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Items: 1 to 20 of 32

1.
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates
Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert
Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644
PMCID:
PMC10565876
AbstractArticlePDF–3.7M
2.
Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Katerina Slaba, Marta Jezova, Petra Pokorna, Hana Palova, Jana Tuckova, Jan Papez, Dagmar Prochazkova, Petr Jabandziev, Ondrej Slaby
Mol Genet Genomic Med. 2023 May; 11(5): e2139. Published online 2023 Jan 25. doi: 10.1002/mgg3.2139
PMCID:
PMC10178803
AbstractArticlePDF–2.5M
3.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
4.
A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins
Danielle G. May, Laura Martin-Sancho, Valesca Anschau, Sophie Liu, Rachel J. Chrisopulos, Kelsey L. Scott, Charles T. Halfmann, Ramon Díaz Peña, Dexter Pratt, Alexandre R. Campos, Kyle J. Roux
Viruses. 2022 Mar; 14(3): 611. Published online 2022 Mar 15. doi: 10.3390/v14030611
PMCID:
PMC8951556
AbstractArticlePDF–4.4M
5.
Evaluation of MYRF as a candidate gene for primary angle closure glaucoma
Xiaowei Yu, Nannan Sun, Congcong Guo, Zhenni Zhao, Meifang Ye, Jiamin Zhang, Jian Ge, Zhigang Fan
Mol Vis. 2021; 27: 734–740. Published online 2021 Dec 29.
PMCID:
PMC8763663
AbstractArticlePDF–1.1M
6.
MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases
Hao Huang, Fang Zhou, Shiyou Zhou, Mengsheng Qiu
Neurosci Bull. 2021 Jun; 37(6): 881–884. Published online 2021 Apr 17. doi: 10.1007/s12264-021-00678-9
PMCID:
PMC8192642
ArticlePDF–466K
7.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
8.
Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects
Chuandong Fan, Hongjoo An, Mohamed Sharif, Dongkyeong Kim, Yungki Park
J Biol Chem. 2021 Jan-Jun; 296: 100612. Published online 2021 Mar 30. doi: 10.1016/j.jbc.2021.100612
PMCID:
PMC8094900
AbstractArticlePDF–3.6M
9.
Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports
Beata Pepłońska, Agata Piestrzynska-Kajtoch, Kinga Humińska-Lisowska, Jakub Grzegorz Adamczyk, Marcin Siewierski, Artur Gurgul, Agnieszka Fornal, Monika Michałowska-Sawczyn, Cezary Żekanowski, Paweł Cięszczyk, Mariusz Berdyński
Genes (Basel) 2021 Feb; 12(2): 262. Published online 2021 Feb 11. doi: 10.3390/genes12020262
PMCID:
PMC7917663
AbstractArticlePDF–235K
10.
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort
Owen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, Sandra E Staffieri, Lisa S Kearns, Kate Laurie, Abraham Kuot, Ayub Qassim, Thomas L Edwards, Michael A Coote, Erica Mancel, Mark J Walland, Joanne Dondey, Anna Galanopoulous, Robert J Casson, Richard A Mills, Daniel G MacArthur, Jonathan B Ruddle, Kathryn P Burdon, Jamie E Craig
Clin Genet. Author manuscript; available in PMC 2021 Jan 18.
Published in final edited form as: Clin Genet. 2020 May; 97(5): 764–769. Published online 2020 Mar 5. doi: 10.1111/cge.13722
PMCID:
PMC7811993
AbstractArticlePDF–755K
11.
Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects
Hongjoo An, Chuandong Fan, Mohamed Sharif, Dongkyeong Kim, Yannick Poitelon, Yungki Park
Sci Rep. 2020; 10: 814. Published online 2020 Jan 21. doi: 10.1038/s41598-020-57593-8
PMCID:
PMC6972908
AbstractArticlePDF–3.6M
12.
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF
Owen M. Siggs, Emmanuelle Souzeau, James Breen, Ayub Qassim, Tiger Zhou, Andrew Dubowsky, Jonathan B. Ruddle, Jamie E. Craig
Mol Vis. 2019; 25: 527–534. Published online 2019 Sep 21.
PMCID:
PMC6817736
AbstractArticlePDF–2.9M
13.
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
Xueshan Xiao, Wenmin Sun, Jiamin Ouyang, Shiqiang Li, Xiaoyun Jia, Zhiqun Tan, J. Fielding Hejtmancik, Qingjiong Zhang
Hum Genet. 2019; 138(10): 1077–1090. Published online 2019 Jun 6. doi: 10.1007/s00439-019-02039-z
PMCID:
PMC6745028
AbstractArticlePDF–5.3M
14.
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF
Linda Z. Rossetti, Kevin Glinton, Bo Yuan, Pengfei Liu, Nishitha Pillai, Elizabeth Mizerik, Pilar Magoulas, Jill A. Rosenfeld, Lefkothea Karaviti, V. Reid Sutton, Seema R. Lalani, Daryl A. Scott
Am J Med Genet A. Author manuscript; available in PMC 2020 Jul 1.
Published in final edited form as: Am J Med Genet A. 2019 Jul; 179(7): 1376–1382. Published online 2019 May 8. doi: 10.1002/ajmg.a.61182
PMCID:
PMC6557668
AbstractArticlePDF–203K
15.
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
Sarah J. Garnai, Michelle L. Brinkmeier, Ben Emery, Tomas S. Aleman, Louise C. Pyle, Biliana Veleva-Rotse, Robert A. Sisk, Frank W. Rozsa, Ayse Bilge Ozel, Jun Z. Li, Sayoko E. Moroi, Steven M. Archer, Cheng-mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E. Urquhart, Graeme C.M. Black, Mohammad I. Othman, Michael Boehnke, Scot A. Sullivan, Gregory L. Skuta, Hemant S. Pawar, Alexander E. Katz, Laryssa A. Huryn, Robert B. Hufnagel, The Genomic Ascertainment Cohort, Sally A. Camper, Julia E. Richards, Lev Prasov
PLoS Genet. 2019 May; 15(5): e1008130. Published online 2019 May 2. doi: 10.1371/journal.pgen.1008130
PMCID:
PMC6527243
AbstractArticlePDF–6.4M
16.
The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2
Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari
Mol Cell. Author manuscript; available in PMC 2020 Feb 21.
Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001
PMCID:
PMC6386588
AbstractArticlePDF–1.7M
17.
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Gudrun Aspelund, Foong-Yen Lim, Timothy Crombleholme, Robert Cusick, Kenneth Azarow, Melissa E. Danko, Dai Chung, Brad W. Warner, George B. Mychaliska, Douglas Potoka, Amy J. Wagner, Mahmoud ElFiky, Jay M. Wilson, Debbie Nickerson, Michael Bamshad, Frances A. High, Mauro Longoni, Patricia K. Donahoe, Wendy K. Chung, Yufeng Shen
PLoS Genet. 2018 Dec; 14(12): e1007822. Published online 2018 Dec 10. doi: 10.1371/journal.pgen.1007822
PMCID:
PMC6301721
AbstractArticlePDF–2.7M
18.
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies
Hailey Pinz, Louise C. Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R. Braddock, Aida Telegrafi, Kristin G. Monaghan, Elaine Zackai, Elizabeth J. Bhoj
Am J Med Genet A. Author manuscript; available in PMC 2019 Apr 1.
Published in final edited form as: Am J Med Genet A. 2018 Apr; 176(4): 969–972. Published online 2018 Feb 15. doi: 10.1002/ajmg.a.38620
PMCID:
PMC5867271
AbstractArticlePDF–72K
19.
Homo-trimerization is essential for the transcription factor function of Myrf for oligodendrocyte differentiation
Dongkyeong Kim, Jin-ok Choi, Chuandong Fan, Randall S. Shearer, Mohamed Sharif, Patrick Busch, Yungki Park
Nucleic Acids Res. 2017 May 19; 45(9): 5112–5125. Published online 2017 Feb 4. doi: 10.1093/nar/gkx080
PMCID:
PMC5436001
AbstractArticlePDF–6.6M
20.
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk
Ben Zhang, Wei-Hua Jia, Koichi Matsuda, Sun-Seog Kweon, Keitaro Matsuo, Yong-Bing Xiang, Aesun Shin, Sun Ha Jee, Dong-Hyun Kim, Qiuyin Cai, Jirong Long, Jiajun Shi, Wanqing Wen, Gong Yang, Yanfeng Zhang, Chun Li, Bingshan Li, Yan Guo, Zefang Ren, Bu-Tian Ji, Zhi-Zhong Pan, Atsushi Takahashi, Min-Ho Shin, Fumihiko Matsuda, Yu-Tang Gao, Jae Hwan Oh, Soriul Kim, Yoon-Ok Ahn, Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), Andrew T Chan, Jenny Chang-Claude, Martha L. Slattery, Colorectal Transdisciplinary (CORECT) Study, Stephen B. Gruber, Fredrick R. Schumacher, Stephanie L. Stenzel, Colon Cancer Family Registry (CCFR), Graham Casey, Hyeong-Rok Kim, Jin-Young Jeong, Ji Won Park, Hong-Lan Li, Satoyo Hosono, Sang-Hee Cho, Michiaki Kubo, Xiao-Ou Shu, Yi-Xin Zeng, Wei Zheng
Nat Genet. Author manuscript; available in PMC 2014 Dec 1.
Published in final edited form as: Nat Genet. 2014 Jun; 46(6): 533–542. Published online 2014 May 18. doi: 10.1038/ng.2985
PMCID:
PMC4068797
AbstractArticlePDF–597K

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