检索结果 - Dagan Jenkins

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  1. 1
    Putative roles of cilia in polycystic kidney disease

    Putative roles of cilia in polycystic kidney disease 由 Paul J.D. Winyard, Dagan Jenkins

    出版 2011
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  2. 2
    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 由 Víctor Hernández-Hernández, Priyanka Pravincumar, Anna Dı́az-Font, Helen May‐Simera, Dagan Jenkins, Martin M. Knight, Philip L. Beales

    出版 2013
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    Artigo
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  3. 3
    Carpenter syndrome: extended <i>RAB23</i> mutation spectrum and analysis of nonsense‐mediated mRNA decay

    Carpenter syndrome: extended <i>RAB23</i> mutation spectrum and analysis of nonsense‐mediated mRNA decay 由 Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elçioǧlu, Michael T. Gabbett, Louanne Hudgins, Jane A. Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O.M. Wilkie

    出版 2011
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  4. 4
    Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4

    Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4 由 Xavier Caubit, Claire M. Lye, Elise Martin, Nathalie Coré, David A. Long, Christine Vola, Dagan Jenkins, Alistair N. Garratt, Helen Skaer, Adrian S. Woolf, Laurent Fasano

    出版 2008
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  5. 5
    COLEC10 is mutated in 3MC patients and regulates early craniofacial development

    COLEC10 is mutated in 3MC patients and regulates early craniofacial development 由 Mustafa M. Munye, Anna Dı́az-Font, Louise Ocaka, Maiken L. Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Søren Hansen, Chiara Bacchelli, Philip L. Beales, Víctor Hernández-Hernández

    出版 2017
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  6. 6
    Ciliopathy-associated missense mutations in IFT140 are tolerated by the inherent resilience of the IFT machinery

    Ciliopathy-associated missense mutations in IFT140 are tolerated by the inherent resilience of the IFT machinery 由 Tina Beyer, Gaurav D. Diwan, Tobias Leonhard, Katrin Dahlke, Franziska Klose, Isabel F. Stehle, Marian Seda, Sylvia Bolz, Franziska Woerz, Robert B. Russell, Dagan Jenkins, Marius Ueffing, Karsten Boldt

    出版 2025
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    Artigo
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  7. 7
    De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure

    De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure 由 Dagan Jenkins, Maria Bitner‐Glindzicz, Sue Malcolm, Chih‐Chi Andrew Hu, Jennifer Allison, Paul J.D. Winyard, Ambrose Gullett, David F. Thomas, Rachel Belk, Sally Feather, Tung‐Tien Sun, Adrian S. Woolf

    出版 2005
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  8. 8
    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 由 Dale Bryant, Yang Liu, Sanchari Datta, Hanaa Hariri, Marian Seda, Glenn Anderson, Emma Peskett, Charalambos Demetriou, Sérgio B. Sousa, Dagan Jenkins, Peter T. Clayton, Maria Bitner‐Glindzicz, Gudrun E. Moore, W. Mike Henne, Philip Stanier

    出版 2018
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  9. 9
    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 由 Stephen R.F. Twigg, Deborah Lloyd, Dagan Jenkins, Nursel E. Elçioglu, C.D.O. Cooper, Nouriya Al‐Sannaa, Alı Annagür, Gabriele Gillessen‐Kaesbach, Irina Hüning, Samantha J.L. Knight, Judith A. Goodship, Bernard Keavney, Philip L. Beales, O. Gileadi, Simon J. McGowan, Andrew O.M. Wilkie

    出版 2012
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  10. 10
    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 由 Dagan Jenkins, Dominik Seelow, Fernanda Sarquis Jehee, Chad A. Perlyn, Luís Garcia Alonso, Daniela Franco Bueno, Dian Donnai, Dragana Josifiova, Irene M.J. Mathijssen, Jenny E.V. Morton, Karen Helene Ørstavik, Elizabeth Sweeney, Steven A. Wall, Jeffrey L. Marsh, Peter Nürnberg, Maria Rita Passos‐Bueno, Andrew O.M. Wilkie

    出版 2007
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  11. 11
    Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

    Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome 由 Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn, Elyes Chabchoub, Víctor Hernández-Hernández, Hanan E. Shamseldin, Joanna Kenny, Aoife Waters, Dagan Jenkins, Ali Al Kaissi, Gabriela Ferraz Leal, Bruno Dallapiccola, Franco A. Carnevale, Maria Bitner‐Glindzicz, Melissa Lees, Raoul C. M. Hennekam, Philip Stanier, Alan J. Burns, Hilde Peeters, Fowzan S. Alkuraya, Philip L. Beales

    出版 2011
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  12. 12
    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 由 Wai-Yee Lam, Clara Sze-Man Tang, Man‐Ting So, Haibing Yue, Jacob Shujui Hsu, Bhy Chung, John Nicholls, Fanny Yeung, Chun-Wai Davy Lee, Diem Ngoc Ngo, Pham Anh Nguyen, Hannah M. Mitchison, Dagan Jenkins, Christopher O’Callaghan, María-Mercé García-Barceló, So Lun Lee, Pak C. Sham, Vincent Chi‐Hang Lui, Paul Kwong‐Hang Tam

    出版 2021
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  13. 13
    Characterization of activating mutations of NOTCH3 in T-cell acute lymphoblastic leukemia and anti-leukemic activity of NOTCH3 inhibitory antibodies

    Characterization of activating mutations of NOTCH3 in T-cell acute lymphoblastic leukemia and anti-leukemic activity of NOTCH3 inhibitory antibodies 由 Paula Bernasconi-Elias, T. Hu, Dagan Jenkins, Brant Firestone, Sara Gans, Esther Kurth, Paola Capodieci, J Deplazes-Lauber, Konstantin Petropoulos, Philipp Thiel, Dirk Ponsel, Sung Hee Choi, Peter K. LeMotte, Anne Serdakowski London, M Goetcshkes, Erin Nolin, MAURICE JONES, Kelly L. Slocum, Michael Kluk, David M. Weinstock, Alexandra Christodoulou, Olga K. Weinberg, Jan Jaehrling, Seth A. Ettenberg, Alan Buckler, Stephen C. Blacklow, Jon C. Aster, Christy J. Fryer

    出版 2016
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  14. 14
    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 由 Anna Thomas, Hywel Williams, Núria Setó‐Salvia, Chiara Bacchelli, Dagan Jenkins, Mary E. O’Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew Duncan, Yun Jin Pai, Jorge Saraiva, Fabiana Ramos, Bernadette Farren, Dawn E. Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas Wood, Joshua Hersheson, Henry Houlden, Jane A. Hurst, Richard H. Scott, Maria Bitner‐Glindzicz, Gudrun E. Moore, Sérgio B. Sousa, Philip Stanier

    出版 2014
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    Artigo
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  15. 15
    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 由 Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, María Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden

    出版 2020
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  16. 16
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 由 Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard W. Dougherty, Ideke J.C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Képès, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, Saeed Al-Turki, Carl E. Anderson, Dinu Antony, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, Petr Danecek, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Christopher Joyce, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Ros Whittall, Kathy Williamson

    出版 2016
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