Results 101 to 110 of about 12,422 (262)

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton [PDF]

, 2013
Planar cell polarity (PCP) regulates cell alignment required for collective cell movement during embryonic development. This requires PCP/PCP effector proteins, some of which also play essential roles in ciliogenesis, highlighting the long-standing ...
Adam V. Kwiatkowski, AJ Ross, B Schermer, Bishwanath Chatterjee, C Cui, C Jones, C Jones, C Stuckenholz, CB Kimmel, CD Nobes, Cecilia W. Lo, Chandrakala Puligilla, Cheng Cui, CJ Haycraft, CU Stirnimann, CW Sipe, D Huangfu, D Huangfu, D Yelon, Deanne Francis, E Joo, EK Vladar, Elias T. Spiliotis, F Hildebrandt, GJ Pazour, Gregory J. Pazour, Hisato Yagi, HM Phillips, HM Phillips, I Drummond, J Magdalena, J Wang, J Wang, JB Wallingford, JB Wallingford, JL Badano, Jovenal T. San Agustin, K Schmidt, K Takemaru, KC Corbit, KC Corbit, Lisa M. Swanhart, M Castori, M Fliegauf, M Kelly, M Kinoshita, M Montcouquiol, M Simons, Matthew P. Scott, Matthew W. Kelley, Neil A. Hukriede, Q Hu, Q Yu, Qing Yu, R Rohatgi, RA Meseroll, Richard J. Francis, RJ Francis, Rocky Tuan, S Collier, S Maretto, S Saburi, SD Weatherbee, SK Kim, Subramaniam Sanker, T Caspary, T Kudoh, Tania Chatterjee, Terry Tansey, Thomas P. Lozito, TJ Park, X Wen, Xiaoqin Liu, Y Wang, Zhen Zhang   +74 more
core   +4 more sources

Identification of Important Effector Proteins in the FOXJ1 Transcriptional Network Associated With Ciliogenesis and Ciliary Function

Frontiers in Genetics, 2019
Developmental defects in motile cilia, arising from genetic abnormalities in one or more ciliary genes, can lead to a common ciliopathy known as primary ciliary dyskinesia (PCD). Functional studies in model organisms undertaken to understand PCD or cilia
Ishita Mukherjee, Sudipto Roy, Sudipto Roy, Sudipto Roy, Saikat Chakrabarti   +4 more
doaj   +1 more source

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency

Clinical Genetics, Volume 108, Issue 4, Page 479-485, October 2025.
We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts, Esther Kinning, Donald R. Latner, Marla Johnston, Jessica Patrick‐Esteve, Gregory M. Cooper, Stephen R. F. Twigg, Alistair T. Pagnamenta, Jenny C. Taylor   +8 more
wiley   +1 more source

Ciliopathies: an expanding disease spectrum [PDF]

Pediatric Nephrology, 2011
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal ...
Aoife M. Waters, Philip L. Beales
openaire   +3 more sources

IMPROVE 2023: The 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, Volume 15, Issue 5, October 2025.
ABSTRACT A total of 150 clinicians and researchers representing 19 countries came together in person and online to participate in the highly anticipated 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE), held on 13–15 December 2023 in Paris, France.
Karine Clément, Erica L. T. van den Akker, Jesús Argente, Phil Beales, Metin Cetiner, Béatrice Dubern, Sadaf Farooqi, Aurélie Gouronc, Peter Kühnen, Johanne Le Beyec, Louis Lebreton, David Meeker, Hermann L. Müller, Jean Muller, Christine Poitou, Patrick Sleiman, Christian Vaisse, Martin Wabitsch, Jacques Young, Hélène Dollfus   +19 more
wiley   +1 more source

An inducible CiliaGFP mouse model for in vivo visualization and analysis of cilia in live tissue [PDF]

, 2013
BACKGROUND: Cilia are found on nearly every cell type in the mammalian body, and have been historically classified as either motile or immotile. Motile cilia are important for fluid and cellular movement; however, the roles of non-motile or primary cilia
Amber K O’Connor, Bradley K Yoder, Courtney J Haycraft, Erik B Malarkey, Mandy J Croyle, Nicolas F Berbari, O’Connor, Amber K, P Darwin Bell, Peter Hohenstein, Robert A Kesterson   +9 more
core   +1 more source

Primary Cilia Orchestrate Cardiac Pathogenesis: A Central Nexus of Remodeling, Signaling, and Repair

Cell Proliferation, Volume 58, Issue 10, October 2025.
Roles of primary cilia and the signals they transmit in the development of myocardial fibrogenesis, cardiac hypertrophy, and atrial fibrillation. Left, Fibroblasts can differentiate into myofibroblasts in response to TGF‐β1. TGF‐β1 stimulation via both paracrine action in the heart and exogenous action on primary cultured fibroblasts activated the ...
Yang Yang, Kaidi Ren, Xingjuan Shi, Yi Luan   +3 more
wiley   +1 more source

A clinician's guide to the diagnosis and management of kidney cysts

Internal Medicine Journal, Volume 55, Issue 10, Page 1752-1756, October 2025.
Abstract Kidney cysts are frequently encountered as incidental findings on imaging studies and are typically benign in nature. However, certain cysts exhibit characteristics that may predispose them to malignant transformation. The Bosniak classification, based on contrast‐enhanced computed tomography or magnetic resonance imaging, offers a systematic ...
Kate Brotherton, Bobby Chacko
wiley   +1 more source

Educational paper [PDF]

European Journal of Pediatrics, 2011
Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their environment. Ciliary dysfunction has been shown to underlie a broad range of overlapping, clinically and genetically heterogeneous phenotypes, collectively termed ciliopathies.
openaire   +2 more sources

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source