The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

Por Linari, Marco, Ueffing, Marius, Manson, Forbes, Wright, Alan, Meitinger, Thomas, Becker, Jörg
Publicado em 1999

Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1

Por Johnson, Adiv A., Lee, Yong-Suk, Chadburn, Andrew J., Tammaro, Paolo, Manson, Forbes D., Marmorstein, Lihua Y., Marmorstein, Alan D.
Publicado em 2014

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model

Por Uggenti, Carolina, Briant, Kit, Streit, Anne-Kathrin, Thomson, Steven, Koay, Yee Hui, Baines, Richard A., Swanton, Eileithyia, Manson, Forbes D.
Publicado no Dis Model Mech (2016)

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

Por Ramsden, Simon C, Davidson, Alice E, Leroy, Bart P, Moore, Anthony T, Webster, Andrew R, Black, Graeme C M, Manson, Forbes D C
Publicado em 2012

Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

Por Porter, Louise F., Gallego-Pinazo, Roberto, Keeling, Catherine L., Kamieniorz, Martyna, Zoppi, Nicoletta, Colombi, Marina, Giunta, Cecilia, Bonshek, Richard, Manson, Forbes D., Black, Graeme C.
Publicado no Orphanet J Rare Dis (2015)

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

Por Davidson, Alice E., Sergouniotis, Panagiotis I., Burgess-Mullan, Rosemary, Hart-Holden, Nichola, Low, Sancy, Foster, Paul J., Manson, Forbes D.C., Black, Graeme C.M., Webster, Andrew R.
Publicado em 2010

Brittle cornea syndrome: recognition, molecular diagnosis and management

Por Burkitt Wright, Emma MM, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes DC, Black, Graeme CM
Publicado em 2013

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome

Por Porter, Louise F., Galli, Giorgio G., Williamson, Sally, Selley, Julian, Knight, David, Elcioglu, Nursel, Aydin, Ali, Elcioglu, Mustafa, Venselaar, Hanka, Lund, Anders H., Bonshek, Richard, Black, Graeme C., Manson, Forbes D.
Publicado no Hum Mol Genet (2015)

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

Por Hanson, Dan, Murray, Philip G., Sud, Amit, Temtamy, Samia A., Aglan, Mona, Superti-Furga, Andrea, Holder, Sue E., Urquhart, Jill, Hilton, Emma, Manson, Forbes D.C., Scambler, Peter, Black, Graeme C.M., Clayton, Peter E.
Publicado em 2009

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

Por Lechner, Judith, Porter, Louise F., Rice, Aine, Vitart, Veronique, Armstrong, David J., Schorderet, Daniel F., Munier, Francis L., Wright, Alan F., Inglehearn, Chris F., Black, Graeme C., Simpson, David A., Manson, Forbes, Willoughby, Colin E.
Publicado em 2014

RPGR-Associated Retinal Degeneration in Human X-Linked RP and a Murine Model

Por Huang, Wei Chieh, Wright, Alan F., Roman, Alejandro J., Cideciyan, Artur V., Manson, Forbes D., Gewaily, Dina Y., Schwartz, Sharon B., Sadigh, Sam, Limberis, Maria P., Bell, Peter, Wilson, James M., Swaroop, Anand, Jacobson, Samuel G.
Publicado em 2012

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

Por Boland, Elena , Clayton-Smith, Jill , Woo, Victoria G. , McKee, Shane , Manson, Forbes D. C. , Medne, Livija , Zackai, Elaine , Swanson, Eric A. , Fitzpatrick, David , Millen, Kathleen J. , Sherr, Elliott H. , Dobyns, William B. , Black, Graeme C. M. 
Publicado em 2007

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Por Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia
Publicado em 2013

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Por Conte, Ivan, Hadfield, Kristen D., Barbato, Sara, Carrella, Sabrina, Pizzo, Mariateresa, Bhat, Rajeshwari S., Carissimo, Annamaria, Karali, Marianthi, Porter, Louise F., Urquhart, Jill, Hateley, Sofie, O’Sullivan, James, Manson, Forbes D. C., Neuhauss, Stephan C. F., Banfi, Sandro, Black, Graeme C. M.
Publicado no Proc Natl Acad Sci U S A (2015)

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Por Burgess, Rosemary, Millar, Ian D., Leroy, Bart P., Urquhart, Jill E., Fearon, Ian M., De Baere, Elfrida, Brown, Peter D., Robson, Anthony G., Wright, Genevieve A., Kestelyn, Philippe, Holder, Graham E., Webster, Andrew R., Manson, Forbes D.C., Black, Graeme C.M.
Publicado em 2008

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

Por Nishimura, Darryl Y., Baye, Lisa M., Perveen, Rahat, Searby, Charles C., Avila-Fernandez, Almudena, Pereiro, Ines, Ayuso, Carmen, Valverde, Diana, Bishop, Paul N., Manson, Forbes D.C., Urquhart, Jill, Stone, Edwin M., Slusarski, Diane C., Black, Graeme C.M., Sheffield, Val C.
Publicado em 2010

Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Por Kolehmainen, Juha, Wilkinson, Robert, Lehesjoki, Anna-Elina, Chandler, Kate, Kivitie-Kallio, Satu, Clayton-Smith, Jill, Träskelin, Ann-Liz, Waris, Laura, Saarinen, Anne, Khan, Jabbar, Gross-Tsur, Varda, Traboulsi, Elias I., Warburg, Mette, Fryns, Jean-Pierre, Norio, Reijo, C. M. Black, Graeme, D. C. Manson, Forbes
Publicado em 2004

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

Por Davidson, Alice E., Millar, Ian D., Urquhart, Jill E., Burgess-Mullan, Rosemary, Shweikh, Yusrah, Parry, Neil, O'Sullivan, James, Maher, Geoffrey J., McKibbin, Martin, Downes, Susan M., Lotery, Andrew J., Jacobson, Samuel G., Brown, Peter D., Black, Graeme C.M., Manson, Forbes D.C.
Publicado em 2009

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Por Burkitt Wright, Emma M.M., Spencer, Helen L., Daly, Sarah B., Manson, Forbes D.C., Zeef, Leo A.H., Urquhart, Jill, Zoppi, Nicoletta, Bonshek, Richard, Tosounidis, Ioannis, Mohan, Meyyammai, Madden, Colm, Dodds, Annabel, Chandler, Kate E., Banka, Siddharth, Au, Leon, Clayton-Smith, Jill, Khan, Naz, Biesecker, Leslie G., Wilson, Meredith, Rohrbach, Marianne, Colombi, Marina, Giunta, Cecilia, Black, Graeme C.M.
Publicado em 2011

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Por Burkitt Wright, Emma M.M., Spencer, Helen L., Daly, Sarah B., Manson, Forbes D.C., Zeef, Leo A.H., Urquhart, Jill, Zoppi, Nicoletta, Bonshek, Richard, Tosounidis, Ioannis, Mohan, Meyyammai, Madden, Colm, Dodds, Annabel, Chandler, Kate E., Banka, Siddharth, Au, Leon, Clayton-Smith, Jill, Khan, Naz, Biesecker, Leslie G., Wilson, Meredith, Rohrbach, Marianne, Colombi, Marina, Giunta, Cecilia, Black, Graeme C.M.
Publicado em 2011