Results 61 to 70 of about 9,541 (228)

Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy

Cells, 2020
Ciliopathies are a group of human genetic disorders associated with mutations that give rise to the dysfunction of primary cilia. Ciliogenesis-associated kinase 1 (CILK1), formerly known as intestinal cell kinase (ICK), is a conserved serine and ...
Eric J. Wang, Casey D. Gailey, David L. Brautigan, Zheng Fu   +3 more
doaj   +1 more source

BubR1 Insufficiency Drives Transcriptomic Alterations and Pathology Associated With Cardiac Aging and Heart Failure

Aging Cell, EarlyView.
Transcriptomic and cellular analyses of BubR1 hypomorphic hearts reveal disruptions in key pathways and upregulation of markers linked to impaired cardiac structure and function. Comparative transcriptomic analysis shows that BubR1 insufficiency mirrors changes seen in aged and failing hearts. A key finding of this study is that BubR1 levels decline in
Renju Pun, Aliya L. Haas, Aradhana Thapa, Sylar R. Takafuji, Rexton M. Suzuki, Gabrielle F. Kay, Li Zheng, Michelle Waknitz, Michael H. Kim, Darren J. Baker, Jan M. van Deursen, Paul L. Sorgen, Rebekah L. Gundry, Brian J. North   +13 more
wiley   +1 more source

Effects of the novel formin INF1 on ciliogenesis [PDF]

Cilia, 2015
Objective INF1 is a novel member of the formin family of cytoskeletal regulatory proteins. We previously identified a connection between INF1 expression and microtubule acetylation and more recently have found that INF1 expression induces Golgi dispersion.
C Tenneson, John W. Copeland, W Kulacz, S Copeland   +3 more
openaire   +2 more sources

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Nature Communications
WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake   +57 more
doaj   +1 more source

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

Cell Reports, 2017
Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD).
Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A. English, Elizabeth M. Semler, Jacklyn Mahgerefteh, Artur V. Cideciyan, Tiansen Li, Brian P. Brooks, Meral Gunay-Aygun, Samuel G. Jacobson, Tiziana Cogliati, Christopher J. Westlake, Anand Swaroop   +14 more
doaj   +1 more source

Investigating the Role of the microRNA-34/449 Family in Male Infertility: A Critical Analysis and Review of the Literature

Frontiers in Endocrinology, 2021
There is a great body of evidence suggesting that in both humans and animal models the microRNA-34/449 (miR-34/449) family plays a crucial role for normal testicular functionality as well as for successful spermatogenesis, regulating spermatozoa ...
Konstantinos Pantos, Sokratis Grigoriadis, Sokratis Grigoriadis, Penelope Tomara, Ioanna Louka, Evangelos Maziotis, Evangelos Maziotis, Agni Pantou, Agni Pantou, Nikolaos Nitsos, Terpsithea Vaxevanoglou, Georgia Kokkali, Ashok Agarwal, Konstantinos Sfakianoudis, Mara Simopoulou, Mara Simopoulou   +15 more
doaj   +1 more source

Essential role of Cenexin1, but not Odf2, in ciliogenesis [PDF]

Cell Cycle, 2013
Primary cilia are microtubule-based solitary sensing structures on the cell surface that play crucial roles in cell signaling and development. Abnormal ciliary function leads to various human genetic disorders, collectively known as ciliopathies.
Hyong Joo Lee, Bo Yeon Kim, Ki Won Lee, Jeong K. Bang, Sang Gwon Seo, Kyung S. Lee, Jung-Eun Park, Kyung Ho Lee, Jaerak Chang, Raymond L. Erikson, Kunio Nagashima   +10 more
openaire   +2 more sources

Short coiled‐coil proteins from plants and metazoans – the ‘jacks of all trades’

The FEBS Journal, EarlyView.
Short coiled‐coil proteins from plants and metazoans—true ‘jacks of all trades’—play supporting but crucial roles in cellular stress response, metabolism, autophagy, and membrane dynamics. Despite their small size and modest sequence conservation, proteins like plant LSUs and metazoan SCOCs showcase remarkable functional versatility shaped by evolution,
Agnieszka Sirko, Jarosław Poznański, Marzena Sieńko   +2 more
wiley   +1 more source

Transcriptome sequencing reveals altered ciliogenesis under hypoxia in nasal epithelial cells from chronic rhinosinusitis with nasal polyps

Clinical and Translational Allergy, 2022
Background Hypoxia is considered a key factor in the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNP). However, the specific mechanism driving polypogenesis under hypoxic conditions is unclear. This study aimed to explore hypoxia‐induced
Jian Jiao, Puqi Hu, Mengyan Zhuang, Ying Li, Chao Cai, Xiangdong Wang, Luo Zhang   +6 more
doaj   +1 more source