Výsledky vyhledávání - Jenkins, Dagan 

Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development Autor Jenkins, Dagan, Winyard, Paul J D, Woolf, Adrian S

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Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages Autor Seda, Marian, Peskett, Emma, Demetriou, Charalambos, Bryant, Dale, Moore, Gudrun E., Stanier, Philip, Jenkins, Dagan

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Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization Autor Hernandez-Hernandez, Victor, Pravincumar, Priyanka, Diaz-Font, Anna, May-Simera, Helen, Jenkins, Dagan, Knight, Martin, Beales, Philip L.

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Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis Autor Taschner, Michael, Lorentzen, Anna, Mourão, André, Collins, Toby, Freke, Grace M, Moulding, Dale, Basquin, Jerome, Jenkins, Dagan, Lorentzen, Esben

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Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay Autor Jenkins, Dagan, Baynam, Gareth, De Catte, Luc, Elcioglu, Nursel, Gabbett, Michael T, Hudgins, Louanne, Hurst, Jane A, Jehee, Fernanda Sarquis, Oley, Christine, Wilkie, Andrew O M

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An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis Autor Seda, Marian, Geerlings, Maartje, Lim, Peggy, Jeyabalan-Srikaran, Jeshmi, Cichon, Ann-Christin, Scambler, Peter J., Beales, Philip L., Hernandez-Hernandez, Victor, Stoker, Andrew W., Jenkins, Dagan

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Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3 Autor Hurst, Jane A, Jenkins, Dagan, Vasudevan, Pradeep C, Kirchhoff, Maria, Skovby, Flemming, Rieubland, Claudine, Gallati, Sabina, Rittinger, Olaf, Kroisel, Peter M, Johnson, David, Biesecker, Leslie G, Wilkie, Andrew OM

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COLEC10 is mutated in 3MC patients and regulates early craniofacial development Autor Munye, Mustafa M., Diaz-Font, Anna, Ocaka, Louise, Henriksen, Maiken L., Lees, Melissa, Brady, Angela, Jenkins, Dagan, Morton, Jenny, Hansen, Soren W., Bacchelli, Chiara, Beales, Philip L., Hernandez-Hernandez, Victor

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SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20 Autor Bryant, Dale, Liu, Yang, Datta, Sanchari, Hariri, Hanaa, Seda, Marian, Anderson, Glenn, Peskett, Emma, Demetriou, Charalambos, Sousa, Sergio, Jenkins, Dagan, Clayton, Peter, Bitner-Glindzicz, Maria, Moore, Gudrun E, Henne, W Mike, Stanier, Philip

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Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1β in persistent cloaca and associated kidney malformations Autor Jenkins, Dagan, Bitner-Glindzicz, Maria, Thomasson, Louise, Malcolm, Sue, Warne, Stephanie A., Feather, Sally A., Flanagan, Sarah E., Ellard, Sian, Bingham, Coralie, Santos, Lane, Henkemeyer, Mark, Zinn, Andrew, Baker, Linda A., Wilcox, Duncan T., Woolf, Adrian S.

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RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity Autor Jenkins, Dagan , Seelow, Dominik , Jehee, Fernanda S. , Perlyn, Chad A. , Alonso, Luís G. , Bueno, Daniela F. , Donnai, Dian , Josifiova, Dragana , Mathijssen, Irene M. J. , Morton, Jenny E. V. , Ørstavik, Karen Helene , Sweeney, Elizabeth , Wall, Steven A. , Marsh, Jeffrey L. , Nürnberg, Peter , Passos-Bueno, Maria Rita , Wilkie, Andrew O. M. 

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Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization Autor Twigg, Stephen R.F., Lloyd, Deborah, Jenkins, Dagan, Elçioglu, Nursel E., Cooper, Christopher D.O., Al-Sannaa, Nouriya, Annagür, Ali, Gillessen-Kaesbach, Gabriele, Hüning, Irina, Knight, Samantha J.L., Goodship, Judith A., Keavney, Bernard D., Beales, Philip L., Gileadi, Opher, McGowan, Simon J., Wilkie, Andrew O.M.

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Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome Autor Rooryck, Caroline, Diaz-Font, Anna, Osborn, Daniel P.S., Chabchoub, Elyes, Hernandez-Hernandez, Victor, Shamseldin, Hanan, Kenny, Joanna, Waters, Aoife, Jenkins, Dagan, Kaissi, Ali Al, Leal, Gabriela F., Dallapiccola, Bruno, Carnevale, Franco, Bitner-Glindzicz, Maria, Lees, Melissa, Hennekam, Raoul, Stanier, Philip, Burns, Alan J., Peeters, Hilde, Alkuraya, Fowzan S, Beales, Philip L.

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Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations Autor Bryant, Dale, Seda, Marian, Peskett, Emma, Maurer, Constance, Pomeranz, Gideon, Ghosh, Marcus, Hawkins, Thomas A., Cleak, James, Datta, Sanchari, Hariri, Hanaa, Eckert, Kaitlyn M., Jafree, Daniyal J., Walsh, Claire, Demetriou, Charalambos, Ishida, Miho, Alemán-Charlet, Cristina, Vestito, Letizia, Seselgyte, Rimante, McDonald, Jeffrey G., Bitner-Glindzicz, Maria, Hemberger, Myriam, Rihel, Jason, Teboul, Lydia, Henne, W. Mike, Jenkins, Dagan, Moore, Gudrun E., Stanier, Philip

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Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism Autor Lam, Wai-Yee, Tang, Clara Sze-Man, So, Man-Ting, Yue, Haibing, Hsu, Jacob Shujui, Chung, Patrick Ho-Yu, Nicholls, John M., Yeung, Fanny, Lee, Chun-Wai Davy, Ngo, Diem Ngoc, Nguyen, Pham Anh Hoa, Mitchison, Hannah M., Jenkins, Dagan, O'Callaghan, Christopher, Garcia-Barceló, Maria-Mercè, Lee, So-Lun, Sham, Pak-Chung, Lui, Vincent Chi-Hang, Tam, Paul Kwong-Hang

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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome Autor Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip

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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome Autor Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip

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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms Autor Boldt, Karsten, van Reeuwijk, Jeroen, Lu, Qianhao, Koutroumpas, Konstantinos, Nguyen, Thanh-Minh T., Texier, Yves, van Beersum, Sylvia E. C., Horn, Nicola, Willer, Jason R., Mans, Dorus A., Dougherty, Gerard, Lamers, Ideke J. C., Coene, Karlien L. M., Arts, Heleen H., Betts, Matthew J., Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J. F., Marcelis, Carlo L., Mitic, Dragana, Morleo, Manuela, Oud, Machteld M., Riemersma, Moniek, Rix, Susan, Terhal, Paulien A., Toedt, Grischa, van Dam, Teunis J. P., de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L., Blacque, Oliver E., Gibson, Toby J., Huynen, Martijn A., Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E., Franco, Brunella, Giles, Rachel H., Ueffing, Marius, Russell, Robert B., Roepman, Ronald

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects Autor Manole, Andreea, Efthymiou, Stephanie, O’Connor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayca Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Si, Yue, Telegrafi, Aida, Andrews, Marisa V., Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frédéric, van Ravenwaaij, Conny, Fock, Annemarie J.M., Stevens, Servi J.C., Bähler, Jürg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desirée E.C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshøj, Tina Duelund, Karstensen, Helena Gásdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean-Louis, Koolen, David A., Houlden, Henry

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