Results 51 to 60 of about 12,076 (219)

A role for Tctex-1 (DYNLT1) in controlling primary cilium length [PDF]

, 2011
The microtubule motor complex cytoplasmic dynein is known to be involved in multiple processes including endomembrane organization and trafficking, mitosis, and microtubule organization.
MacCarthy-Morrogh, LJ, Miss Nicola, Smyllie, Palmer, KJ, Stephens, DJ   +3 more
core   +2 more sources

Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]

, 2019
Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M, Berauer, John‐Paul, Bezerra, Jorge A, Bull, Laura N, Chopra, Pankaj, Cutler, David J, Finegold, Milton J, Gibbs, Richard A, Guthery, Stephen L, Harpavat, Sanjiv, Hegde, Madhuri R, Kamath, Binita M, Karpen, Saul J, Loomes, Kathleen M, Magee, John C, Mezina, Anya I, Molleston, Jean P, Moore, Barry, Murray, Karen F, Muzny, Donna M, Network, for the Childhood Liver Disease Research, Okou, David T, Perlmutter, David H, Rajagopalan, Ramakrishnan, Rosenthal, Philip, Russo, Pierre, Sabo, Aniko, Sherker, Averell H, Sokol, Ronald J, Spinner, Nancy B, Squires, Robert H, Thompson, Richard J, Wang, Kasper S, Yandell, Mark   +33 more
core   +2 more sources

Pharmacological intervention of the FGF–PTH axis as a potential therapeutic for craniofacial ciliopathies

Disease Models & Mechanisms, 2022
Ciliopathies represent a disease class characterized by a broad range of phenotypes including polycystic kidneys and skeletal anomalies. Ciliopathic skeletal phenotypes are among the most common and most difficult to treat due to a poor understanding of ...
Christian Louis Bonatto Paese, Ching-Fang Chang, Daniela Kristeková, Samantha A. Brugmann   +3 more
doaj   +1 more source

Heat shock induces rapid resorption of primary cilia [PDF]

, 2012
Primary cilia are involved in important developmental and disease pathways, such as the regulation of neurogenesis and tumorigenesis. They function as sensory antennae and are essential in the regulation of key extracellular signalling systems.
Anckar, Baker, Berbari, Boyault, Breunig, Caspary, Corbit, Cotto, Davenport, Fliegauf, Gherman, Han, Haycraft, Kültz, Lange, McGlashan, Meimaridou, Nauli, Ng, Nigg, Overgaard, Pedersen, Pugacheva, Quarmby, Rohatgi, Rosenbaum, Schneider, Seeley, Singla, Taipale, Takaki, Weis, Williams   +32 more
core   +1 more source

Cell-cell interaction determines cell fate of mesoderm-derived cell in tongue development through Hh signaling

eLife
Dysfunction of primary cilia leads to genetic disorder, ciliopathies, which shows various malformations in many vital organs such as brain. Multiple tongue deformities including cleft, hamartoma, and ankyloglossia are also seen in ciliopathies, which ...
Maiko Kawasaki, Katsushige Kawasaki, Finsa Tisna Sari, Takehisa Kudo, Jun Nihara, Madoka Kitamura, Takahiro Nagai, Vanessa Utama, Yoko Ishida, Fumiya Meguro, Alex Kesuma, Akira Fujita, Takayuki Nishimura, Yuan Kogure, Satoshi Maruyama, Jun-ichi Tanuma, Yoshito Kakihara, Takeyasu Maeda, Sarah Ghafoor, Roman H Khonsari, Pierre Corre, Paul T Sharpe, Martyn Cobourne, Brunella Franco, Atsushi Ohazama   +24 more
doaj   +1 more source

Accelerated age-related olfactory decline among type 1 Usher patients [PDF]

, 2016
Usher Syndrome (USH) is a rare disease with hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. A phenotype heterogeneity is reported.
António, N, Hummel, T, Oliveiros, B, Paiva, A, Pereira, P, Ribeiro, JC, Silva, E   +6 more
core   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Ciliopathies: an Update [PDF]

Pediatrics Research International Journal, 2015
Cilia are hair-like organelles that extend from the surface of almost all human cells. Nine doublet microtubule pairs make up the core of each cilium, known as the axoneme. Cilia are classified as motile or immotile; non motile or primary cilia are involved in sensing the extracellular environment. These organelles mediate perception of chemo-, mechano-
Alba Faus-Pérez, Amparo Sanchis-Calvo, Pilar Codoñer-Franch   +2 more
openaire   +1 more source

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies

Diagnostics
Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and
Katia Margiotti, Marco Fabiani, Antonella Cima, Antonella Viola, Francesca Monaco, Chiara Alì, Costanza Zangheri, Carmela Abramo, Claudio Coco, Alvaro Mesoraca, Claudio Giorlandino   +10 more
doaj   +1 more source

661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies

Frontiers in Genetics, 2019
The retina contains several ciliated cell types, including the retinal pigment epithelium (RPE) and photoreceptor cells. The photoreceptor cilium is one of the most highly modified sensory cilia in the human body.
Gabrielle Wheway, Gabrielle Wheway, Gabrielle Wheway, Liliya Nazlamova, Liliya Nazlamova, Liliya Nazlamova, Dann Turner, Stephen Cross   +7 more
doaj   +1 more source