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Select item 87252061.

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

Kristen K. Rosano, Daniel J. Wegner, Marwan Shinawi, Dustin Baldridge, Robert C. Bucelli, Sonika Dahiya, Frances V. White, Marcia C. Willing, William McAllister, Ryan J. Taft, Krista Bluske, Amanda Buchanan, Francis Sessions Cole, Jennifer A. Wambach

Am J Med Genet A. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Am J Med Genet A. 2021 Jul; 185(7): 2190–2197. Published online 2021 May 1. doi: 10.1002/ajmg.a.62219

PMCID:: PMC8725206

Article PDF–1.1M

Select item 81997392.

Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases

Justine Meunier, Rocio-Nur Villar-Quiles, Isabelle Duband-Goulet, Ana Ferreiro

Int J Mol Sci. 2021 Jun; 22(11): 6039. Published online 2021 Jun 3. doi: 10.3390/ijms22116039

PMCID:: PMC8199739

Article PDF–2.0M

Select item 35745533.

Germline Mutations in MSR1, ASCC1, and CTHRC1 in Patients With Barrett Esophagus and Esophageal Adenocarcinoma

Dr Mohammed Orloff, Ms Charissa Peterson, Dr Xin He, Ms Shireen Ganapathi Brandie Heald, Dr Yi-ran Yang, Dr Gurkan Bebek, Mr Todd Romigh, Mess Jee Hoon Song, Mess Wenjing Wu, Dr Stefan David, Dr Yulan Cheng, Dr Stephen J. Meltzer, Dr Charis Eng

JAMA. Author manuscript; available in PMC 2013 Feb 16.

Published in final edited form as: JAMA. 2011 Jul 27; 306(4): 410–419. doi: 10.1001/jama.2011.1029

PMCID:: PMC3574553

Article PDF–1.6M

Select item 61202134.

RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage

Jennifer M. Soll, Joshua R. Brickner, Miranda C. Mudge, Nima Mosammaparast

J Biol Chem. 2018 Aug 31; 293(35): 13524–13533. Published online 2018 Jul 11. doi: 10.1074/jbc.RA117.000114

PMCID:: PMC6120213

Article PDF–1.9M

Select item 26439065.

Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1

Simon Almeida-Vega, Krista Catlow, Susan Kenny, Rod Dimaline, Andrea Varro

Am J Physiol Gastrointest Liver Physiol. 2009 Feb; 296(2): G414–G423. Published online 2008 Dec 12. doi: 10.1152/ajpgi.90340.2008

PMCID:: PMC2643906

Article

Select item 70422316.

Identification of a novel trigger complex that facilitates ribosome-associated quality control in mammalian cells

Satoshi Hashimoto, Takato Sugiyama, Reina Yamazaki, Risa Nobuta, Toshifumi Inada

Sci Rep. 2020; 10: 3422. Published online 2020 Feb 25. doi: 10.1038/s41598-020-60241-w

PMCID:: PMC7042231

Article PDF–4.2M

Select item 48000377.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Ellen Knierim, Hiromi Hirata, Nicole I. Wolf, Susanne Morales-Gonzalez, Gudrun Schottmann, Yu Tanaka, Sabine Rudnik-Schöneborn, Mickael Orgeur, Klaus Zerres, Stefanie Vogt, Anne van Riesen, Esther Gill, Franziska Seifert, Angelika Zwirner, Janbernd Kirschner, Hans Hilmar Goebel, Christoph Hübner, Sigmar Stricker, David Meierhofer, Werner Stenzel, Markus Schuelke

Am J Hum Genet. 2016 Mar 3; 98(3): 473–489. Published online 2016 Feb 25. doi: 10.1016/j.ajhg.2016.01.006

PMCID:: PMC4800037

Article PDF–5.9M

Select item 1397728.

Novel Transcription Coactivator Complex Containing Activating Signal Cointegrator 1

Dong-Ju Jung, Hee-Sook Sung, Young-Wha Goo, Hyun Mi Lee, Ok Ku Park, Sung-Yun Jung, Janghoo Lim, Han-Jong Kim, Soo-Kyung Lee, Tae Sung Kim, Jae Woon Lee, Young Chul Lee

Mol Cell Biol. 2002 Jul; 22(14): 5203–5211. doi: 10.1128/MCB.22.14.5203-5211.2002

PMCID:: PMC139772

Article PDF–535K

Select item 27220179.

Genetic Variation in Healthy Oldest-Old

Julius Halaschek-Wiener, Mahsa Amirabbasi-Beik, Nasim Monfared, Markus Pieczyk, Christian Sailer, Anita Kollar, Ruth Thomas, Georgios Agalaridis, So Yamada, Lisa Oliveira, Jennifer A. Collins, Graydon Meneilly, Marco A. Marra, Kenneth M. Madden, Nhu D. Le, Joseph M. Connors, Angela R. Brooks-Wilson

PLoS One. 2009; 4(8): e6641. Published online 2009 Aug 14. doi: 10.1371/journal.pone.0006641

PMCID:: PMC2722017

Article PDF–160K

Select item 31087610.

Identification of Novel Human Genes Evolutionarily Conserved in Caenorhabditis elegans by Comparative Proteomics

Chun-Hung Lai, Chang-Yuan Chou, Lan-Yang Ch'ang, Chung-Shyan Liu, Wen-chang Lin

Genome Res. 2000 May; 10(5): 703–713. doi: 10.1101/gr.10.5.703

PMCID:: PMC310876

Article PDF–1.2M

Select item 671373611.

Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins

Sascha E. Dho, Nancy Silva-Gagliardi, Fabio Morgese, Etienne Coyaud, Emily Lamoureux, Donna M. Berry, Brian Raught, C. Jane McGlade

Sci Rep. 2019; 9: 12471. Published online 2019 Aug 28. doi: 10.1038/s41598-019-48902-x

PMCID:: PMC6713736

Article PDF–5.6M

Select item 632118512.

High Throughput Chemical Screening Reveals Multiple Regulatory Proteins on FOXA1 in Breast Cancer Cell Lines

Shixiong Wang, Sachin Kumar Singh, Madhumohan R. Katika, Sandra Lopez-Aviles, Antoni Hurtado

Int J Mol Sci. 2018 Dec; 19(12): 4123. Published online 2018 Dec 19. doi: 10.3390/ijms19124123

PMCID:: PMC6321185

Article PDF–2.8M

Select item 631010213.

Interactome and proteome dynamics uncover immune modulatory associations of the pathogen sensing factor cGAS

Krystal K. Lum, Bokai Song, Joel D. Federspiel, Benjamin A. Diner, Timothy Howard, Ileana M. Cristea

Cell Syst. Author manuscript; available in PMC 2019 Dec 26.

Published in final edited form as: Cell Syst. 2018 Dec 26; 7(6): 627–642.e6. Published online 2018 Nov 21. doi: 10.1016/j.cels.2018.10.010

PMCID:: PMC6310102

Article PDF–3.5M

Select item 138022514.

A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease

Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S. K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers, Fabienne Wavrant-De Vrièze, Mona Kaleem, Paul Hollingworth, Luke Jehu, Catherine Foy, Nicola Archer, Gillian Hamilton, Peter Holmans, Chris M. Morris, Joseph Catanese, John Sninsky, Thomas J. White, John Powell, John Hardy, Michael O’Donovan, Simon Lovestone, Lesley Jones, John C. Morris, Leon Thal, Michael Owen, Julie Williams, Alison Goate

Am J Hum Genet. 2006 Jan; 78(1): 78–88. Published online 2005 Nov 15. doi: 10.1086/498851

PMCID:: PMC1380225

Article PDF–329K

Select item 988113615.

The histone acetyltransferase KAT6A is recruited to unmethylated CpG islands via a DNA binding winged helix domain

Lisa Marie Weber, Yulin Jia, Bastian Stielow, Stephen S Gisselbrecht, Yinghua Cao, Yanpeng Ren, Iris Rohner, Jessica King, Elisabeth Rothman, Sabrina Fischer, Clara Simon, Ignasi Forné, Andrea Nist, Thorsten Stiewe, Martha L Bulyk, Zhanxin Wang, Robert Liefke

Nucleic Acids Res. 2023 Jan 25; 51(2): 574–594. Published online 2022 Dec 20. doi: 10.1093/nar/gkac1188

PMCID:: PMC9881136

Article PDF–4.4M

Select item 992246816.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia

Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen

J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0

PMCID:: PMC9922468

Article PDF–4.9M

Select item 792741517.

FBW7 suppresses ovarian cancer development by targeting the N⁶-methyladenosine binding protein YTHDF2

Fei Xu, Jiajia Li, Mengdong Ni, Jingyi Cheng, Haiyun Zhao, Shanshan Wang, Xiang Zhou, Xiaohua Wu

Mol Cancer. 2021; 20: 45. Published online 2021 Mar 3. doi: 10.1186/s12943-021-01340-8

PMCID:: PMC7927415

Article PDF–2.9M

Select item 995018318.

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

Daphne J. Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A. A. Demmers, Dick H. W. Dekkers, Antonio Romito, Peter J. van der Spek, Tjakko J. van Ham, Aida M. Bertoli-Avella, Grazia M. S. Mancini

Hum Genet. 2023; 142(3): 379–397. Published online 2022 Dec 20. doi: 10.1007/s00439-022-02511-3

PMCID:: PMC9950183

Article PDF–2.4M

Select item 752544119.

Mutual regulation between OGT and XIAP to control colon cancer cell growth and invasion

Hyeon Gyu Seo, Han Byeol Kim, Ji Young Yoon, Tae Hyun Kweon, Yun Soo Park, Jingu Kang, Jinwoo Jung, SeongJin Son, Eugene C. Yi, Tae Ho Lee, Won Ho Yang, Jin Won Cho

Cell Death Dis. 2020 Sep; 11(9): 815. Published online 2020 Sep 29. doi: 10.1038/s41419-020-02999-5

PMCID:: PMC7525441

Article PDF–3.7M

Select item 956995520.

A Degradation Motif in STAU1 Defines a Novel Family of Proteins Involved in Inflammation

Yulemi Gonzalez Quesada, Luc DesGroseillers

Int J Mol Sci. 2022 Oct; 23(19): 11588. Published online 2022 Sep 30. doi: 10.3390/ijms231911588

PMCID:: PMC9569955

Article PDF–2.1M

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