Results 91 to 100 of about 11,057 (243)

Mitochondrial control of ciliary gene expression and structure in striatal neurons

The Journal of Physiology, EarlyView.
Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen, Alessandro Chioino, Olivia Zanoletti, Albert Quintana, Elisenda Sanz, Carmen Sandi   +5 more
wiley   +1 more source

Ciliopathies: Genetics in Pediatric Medicine [PDF]

Journal of Pediatric Genetics, 2016
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings.
Machteld M. Oud, Heleen H. Arts, Heleen H. Arts, Ideke J.C. Lamers   +3 more
openaire   +4 more sources

Taking Down the Primary Cilium: Pathways for Disassembly in Differentiating Cells

BioEssays, Volume 47, Issue 11, November 2025.
Primary cilia are developmentally essential subcellular signaling compartments. However, many differentiated cells lack primary cilia, and cilia disassembly in these tissue contexts has been largely overlooked. We highlight several pathways for primary cilia loss and examine how changes in ciliation states could contribute to diverse pathologies ...
Carolyn M. Ott, Saikat Mukhopadhyay
wiley   +1 more source

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister‐Hall Syndrome: A Clinical Report

Molecular Genetics &Genomic Medicine, Volume 13, Issue 10, October 2025.
Pallister‐Hall syndrome: from phenotype to molecular diagnosis. ABSTRACT Background Pallister‐Hall syndrome (PHS) is an extremely rare genetic disorder. It presents as a polymalformative syndrome affecting craniofacial structures, the central nervous system, limbs, various internal organs, and the endocrine system.
Sebastián Bonilla‐Navarrete, Luis Eduardo Prieto, Laura Valentina Carvajal, Jorge Andrés Olave‐Rodríguez, Lisa Ximena Rodriguez‐Rojas, Jose Antonio Nastasi‐Catanese   +5 more
wiley   +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

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

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

Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis

eLife, 2018
Oligomeric assemblies of intraflagellar transport (IFT) particles build cilia through sequential recruitment and transport of ciliary cargo proteins within cilia.
Michael Taschner, Anna Lorentzen, André Mourão, Toby Collins, Grace M Freke, Dale Moulding, Jerome Basquin, Dagan Jenkins, Esben Lorentzen   +8 more
doaj   +1 more source

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, Hyuk Wan Ko, Jinwoong Bok   +6 more
doaj   +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