Results 171 to 180 of about 13,378 (282)

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

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

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

, 2012
Yujie Li, Kun Ling, Jinghua Hu
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

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

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

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

, 2009
Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati, Marina V. Kisseleva, Lihadh Al‐Gazali, László Sztriha, Riad Bayoumi, Maha S. Zaki, Alice Abdel Aleem, Rasim Özgür Rosti, Hülya Kayserili, Dominika Swistun, Lesley C. Scott, Enrico Bertini, Eugen Boltshauser, Elisa Fazzi, Lorena Travaglini, Seth J. Field, Stéphanie Gayral, Monique Jacoby, Stéphane Schurmans, Bruno Dallapiccola, Philip W. Majerus, Enza Maria Valente, Joseph G. Gleeson   +24 more
openalex   +2 more sources

The chicken left right organizer has nonmotile cilia which are lost in a stage‐dependent manner in the talpid³ ciliopathy [PDF]

, 2014
Louise A. Stephen, Edward J. Johnson, Gemma M. Davis, Lynn McTeir, Jamie Pinkham, Neema Jaberi, Megan G. Davey   +6 more
openalex   +1 more source

Editorial: Signaling by primary cilia in development and disease

Frontiers in Cell and Developmental Biology, 2023
Sung-Eun Kim, Inna Nechipurenko, Søren Tvorup Christensen   +2 more
doaj   +1 more source