Results 91 to 100 of about 13,378 (282)

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Science
Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct isotypes form cell type– and context-specific microtubule structures is poorly understood ...
Daniel O. Dodd, S. Mechaussier, P. Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, A. Shoemark, D. Gupta, Thomas Attard, M. Zariwala, M. Legendre, D. Bracht, J. Wallmeier, Miao Gui, Mahmoud R. Fassad, David A Parry, Peter A. Tennant, Alison Meynert, G. Wheway, L. Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, J. Kaplan, Mitali P Patel, Lisa McKie, R. Megaw, Christos Gatsogiannis, M. Mohamed, Stuart Aitken, Philippe Gautier, Finn R. Reinholt, Robert A. Hirst, Christopher O’Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, M. Descartes, E. Jabs, P. Kenia, Jeanne Amiel, G. Bacci, C. Calogero, Viviana Palazzo, L. Tiberi, Ulrike Blümlein, Andrew Rogers, J. A. Wambach, D. Wegner, A. Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan J. Quigley, Emma A. Hall, Laura C. Murphy, Diana M Cassidy, A. von Kriegsheim, J. Papon, Laurent Pasquier, Marlène S. Murris, James D. Chalmers, Clare Hogg, Kenneth A. Macleod, Donald S Urquhart, Stefan Unger, Timothy J. Aitman, Serge Amselem, M. Leigh, M. Knowles, H. Omran, Hannah M. Mitchison, Alan Brown, Joseph A. Marsh, J. Welburn, S. Ti, A. Horani, J. Rozet, I. Perrault, P. Mill   +80 more
semanticscholar   +1 more source

Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks [PDF]

, 2016
This is the final version of the article. Available from the publisher via the DOI in this record.BACKGROUND: Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases termed ...
Barker, AR, Dawe, HR, Fry, K, Renzaglia, KS   +3 more
core   +1 more source

Primary Cilia and Their Role in Acquired Heart Disease

Cells, 2022
Primary cilia are non-motile plasma membrane extrusions that display a variety of receptors and mechanosensors. Loss of function results in ciliopathies, which have been strongly linked with congenital heart disease, as well as abnormal development and ...
Zachariah E. Hale, Junichi Sadoshima
doaj   +1 more source

WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome [PDF]

, 2017
WDR11 has been implicated in congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by delayed puberty and infertility. However, WDR11's role in development is poorly understood.
Caligioni CS, Cheol‐Hee Kim, Daniel PS Osborn, Francesc Miralles, Hyung‐Goo Kim, Hyun‐Taek Kim, Ji‐Young Lee, Johanna Känsäkoski, Juan Pedro Martinez‐Barbera, Kimi Araki, Lawrence C Layman, Masatake Araki, Miyamoto N, Nigel A Brown, Nina Brandstack, Paris Ataliotis, Soo‐Hyun Kim, Taneli Raivio, Theil T, Timothy Mohun, Treier M, Westerfield M, Yeon‐Joo Kim   +22 more
core   +3 more sources

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features. [version 2; peer review: 2 approved]

F1000Research, 2023
Background. Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with an estimated prevalence of 1 in 100,000. JS is characterized by hyperpnoea, hypotonia, ataxia, developmental delay and various neuropathological abnormalities in the brain ...
Gazmend Temaj, John A Sayer, Lidvana Spahiu, Thomas Liehr, Emir Behluli   +4 more
doaj  

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

HGG Advances, 2021
Summary: The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell ...
Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty   +19 more
doaj  

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Hepatology, 2020
The clinical consequences of defective primary cilium (ciliopathies) are characterized by marked phenotypic and genetic heterogeneity. Although fibrocystic liver disease is an established ciliopathy phenotype, severe neonatal cholestasis is rarely ...
R. Shaheen, Saud Alsahli, Nour Ewida, F. Alzahrani, H. Shamseldin, N. Patel, A. Al Qahtani, Homoud Alhebbi, Amal M Alhashem, Tarfa Al‐Sheddi, Rana Alomar, Eman Alobeid, M. Abouelhoda, D. Monies, Abdulrahman Al-Hussaini, Muneerah A Alzouman, M. Shagrani, E. Faqeih, F. Alkuraya   +18 more
semanticscholar   +1 more source

Motile cilia defects in diseases other than primary ciliary dyskinesia:The contemporary diagnostic and research role for transmission electron microscopy [PDF]

, 2017
Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s.
Afzelius BA, Amelia Shoemark, Hannah M Mitchison, Harrison MJ, Hirst R, Murcia NS, Piorunek T   +6 more
core   +3 more sources

Dysregulation of sonic hedgehog signaling causes hearing loss in ciliopathy mouse models

eLife, 2020
Defective primary cilia cause a range of diseases known as ciliopathies, including hearing loss. The etiology of hearing loss in ciliopathies, however, remains unclear.
Kyeong-Hye Moon, Ji-Hyun Ma, Hyehyun Min, Heiyeun Koo, Hongkyung Kim, H. Ko, J. Bok   +6 more
semanticscholar   +1 more source

Phosphorylation at the Helm: Kinase‐Mediated Regulation of Primary Cilia Assembly and Disassembly

Cytoskeleton, EarlyView.
ABSTRACT The primary cilium serves as an antenna of most vertebrate cells and is important for conveying cues from several signaling pathways into appropriate cellular responses during development and homeostasis. Cilia assembly and disassembly processes are thought to be strictly controlled; however, the precise nature of molecular events underlying ...
Andrea Lacigová, Lukáš Čajánek
wiley   +1 more source