Search Results - Jenkins, Dagan

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  1. 1
    Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development

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

    Published 2007
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  2. 2
    Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages

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

    Published 2019
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  3. 3
    Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

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

    Published 2013
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  4. 4
    Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis

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

    Published 2018
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  5. 5
    Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

    Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay by 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

    Published 2011
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  6. 6
    An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis

    An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis by 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

    Published 2019
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  7. 7
    Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

    Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3 by 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

    Published 2011
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  8. 8
    COLEC10 is mutated in 3MC patients and regulates early craniofacial development

    COLEC10 is mutated in 3MC patients and regulates early craniofacial development by 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

    Published 2017
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  9. 9
    SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

    SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20 by 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

    Published 2018
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  10. 10
    Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1β in persistent cloaca and associated kidney malformations

    Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1β in persistent cloaca and associated kidney malformations by 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.

    Published 2007
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  11. 11
    RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

    RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity by 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. 

    Published 2007
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  12. 12
    Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

    Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization by 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.

    Published 2012
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  13. 13
    Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

    Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome by 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.

    Published 2011
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  14. 14
    Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

    Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations by 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

    Published 2020
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  15. 15
    Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

    Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism by 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

    Published 2021
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  16. 16
    Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

    Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome by 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

    Published 2014
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  17. 17
    Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

    Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome by 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

    Published 2015
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  18. 18
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms by 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

    Published 2016
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  19. 19
    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects by 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

    Published 2020
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