Results 71 to 80 of about 12,876 (273)

Case series: Joubert syndrome and eosinophilic esophagitis

JPGN Reports, EarlyView.
Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening, Stephanie Leon‐Paredes, Eric Chiou, Vibha Szafron, Anthony Olive, Sara Anvari   +5 more
wiley   +1 more source

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes [PDF]

, 2017
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to ...
Aral, B, Argente, J, Attie-Bitach, T, Baumann, C, Birnbaum, D, Blacque, OE, Bongers, E, Bruel, A-L, Burglen, L, Chevrier, V, Cormier-Daire, V, David, A, Deleuze, J-F, Desguerres, I, Dieux, A, Doray, B, Doummar, D, Duffourd, Y, Eguether, T, Faivre, L, Fargeot-Espaliat, A, Franco, B, Gaillard, D, Gigot, N, Gilbert-Dussardier, B, Giles, RH, Goldenberg, A, Goldstein, JS, Herranz-Pérez, V, Huynen, MA, Jego, L, Johnson, CA, Leroux, MR, Loget, P, Lopez, E, Morleo, M, Mégarbané, A, Nachury, MV, Panigrahi, I, Pasquier, L, Pazour, GJ, Phadke, SR, Pierquin, G, Reversade, B, Rivière, J-B, Rosnet, O, Saunier, S, St-Onge, J, Steichen-Gersdorf, E, Thauvin-Robinet, C, Thevenon, J, Wallingford, JB   +51 more
core   +3 more sources

Therapeutic potential of tetrahydroxylated bile acids in reducing liver injury: Insights from the Zfyve19−/− mouse model

Pediatric Investigation, EarlyView.
THBA (3α,6α,7α,12α‐Tetrahydroxy‐10β,13β‐pentanoic acid) administration can alleviate cholestatic liver injury, hepatocellular necrosis, inflammatory response, bile duct hyperplasia, and portal fibrosis in the Zfyve19−/− mouse model. This evaluation encompasses various parameters, including serum biochemistry, liver histology, immunostaining, and ...
Li Wang, Yue Yu, Jiayan Feng, Yanan Zhang, Renxue Wang, Huiyu She, Teng Liu, Victor Ling, Jianshe Wang   +8 more
wiley   +1 more source

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

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton [PDF]

, 2013
Planar cell polarity (PCP) regulates cell alignment required for collective cell movement during embryonic development. This requires PCP/PCP effector proteins, some of which also play essential roles in ciliogenesis, highlighting the long-standing ...
Adam V. Kwiatkowski, AJ Ross, B Schermer, Bishwanath Chatterjee, C Cui, C Jones, C Jones, C Stuckenholz, CB Kimmel, CD Nobes, Cecilia W. Lo, Chandrakala Puligilla, Cheng Cui, CJ Haycraft, CU Stirnimann, CW Sipe, D Huangfu, D Huangfu, D Yelon, Deanne Francis, E Joo, EK Vladar, Elias T. Spiliotis, F Hildebrandt, GJ Pazour, Gregory J. Pazour, Hisato Yagi, HM Phillips, HM Phillips, I Drummond, J Magdalena, J Wang, J Wang, JB Wallingford, JB Wallingford, JL Badano, Jovenal T. San Agustin, K Schmidt, K Takemaru, KC Corbit, KC Corbit, Lisa M. Swanhart, M Castori, M Fliegauf, M Kelly, M Kinoshita, M Montcouquiol, M Simons, Matthew P. Scott, Matthew W. Kelley, Neil A. Hukriede, Q Hu, Q Yu, Qing Yu, R Rohatgi, RA Meseroll, Richard J. Francis, RJ Francis, Rocky Tuan, S Collier, S Maretto, S Saburi, SD Weatherbee, SK Kim, Subramaniam Sanker, T Caspary, T Kudoh, Tania Chatterjee, Terry Tansey, Thomas P. Lozito, TJ Park, X Wen, Xiaoqin Liu, Y Wang, Zhen Zhang   +74 more
core   +4 more sources

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis

Epilepsia, EarlyView.
Abstract Objective Genetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are ...
Ashwini Mushunuri, Oluyomi Adesoji, Roland Krause, Patrick May, Holger Lerche, Albert Becker, Daniela Grimm, International League Against Epilepsy Consortium on Complex Epilepsies, Michael Nothnagel, Herbert Schulz   +9 more
wiley   +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

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

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

Novel biomarkers of ciliary extracellular vesicles interact with ciliopathy and Alzheimer’s associated proteins

Communicative & Integrative Biology, 2021
Ciliary extracellular vesicles (ciEVs), released from primary cilia, contain functional proteins that play an important role in cilia structure and functions.
Ashraf M. Mohieldin, Amal Alachkar, John Yates, Surya M. Nauli   +3 more
doaj   +1 more source