Search Results - "C. M. Black, Graeme"

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial by MacLaren, Robert E, Prof, Groppe, Markus, PhD, Barnard, Alun R, PhD, Cottriall, Charles L, PhD, Tolmachova, Tanya, PhD, Seymour, Len, Prof, Clark, K Reed, PhD, During, Matthew J, Prof, Cremers, Frans P M, Prof, Black, Graeme C M, Prof, Lotery, Andrew J, Prof, Downes, Susan M, FRCOphth, Webster, Andrew R, Prof, Seabra, Miguel C, Prof

“…Summary Background Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort…”
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Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration by Julian, Thomas H, Cooper-Knock, Johnathan, MacGregor, Stuart, Guo, Hui, Aslam, Tariq, Sanderson, Eleanor, Black, Graeme C M, Sergouniotis, Panagiotis I

“…Age-related macular degeneration (AMD) is a leading cause of blindness in the industrialised world and is projected to affect >280 million people worldwide by…”
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Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus by Mitchell, Karen, O'Sullivan, James, Missero, Caterina, Blair, Ed, Richardson, Rose, Anderson, Beverley, Antonini, Dario, Murray, Jeffrey C., Shanske, Alan L., Schutte, Brian C., Romano, Rose-Anne, Sinha, Satrajit, Bhaskar, Sanjeev S., Black, Graeme C.M., Dixon, Jill, Dixon, Michael J.

“…Pterygium syndromes are complex congenital disorders that encompass several distinct clinical conditions characterized by multiple skin webs affecting the…”
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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma by Conte, Ivan, Kristen D. Hadfield, Sara Barbato, Sabrina Carrella, Mariateresa Pizzo, Rajeshwari S. Bhat, Annamaria Carissimo, Marianthi Karali, Louise F. Porter, Jill Urquhart, Sofie Hateley, James O’Sullivan, Forbes D. C. Manson, Stephan C. F. Neuhauss, Sandro Banfi, Graeme C. M. Black

“…Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies,…”
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Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes by Noonan, Kristin M, MacLaughlin, David T, Loscertales, Maria, Robson, Caroline, Walsh, Christopher A, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Russell, Meaghan K, Bieth, Eric, Devriendt, Koen, Liu, Tianming, Chassaing, Nicolas, Teebi, Ahmad, Pober, Barbara R, Black, Graeme C M, Lacombe, Didier, Donahoe, Patricia K, Kantarci, Sibel

“…Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies,…”
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Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth by Hanson, Dan, Murray, Philip G., O'Sullivan, James, Urquhart, Jill, Daly, Sarah, Bhaskar, Sanjeev S., Biesecker, Leslie G., Skae, Mars, Smith, Claire, Cole, Trevor, Kirk, Jeremy, Chandler, Kate, Kingston, Helen, Donnai, Dian, Clayton, Peter E., Black, Graeme C.M.

“…3-M syndrome, a primordial growth disorder, is associated with mutations in CUL7 and OBSL1. Exome sequencing now identifies mutations in CCDC8 as a cause of…”
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Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome by O'Sullivan, James, Bitu, Carolina C., Daly, Sarah B., Urquhart, Jill E., Barron, Martin J., Bhaskar, Sanjeev S., Martelli-Júnior, Hercilio, dos Santos Neto, Pedro Eleuterio, Mansilla, Maria A., Murray, Jeffrey C., Coletta, Ricardo D., Black, Graeme C.M., Dixon, Michael J.

“…Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders of biomineralization resulting from failure of normal…”
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An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis by Jun, Albert S., Meng, Huan, Ramanan, Naren, Matthaei, Mario, Chakravarti, Shukti, Bonshek, Richard, Black, Graeme C.M., Grebe, Rhonda, Kimos, Martha

“…Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal transplantation. FECD is characterized by progressive alterations in endothelial…”
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Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria by O'Driscoll, Mary C., Daly, Sarah B., Urquhart, Jill E., Black, Graeme C.M., Pilz, Daniela T., Brockmann, Knut, McEntagart, Meriel, Abdel-Salam, Ghada, Zaki, Maha, Wolf, Nicole I., Ladda, Roger L., Sell, Susan, D'Arrigo, Stefano, Squier, Waney, Dobyns, William B., Livingston, John H., Crow, Yanick J.

“…Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare autosomal-recessive neurological disorder showing highly characteristic…”
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Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa by 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.

“…Bestrophin-1 is preferentially expressed at the basolateral membrane of the retinal pigmented epithelium (RPE) of the retina. Mutations in the BEST1 gene cause…”
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Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans by 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.

“…We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with…”
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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum by 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.

“…Deletions of chromosome 1q42-q44 have been reported in a variety of developmental abnormalities of the brain, including microcephaly (MIC) and agenesis of the…”
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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance by BURKITT WRIGHT, Emma M. M, SPENCER, Helen L, MADDEN, Colm, DODDS, Annabel, CHANDLER, Kate E, BANKA, Siddharth, AU, Leon, CLAYTON-SMITH, Jill, KHAN, Naz, BIESECKER, Leslie G, WILSON, Meredith, ROHRBACH, Marianne, DALY, Sarah B, COLOMBI, Marina, GIUNTA, Cecilia, BLACK, Graeme C. M, MANSON, Forbes D. C, ZEEF, Leo A. H, URQUHART, Jill, ZOPPI, Nicoletta, BONSHEK, Richard, TOSOUNIDIS, Ioannis, MOHAN, Meyyammai

“…Extreme corneal fragility and thinning, which have a high risk of catastrophic spontaneous rupture, are the cardinal features of brittle cornea syndrome (BCS),…”
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Identification of genomic loci contributing to agenesis of the corpus callosum by O'Driscoll, Mary C., Black, Graeme C. M., Clayton-Smith, Jill, Sherr, Elliott H., Dobyns, William B.

“…Agenesis of the corpus callosum (ACC) is a common brain malformation of variable clinical expression that is seen in many syndromes of various etiologies…”
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Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR by Cehajic-Kapetanovic, Jasmina, Xue, Kanmin, Martinez-Fernandez de la Camara, Cristina, Nanda, Anika, Davies, Alexandra, Wood, Laura J., Salvetti, Anna Paola, Fischer, M. Dominik, Aylward, James W., Barnard, Alun R., Jolly, Jasleen K., Luo, Edmond, Lujan, Brandon J., Ong, Tuyen, Girach, Aniz, Black, Graeme C. M., Gregori, Ninel Z., Davis, Janet L., Rosa, Potyra R., Lotery, Andrew J., Lam, Byron L., Stanga, Paulo E., MacLaren, Robert E.

“…Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in…”
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The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 by 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.

“…3-M syndrome is an autosomal-recessive primordial growth disorder characterized by significant intrauterine and postnatal growth restriction. Mutations in the…”
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Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy by Jalil, Assad, Ivanova, Tsveta, Moussa, George, Parry, Neil R. A., Black, Graeme C. M.

“…Background Voretigene neparvovec (VN) is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. We illustrate,…”
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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature by Crow, Yanick J, Briggs, Tracy A, Rice, Gillian I, Daly, Sarah, Urquhart, Jill, Gornall, Hannah, Bader-Meunier, Brigitte, Baskar, Kannan, Baskar, Shankar, Baudouin, Veronique, Beresford, Michael W, Black, Graeme C M, Dearman, Rebecca J, de Zegher, Francis, Foster, Emily S, Francès, Camille, Hayman, Alison R, Hilton, Emma, Job-Deslandre, Chantal, Kulkarni, Muralidhar L, Le Merrer, Martine, Linglart, Agnes, Lovell, Simon C, Maurer, Kathrin, Musset, Lucile, Navarro, Vincent, Picard, Capucine, Puel, Anne, Rieux-Laucat, Frederic, Roifman, Chaim M, Scholl-Bürgi, Sabine, Smith, Nigel, Szynkiewicz, Marcin, Wiedeman, Alice, Wouters, Carine, Zeef, Leo A H, Casanova, Jean-Laurent, Elkon, Keith B, Janckila, Anthony, Lebon, Pierre

“…We studied ten individuals from eight families showing features consistent with the immuno-osseous dysplasia spondyloenchondrodysplasia. Of particular note was…”
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Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar by Sallah, Shalaw R, Sergouniotis, Panagiotis I, Barton, Stephanie, Ramsden, Simon, Taylor, Rachel L, Safadi, Amro, Kabir, Mitra, Ellingford, Jamie M, Lench, Nick, Lovell, Simon C, Black, Graeme C M

“…Advances in DNA sequencing technologies have revolutionised rare disease diagnostics and have led to a dramatic increase in the volume of available genomic…”
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Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen by 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

“…Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The…”
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