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Select item 3069981.

Human helicase gene SKI2W in the HLA class III region exhibits striking structural similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: emergence of a new gene family.

A W Dangel, L Shen, A R Mendoza, L C Wu, C Y Yu

Nucleic Acids Res. 1995 Jun 25; 23(12): 2120–2126. doi: 10.1093/nar/23.12.2120

PMCID:: PMC306998

Summary Page Browse PDF–1.5M

Select item 36590312.

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

Neil V Morgan, Jane L Hartley, Kenneth DR Setchell, Michael A Simpson, Rachel Brown, Louise Tee, Sian Kirkham, Shanaz Pasha, Richard C Trembath, Eamonn R Maher, Paul Gissen, Deirdre A Kelly

Orphanet J Rare Dis. 2013; 8: 74. Published online 2013 May 16. doi: 10.1186/1750-1172-8-74

PMCID:: PMC3659031

Abstract Article PDF–344K

Select item 1478133.

The human DEVH-box protein Ski2w from the HLA is localized in nucleoli and ribosomes.

X Qu, Z Yang, S Zhang, L Shen, A W Dangel, J H Hughes, K L Redman, L C Wu, C Y Yu

Nucleic Acids Res. 1998 Sep 1; 26(17): 4068–4077. doi: 10.1093/nar/26.17.4068

PMCID:: PMC147813

Summary PDF–455K

Select item 88603814.

The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism

Alexander Kögel, Achim Keidel, Fabien Bonneau, Ingmar B. Schäfer, Elena Conti

Mol Cell. 2022 Feb 17; 82(4): 756–769.e8. doi: 10.1016/j.molcel.2022.01.009

PMCID:: PMC8860381

Abstract Article

Select item 79346065.

Extraction of mRNA from stalled ribosomes by the Ski complex

Alexandra Zinoviev, Rustam K. Ayupov, Irina S. Abaeva, Christopher U. T. Hellen, Tatyana V. Pestova

Mol Cell. Author manuscript; available in PMC 2021 Mar 19.

Published in final edited form as: Mol Cell. 2020 Mar 19; 77(6): 1340–1349.e6. Published online 2020 Jan 31. doi: 10.1016/j.molcel.2020.01.011

PMCID:: PMC7934606

Abstract Article PDF–1.2M

Select item 33222396.

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure, Egritas Odul, Ersin Sayar, Hilary Smith, Virginie Colomb, Nicolas Andre, Jean-Pierre Hugot, Olivier Goulet, Caroline Lacoste, Jacques Sarles, Julien Royet, Nicolas Levy, Catherine Badens

Am J Hum Genet. 2012 Apr 6; 90(4): 689–692. doi: 10.1016/j.ajhg.2012.02.009

PMCID:: PMC3322239

Abstract Article PDF–307K

Select item 20658827.

Identification of Two Independent Risk Factors for Lupus within the MHC in United Kingdom Families

Michelle M. A Fernando, Christine R Stevens, Pardis C Sabeti, Emily C Walsh, Alasdair J. M McWhinnie, Anila Shah, Todd Green, John D Rioux, Timothy J Vyse

PLoS Genet. 2007 Nov; 3(11): e192. Prepublished online 2007 Sep 20. Published online 2007 Nov 9. doi: 10.1371/journal.pgen.0030192

PMCID:: PMC2065882

Abstract Article PDF–840K

Select item 1657198.

CDK9 Is Constitutively Expressed throughout the Cell Cycle, and Its Steady-State Expression Is Independent of SKP2

Judit Garriga, Sabyasachi Bhattacharya, Joaquim Calbó, Renée M. Marshall, May Truongcao, Dale S. Haines, Xavier Graña

Mol Cell Biol. 2003 Aug; 23(15): 5165–5173. doi: 10.1128/MCB.23.15.5165-5173.2003

PMCID:: PMC165719

Abstract Article PDF–422K

Select item 33750629.

Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration

Laura J Kopplin, Robert P Igo, Jr, Yang Wang, Theru A Sivakumaran, Stephanie A Hagstrom, Neal S Peachey, Peter J Francis, Michael L Klein, John Paul SanGiovanni, Emily Y Chew, Gayle JT Pauer, Gwen M Sturgill, Tripti Joshi, Liping Tian, Quansheng Xi, Alice K Henning, Kristine E. Lee, Ronald Klein, Barbara EK Klein, Sudha K Iyengar

Genes Immun. Author manuscript; available in PMC 2012 Jun 14.

Published in final edited form as: Genes Immun. 2010 Dec; 11(8): 609–621. Published online 2010 Sep 23. doi: 10.1038/gene.2010.39

PMCID:: PMC3375062

Abstract Article PDF–1.7M

Select item 117600310.

The human PAF complex coordinates transcription with events downstream of RNA synthesis

Bing Zhu, Subhrangsu S. Mandal, Anh-Dung Pham, Yong Zheng, Hediye Erdjument-Bromage, Surinder K. Batra, Paul Tempst, Danny Reinberg

Genes Dev. 2005 Jul 15; 19(14): 1668–1673. doi: 10.1101/gad.1292105

PMCID:: PMC1176003

Abstract Article PDF–360K

Select item 362598411.

Genetic Factors In Non-smokers with Age-related Macular Degeneration Revealed Through Genome-wide Gene-Environment Interaction Analysis

Adam C. Naj, William K. Scott, Monique D. Courtenay, William H. Cade, Stephen G. Schwartz, Jaclyn L. Kovach, Anita Agarwal, Gaofeng Wang, Jonathan L. Haines, Margaret A. Pericak-Vance

Ann Hum Genet. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Ann Hum Genet. 2013 May; 77(3): 215–231. doi: 10.1111/ahg.12011

PMCID:: PMC3625984

Abstract Article PDF–654K

Select item 286772212.

Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration

Wei Chen, Dwight Stambolian, Albert O. Edwards, Kari E. Branham, Mohammad Othman, Johanna Jakobsdottir, Nirubol Tosakulwong, Margaret A. Pericak-Vance, Peter A. Campochiaro, Michael L. Klein, Perciliz L. Tan, Yvette P. Conley, Atsuhiro Kanda, Laura Kopplin, Yanming Li, Katherine J. Augustaitis, Athanasios J. Karoukis, William K. Scott, Anita Agarwal, Jaclyn L. Kovach, Stephen G. Schwartz, Eric A. Postel, Matthew Brooks, Keith H. Baratz, William L. Brown, Complications of Age-Related Macular Degeneration Prevention Trial (CAPT) Research Group, Alexander J. Brucker, Anton Orlin, Gary Brown, Allen Ho, Carl Regillo, Larry Donoso, Lifeng Tian, Brian Kaderli, Dexter Hadley, Stephanie A. Hagstrom, Neal S. Peachey, Ronald Klein, Barbara E. K. Klein, Norimoto Gotoh, Kenji Yamashiro, Frederick Ferris, III, Jesen A. Fagerness, Robyn Reynolds, Lindsay A. Farrer, Ivana K. Kim, Joan W. Miller, Marta Cortón, Angel Carracedo, Manuel Sanchez-Salorio, Elizabeth W. Pugh, Kimberly F. Doheny, Maria Brion, Margaret M. DeAngelis, Daniel E. Weeks, Donald J. Zack, Emily Y. Chew, John R. Heckenlively, Nagahisa Yoshimura, Sudha K. Iyengar, Peter J. Francis, Nicholas Katsanis, Johanna M. Seddon, Jonathan L. Haines, Michael B. Gorin, Gonçalo R. Abecasis, Anand Swaroop, Robert N. Johnson, Everett Ai, H. Richard McDonald, Margaret Stolarczuk, Peter Reed Pavan, Karina K. Billiris, Mohan Iyer, Matthew M. Menosky, Scott E. Pautler, Sharon M. Millard, Baker Hubbard, III, Thomas Aaberg, Sr., Lindy DuBois, Alice Lyon, Susan Anderson-Nelson, Lee M. Jampol, David V. Weinberg, Annie Muñana, Zuzanna Rozenbajgier, David Orth, Jack Cohen, Matthew MacCumber, Matthew MacCumber, Celeste Figliulo, Liz Porcz, James Folk, H. Culver Boldt, Stephen R. Russell, Rachel Ivins, Connie J. Hinz, Charles C. Barr, Steve Bloom, Ken Jaegers, Brian Kritchman, Greg Whittington, Jeffrey Heier, Albert R. Frederick, Jr., Michael G. Morley, Trexler Topping, Heather L. Davis, Susan B. Bressler, Neil M. Bressler, Warren Doll, Michael Trese, Antonio Capone, Bruce R. Garretson, Tarek S. Hassan, Alan J. Ruby, Tammy Osentoski, Colin A. McCannel, Margaret J. Ruszczyk, Gilbert Grand, Kevin Blinder, Nancy M. Holekamp, Daniel P. Joseph, Gaurav Shah, Ginny S. Nobel, Andrew N. Antoszyk, David J. Browning, Alison H Stallings, Lawrence J. Singerman, David Miller, Michael Novak, Scott Pendergast, Hernando Zegarra, Stephanie A. Schura, Sheila Smith-Brewer, Frederick H. Davidorf, Robert Chambers, Louis Chorich, Jill Salerno, Richard F. Dreyer, Colin Ma, Marcia R. Kopfer, Michael L. Klein, David J. Wilson, Susan K. Nolte, Juan E. Grunwald, Alexander J. Brucker, Josh Dunaief, Stuart L. Fine, Albert M. Maguire, Robert A. Stoltz, Monique N. McRay, Gary Edd Fish, Rajiv Anand, Rand Spencer, Jean Arnwine, Suresh R. Chandra, Michael Altaweel, Barbara Blodi, Justin Gottlieb, Michael Ip, T. Michael Nork, Jennie Perry-Raymond, Stuart L. Fine, Maureen G. Maguire, Mary Brightwell-Arnold, Sandra Harkins, Ellen Peskin, Gui-Shuang Ying, Natalie Kurinij

Proc Natl Acad Sci U S A. 2010 Apr 20; 107(16): 7401–7406. Published online 2010 Apr 12. doi: 10.1073/pnas.0912702107

PMCID:: PMC2867722

Abstract Article PDF–643K

Select item 188528113.

Mutations in gfpt1 and skiv2l2 Cause Distinct Stage-Specific Defects in Larval Melanocyte Regeneration in Zebrafish

Chao-Tsung Yang, Anna E Hindes, Keith A Hultman, Stephen L Johnson

PLoS Genet. 2007 Jun; 3(6): e88. Prepublished online 2007 Apr 17. Published online 2007 Jun 1. doi: 10.1371/journal.pgen.0030088

PMCID:: PMC1885281

Abstract Article PDF–770K

Select item 444778614.

A novel common variant in DCST2 is associated with length in early life and height in adulthood

Ralf J.P. van der Valk, Eskil Kreiner-Møller, Marjolein N. Kooijman, Mònica Guxens, Evangelia Stergiakouli, Annika Sääf, Jonathan P. Bradfield, Frank Geller, M. Geoffrey Hayes, Diana L. Cousminer, Antje Körner, Elisabeth Thiering, John A. Curtin, Ronny Myhre, Ville Huikari, Raimo Joro, Marjan Kerkhof, Nicole M. Warrington, Niina Pitkänen, Ioanna Ntalla, Momoko Horikoshi, Riitta Veijola, Rachel M. Freathy, Yik-Ying Teo, Sheila J. Barton, David M. Evans, John P. Kemp, Beate St Pourcain, Susan M. Ring, George Davey Smith, Anna Bergström, Inger Kull, Hakon Hakonarson, Frank D. Mentch, Hans Bisgaard, Bo Chawes, Jakob Stokholm, Johannes Waage, Patrick Eriksen, Astrid Sevelsted, Mads Melbye, Early Genetics and Lifecourse Epidemiology (EAGLE) Consortium, Cornelia M. van Duijn, Carolina Medina-Gomez, Albert Hofman, Johan C. de Jongste, H. Rob Taal, André G. Uitterlinden, Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Loren L. Armstrong, Johan Eriksson, Aarno Palotie, Mariona Bustamante, Xavier Estivill, Juan R. Gonzalez, Sabrina Llop, Wieland Kiess, Anubha Mahajan, Claudia Flexeder, Carla M.T. Tiesler, Clare S. Murray, Angela Simpson, Per Magnus, Verena Sengpiel, Anna-Liisa Hartikainen, Sirkka Keinanen-Kiukaanniemi, Alexandra Lewin, Alexessander Da Silva Couto Alves, Alexandra I. Blakemore, Jessica L. Buxton, Marika Kaakinen, Alina Rodriguez, Sylvain Sebert, Marja Vaarasmaki, Timo Lakka, Virpi Lindi, Ulrike Gehring, Dirkje S. Postma, Wei Ang, John P. Newnham, Leo-Pekka Lyytikäinen, Katja Pahkala, Olli T. Raitakari, Kalliope Panoutsopoulou, Eleftheria Zeggini, Dorret I. Boomsma, Maria Groen-Blokhuis, Jorma Ilonen, Lude Franke, Joel N. Hirschhorn, Tune H. Pers, Liming Liang, Jinyan Huang, Berthold Hocher, Mikael Knip, Seang-Mei Saw, John W. Holloway, Erik Melén, Struan F.A. Grant, Bjarke Feenstra, William L. Lowe, Elisabeth Widén, Elena Sergeyev, Harald Grallert, Adnan Custovic, Bo Jacobsson, Marjo-Riitta Jarvelin, Mustafa Atalay, Gerard H. Koppelman, Craig E. Pennell, Harri Niinikoski, George V. Dedoussis, Mark I. Mccarthy, Timothy M. Frayling, Jordi Sunyer, Nicholas J. Timpson, Fernando Rivadeneira, Klaus Bønnelykke, Vincent W.V. Jaddoe

Hum Mol Genet. 2015 Feb 15; 24(4): 1155–1168. Published online 2014 Oct 3. doi: 10.1093/hmg/ddu510

PMCID:: PMC4447786

Abstract Article PDF–539K

Select item 373947215.

Seven New Loci Associated with Age-Related Macular Degeneration

The AMD Gene Consortium

Nat Genet. Author manuscript; available in PMC 2013 Oct 1.

Published in final edited form as: Nat Genet. 2013 Apr; 45(4): 433–439e2. Published online 2013 Mar 3. doi: 10.1038/ng.2578

PMCID:: PMC3739472

Abstract Article PDF–1.1M

Select item 364210416.

The Novel Ubiquitin Ligase Complex, SCF^Fbxw4, Interacts with the COP9 Signalosome in an F-Box Dependent Manner, Is Mutated, Lost and Under-Expressed in Human Cancers

William W. Lockwood, Sahiba K. Chandel, Greg L. Stewart, Hediye Erdjument-Bromage, Levi J. Beverly

PLoS One. 2013; 8(5): e63610. Published online 2013 May 2. doi: 10.1371/journal.pone.0063610

PMCID:: PMC3642104

Abstract Article PDF–1.7M

Select item 465716117.

PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion

Anna E. Dart, Gary M. Box, William Court, Madeline E. Gale, John P. Brown, Sarah E. Pinder, Suzanne A. Eccles, Claire M. Wells

J Cell Biol. 2015 Nov 23; 211(4): 863–879. doi: 10.1083/jcb.201501072

PMCID:: PMC4657161

Abstract Article PDF–8.1M

Select item 275859818.

High-Density SNP Screening of the Major Histocompatibility Complex in Systemic Lupus Erythematosus Demonstrates Strong Evidence for Independent Susceptibility Regions

Lisa F. Barcellos, Suzanne L. May, Patricia P. Ramsay, Hong L. Quach, Julie A. Lane, Joanne Nititham, Janelle A. Noble, Kimberly E. Taylor, Diana L. Quach, Sharon A. Chung, Jennifer A. Kelly, Kathy L. Moser, Timothy W. Behrens, Michael F. Seldin, Glenys Thomson, John B. Harley, Patrick M. Gaffney, Lindsey A. Criswell

PLoS Genet. 2009 Oct; 5(10): e1000696. Published online 2009 Oct 23. doi: 10.1371/journal.pgen.1000696

PMCID:: PMC2758598

Abstract Article PDF–323K

Select item 406425419.

An atlas of genetic influences on human blood metabolites

So-Youn Shin, Eric B. Fauman, Ann-Kristin Petersen, Jan Krumsiek, Rita Santos, Jie Huang, Matthias Arnold, Idil Erte, Vincenzo Forgetta, Tsun-Po Yang, Klaudia Walter, Cristina Menni, Lu Chen, Louella Vasquez, Ana M. Valdes, Craig L. Hyde, Vicky Wang, Daniel Ziemek, Phoebe Roberts, Li Xi, Elin Grundberg, The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Melanie Waldenberger, J. Brent Richards, Robert P. Mohney, Michael V. Milburn, Sally L. John, Jeff Trimmer, Fabian J. Theis, John P. Overington, Karsten Suhre, M. Julia Brosnan, Christian Gieger, Gabi Kastenmüller, Tim D Spector, Nicole Soranzo

Nat Genet. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Nat Genet. 2014 Jun; 46(6): 543–550. Published online 2014 May 11. doi: 10.1038/ng.2982

PMCID:: PMC4064254

Abstract Article PDF–2.4M

Select item 356108420.

Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers

Gordan Lauc, Jennifer E. Huffman, Maja Pučić, Lina Zgaga, Barbara Adamczyk, Ana Mužinić, Mislav Novokmet, Ozren Polašek, Olga Gornik, Jasminka Krištić, Toma Keser, Veronique Vitart, Blanca Scheijen, Hae-Won Uh, Mariam Molokhia, Alan Leslie Patrick, Paul McKeigue, Ivana Kolčić, Ivan Krešimir Lukić, Olivia Swann, Frank N. van Leeuwen, L. Renee Ruhaak, Jeanine J. Houwing-Duistermaat, P. Eline Slagboom, Marian Beekman, Anton J. M. de Craen, André M. Deelder, Qiang Zeng, Wei Wang, Nicholas D. Hastie, Ulf Gyllensten, James F. Wilson, Manfred Wuhrer, Alan F. Wright, Pauline M. Rudd, Caroline Hayward, Yurii Aulchenko, Harry Campbell, Igor Rudan

PLoS Genet. 2013 Jan; 9(1): e1003225. Published online 2013 Jan 31. doi: 10.1371/journal.pgen.1003225

PMCID:: PMC3561084

Abstract Article PDF–1.0M

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