Results 121 to 130 of about 12,198 (227)

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  

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum [PDF]

, 2011
Erica E. Davis, Qi Zhang, Qin Liu, Bill H. Diplas, Lisa Davey, Jane Hartley, Corinne Stoetzel, Katarzyna Szymańska, Gokul Ramaswami, Clare V. Logan, Donna M. Muzny, Alice C. Young, David A. Wheeler, Pedro Cruz, Margaret Morgan, Lora Lewis, Praveen F. Cherukuri, Baishali Maskeri, Nancy F. Hansen, James C. Mullikin, Robert W. Blakesley, Gerard G. Bouffard, Gàbor Gyapay, Susanne Rieger, Burkhard Tönshoff, Ilse Kern, Neveen A. Soliman, Thomas J. Neuhaus, Kathryn J. Swoboda, Hülya Kayserili, Tomas E Gallagher, Richard A. Lewis, Carsten Bergmann, Edgar A. Otto, Sophie Saunier, Peter Scambler, Philip L. Beales, Joseph G. Gleeson, Eamonn R. Maher, Tania Attié‐Bitach, Hélène Dollfus, Colin A. Johnson, Eric D. Green, Richard A. Gibbs, Friedhelm Hildebrandt, Eric A. Pierce, Nicholas Katsanis   +46 more
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FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies [PDF]

, 2012
Silvio Alessandro Di Gioia, Stef J.F. Letteboer, Corinne Kostic, Dikla Bandah‐Rozenfeld, Lisette Hetterschijt, Dror Sharon, Yvan Arsenijévic, Ronald Roepman, Carlo Rivolta   +8 more
openalex   +1 more source

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies [PDF]

, 2012
Katarzyna Szymańska, Ian Berry, Clare V. Logan, Simon RR Cousins, Helen Lindsay, Hussain Jafri, Yasmin Raashid, Saghira Malik-Sharif, Bruce Castle, Mushtag Ahmed, Chris Bennett, Ruth Carlton, Colin A. Johnson   +12 more
openalex   +1 more source

Senior- Loken Syndrome – A Ciliopathy

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2014
Senior - Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto - retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of life. Both the patients presented with severe renal failure requiring hemodialysis.
openaire   +4 more sources

The emerging role of Arf/Arl small GTPases in cilia and ciliopathies [PDF]

, 2012
Yujie Li, Kun Ling, Jinghua Hu
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Translational Retinal Research and Therapies. [PDF]

, 2018
The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D, Beltran, William A, Cideciyan, Artur V, Flannery, John G, Hardcastle, Alison J, Jacobson, Samuel G, Sahel, José-Alain, Sieving, Paul A   +7 more
core   +1 more source

Novel links between ciliopathies and FGF-related craniofacial syndromes [PDF]

, 2012
Kathy Liu, JT Tabler, HL Szabo-Rogers, Aida Mesbahi, Christopher Healy, William B. Barrell, Bogdan J. Wlodarczyk, JB Wallingford, Richard H. Finnell   +8 more
openalex   +1 more source

BBS mutations modify phenotypic expression of CEP290-related ciliopathies [PDF]

, 2013
Yan Zhang, Seongjin Seo, Sajag Bhattarai, Kevin Bugge, Charles Searby, Qihong Zhang, Arlene V. Drack, Edwin M. Stone, Val C. Sheffield   +8 more
openalex   +1 more source

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects [PDF]

, 2013
Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Carmel Toomes, Chris F. Inglehearn, Colin A. Johnson   +6 more
openalex   +1 more source