Search Results - "Brown, SDM"

Dynein mutations impair autophagic clearance of aggregate-prone proteins by Rubinsztein, David C, Ravikumar, Brinda, Acevedo-Arozena, Abraham, Imarisio, Sara, Berger, Zdenek, Vacher, Coralie, O'Kane, Cahir J, Brown, Steve D M

“…Mutations that affect the dynein motor machinery are sufficient to cause motor neuron disease. It is not known why there are aggregates or inclusions in…”
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Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans by Keays, David A., Tian, Guoling, Poirier, Karine, Huang, Guo-Jen, Siebold, Christian, Cleak, James, Oliver, Peter L., Fray, Martin, Harvey, Robert J., Molnár, Zoltán, Piñon, Maria C., Dear, Neil, Valdar, William, Brown, Steve D.M., Davies, Kay E., Rawlins, J. Nicholas P., Cowan, Nicholas J., Nolan, Patrick, Chelly, Jamel, Flint, Jonathan

“…The development of the mammalian brain is dependent on extensive neuronal migration. Mutations in mice and humans that affect neuronal migration result in…”
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Impaired Synaptic Plasticity and Motor Learning in Mice with a Point Mutation Implicated in Human Speech Deficits by Groszer, Matthias, Keays, David A., Deacon, Robert M.J., de Bono, Joseph P., Prasad-Mulcare, Shweta, Gaub, Simone, Baum, Muriel G., French, Catherine A., Nicod, Jérôme, Coventry, Julie A., Enard, Wolfgang, Fray, Martin, Brown, Steve D.M., Nolan, Patrick M., Pääbo, Svante, Channon, Keith M., Costa, Rui M., Eilers, Jens, Ehret, Günter, Rawlins, J. Nicholas P., Fisher, Simon E.

“…The most well-described example of an inherited speech and language disorder is that observed in the multigenerational KE family, caused by a heterozygous…”
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Multiscale alterations in bone matrix quality increased fragility in steroid induced osteoporosis by Karunaratne, A, Xi, L, Bentley, L, Sykes, D, Boyde, A, Esapa, C.T, Terrill, N.J, Brown, S.D.M, Cox, R.D, Thakker, R.V, Gupta, H.S

“…Abstract A serious adverse clinical effect of glucocorticoid steroid treatment is secondary osteoporosis, enhancing fracture risk in bone. This rapid increase…”
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Bone matrix development in steroid-induced osteoporosis is associated with a consistently reduced fibrillar stiffness linked to altered bone mineral quality by Xi, L., De Falco, P., Barbieri, E., Karunaratne, A., Bentley, L., Esapa, C.T., Terrill, N.J., Brown, S.D.M., Cox, R.D., Davis, G.R., Pugno, N.M., Thakker, R.V., Gupta, H.S.

“…[Display omitted] Glucocorticoid-induced osteoporosis (GIOP) is a major secondary form of osteoporosis, with the fracture risk significantly elevated – at…”
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Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse by Curtin, John A., Quint, Elizabeth, Tsipouri, Vicky, Arkell, Ruth M., Cattanach, Bruce, Copp, Andrew J., Henderson, Deborah J., Spurr, Nigel, Stanier, Philip, Fisher, Elizabeth M., Nolan, Patrick M., Steel, Karen P., Brown, Steve D.M., Gray, Ian C., Murdoch, Jennifer N.

“…We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments…”
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EMPReSS: standardized phenotype screens for functional annotation of the mouse genome by Brown, S D M, Chambon, P, de Angelis, M Hrabé

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Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: Evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging by Karunaratne, Angelo, Esapa, Christopher R, Hiller, Jennifer, Boyde, Alan, Head, Rosie, Bassett, JH Duncan, Terrill, Nicholas J, Williams, Graham R, Brown, Matthew A, Croucher, Peter I, Brown, Steve DM, Cox, Roger D, Barber, Asa H, Thakker, Rajesh V, Gupta, Himadri S

“…Bone diseases such as rickets and osteoporosis cause significant reduction in bone quantity and quality, which leads to mechanical abnormalities. However, the…”
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Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31 by Brown, Steve D M, Mburu, Philomena, Weil, Dominique, Blanchard, Stéphane, Coimbra, Roney S, El-Amraoui, Aziz, Varela, Anabel, Paige, Adam J, Holme, Ralph H, Hardisty, Rachel E, Rump, Andreas, Clay, Jo, Glenister, Pete, Rosenthal, Andre, Steel, Karen P, Petit, Christine, Mustapha, Mirna, Parkinson, Nick, Blanco, Gonzalo, Mallon, Ann-Marie, Rogers, Mike J, Liu, Xue Zhong, Moir, Lee, Perfettini, Isabelle

“…The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner…”
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A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse by Brown, Steve D.M, Nolan, Patrick M, Peters, Jo, Strivens, Mark, Rogers, Derek, Hagan, Jim, Spurr, Nigel, Gray, Ian C, Vizor, Lucie, Brooker, Debra, Whitehill, Elaine, Washbourne, Rebecca, Hough, Tertius, Greenaway, Simon, Hewitt, Mazda, Liu, Xinhong, McCormack, Stefan, Pickford, Karen, Selley, Rachael, Wells, Christine, Tymowska-Lalanne, Zuzanna, Roby, Phil, Glenister, Peter, Thornton, Claire, Thaung, Caroline, Stevenson, Julie-Anne, Arkell, Ruth, Mburu, Philomena, Hardisty, Rachel, Kiernan, Amy, Erven, Alexandra, Steel, Karen P, Voegeling, Stephanie, Guenet, Jean-Louis, Nickols, Carole, Sadri, Ramin, Naase, Mahmood, Isaacs, Adrian, Davies, Kay, Browne, Mick, Fisher, Elizabeth M.C, Martin, Jo, Rastan, Sohaila, Hunter, Jackie

“…As the human genome project approaches completion, the challenge for mammalian geneticists is to develop approaches for the systematic determination of…”
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Genetic analysis of the mouse brain proteome by Krause, Eberhard, Stühler, Kai, Brown, Steve D.M, Marcus, Katrin, Himmelbauer, Heinz, Rastan, Sohaila, Lehrach, Hans, Blüggel, Martin, Nock, Christina, Herrmann, Marion, Klose, Joachim, Schalkwyk, Leonard C, Büssow, Konrad

“…Proteome analysis is a fundamental step in systematic functional genomics. Here we have resolved 8,767 proteins from the mouse brain proteome by large-gel…”
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Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations by Kros, C. J, Marcotti, W, van Netten, S. M, Self, T. J, Libby, R. T, Brown, S. D. M, Richardson, G. P, Steel, K. P

“…Mutations in Myo7a cause hereditary deafness in mice and humans. We describe the effects of two mutations, Myo7a(6J) and Myo7a(4626SB), on mechano-electrical…”
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Bulk morphology and diameter distribution of single-walled carbon nanotubes synthesized by catalytic decomposition of hydrocarbons by Cheng, H.M., Li, F., Sun, X., Brown, S.D.M., Pimenta, M.A., Marucci, A., Dresselhaus, G., Dresselhaus, M.S.

“…Long and wide ropes/ribbons of single-walled carbon nanotube (SWNT) bundles with rope diameters of 100 μm and lengths to 3 cm were synthesized by the catalytic…”
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Isolation and Characterization of Suv39h2, a Second Histone H3 Methyltransferase Gene That Displays Testis-Specific Expression by O'Carroll, Dónal, Scherthan, Harry, Peters, Antoine H. F. M., Opravil, Susanne, Haynes, Andrew R., Laible, Götz, Rea, Stephen, Schmid, Manfred, Lebersorger, Angelika, Jerratsch, Martin, Sattler, Lydia, Mattei, Marie G., Denny, Paul, Brown, Stephen D. M., Schweizer, Dieter, Jenuwein, Thomas

“…Higher-order chromatin has been implicated in epigenetic gene control and in the functional organization of chromosomes. We have recently discovered mouse…”
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Systematic approaches to mouse mutagenesis by Brown, Steve D.M, Balling, Rudi

“…A major challenge in post-genomics is the systematic determination of mammalian gene function. A variety of mouse mutagenesis technologies, both gene- and…”
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Myosin VIIa Participates in Opsin Transport through The Photoreceptor Cilium by Liu, Xinran, Udovichenko, Igor P, Brown, Stephen D.M, Steel, Karen P, Williams, David S

“…Two types of Usher syndrome, a blindness-deafness disorder, result from mutations in the myosin VIIa gene. As for most other unconventional myosins, little is…”
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A gene-driven approach to the identification of ENU mutants in the mouse by Brown, Steve D.M, Coghill, Emma L, Hugill, Alison, Parkinson, Nick, Davison, Claire, Glenister, Peter, Clements, Sian, Hunter, Jackie, Cox, Roger D

“…The construction of parallel archives of DNA and sperm from mice mutagenized with ethylnitrosurea (ENU) represents a potentially powerful and rapid approach…”
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Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment by Rogers, D C, Fisher, E M, Brown, S D, Peters, J, Hunter, A J, Martin, J E

“…For an understanding of the aberrant biology seen in mouse mutations and identification of more subtle phenotype variation, there is a need for a full clinical…”
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Surface-enhanced and normal stokes and anti-stokes Raman spectroscopy of single-walled carbon nanotubes by Kneipp, K, Kneipp, H, Corio, P, Brown, S D, Shafer, K, Motz, J, Perelman, L T, Hanlon, E B, Marucci, A, Dresselhaus, G, Dresselhaus, M S

“…Surface enhancement factors of at least 10(12) for the Raman scattering of single-walled carbon nanotubes in contact with fractal silver colloidal clusters…”
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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population by XIAO MEI OUYANG, YAN, Denise, BROWN, Steve D. M, BALKANY, Thomas, XUE ZHONG LIU, LI LIN DU, FIELDING HEJTMANCIK, J, JACOBSON, Samuel G, NANCE, Walter E, LI, An Ren, ANGELI, Simon, KAISER, Muriel, NEWTON, Valerie

“…Usher syndrome type I (USH1), the most severe form of this syndrome, is characterized by profound congenital sensorineural deafness, vestibular dysfunction,…”
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