Results 51 to 60 of about 9,217 (165)

Investigation of New Ciliopathy Genes

, 2021
Kirpikler, iç yapısında mikrotübüllerden oluşur ve evrimsel olarak anten benzeri bir organel korunmuştur. Kirpik yapısındaki bozuklukların neden olduğu hastalığa siliyopati adı verilir ve Joubert sendromu siliyopatilerden biridir.
Yenisert, Ferhan
core  

Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis

Cell Reports, 2018
Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly understood how ciliopathic mutations affect protein functionality to give rise to the underlying ...
Nimesh Joseph, Caezar Al-Jassar, Christopher M. Johnson, Antonina Andreeva, Deepak D. Barnabas, Stefan M.V. Freund, Fanni Gergely, Mark van Breugel   +7 more
doaj   +1 more source

Growth‐regulating proteins differ between British seawater fish species, shedding light on their ecological adaptations

Journal of Fish Biology, EarlyView.
Abstract Wnt proteins are a family of molecules that help control how cells grow, develop and communicate – processes that are fundamental to the development and health of all animals. Although Wnt pathways have been studied extensively in model species, very little is known about how they operate in marine fish.
Angeliki Maravelia, Soniya Malik, Clare Murcott, Ioannis Batzakas, Paraskevi Goggolidou   +4 more
wiley   +1 more source

Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

, 2020
Correction to "A human ciliopathy reveals essential functions for NEK10 in airway mucociliary ...
Montoro, Daniel T., Frenkel, Evgeni M., Omran, Heymut, Hariri, Lida P., Yang, Jason, Taylor, Martin S., Tearney, Guillermo J., Alkuraya, Fowzan S., Shamseldin, Hanan E., Black, Katharine E., Almogarri, Ibrahim, Vinarsky, Vladimir, Daniels, M. Leigh Anne, Sabatini, David M., Zariwala, Maimoona A., Leung, Hui Min, Dougherty, Gerard W., Chivukula, Raghu R., Sears, Patrick R., Carson, Johnny, Knowles, Michael R.   +20 more
core   +1 more source

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome [PDF]

, 2014
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert
Stefano Castellana, Darra, Francesca, Gouider Khouja, Neziha, Romani, Marta, Mazza, Tommaso, Rosario Ruta, Francesca Darra, DOTTI, MARIA, Castellana, Stefano, Alessia Micalizzi, Dotti, Maria Teresa, Neziha Gouider Khouja, László Sztriha, Ichraf Kraoua, Hanene, Benrhouma, Enza Valente, Micalizzi, Alessia, Sztriha, László, Alíz Zimmermann, Marta Romani, Valente, Enza Maria, Francesca Mancini, Kraoua, Ichraf, Maria Dotti, Mara Cavallin, Neziha Gouider-Khouja, MANCINI, FRANCESCA MARIA, Mancini, Francesca, Adrienn Máté, Zimmermann, Alíz, Tommaso Mazza, Benrhouma Hanene, Ruta, Rosario, Maria Carluccio, Máté, Adrienn, Cavallin, Mara, CARLUCCIO, MARIA ALESSANDRA   +36 more
core   +1 more source

Identification of Important Effector Proteins in the FOXJ1 Transcriptional Network Associated With Ciliogenesis and Ciliary Function

Frontiers in Genetics, 2019
Developmental defects in motile cilia, arising from genetic abnormalities in one or more ciliary genes, can lead to a common ciliopathy known as primary ciliary dyskinesia (PCD). Functional studies in model organisms undertaken to understand PCD or cilia
Ishita Mukherjee, Sudipto Roy, Sudipto Roy, Sudipto Roy, Saikat Chakrabarti   +4 more
doaj   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

Pediatric Dermatology, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith, Eric Sanfilippo, Lara Wine Lee   +2 more
wiley   +1 more source

HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA

Nature Communications
Primary cilia are dynamic sensory organelles orchestrating key signaling pathways, and disruption of primary ciliogenesis is implicated in a spectrum of genetic disorders. The peroxisomal bifunctional enzyme HSD17B4 is pivotal for peroxisomal β-oxidation
Ji-Eun Bae, Soyoung Jang, Joon Bum Kim, Na Yeon Park, Doo Sin Jo, Hyejin Hyung, Pansoo Kim, Min-Seon Kim, Hong-Yeoul Ryu, Hyun-Shik Lee, Dong-Seok Lee, Myriam Baes, Zae Young Ryoo, Dong-Hyung Cho   +13 more
doaj   +1 more source

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

The Ciliopathy Gene Rpgrip1l Is Essential For Hair Follicle Development

, 2014
The primary cilium is essential for skin morphogenesis through regulating the Notch, Wnt, and hedgehog signaling pathways. Prior studies on the functions of primary cilia in the skin were based on the investigations of genes that are essential for cilium
Takemaru, Ken-Ichi, Moncayo, A, Snedecor, Elizabeth R., Li, Li, Li, L, Laclef, C, Laclef, Christine, Schneider-Maunoury, Sylvie, Moncayo, Alejandra, Snedecor, ER, Clark, Richard A., Paus, R, Chen, J, Snedecor, Elizabeth R, Yang, N, Clark, RA., Chen, Jiang, Paus, Ralf, Clark, Richard A, Schneider-Maunoury, S, Takemaru, KI, Yang, Ning   +21 more
core   +1 more source