dchughes's mir [at least 200 articles] Export

Recent papers added to dchughes's library classified by the tag mir. You can also see everyone's mir.

	Clinical and molecular features of Joubert syndrome and related disorders. [My Copy] American journal of medical genetics. Part C, Seminars in medical genetics, Vol. 151C, No. 4. (28 October 2009), pp. 326-340. by Melissa A. Parisi posted to mirs mir jouberts-syndrome cep290 ahi1 by dchughes on 2009-11-05 11:04:06 as
	<I>SMC1A</I> expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome [My Copy] Human Mutation, Vol. 30, No. 11. (2009), pp. 1535-1542. by Jinglan Liu, Rachel Feldman, Zhe Zhang, et al.Matthew A. Deardorff, Eden V. Haverfield, Maninder Kaur, Jennifer R. Li, Dinah Clark, Antonie D. Kline, Darrel J. Waggoner, Soma Das, Laird G. Jackson, Ian D. Krantz posted to smc1 mir by dchughes on 2009-11-04 22:48:55 as
	<I>NR2E3</I> mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP) [My Copy] Human Mutation, Vol. 30, No. 11. (2009), pp. 1475-1485. by Daniel F. Schorderet, Pascal Escher posted to retinitis-pigmentosa retinal-dystrophy retina nr2e3 mir by dchughes on 2009-11-04 22:40:23 as
	Characterization and functional expression of the cDNA encoding human brain quinolinate phosphoribosyltransferase. [My Copy] Biochimica et biophysica acta, Vol. 1395, No. 2. (21 January 1998), pp. 192-201. by S. I. Fukuoka, C. M. Nyaruhucha, K. Shibata posted to qprt mir by dchughes on 2009-11-03 21:53:53 as
	Microduplications of 16p11.2 are associated with schizophrenia [My Copy] Nature Genetics, Vol. 41, No. 11. (25 October 2009), pp. 1223-1227. by Shane E. McCarthy, Vladimir Makarov, George Kirov, et al.Anjene M. Addington, Jon McClellan, Seungtai Yoon, Diana O. Perkins, Diane E. Dickel, Mary Kusenda, Olga Krastoshevsky, Verena Krause, Ravinesh A. Kumar, Detelina Grozeva, Dheeraj Malhotra, Tom Walsh, Elaine H. Zackai, Paige Kaplan, Jaya Ganesh, Ian D. Krantz, Nancy B. Spinner, Patricia Roccanova, Abhishek Bhandari, Kevin Pavon, B. Lakshmi, Anthony Leotta, Jude Kendall, Yoon-ha Lee, Vladimir Vacic, Sydney Gary, Lilia M. Iakoucheva, Timothy J. Crow, Susan L. Christian, Jeffrey A. Lieberman, T. Scott Stroup, Terho Lehtimaki, Kaija Puura, Chad Haldeman-Englert, Justin Pearl, Meredith Goodell, Virginia L. Willour, Pamela DeRosse, Jo Steele, Layla Kassem, Jessica Wolff, Nisha Chitkara, Francis J. McMahon, Anil K. Malhotra, James B. Potash, Thomas G. Schulze, Markus M. Nothen, Sven Cichon, Marcella Rietschel, Ellen Leibenluft, Vlad Kustanovich, Clara M. Lajonchere, James S. Sutcliffe, David Skuse, Michael Gill, Louise Gallagher, Nancy R. Mendell, Nick Craddock, Michael J. Owen, Michael C. O'Donovan, Tamim H. Shaikh, Ezra Susser, Lynn E. DeLisi, Patrick F. Sullivan, Curtis K. Deutsch, Judith Rapoport, Deborah L. Levy, Mary-Claire King, Jonathan Sebat posted to schizophrenia qprt mirs mir by dchughes on 2009-11-03 21:48:37 as along with 2 people vplagnol daforerog
	A palmitoylation switch mechanism in the regulation of the visual cycle. [My Copy] Cell, Vol. 117, No. 6. (11 June 2004), pp. 761-771. by Linlong Xue, Deviprasad R. Gollapalli, Pranab Maiti, Wan Jin J. Jahng, Robert R. Rando posted to retinitis-pigmentosa retinal-dystrophy retina mir lrat by dchughes on 2009-09-29 12:36:15 as along with 1 person zahir85
	Large Arf1 guanine nucleotide exchange factors: evolution, domain structure, and roles in membrane trafficking and human disease [My Copy] Molecular Genetics and Genomics, Vol. 282, No. 4. (1 October 2009), pp. 329-350. by Quynh Bui, Marie-Pierre Golinelli-Cohen, Catherine Jackson posted to mir arhgef6 arhgef17 arhge6 arf6 by dchughes on 2009-09-29 12:23:09 as
	Transcriptional regulation of the murine Presenilin-2 gene reveals similarities and differences to its human orthologue. [My Copy] Gene, Vol. 446, No. 2. (15 October 2009), pp. 81-89. by Hadile Ounallah-Saad, Rachel Beeri, Inbal Goshen, Raz Yirmiya, Paul Renbaum, Ephrat Levy-Lahad posted to psen2 mir alzheimers by dchughes on 2009-09-22 17:21:02 as
	HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS. [My Copy] Nature, Vol. 447, No. 7146. (14 June 2007), pp. 859-863. by Udai Bhan B. Pandey, Zhiping Nie, Yakup Batlevi, et al.Brett A. McCray, Gillian P. Ritson, Natalia B. Nedelsky, Stephanie L. Schwartz, Nicholas A. DiProspero, Melanie A. Knight, Oren Schuldiner, Ranjani Padmanabhan, Marc Hild, Deborah L. Berry, Dan Garza, Charlotte C. Hubbert, Tso-Pang P. Yao, Eric H. Baehrecke, J. Paul Taylor posted to neurodegeneration mir hdac6 by dchughes on 2009-09-21 15:53:38 as along with 2 people inbetweener kieran101
	Secreted gliomedin is a perinodal matrix component of peripheral nerves. [My Copy] The Journal of cell biology, Vol. 177, No. 3. (7 May 2007), pp. 551-562. by Yael Eshed, Konstantin Feinberg, David J. Carey, Elior Peles posted to neuroscience neuropoietic-cytokine neuron mir gliomedin by dchughes on 2009-09-21 13:19:42 as along with 1 person lechristophe
	Collagen XXVIII, a novel von Willebrand factor A domain-containing protein with many imperfections in the collagenous domain. [My Copy] The Journal of biological chemistry, Vol. 281, No. 6. (10 February 2006), pp. 3494-3504. by Guido Veit, Birgit Kobbe, Douglas R. Keene, Mats Paulsson, Manuel Koch, Raimund Wagener posted to neuron mir col28i by dchughes on 2009-09-17 13:50:42 as
	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. [My Copy] Nature genetics, Vol. advance online publication (6 September 2009) by Michael A. van Es, Jan H. Veldink, Christiaan G. Saris, et al.Hylke M. Blauw, Paul W. van Vught, Anna Birve, Robin Lemmens, Helenius J. Schelhaas, Ewout J. Groen, Mark H. Huisman, Anneke J. van der Kooi, Marianne de Visser, Caroline Dahlberg, Karol Estrada, Fernando Rivadeneira, Albert Hofman, Machiel J. Zwarts, Perry T. van Doormaal, Dan Rujescu, Eric Strengman, Ina Giegling, Pierandrea Muglia, Barbara Tomik, Agnieszka Slowik, Andre G. Uitterlinden, Corinna Hendrich, Stefan Waibel, Thomas Meyer, Albert C. Ludolph, Jonathan D. Glass, Shaun Purcell, Sven Cichon, Markus M. Nöthen, H-Erich E. Wichmann, Stefan Schreiber, Sita H. Vermeulen, Lambertus A. Kiemeney, John H. Wokke, Simon Cronin, Russell L. McLaughlin, Orla Hardiman, Katsumi Fumoto, R. Jeroen Pasterkamp, Vincent Meininger, Judith Melki, P. Nigel Leigh, Christopher E. Shaw, John E. Landers, Ammar Al-Chalabi, Robert H. Brown, Wim Robberecht, Peter M. Andersen, Roel A. Ophoff, Leonard H. van den Berg posted to unc13a neuroscience mir amyotrophic-lateral-sclerosis by dchughes on 2009-09-07 12:58:13 as
	Towards understanding CRUMBS function in retinal dystrophies. [My Copy] Human molecular genetics, Vol. 15 Spec No 2 (15 October 2006) by Mélisande Richard, Ronald Roepman, Wendy M. Aartsen, et al.Agnes G. van Rossum, Anneke I. den Hollander, Elisabeth Knust, Jan Wijnholds, Frans P. Cremers posted to retinitis-pigmentosa retinal-dystrophy retina mir crb2 crb1 by dchughes on 2009-09-07 11:15:54 as along with 1 person zahir85
	To localize or not to localize: mRNA fate is in 3′UTR ends [My Copy] Trends in Cell Biology, Vol. 19, No. 9. (26 September 2009), pp. 465-474. by Catia Andreassi, Antonella Riccio posted to mrna-transport mrna-localisation mir dendritic-mrna dendritic-compartment by dchughes on 2009-09-07 11:03:39 as
	Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis. [My Copy] Molecular vision, Vol. 11 (2005), pp. 263-273. by José A. van den Hurk, Penny Rashbass, Ronald Roepman, et al.Jason Davis, Krysta E. Voesenek, Maarten L. Arends, Marijke N. Zonneveld, Marga H. van Roekel, Karen Cameron, Klaus Rohrschneider, John R. Heckenlively, Robert K. Koenekoop, Carel B. Hoyng, Frans P. Cremers, Anneke I. den Hollander posted to retinal-dystrophy retina mir crb2 crb1 by dchughes on 2009-09-07 11:01:27 as
	A mammalian Rho-specific guanine-nucleotide exchange factor (p164-RhoGEF) without a pleckstrin homology domain. [My Copy] The Biochemical journal, Vol. 366, No. Pt 3. (15 September 2002), pp. 721-728. by Ulrich Rümenapp, Andrea Freichel-Blomquist, Burkhard Wittinghofer, Karl H. Jakobs, Thomas Wieland posted to rho-gef rho mir arhgef17 by dchughes on 2009-08-28 13:17:57 as
	Overexpression of type-1 adenylyl cyclase in mouse forebrain enhances recognition memory and LTP. [My Copy] Nature neuroscience, Vol. 7, No. 6. (June 2004), pp. 635-642. by Hongbing Wang, Gregory D. Ferguson, Victor V. Pineda, Paige E. Cundiff, Daniel R. Storm posted to mir memory ltp adcy1 by dchughes on 2009-08-27 17:24:18 as
	Distinct mechanisms of regulation by Ca2+/calmodulin of type 1 and 8 adenylyl cyclases support their different physiological roles. [My Copy] The Journal of biological chemistry, Vol. 284, No. 7. (13 February 2009), pp. 4451-4463. by Nanako Masada, Antonio Ciruela, David A. Macdougall, Dermot M. Cooper posted to mir camkii adcy1 by dchughes on 2009-08-27 17:06:01 as
	Short- and Long-Term Memory in Drosophila Require cAMP Signaling in Distinct Neuron Types [My Copy] Current Biology, Vol. 19, No. 16. (25 August 2009), pp. 1341-1350. by Allison L. Blum, Wanhe Li, Mike Cressy, Josh Dubnau posted to mir memory adcy1 by dchughes on 2009-08-27 16:09:02 as
	Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. [My Copy] Nature genetics, Vol. 25, No. 4. (August 2000), pp. 462-466. by R. Vervoort, A. Lennon, A. C. Bird, et al.B. Tulloch, R. Axton, M. G. Miano, A. Meindl, T. Meitinger, A. Ciccodicola, A. F. Wright posted to rpgr retinitis-pigmentosa retina mir by dchughes on 2009-08-12 14:55:16 as
	Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration [My Copy] The American Journal of Human Genetics, Vol. 79, No. 6. (December 2006), pp. 1059-1070. by J. Friedman, B. Chang, C. Kannabiran, et al.C. Chakarova, H. Singh, S. Jalali, N. Hawes, K. Branham, M. Othman, E. Filippova posted to mir rd3 retinal-dystrophy by dchughes on 2009-08-06 16:58:52 as
	Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa [My Copy] Biochemical and Biophysical Research Communications, Vol. 308, No. 3. (29 August 2003), pp. 414-421. by G. Lavorgna posted to mir rd3 retinal-dystrophy by dchughes on 2009-08-06 16:56:17 as
	Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes. [My Copy] Biochimica et biophysica acta, Vol. 1522, No. 3. (30 December 2001), pp. 167-174. by N. Mah, H. Stoehr, H. L. Schulz, K. White, B. H. Weber posted to f379 mir retina retrotransposition by dchughes on 2009-08-06 15:30:17 as
	Diverse fates of paralogs following segmental duplication of telomeric genes. [My Copy] Genomics, Vol. 84, No. 2. (August 2004), pp. 239-247. by Andrew Wong, Eric J. Vallender, Konstantina Heretis, et al.Yesim Ilkin, Bruce T. Lahn, Christa Lese L. Martin, David H. Ledbetter posted to f379 mir retrotransposon by dchughes on 2009-08-06 15:29:19 as
	Lecithin retinol acyltransferase is a founder member of a novel family of enzymes. [My Copy] Biochemistry, Vol. 42, No. 44. (11 November 2003), pp. 12805-12812. by W. J. Jahng, L. Xue, R. R. Rando posted to lrat mir retina retinal-dystrophy retinitis-pigmentosa by dchughes on 2009-06-15 15:52:24 as
	Localizations of visual cycle components in retinal pigment epithelium. [My Copy] Molecular vision, Vol. 15 (2009), pp. 223-234. by Jing Huang, Daniel E. Possin, John C. Saari posted to lrat mir retina retinal-dystrophy retinitis-pigmentosa by dchughes on 2009-05-30 09:42:28 as
	The regulated retrotransposon transcriptome of mammalian cells [My Copy] Nature Genetics, Vol. 41, No. 5. (19 April 2009), pp. 563-571. by Geoffrey J. Faulkner, Yasumasa Kimura, Carsten O. Daub, et al.Shivangi Wani, Charles Plessy, Katharine M. Irvine, Kate Schroder, Nicole Cloonan, Anita L. Steptoe, Timo Lassmann, Kazunori Waki, Nadine Hornig, Takahiro Arakawa, Hazuki Takahashi, Jun Kawai, Alistair R. R. Forrest, Harukazu Suzuki, Yoshihide Hayashizaki, David A. Hume, Valerio Orlando, Sean M. Grimmond, Piero Carninci posted to mir retrogene retrotransposition retrotransposon retrovirus by dchughes on 2009-05-18 14:14:50 as along with 13 people and 2 groups inesdesantiago guhjy gdb galka8_diploma tonamswish renatomilani cisevol robfsouza mtagaya fenghezi jbhiatt natstreet antonkratz cis-regulatory-evolution BergmanLab
	Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas. [My Copy] The Biochemical journal, Vol. 377, No. Pt 2. (15 January 2004), pp. 317-326. by J. A. Yalowitz, S. Xiao, M. P. Biju, et al.A. C. Antony, O. W. Cummings, M. A. Deeg, H. N. Jayaram posted to mir nmnat2 pancreas by dchughes on 2009-04-30 13:58:20 as
	A 360-kb interchromosomal duplication of the human HYDIN locus. [My Copy] Genomics, Vol. 88, No. 6. (December 2006), pp. 762-771. by N. A. Doggett, G. Xie, L. J. Meincke, et al.R. D. Sutherland, M. O. Mundt, N. S. Berbari, B. E. Davy, M. L. Robinson, M. K. Rudd, J. L. Weber, R. L. Stallings, C. Han posted to hydin mir by dchughes on 2009-04-27 16:53:47 as
	Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy [My Copy] Hum. Mol. Genet., Vol. 18, No. 8. (15 April 2009), pp. 1471-1481. by Robert J. Osborne, Xiaoyan Lin, Stephen Welle, et al.Krzysztof Sobczak, Jason R. O'Rourke, Maurice S. Swanson, Charles A. Thornton posted to mir myotonic-dystrophy by dchughes on 2009-04-02 10:08:04 as
	Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia [My Copy] Molecular Psychiatry, Vol. aop, No. current. by L. M. Camargo, V. Collura, J. C. Rain, et al.K. Mizuguchi, H. Hermjakob, S. Kerrien, T. P. Bonnert, P. J. Whiting, N. J. Brandon, posted to disc1 mir neuroscience schizophrenia by dchughes on 2009-02-27 12:44:07 as along with 1 person lenov
	Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA [My Copy] Hum. Mol. Genet., Vol. 18, No. 3. (1 February 2009), pp. 418-427. by Ekaterina Revenkova, Maria L. Focarelli, Lucia Susani, et al.Marianna Paulis, Maria T. Bassi, Linda Mannini, Annalisa Frattini, Domenico Delia, Ian Krantz, Paolo Vezzoni, Rolf Jessberger, Antonio Musio posted to mir smc1 by dchughes on 2009-01-14 17:30:39 as
	Disrupted-in-schizophrenia 1 and neuregulin 1 are required for the specification of oligodendrocytes and neurones in the zebrafish brain [My Copy] Hum. Mol. Genet., Vol. 18, No. 3. (1 February 2009), pp. 391-404. by Jonathan D. Wood, Franziska Bonath, Shashvita Kumar, Christopher A. Ross, Vincent T. Cunliffe posted to disc1 mir neuroscience by dchughes on 2009-01-14 17:29:20 as
	Gene structures of three vertebrate adenylate kinase isozymes. [My Copy] Progress in clinical and biological research, Vol. 344 (1990), pp. 495-514. by A. Nakazawa, M. Yamada, H. Tanaka, M. Shahjahan, T. Tanabe posted to ak2 mir by dchughes on 2009-01-07 18:03:07 as
	Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues. [My Copy] Journal of biochemistry, Vol. 123, No. 1. (January 1998), pp. 47-54. by Y. Lee, J. W. Kim, S. M. Lee, et al.H. J. Kim, K. S. Lee, C. Park, I. S. Choe posted to ak2 mir by dchughes on 2009-01-07 18:02:14 as
	cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2. [My Copy] Biochimica et biophysica acta, Vol. 1395, No. 1. (7 January 1998), pp. 34-39. by T. Noma, S. Song, Y. S. Yoon, S. Tanaka, A. Nakazawa posted to ak2 mir by dchughes on 2009-01-07 18:01:33 as
	A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity [My Copy] Science, Vol. 316, No. 5826. (11 May 2007), pp. 889-894. by Timothy M. Frayling, Nicholas J. Timpson, Michael N. Weedon, et al.Eleftheria Zeggini, Rachel M. Freathy, Cecilia M. Lindgren, John R. Perry, Katherine S. Elliott, Hana Lango, Nigel W. Rayner, Beverley Shields, Lorna W. Harries, Jeffrey C. Barrett, Sian Ellard, Christopher J. Groves, Bridget Knight, Ann-Marie Patch, Andrew R. Ness, Shah Ebrahim, Debbie A. Lawlor, Susan M. Ring, Yoav Ben-Shlomo, Marjo-Riitta Jarvelin, Ulla Sovio, Amanda J. Bennett, David Melzer, Luigi Ferrucci, Ruth J. Loos, Ines Barroso, Nicholas J. Wareham, Fredrik Karpe, Katharine R. Owen, Lon R. Cardon, Mark Walker, Graham A. Hitman, Colin N. Palmer, Alex S. Doney, Andrew D. Morris, George D. Smith, The, Andrew T. Hattersley, Mark I. Mccarthy posted to bmi diabetes fto mir by dchughes on 2009-01-07 15:03:08 as along with 3 people jo_davies jandot joepickrell
	Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. [My Copy] Nature genetics (14 December 2008) by , Cristen J J. Willer, Elizabeth K K. Speliotes, et al.Ruth J F J. Loos, Shengxu Li, Cecilia M M. Lindgren, Iris M M. Heid, Sonja I I. Berndt, Amanda L L. Elliott, Anne U U. Jackson, Claudia Lamina, Guillaume Lettre, Noha Lim, Helen N N. Lyon, Steven A A. McCarroll, Konstantinos Papadakis, Lu Qi, Joshua C C. Randall, Rosa Maria M. Roccasecca, Serena Sanna, Paul Scheet, Michael N N. Weedon, Eleanor Wheeler, Jing Hua H. Zhao, Leonie C C. Jacobs, Inga Prokopenko, Nicole Soranzo, Toshiko Tanaka, Nicholas J J. Timpson, Peter Almgren, Amanda Bennett, Richard N N. Bergman, Sheila A A. Bingham, Lori L L. Bonnycastle, Morris Brown, Noël P P. Burtt, Peter Chines, Lachlan Coin, Francis S S. Collins, John M M. Connell, Cyrus Cooper, George Davey D. Smith, Elaine M M. Dennison, Parimal Deodhar, Paul Elliott, Michael R R. Erdos, Karol Estrada, David M M. Evans, Lauren Gianniny, Christian Gieger, Christopher J J. Gillson, Candace Guiducci, Rachel Hackett, David Hadley, Alistair S S. Hall, Aki S S. Havulinna, Johannes Hebebrand, Albert Hofman, Bo Isomaa, Kevin B B. Jacobs, Toby Johnson, Pekka Jousilahti, Zorica Jovanovic, Kay-Tee T. Khaw, Peter Kraft, Mikko Kuokkanen, Johanna Kuusisto, Jaana Laitinen, Edward G G. Lakatta, Jian'an Luan, Robert N N. Luben, Massimo Mangino, Wendy L L. McArdle, Thomas Meitinger, Antonella Mulas, Patricia B B. Munroe, Narisu Narisu, Andrew R R. Ness, Kate Northstone, Stephen O'Rahilly, Carolin Purmann, Matthew G G. Rees, Martin Ridderstråle, Susan M M. Ring, Fernando Rivadeneira, Aimo Ruokonen, Manjinder S S. Sandhu, Jouko Saramies, Laura J J. Scott, Angelo Scuteri, Kaisa Silander, Matthew A A. Sims, Kijoung Song, Jonathan Stephens, Suzanne Stevens, Heather M M. Stringham, Y C Loraine C. Tung, Timo T T. Valle, Cornelia M M. Van Duijn, Karani S S. Vimaleswaran, Peter Vollenweider, Gerard Waeber, Chris Wallace, Richard M M. Watanabe, Dawn M M. Waterworth, Nicholas Watkins, Jacqueline C M C. Witteman, Eleftheria Zeggini, Guangju Zhai, M Carola C. Zillikens, David Altshuler, Mark J J. Caulfield, Stephen J J. Chanock, I Sadaf S. Farooqi, Luigi Ferrucci, Jack M M. Guralnik, Andrew T T. Hattersley, Frank B B. Hu, Marjo-Riitta R. Jarvelin, Markku Laakso, Vincent Mooser, Ken K K. Ong, Willem H H. Ouwehand, Veikko Salomaa, Nilesh J J. Samani, Timothy D D. Spector, Tiinamaija Tuomi, Jaakko Tuomilehto, Manuela Uda, André G G. Uitterlinden, Nicholas J J. Wareham, Panagiotis Deloukas, Timothy M M. Frayling, Leif C C. Groop, Richard B B. Hayes, David J J. Hunter, Karen L L. Mohlke, Leena Peltonen, David Schlessinger, David P P. Strachan, H-Erich E. Wichmann, Mark I I. McCarthy, Michael Boehnke, Inês Barroso, Gonçalo R R. Abecasis, Joel N N. Hirschhorn posted to bmi fto mir sh2b1 by dchughes on 2009-01-07 14:54:28 as along with 1 person Terkko
	Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome [My Copy] J Med Genet, Vol. 41, No. 7. (1 July 2004), pp. 540-544. by C. E. Oquendo, H. Antonicka, E. A. Shoubridge, W. Reardon, G. K. Brown posted to cox15 mir mitochondria by dchughes on 2008-12-18 10:10:48 as
	Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. [My Copy] Journal of medical genetics, Vol. 42, No. 5. (May 2005) by M. Bugiani, V. Tiranti, L. Farina, G. Uziel, M. Zeviani posted to cox15 mir mitochondria by dchughes on 2008-12-18 10:09:04 as
	Increased stress response and beta-phenylethylamine in MAOB-deficient mice. [My Copy] Nature genetics, Vol. 17, No. 2. (October 1997), pp. 206-210. by J. Grimsby, M. Toth, K. Chen, et al.T. Kumazawa, L. Klaidman, J. D. Adams, F. Karoum, J. Gal, J. C. Shih posted to maob mir by dchughes on 2008-12-16 11:40:39 as
	Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. [My Copy] The Journal of clinical investigation, Vol. 97, No. 4. (15 February 1996), pp. 1010-1019. by J. W. Lenders, G. Eisenhofer, N. G. Abeling, et al.W. Berger, D. L. Murphy, C. H. Konings, L. M. Wagemakers, I. J. Kopin, F. Karoum, A. H. van Gennip, H. G. Brunner posted to maob mir by dchughes on 2008-12-16 11:35:35 as
	The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. [My Copy] Human molecular genetics, Vol. 16, No. 23. (1 December 2007), pp. 2892-2899. by M. S. Martin, B. Tang, L. A. Papale, F. H. Yu, W. A. Catterall, A. Escayg posted to mir scn8a by dchughes on 2008-12-05 13:05:07 as
	SCN8A as a novel candidate gene associated with bipolar disorder in the Han Chinese population. [My Copy] Progress in neuro-psychopharmacology & biological psychiatry, Vol. 32, No. 8. (12 December 2008), pp. 1902-1904. by Y. Wang, J. Zhang, X. Li, et al.J. Ji, F. Yang, C. Wan, G. Feng, P. Wan, L. He, G. He posted to bipolar-disorder mir scn8a by dchughes on 2008-12-05 13:01:00 as
	The 3' untranslated region of the membrane-bound IL-1R accessory protein mRNA confers tissue-specific destabilization. [My Copy] Journal of immunology (Baltimore, Md. : 1950), Vol. 173, No. 10. (15 November 2004), pp. 6248-6258. by L. E. Jensen, A. S. Whitehead posted to il1rap1 mir by dchughes on 2008-11-26 15:50:40 as
	Mutations in the calcium-related gene IL1RAPL1 are associated with autism. [My Copy] Human molecular genetics, Vol. 17, No. 24. (15 December 2008), pp. 3965-3974. by Amélie Piton, Jacques L. Michaud, Huashan Peng, et al.Swaroop Aradhya, Julie Gauthier, Laurent Mottron, Nathalie Champagne, Ronald G. Lafrenière, Fadi F. Hamdan, S2D team, Ridha Joober, Eric Fombonne, Claude Marineau, Patrick Cossette, Marie-Pierre P. Dubé, Pejmun Haghighi, Pierre Drapeau, Philip A. Barker, Salvatore Carbonetto, Guy A. Rouleau posted to autsim il1rap1 il1rapl1 mir by dchughes on 2008-11-26 15:45:14 as along with 1 person daforerog
	Association of common variants in the Joubert syndrome gene (AHI1) with autism [My Copy] Hum. Mol. Genet., Vol. 17, No. 24. (15 December 2008), pp. 3887-3896. by Alvarez, Rita M. Cantor, Joseph G. Gleeson, et al.Anna Ustaszewska, Wendy S. Schackwitz, Len A. Pennacchio, Daniel H. Geschwind posted to ah1 autism jouberts-syndrome mir by dchughes on 2008-11-26 15:43:26 as
	Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin [My Copy] Nature Genetics, Vol. 40, No. 12. (09 November 2008), pp. 1410-1412. by Hans C. Hennies, Uwe Kornak, Haikuo Zhang, et al.Johannes Egerer, Xin Zhang, Wenke Seifert, Jirko Kühnisch, Birgit Budde, Marc Nätebus, Francesco Brancati, William R. Wilcox, Dietmar Müller, Paige B. Kaplan, Anna Rajab, Giuseppe Zampino, Valentina Fodale, Bruno Dallapiccola, William Newman, Kay Metcalfe, Jill Clayton-Smith, May Tassabehji, Beat Steinmann, Francis A. Barr, Peter Nürnberg, Peter Wieacker, Stefan Mundlos posted to mir scyl1bp1 by dchughes on 2008-11-25 12:23:34 as
	In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. [My Copy] Human molecular genetics, Vol. 15, No. 11. (1 June 2006), pp. 1847-1857. by B. Chang, H. Khanna, N. Hawes, et al.D. Jimeno, S. He, C. Lillo, S. K. Parapuram, H. Cheng, A. Scott, R. E. Hurd, J. A. Sayer, E. A. Otto, M. Attanasio, J. F. O'Toole, G. Jin, C. Shou, F. Hildebrandt, D. S. Williams, J. R. Heckenlively, A. Swaroop posted to cep290 jouberts-syndrome mir retinal-dystrophy rpgr by dchughes on 2008-11-13 14:05:25 as
	Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice [My Copy] Hum. Mol. Genet., Vol. 17, No. 21. (1 November 2008), pp. 3368-3379. by Si-Tse Jiang, Yuan-Yow Chiou, Ellian Wang, et al.Hsiu-Kuan Lin, Sue-Ping Lee, Hsin-Yi Lu, Chi-Kuang L. Wang, Ming-Jer Tang, Hung Li posted to mir nphp1 sperm spermatogenesis by dchughes on 2008-11-12 16:44:03 as

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forensic	569
mir	279
chromatin	169
retrotransposition	161
sperm	149
zona-pellucida	145
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mitochondria	98
fraud	97
str	84
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fish	39
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protein-degradation	2
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129	1
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trk	1
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vitellogenin	1
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voltage-gated-potassium-channels	1
whole-genome-alignment	1
y-family-polymerase	1
zebrafish-retrotransposon	1

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