Results 71 to 80 of about 9,301 (255)

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

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

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  

Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis [PDF]

, 2019
X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal organoid
Chang, Chia-Ching, Chen, Shih-Jen, Chien, Yueh, Chiou, Shih-Hwa, Huang, Kang-Chieh, Jane, Wann-Neng, Kuo, Jean-Cheng, Lu, Jyh-Feng, Nguyen, Phan Nguyen Nhi, Peng, Chi-Hsien, Schlaeger, Thorsten M., Shi, Michael, Tran, Audrey A., Tsai, Ping-Hsing, Wahlin, Karl J., Wang, Mong-Lien, Wang, Won-Jing, Yang, Tien-Chun, Yarmishyn, Aliaksandr A.   +18 more
core   +2 more sources

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

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

A Live Cell Imaging‐Compatible Bioreactor for the Interrogation of Cellular Responses to Modulated Flow Conditions

Advanced Science, EarlyView.
An open‐source, low‐cost 3D perfusion system integrating bioprinted scaffolds and live‐imaging overcomes 2D culture limitations. Modeling the cerebrospinal fluid‐filled subarachnoid space, it reveals flow‐dependent focal adhesion kinase activation in meningothelial cells, demonstrating a powerful platform for studying mechanobiology and creating ...
Subashree Srinivasan, Valerie H. Huhle, Claudia C. Bippes, Nina Tanner, Stephan Frank, Hanspeter E. Killer, Corina Kohler, Albert Neutzner   +7 more
wiley   +1 more source

Ciliogenesis and the DNA damage response: A stressful relationship [PDF]

, 2016
Both inherited and sporadic mutations can give rise to a plethora of human diseases. Through myriad diverse cellular processes, sporadic mutations can arise through a failure to accurately replicate the genetic code or by inaccurate separation of ...
Collis, SJ, Johnson, CA
core   +3 more sources