Results 61 to 70 of about 16,529 (304)

On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies

Frontiers in Cell and Developmental Biology, 2021
Ciliopathies are a group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle involved in a broad range of cellular functions. Most ciliopathies are syndromic, since several organs whose
Laura Sánchez-Bellver, Laura Sánchez-Bellver, Vasileios Toulis, Vasileios Toulis, Gemma Marfany, Gemma Marfany, Gemma Marfany   +6 more
doaj   +1 more source

Sperm dysfunction and ciliopathy [PDF]

Reproductive Medicine and Biology, 2015
AbstractSperm motility is driven by motile cytoskeletal elements in the tail, called axonemes. The structure of axonemes consists of 9 + 2 microtubules, molecular motors (dyneins), and their regulatory structures. Axonemes are well conserved in motile cilia and flagella through eukaryotic evolution.
Kazuo, Inaba, Katsutoshi, Mizuno
openaire   +2 more sources

Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function.

PLoS Genetics, 2016
Zfp423 encodes a 30-zinc finger transcription factor that intersects several canonical signaling pathways. Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and ...
Chen-Jei Hong, Bruce A Hamilton
doaj   +1 more source

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

Human Genetics, 2021
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic ...
M. Al-Hamed, W. Kurdi, R. Khan, M. Tulbah, M. Alnemer, Nada Alsahan, Maisoon Almugbel, Rafiullah Rafiullah, M. Assoum, D. Monies, Zeeshan Shah, Z. Rahbeeni, Nada Derar, F. Hakami, Gawaher Almutairi, Afaf Alotaibi, Wafa Ali, Amal AlShammasi, Wardah AlMubarak, Samia AlDawoud, Saja AlAmri, B. Saeed, Hanifah Bukhari, Mohannad Ali, Rana Akili, Laila Alquayt, S. Hagos, Hadeel Elbardisy, A. Akilan, Nora Almuhana, A. Alkhalifah, M. Abouelhoda, K. Ramzan, J. Sayer, F. Imtiaz   +34 more
semanticscholar   +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

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

Basal body stability and ciliogenesis requires the conserved component Poc1 [PDF]

, 2009
Centrioles are the foundation for centrosome and cilia formation. The biogenesis of centrioles is initiated by an assembly mechanism that first synthesizes the ninefold symmetrical cartwheel and subsequently leads to a stable cylindrical microtubule ...
Abal, Andersen, Avidor-Reiss, Azimzadeh, Badano, Bakowska, Balczon, Baron, Basmussen, Basto, Beisson, Berbari, Blachon, Bobinnec, Bobinnec, Broadhead, Brown, Bruns, Chad G. Pearson, Cheeseman, Culver, Dammermann, Dammermann, Daniel P.S. Osborn, Dupuis-Williams, Dutcher, Dutcher, Dutcher, Eddé, Eggenschwiler, Essner, Fry, Gaertig, Garreau de Loubresse, Gerdes, Graser, Gundersen, Hai, Hames, Hentschel, Hildebrandt, Hiraki, Jerka-Dziadosz, Kaczanowski, Keller, Keller, Kilburn, Kirkham, Kochanski, Le Clech, Leidel, Leidel, Leidel, Li, Liu, Mark Winey, Marshall, Marshall, Martinez-Campos, Matsuura, Million, Mottier-Pavie, Nakazawa, Nanney, Neuhauss, Orias, Paoletti, Pearson, Pearson, Pelletier, Peterkin, Philip L. Beales, Piperno, Rodrigues-Martins, Salisbury, Shang, Shang, Stemm-Wolf, Strnad, Thomas H. Giddings, Tobin, Tobin, Vladar, Westerfield, Wilkinson, Williams, Wloga, Woodland   +87 more
core   +2 more sources

Strain-Dependent Modifier Genes Determine Survival in Zfp423 Mice

G3: Genes, Genomes, Genetics, 2020
Zfp423 encodes a transcriptional regulatory protein that interacts with canonical signaling and lineage pathways. Mutations in mouse Zfp423 or its human ortholog ZNF423 are associated with a range of developmental abnormalities reminiscent of ...
Wendy A. Alcaraz, Zheng Liu, Phoebe Valdes, Edward Chen, Alan G. Valdovino Gonzalez, Shelby Wade, Cinny Wong, Eunnie Kim, Hsiang-Hua M. Chen, Alison Ponn, Dorothy Concepcion, Bruce A. Hamilton   +11 more
doaj   +1 more source

Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis

Frontiers in Molecular Biosciences, 2023
Background: Primary ciliary dyskinesia (PCD; MIM 242650) is a rare genetic disorder characterized by malfunction of the motile cilia resulting in reduced mucociliary clearance of the airways.
Andre Schramm, Johanna Raidt, Anika Gross, Maik Böhmer, Achim Georg Beule, Heymut Omran   +5 more
doaj   +1 more source

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]

, 2017
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia, Dardis, Andrea, DE STEFANO, Maria Egle, Dragotto, Jessica, Erickson, Robert P., Fiorenza, Maria Teresa, Mangia, Franco, Zampieri, Stefania   +7 more
core   +1 more source