Search Results - "Jackson, Ian J."

The melanocyte lineage in development and disease by Mort, Richard L, Jackson, Ian J, Patton, E Elizabeth

“…Melanocyte development provides an excellent model for studying more complex developmental processes. Melanocytes have an apparently simple aetiology,…”
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Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability by Morgan, Michael D., Pairo-Castineira, Erola, Rawlik, Konrad, Canela-Xandri, Oriol, Rees, Jonathan, Sims, David, Tenesa, Albert, Jackson, Ian J.

“…Natural hair colour within European populations is a complex genetic trait. Previous work has established that MC1R variants are the principal genetic cause of…”
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Mouse genomic variation and its effect on phenotypes and gene regulation by Keane, Thomas M., Goodstadt, Leo, Danecek, Petr, White, Michael A., Wong, Kim, Yalcin, Binnaz, Heger, Andreas, Agam, Avigail, Slater, Guy, Goodson, Martin, Furlotte, Nicholas A., Eskin, Eleazar, Nellåker, Christoffer, Whitley, Helen, Cleak, James, Janowitz, Deborah, Hernandez-Pliego, Polinka, Edwards, Andrew, Belgard, T. Grant, Oliver, Peter L., McIntyre, Rebecca E., Bhomra, Amarjit, Nicod, Jérôme, Gan, Xiangchao, Yuan, Wei, van der Weyden, Louise, Steward, Charles A., Bala, Sendu, Stalker, Jim, Mott, Richard, Durbin, Richard, Jackson, Ian J., Czechanski, Anne, Guerra-Assunção, José Afonso, Donahue, Leah Rae, Reinholdt, Laura G., Payseur, Bret A., Ponting, Chris P., Birney, Ewan, Flint, Jonathan, Adams, David J.

“…We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten times more variants than previously known. We use these genomes to…”
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Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes by Hall, Emma A, Keighren, Margaret, Ford, Matthew J, Davey, Tracey, Jarman, Andrew P, Smith, Lee B, Jackson, Ian J, Mill, Pleasantine

“…Defects in cilium and centrosome function result in a spectrum of clinically-related disorders, known as ciliopathies. However, the complex molecular…”
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Signatures of diversifying selection in European pig breeds by Wilkinson, Samantha, Lu, Zen H, Megens, Hendrik-Jan, Archibald, Alan L, Haley, Chris, Jackson, Ian J, Groenen, Martien A M, Crooijmans, Richard P M A, Ogden, Rob, Wiener, Pamela

“…Following domestication, livestock breeds have experienced intense selection pressures for the development of desirable traits. This has resulted in a large…”
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A Conditional Zebrafish MITF Mutation Reveals MITF Levels Are Critical for Melanoma Promotion vs. Regression In Vivo by Lister, James A., Capper, Amy, Zeng, Zhiqiang, Mathers, Marie E., Richardson, Jennifer, Paranthaman, Karthika, Jackson, Ian J., Elizabeth Patton, E.

“…The microphthalmia-associated transcription factor (MITF) is the “master melanocyte transcription factor” with a complex role in melanoma. MITF protein levels…”
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Genetic background influences age-related decline in visual and nonvisual retinal responses, circadian rhythms, and sleep by Banks, Gareth, Heise, Ines, Starbuck, Becky, Osborne, Tamzin, Wisby, Laura, Potter, Paul, Jackson, Ian J, Foster, Russell G, Peirson, Stuart N, Nolan, Patrick M

“…Abstract The circadian system is entrained to the environmental light/dark cycle via retinal photoreceptors and regulates numerous aspects of physiology and…”
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The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification by Cross, Sally H, Mckie, Lisa, Hurd, Toby W, Riley, Sam, Wills, Jimi, Barnard, Alun R, Young, Fiona, MacLaren, Robert E, Jackson, Ian J

“…The precise control of eye size is essential for normal vision. TMEM98 is a highly conserved and widely expressed gene which appears to be involved in eye size…”
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Reconciling diverse mammalian pigmentation patterns with a fundamental mathematical model by Mort, Richard L., Ross, Robert J. H., Hainey, Kirsten J., Harrison, Olivia J., Keighren, Margaret A., Landini, Gabriel, Baker, Ruth E., Painter, Kevin J., Jackson, Ian J., Yates, Christian A.

“…Bands of colour extending laterally from the dorsal to ventral trunk are a common feature of mouse chimeras. These stripes were originally taken as evidence of…”
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Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis by Mill, Pleasantine, Lockhart, Paul J., Fitzpatrick, Elizabeth, Mountford, Hayley S., Hall, Emma A., Reijns, Martin A.M., Keighren, Margaret, Bahlo, Melanie, Bromhead, Catherine J., Budd, Peter, Aftimos, Salim, Delatycki, Martin B., Savarirayan, Ravi, Jackson, Ian J., Amor, David J.

“…Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to…”
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A mouse model of brittle cornea syndrome caused by mutation in Zfp469 by Stanton, Chloe M, Findlay, Amy S, Drake, Camilla, Mustafa, Mohammad Z, Gautier, Philippe, McKie, Lisa, Jackson, Ian J, Vitart, Veronique

“…Brittle cornea syndrome (BCS) is a rare recessive condition characterised by extreme thinning of the cornea and sclera. BCS results from loss-of-function…”
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Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss by Chen, Jing, Ingham, Neil, Kelly, John, Jadeja, Shalini, Goulding, David, Pass, Johanna, Mahajan, Vinit B, Tsang, Stephen H, Nijnik, Anastasia, Jackson, Ian J, White, Jacqueline K, Forge, Andrew, Jagger, Daniel, Steel, Karen P

“…Spinster homolog 2 (Spns2) acts as a Sphingosine-1-phosphate (S1P) transporter in zebrafish and mice, regulating heart development and lymphocyte trafficking…”
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P-Rex1 is required for efficient melanoblast migration and melanoma metastasis by Lindsay, Colin R., Lawn, Samuel, Campbell, Andrew D., Faller, William J., Rambow, Florian, Mort, Richard L., Timpson, Paul, Li, Ang, Cammareri, Patrizia, Ridgway, Rachel A., Morton, Jennifer P., Doyle, Brendan, Hegarty, Shauna, Rafferty, Mairin, Murphy, Ian G., McDermott, Enda W., Sheahan, Kieran, Pedone, Katherine, Finn, Alexander J., Groben, Pamela A., Thomas, Nancy E., Hao, Honglin, Carson, Craig, Norman, Jim C., Machesky, Laura M., Gallagher, William M., Jackson, Ian J., Van Kempen, Leon, Beermann, Friedrich, Der, Channing, Larue, Lionel, Welch, Heidi C., Ozanne, Brad W., Sansom, Owen J.

“…Metastases are the major cause of death from melanoma, a skin cancer that has the fastest rising incidence of any malignancy in the Western world. Molecular…”
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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice by Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K, McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M, Schneider, Adele S, Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B, Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J, Gillessen-Kaesbach, Gabriele, Brunner, Han G, Wieczorek, Dagmar, van Bokhoven, Hans, Fitzpatrick, David R

“…Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly…”
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Rac1 Drives Melanoblast Organization during Mouse Development by Orchestrating Pseudopod- Driven Motility and Cell-Cycle Progression by Li, Ang, Ma, Yafeng, Yu, Xinzi, Mort, Richard L., Lindsay, Colin R., Stevenson, David, Strathdee, Douglas, Insall, Robert H., Chernoff, Jonathan, Snapper, Scott B., Jackson, Ian J., Larue, Lionel, Sansom, Owen J., Machesky, Laura M.

“…During embryogenesis, melanoblasts proliferate and migrate ventrally through the developing dermis and epidermis as single cells. Targeted deletion of Rac1 in…”
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HEATR2 plays a conserved role in assembly of the ciliary motile apparatus by Diggle, Christine P, Moore, Daniel J, Mali, Girish, zur Lage, Petra, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Garcia Munoz, Amaya, Halachev, Mihail R, Gautier, Philippe, Yeyati, Patricia L, Bonthron, David T, Carr, Ian M, Hayward, Bruce, Markham, Alexander F, Hope, Jilly E, von Kriegsheim, Alex, Mitchison, Hannah M, Jackson, Ian J, Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P, Mill, Pleasantine

“…Cilia are highly conserved microtubule-based structures that perform a variety of sensory and motility functions during development and adult homeostasis. In…”
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Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice by Tolman, Nicholas G, Balasubramanian, Revathi, Macalinao, Danilo G, Kearney, Alison L, MacNicoll, Katharine H, Montgomery, Christa L, de Vries, Wilhelmine N, Jackson, Ian J, Cross, Sally H, Kizhatil, Krishnakumar, Nair, K Saidas, John, Simon W M

“…Variants in the LIM homeobox transcription factor 1-beta ( ) gene predispose individuals to elevated intraocular pressure (IOP), a key risk factor for…”
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Dominant role of the niche in melanocyte stem-cell fate determination by Nishikawa, Shin-Ichi, Nishimura, Emi K, Jordan, Siobhán A, Oshima, Hideo, Yoshida, Hisahiro, Osawa, Masatake, Moriyama, Mariko, Jackson, Ian J, Barrandon, Yann, Miyachi, Yoshiki

“…Stem cells-which have the capacity to self-renew and generate differentiated progeny-are thought to be maintained in a specific environment known as a niche…”
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Maintenance of distinct melanocyte populations in the interfollicular epidermis by Glover, James D., Knolle, Stefan, Wells, Kirsty L., Liu, Dianbo, Jackson, Ian J., Mort, Richard L., Headon, Denis J.

“…Summary Hair follicles and sweat glands are recognized as reservoirs of melanocyte stem cells (MSCs). Unlike differentiated melanocytes, undifferentiated MSCs…”
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Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation by Handley, Mark T., Carpanini, Sarah M., Mali, Girish R., Sidjanin, Duska J., Aligianis, Irene A., Jackson, Ian J., FitzPatrick, David R.

“…RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a…”
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