Results 71 to 80 of about 1,464 (120)

Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia

Cells
Ciliopathies are disorders that affect primary or secondary cellular cilia or structures associated with ciliary function. Primary cilia (PC) are essential for metabolic regulation and embryonic development, and pathogenic variants in cilia-related genes
Patrícia Quelhas, Diogo Morgado, Jorge dos Santos   +2 more
doaj   +1 more source

Nephronophthisis: A Genetically Diverse Ciliopathy [PDF]

, 2011
Roslyn Simms, Ann Marie Hynes, Lorraine Eley, John A. Sayer   +3 more
openalex   +1 more source

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies [PDF]

, 2011
Carlos Murga‐Zamalloa, Amiya K. Ghosh, Suresh B. Patil, Nathan Reed, Lan Sze Chan, Supriya Davuluri, Johan Peränen, Toby W. Hurd, Rivka A. Rachel, Hemant Khanna   +9 more
openalex   +1 more source

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
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

New functions of B9D2 in tight junctions and epithelial polarity

Scientific Reports
Ciliopathies are a diverse group of disorders resulting from abnormalities in the development or function of multiple organs. While significant research has clarified the role of the primary cilium in transducing numerous signalling pathways, elucidating
Chloe Caenen-Braz, Latifa Bouzhir, Pascale Dupuis-Williams   +2 more
doaj   +1 more source

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

, 2012
Yujie Li, Kun Ling, Jinghua Hu
openalex   +1 more source

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

Combatting renal ciliopathies [PDF]

, 2012
Rachel H. Giles
openalex   +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