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Select item 42820791.

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

E Pohler, M Huber, SE Boonen, M Zamiri, PA Gregersen, M Sommerlund, M Ramsing, D Hohl, WHI McLean, FJD Smith

Br J Dermatol. 2014 Aug; 171(2): 433–436. Published online 2014 Aug 7. doi: 10.1111/bjd.12927

PMCID:: PMC4282079

Article PDF–405K

Select item 38361662.

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Elizabeth Pohler, Ons Mamai, Jennifer Hirst, Mozheh Zamiri, Helen Horn, Toshifumi Nomura, Alan D. Irvine, Benvon E. Moran, Neil J. Wilson, Frances J. D. Smith, Christabelle S. M Goh, Aileen Sandilands, Christian Cole, Geoffrey J. Barton, Alan T. Evans, Hiroshi Shimizu, Masashi Akiyama, Akihiro Suehiro, Izumi Konohana, Mohammad Shboul, Sebastien Teissier, Lobna Boussofara, Mohamed Denguezli, Ali Saad, Moez Gribaa, Patricia J. Dopping-Hepenstal, John A McGrath, Sara J. Brown, David R. Goudie, Bruno Reversade, Colin S. Munro, W. H. Irwin McLean

Nat Genet. Author manuscript; available in PMC 2013 Nov 21.

Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 10.1038/ng.2444. Published online 2012 Oct 14. doi: 10.1038/ng.2444

PMCID:: PMC3836166

Article PDF–1.2M

Select item 38269753.

Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling

Elizabeth Pöhler, Mozheh Zamiri, Catriona P Harkins, Julio C Salas-Alanis, William Perkins, Frances J D Smith, W H Irwin McLean, Sara J Brown

J Invest Dermatol. 2013 Dec; 133(12): 2805–2808. Prepublished online 2013 Jun 6. Published online 2013 Jul 11. doi: 10.1038/jid.2013.243

PMCID:: PMC3826975

Article PDF–12M

Select item 34845074.

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

Kathrin A. Giehl, Gertrud N. Eckstein, Sandra M. Pasternack, Silke Praetzel-Wunder, Thomas Ruzicka, Peter Lichtner, Kerstin Seidl, Mike Rogers, Elisabeth Graf, Lutz Langbein, Markus Braun-Falco, Regina C. Betz, Tim M. Strom

Am J Hum Genet. 2012 Oct 5; 91(4): 754–759. doi: 10.1016/j.ajhg.2012.08.024

PMCID:: PMC3484507

Article PDF–483K

Select item 17353335.

Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22–q24

A Martinez-Mir, A Zlotogorski, D Londono, D Gordon, A Grunn, E Uribe, L Horev, I Ruiz, N Davalos, O Alayan, J Liu, T Gilliam, J Salas-Alanis, A Christiano

J Med Genet. 2003 Dec; 40(12): 872–878. doi: 10.1136/jmg.40.12.872

PMCID:: PMC1735333

Summary PDF–514K

Select item 48703796.

Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma

Megan Furniss, Claire A. Higgins, Amalia Martinez-Mir, Liran Horev, Lynn Petukhova, Andrija Stanimirovic, Jovan Miljkovic, Abraham Zlotogorski, Angela M. Christiano

J Invest Dermatol. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: J Invest Dermatol. 2014 Jun; 134(6): 1749–1752. Published online 2014 Jan 3. doi: 10.1038/jid.2014.4

PMCID:: PMC4870379

Article PDF–198K

Select item 67020597.

AAGAB controls AP2 adaptor assembly in clathrin-mediated endocytosis

Daniel R. Gulbranson, Lauren Crisman, MyeongSeon Lee, Yan Ouyang, Bridget L. Menasche, Brittany A. Demmitt, Chun Wan, Toshifumi Nomura, Yihong Ye, Haijia Yu, Jingshi Shen

Dev Cell. Author manuscript; available in PMC 2020 Aug 19.

Published in final edited form as: Dev Cell. 2019 Aug 19; 50(4): 436–446.e5. Published online 2019 Jul 25. doi: 10.1016/j.devcel.2019.06.013

PMCID:: PMC6702059

Article PDF–1.1M

Select item 31793168.

Polymorphisms in Predicted miRNA Binding Sites and Osteoporosis

Shu-Feng Lei, Christopher J Papasian, Hong-Wen Deng

J Bone Miner Res. 2011 Jan; 26(1): 72–78. Published online 2010 Jul 16. doi: 10.1002/jbmr.186

PMCID:: PMC3179316

Article PDF–109K

Select item 21694939.

γ-Synergin: An Eh Domain–Containing Protein That Interacts with γ-Adaptin

Lesley J. Page, Penelope J. Sowerby, Winnie W.Y. Lui, Margaret S. Robinson

J Cell Biol. 1999 Sep 6; 146(5): 993–1004. doi: 10.1083/jcb.146.5.993

PMCID:: PMC2169493

Article PDF–1.9M

Select item 352727610.

A Synthetic Interaction Screen Identifies Factors Selectively Required for Proliferation and TERT Transcription in p53-Deficient Human Cancer Cells

Li Xie, Claude Gazin, Sung Mi Park, Lihua J. Zhu, Marie-anne Debily, Ellen L. W. Kittler, Maria L. Zapp, David Lapointe, Stephane Gobeil, Ching-Man Virbasius, Michael R. Green

PLoS Genet. 2012 Dec; 8(12): e1003151. Published online 2012 Dec 20. doi: 10.1371/journal.pgen.1003151

PMCID:: PMC3527276

Article PDF–1.8M

Select item 760600811.

BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A

Chun‐guo Mao, Sha‐sha Jiang, Cheng Shen, Tan Long, Hua Jin, Qun‐You Tan, Bo Deng

Thorac Cancer. 2020 Nov; 11(11): 3326–3336. Published online 2020 Oct 1. doi: 10.1111/1759-7714.13676

PMCID:: PMC7606008

Article PDF–2.5M

Select item 108373212.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Article PDF–375K

Select item 631495713.

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

Siwei Chen, Robert Fragoza, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder, Bernie Devlin, Haiyuan Yu

Nat Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Nat Genet. 2018 Jul; 50(7): 1032–1040. Published online 2018 Jun 11. doi: 10.1038/s41588-018-0130-z

PMCID:: PMC6314957

Article PDF–1.3M

Select item 134750114.

The LIFEdb database in 2006

Alexander Mehrle, Heiko Rosenfelder, Ingo Schupp, Coral del Val, Dorit Arlt, Florian Hahne, Stephanie Bechtel, Jeremy Simpson, Oliver Hofmann, Winston Hide, Karl-Heinz Glatting, Wolfgang Huber, Rainer Pepperkok, Annemarie Poustka, Stefan Wiemann

Nucleic Acids Res. 2006 Jan 1; 34(Database issue): D415–D418. Published online 2005 Dec 28. doi: 10.1093/nar/gkj139

PMCID:: PMC1347501

Article PDF–301K

Select item 52893015.

From ORFeome to Biology: A Functional Genomics Pipeline

Stefan Wiemann, Dorit Arlt, Wolfgang Huber, Ruth Wellenreuther, Simone Schleeger, Alexander Mehrle, Stephanie Bechtel, Mamatha Sauermann, Ulrike Korf, Rainer Pepperkok, Holger Sültmann, Annemarie Poustka

Genome Res. 2004 Oct; 14(10b): 2136–2144. doi: 10.1101/gr.2576704

PMCID:: PMC528930

Article PDF–459K

Select item 31107216.

Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs

Stefan Wiemann, Bernd Weil, Ruth Wellenreuther, Johannes Gassenhuber, Sabine Glassl, Wilhelm Ansorge, Michael Böcher, Helmut Blöcker, Stefan Bauersachs, Helmut Blum, Jürgen Lauber, Andreas Düsterhöft, Andreas Beyer, Karl Köhrer, Normann Strack, Hans-Werner Mewes, Birgit Ottenwälder, Brigitte Obermaier, Jens Tampe, Dagmar Heubner, Rolf Wambutt, Bernhard Korn, Michaela Klein, Annemarie Poustka

Genome Res. 2001 Mar; 11(3): 422–435. doi: 10.1101/gr.154701

PMCID:: PMC311072

Article PDF–542K

Select item 31094817.

DNA Cloning Using In Vitro Site-Specific Recombination

James L. Hartley, Gary F. Temple, Michael A. Brasch

Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000

PMCID:: PMC310948

Article PDF–1.7M

Select item 484160718.

High-throughput analyses of hnRNP H1 dissects its multi-functional aspect

Philip J. Uren, Emad Bahrami-Samani, Patricia Rosa de Araujo, Christine Vogel, Mei Qiao, Suzanne C. Burns, Andrew D. Smith, Luiz O. F. Penalva

RNA Biol. 2016 Apr; 13(4): 400–411. Published online 2016 Jan 13. doi: 10.1080/15476286.2015.1138030

PMCID:: PMC4841607

Article PDF–1.6M

Select item 599939619.

The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation

Tyler B Faust, Yang Li, Curtis W Bacon, Gwendolyn M Jang, Amit Weiss, Bhargavi Jayaraman, Billy W Newton, Nevan J Krogan, Iván D'Orso, Alan D Frankel

eLife. 2018; 7: e31879. Published online 2018 May 30. doi: 10.7554/eLife.31879

PMCID:: PMC5999396

Article PDF–3.6M

Select item 268304720.

Ubiquitin-mediated proteolysis of HuR by heat shock

Kotb Abdelmohsen, Subramanya Srikantan, Xiaoling Yang, Ashish Lal, Hyeon Ho Kim, Yuki Kuwano, Stefanie Galban, Kevin G Becker, Davida Kamara, Rafael de Cabo, Myriam Gorospe

EMBO J. 2009 May 6; 28(9): 1271–1282. Published online 2009 Mar 26. doi: 10.1038/emboj.2009.67

PMCID:: PMC2683047

Article PDF–1.4M

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