Bardet–Biedl syndrome

по Forsythe, Elizabeth, Beales, Philip L
Опубликовано 2013

Ciliopathies: an expanding disease spectrum

по Waters, Aoife M., Beales, Philip L.
Опубликовано 2011

CILIA2012: Cilia in development and disease

по Mitchison, Hannah M, Beales, Philip L
Опубликовано 2012

Bardet–Biedl syndrome: beyond the cilium

по Tobin, Jonathan L., Beales, Philip L.
Опубликовано в: Pediatr Nephrol (2007)

Restoration of renal function in zebrafish models of ciliopathies

по Tobin, Jonathan L., Beales, Philip L.
Опубликовано в: Pediatr Nephrol (2008)

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay

по Christou-Savina, Sonia, Beales, Philip L., Osborn, Daniel P. S.
Опубликовано в: J Vis Exp (2015)

Managing Bardet–Biedl Syndrome—Now and in the Future

по Forsythe, Elizabeth, Kenny, Joanna, Bacchelli, Chiara, Beales, Philip L.
Опубликовано в: Front Pediatr (2018)

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

по Rix, Suzanne, Calmont, Amelie, Scambler, Peter J., Beales, Philip L.
Опубликовано 2011

Basal body stability and ciliogenesis requires the conserved component Poc1

по Pearson, Chad G., Osborn, Daniel P.S., Giddings, Thomas H., Beales, Philip L., Winey, Mark
Опубликовано 2009

Bardet–Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein

по Su, Xuefeng, Driscoll, Kaitlin, Yao, Gang, Raed, Anas, Wu, Maoqing, Beales, Philip L., Zhou, Jing
Опубликовано 2014

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

по Gagunashvili, Andrey N., Ocaka, Louise, Kelberman, Daniel, Munot, Pinki, Bacchelli, Chiara, Beales, Philip L., Ganesan, Vijeya
Опубликовано в: Hum Genome Var (2019)

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

по Hernandez-Hernandez, Victor, Pravincumar, Priyanka, Diaz-Font, Anna, May-Simera, Helen, Jenkins, Dagan, Knight, Martin, Beales, Philip L.
Опубликовано 2013

The Bardet–Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex

по Cardenas-Rodriguez, Magdalena, Irigoín, Florencia, Osborn, Daniel P.S., Gascue, Cecilia, Katsanis, Nicholas, Beales, Philip L., Badano, Jose L.
Опубликовано 2013

Development of an Automated Imaging Pipeline for the Analysis of the Zebrafish Larval Kidney

по Westhoff, Jens H., Giselbrecht, Stefan, Schmidts, Miriam, Schindler, Sebastian, Beales, Philip L., Tönshoff, Burkhard, Liebel, Urban, Gehrig, Jochen
Опубликовано 2013

Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees

по Katsanis, Nicholas, Lewis, Richard A., Stockton, David W., Mai, Phuong M. T., Baird, Lisa, Beales, Philip L., Leppert, Mark, Lupski, James R.
Опубликовано 1999

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

по Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A., Stanescu, Horia C., Tobin, Jonathan, Beales, Philip L., Kleta, Robert, Bockenhauer, Detlef, Russell, Claire
Опубликовано 2013

Heat shock induces rapid resorption of primary cilia

по Prodromou, Natalia V., Thompson, Clare L., Osborn, Daniel P. S., Cogger, Kathryn F., Ashworth, Rachel, Knight, Martin M., Beales, Philip L., Chapple, J. Paul
Опубликовано 2012

Non-essential role for cilia in coordinating precise alignment of lens fibres

по Sugiyama, Yuki, Shelley, Elizabeth J., Yoder, Bradley K., Kozmik, Zbynek, May-Simera, Helen L., Beales, Philip L., Lovicu, Frank J., McAvoy, John W.
Опубликовано в: Mech Dev (2016)

BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

по Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.
Опубликовано 2002

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

по Renkema, Kirsten Y., Giles, Rachel H., Lilien, Marc R., Beales, Philip L., Roepman, Ronald, Oud, Machteld M., Arts, Heleen H., Knoers, Nine V. A. M.
Опубликовано в: Front Pediatr (2018)