Results 81 to 90 of about 16,795 (294)

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

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

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

WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99013/1/cge12196 ...
Arthurs, P, Coussa, R G, Faingold, R, Fu, Q, Gee, H‐y, Hildebrandt, F, Keser, V, Khan, A, Koenekoop, R K, Lopez, I, Majewski, J, Otto, E A, Ren, H, Schwartzentruber, J   +13 more
core   +1 more source

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
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

A role for Gle1, a regulator of DEAD-box RNA helicases, at centrosomes and basal bodies. [PDF]

, 2017
Control of organellar assembly and function is critical to eukaryotic homeostasis and survival. Gle1 is a highly conserved regulator of RNA-dependent DEAD-box ATPase proteins, with critical roles in both mRNA export and translation.
Akef, Abdalla, Jao, Li-En, Wente, Susan R   +2 more
core   +1 more source

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

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis

Frontiers in Cell and Developmental Biology, 2021
Nephronophthisis (NPH) is an autosomal recessive ciliopathy and a major cause of end-stage renal disease in children. The main forms, juvenile and adult NPH, are characterized by tubulointerstitial fibrosis whereas the infantile form is more severe and ...
M. Stokman, S. Saunier, A. Benmerah
semanticscholar   +1 more source