associated with early onset…”
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TGF-β induced senescence is a novel therapeutic target for treating osteoporosis in Gerodermia Osteodysplastica by Chan, Wing Lee, Goldes, Jonathan, Steiner, Magdalena, Ma, Alvin C., Mundlos, Stefan, Kornak, Uwe

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The effect of a deteriorated architecture of the lacunocanalicular network on the organization and mineralization of the extracellular matrix by Roschger, Andreas, van Tol, Alexander F., Thelen, Michael, Seliger, Anne, Yang, Haisheng, Chan, Wing Lee, Thiele, Tobias, Roschger, Paul, Duda, Georg N., Zaslansky, Paul, Kornak, Uwe, Willie, Bettina M., Weinkamer, Richard

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Five-year experience of outpatient laparoscopic cholecystectomy in Hong Kong by Chok, Kenneth Siu-Ho, Yuen, Wai-Key, Lau, Hung, Chan-Wing Lee, Francis, Fan, Sheung-Tat

“…Laparoscopic cholecystectomy (LC) is the standard procedure for the management of symptomatic gallstone disease. There are many studies that have evaluated LC…”
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Properties of beta-propeller phytase expressed in transgenic tobacco by Chan, Wing-Lee, Lung, Shiu-Cheung, Lim, Boon L.

“…Phytases are enzymes that liberate inorganic phosphates from phytate. In a previous study, a beta-propeller phytase ( 168phyA) from Bacillus subtilis was…”
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Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions by Weinert, Stefanie, Jabs, Sabrina, Hohensee, Svea, Chan, Wing Lee, Kornak, Uwe, Jentsch, Thomas J

“…Loss of the lysosomal ClC‐7/Ostm1 2Cl − /H + exchanger causes lysosomal storage disease and osteopetrosis in humans and additionally changes fur colour in…”
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Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice by Spielmann, Malte, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nürnberg, Gudrun, Sowada, Nadine, Lupiáñez, Darío G, Harabula, Izabela, Flöttmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Rüstem, Altmüller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E, Nürnberg, Peter, Bowie, James U, Ahmad, Jamil, Kubisch, Christian, Mundlos, Stefan, Borck, Guntram

“…The CRISPR/Cas technology enables targeted genome editing and the rapid generation of transgenic animal models for the study of human genetic disorders. Here…”
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GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting by Egerer, Johannes, Emmerich, Denise, Fischer-Zirnsak, Björn, Chan, Wing Lee, Meierhofer, David, Tuysuz, Beyhan, Marschner, Katrin, Sauer, Sascha, Barr, Francis A., Mundlos, Stefan, Kornak, Uwe

“…Gerodermia osteodysplastica is a hereditary segmental progeroid disorder affecting skin, connective tissues, and bone that is caused by loss-of-function…”
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Composition and dosage of a multipartite enhancer cluster control developmental expression of Indian hedgehog by Will, Anja J., Cova, Giulia, Osterwalder, Marco, Chan, Wing-Lee, Wittler, Lars, Brieske, Norbert, Heinrich, Verena, de Villartay, Jean-Pierre, Vingron, Martin, Klopocki, Eva, Visel, Axel, Lupiáñez, Darío G., Mundlos, Stefan

“…Copy number variations (CNVs) often include non-coding sequence and putative enhancers but how these rearrangements induce disease is poorly understood. Here…”
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