Results 101 to 110 of about 11,932 (230)

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

Indian Journal of Ophthalmology, 2016
Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them.
Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya   +3 more
doaj   +1 more source

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms [PDF]

, 2016
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases.
Apic, G, Arts, HH, Beales, PL, Betts, MJ, Beyer, T, Blacque, OE, Bolat, E, Boldt, K, Coene, KL, Davis, EE, De Vrieze, E, Dougherty, G, Franco, B, Gibson, TJ, Giles, RH, Gloeckner, CJ, Haidari, K, Hetterschijt, L, Horn, N, Huynen, MA, Iaconis, D, Jenkins, D, Katsanis, N, Kepes, F, Klose, F, Knapp, B, Koutroumpas, K, Kremer, H, Lamers, IJ, Latour, B, Letteboer, SJ, Lu, Q, Mans, DA, Marcelis, CL, Mitic, D, Morleo, M, Nguyen, TM, Omran, H, Oud, MM, Riemersma, M, Rix, S, Roepman, R, Russell, RB, Terhal, PA, Texier, Y, Toedt, G, Ueffing, M, UK10K Rare Diseases Group, Van Beersum, SE, van Dam, TJ, Van Reeuwijk, J, Van Wijk, E, Willer, JR, Wissinger, Y, Wolfrum, U, Wu, KM   +55 more
core  

Ciliopathies: an expanding disease spectrum [PDF]

Pediatric Nephrology, 2011
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal ...
Waters, Aoife M., Beales, Philip L.
openaire   +2 more sources

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies [PDF]

, 2017
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, Rana, Alkuraya, Fowzan S., Almoisheer, Agaadir, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L., Faqeih, Eissa, Hashem, Amal, Holder, Isabel, Lausch, Ekkehart, Mitchison, Hannah M., Schmidts, Miriam, Shaheen, Ranad, Superti-Furga, Andrea   +13 more
core  

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

Ciliopathies [PDF]

New England Journal of Medicine, 2011
Friedhelm, Hildebrandt, Thomas, Benzing, Nicholas, Katsanis   +2 more
openaire   +2 more sources

Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies [PDF]

, 2016
The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration.
Cheetham, ME, Coffey, PJ, Hardcastle, AJ, Jovanovic, K, Lane, A, Parfitt, DA, Ramsden, C   +6 more
core   +1 more source

Combatting renal ciliopathies [PDF]

Cilia, 2012
A hallmark of many ciliopathies are renal cysts, ultimately disrupting kidney architecture and resulting in end-stage renal disease as the most common cause of mortality. Yet despite being the largest demand for renal replacement therapy (ie. dialysis, kidney transplantation) in young patients, the exact etiology of nephronophthisis (NPHP) and ...
openaire   +1 more source

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome [PDF]

, 2015
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development.
Aza-Blac, P, Azam, M, Bertini, E, Boltshauser, E, Borgatti, R, Boustany, RM, Clericuzio, CL, Copeland, B, D Arrigo, S, Dobyns, WB, Dynlacht, BD, Emma, F, Freilinger, M, Gabriel, SB, Gleeson, JG, Heynen, SG, Hildebrandt, F, Hofree, M, Ideker, T, İncecik, F, Johnson, CA, Kim, J, Kim, S, Lee, JE, Mazza, T, Miccinilli, E, Mikati, M, Milisa-Drautz, J, Mirabelli-Badenier, M, Moroni, I, Romani, M, Romaniello, R, Roosing, S, Rosti, RO, Schroth, J, Scott, E, Silhavy, JL, Stanzial, F, Steinlin, M, Strømme, P, Swoboda, KJ, Valente, EM, Valente, EM, Vaux, KK, Zaki, MS   +44 more
core   +7 more sources

Molecular Insights into Outer Dynein Arm Defects in Primary Ciliary Dyskinesia: Involvement of ZMYND10 and GRP78

Cells
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent sinopulmonary infections due to motile cilia defects. The disease is genetically heterogeneous, with abnormalities in structural ciliary proteins.
İlker Levent Erdem, Zeynep Bengisu Kaya, Pergin Atilla, Nagehan Emiralioğlu, Cemil Can Eylem, Emirhan Nemutlu, Uğur Özçelik, Halime Nayır Büyükşahin, Ayşenur Daniş, Elif Karakoç   +9 more
doaj   +1 more source