Results 21 to 30 of about 12,422 (262)

Motile ciliopathies

Nature Reviews Disease Primers, 2020
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of
Wallmeier, Julia, Nielsen, Kim G., Kuehni, Claudia E., Lucas, Jane, Leigh, Margaret W., Zariwala, Maimoona A., Omran, Heymut   +6 more
openaire   +6 more sources

CPLANE Complex and Ciliopathies

Biomolecules, 2022
Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP) and the Hedgehog (Hh) signaling pathway.
Jesús Eduardo Martín-Salazar, Diana Valverde   +1 more
openaire   +4 more sources

The nonmotile ciliopathies [PDF]

Genetics in Medicine, 2009
Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field,
Jonathan L. Tobin, Philip L. Beales
openaire   +3 more sources

CiliOPD: a ciliopathy-associated COPD endotype

Respiratory Research, 2021
The pathophysiology of chronic obstructive pulmonary disease (COPD) relies on airway remodelling and inflammation. Alterations of mucociliary clearance are a major hallmark of COPD caused by structural and functional cilia abnormalities.
Jeanne-Marie Perotin, Myriam Polette, Gaëtan Deslée, Valérian Dormoy   +3 more
doaj   +1 more source

Ciliopathies in pediatric endocrinology

Annals of Pediatric Endocrinology & Metabolism, 2023
Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects. Identification of new genes and mutations is the major challenge in development of a tailored and appropriate therapy.
Ilenia Cicolini, Annalisa Blasetti, Francesco Chiarelli   +2 more
openaire   +3 more sources

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   +1 more source

IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1

Cell & Bioscience, 2023
Background The cilia are microtubule-based organelles that protrude from the cell surface. Abnormalities in cilia result in various ciliopathies, including polycystic kidney disease (PKD), Bardet-Biedl syndrome (BBS), and oral-facial-digital syndrome ...
Hye In Ka, Mina Cho, Seung-Hae Kwon, Se Hwan Mun, Sora Han, Min Jung Kim, Young Yang   +6 more
doaj   +1 more source

Rare Case of Laurence-Moon-Bardet-Biedl Syndrome With Pulmonary Hypertension: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Laurence‐Moon‐Bardet‐Biedl Syndrome is a complicated polygenic disorder that can have lethal manifestations such as pulmonary hypertension. Early recognition, comprehensive medical treatment, and psychological intervention for the family are crucial, but survival is usually short in those with a poor functional status and increasingly impaired
Mehmood AM, Hassan SMS, Malik A, Faizan M, Shabbir MUB, Jabeen A, Khan A, Kamal A.   +7 more
europepmc   +2 more sources

PIH1D3-knockout rats exhibit full ciliopathy features and dysfunctional pre-assembly and loading of dynein arms in motile cilia

Frontiers in Cell and Developmental Biology, 2023
Background: Recessive mutation of the X-linked gene, PIH1 domain-containing protein 3 (PIH1D3), causes familial ciliopathy. PIH1D3 deficiency is associated with the defects of dynein arms in cilia, but how PIH1D3 specifically affects the structure and ...
Tingting Zhang, Tingting Zhang, Shiquan Cui, Shiquan Cui, Xinrui Xiong, Xinrui Xiong, Ying Liu, Ying Liu, Qilin Cao, Qilin Cao, Xu-Gang Xia, Xu-Gang Xia, Hongxia Zhou, Hongxia Zhou   +13 more
doaj   +1 more source

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   +1 more source