Results 121 to 130 of about 11,057 (243)

Olfactory loss and dysfunction in ciliopathies: Molecular mechanisms and potential therapies.

Current Medicinal Chemistry, 2019
Background Ciliopathies are a class of inherited pleiotropic genetic disorders in which alterations in cilia assembly, maintenance, and/or function exhibit penetrance in the multiple organ systems. Olfactory dysfunction is one such clinical manifestation
C. Uytingco, W. Green, J. Martens
semanticscholar   +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
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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

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis

Kidney International Reports
Introduction: Primary cilia (PCs) are sensory antennae that are present on the majority of quiescent vertebrate cells where they mediate key signaling during development and in response to environmental stimuli.
Alice Tata, Guillaume Rocha, Marguerite Hureaux, Alice S. Serafin, Esther Porée, Lucie Menguy, Nicolas Goudin, Nicolas Cagnard, Lilian Gréau, Marc Fila, Luis Briseño-Roa, Jean-Philippe Annereau, Sophie Saunier, Alexandre Benmerah   +13 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
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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
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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

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

Using Zebrafish to Study Multiciliated Cell Development and Disease States

Cells
Multiciliated cells (MCCs) serve many important functions, including fluid propulsion and chemo- and mechanosensing. Diseases ranging from rare conditions to the recent COVID-19 global health pandemic have been linked to MCC defects. In recent years, the
Thanh Khoa Nguyen, Sophia Baker, John-Michael Rodriguez, Liana Arceri, Rebecca A. Wingert   +4 more
doaj   +1 more source