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Items: 1 to 20 of 77

1.
Human forebrain organoid-based multi-omics analyses of PCCB as a schizophrenia associated gene linked to GABAergic pathways
Wendiao Zhang, Ming Zhang, Zhenhong Xu, Hongye Yan, Huimin Wang, Jiamei Jiang, Juan Wan, Beisha Tang, Chunyu Liu, Chao Chen, Qingtuan Meng
Nat Commun. 2023; 14: 5176. Published online 2023 Aug 24. doi: 10.1038/s41467-023-40861-2
PMCID:
PMC10449845
ArticlePDF–3.7M
2.
Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian
Yao Chen, Xuehua Lin, Qingying Lin, Yinglin Zeng, Xiaolong Qiu, Guanghua Liu, Wenbin Zhu
Medicine (Baltimore) 2021 Mar 12; 100(10): e24161. Published online 2021 Mar 12. doi: 10.1097/MD.0000000000024161
PMCID:
PMC7969319
ArticlePDF–571K
3.
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
P Rodríguez-Pombo, J Hoenicka, S Muro, B Pérez, C Pérez-Cerdá, E Richard, L R Desviat, M Ugarte
Am J Hum Genet. 1998 Aug; 63(2): 360–369. doi: 10.1086/301970
Correction in:
Am J Hum Genet. 1999 Nov; 65(5): 1486.
PMCID:
PMC1377311
SummaryPDF–432K
4.
Two PstI RFLPs in the PCCB gene on the long arm of chromosome 3.
J S Waye, R A Gravel, H F Willard
Nucleic Acids Res. 1988 Mar 25; 16(5 Pt B): 2362. doi: 10.1093/nar/16.5.2362
PMCID:
PMC338248
ArticlePDF–75K
5.
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
T Tahara, J P Kraus, L E Rosenberg
Proc Natl Acad Sci U S A. 1990 Feb; 87(4): 1372–1376. doi: 10.1073/pnas.87.4.1372
PMCID:
PMC53477
ArticlePDF–1.0M
6.
Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing
Igor Bychkov, Artur Galushkin, Alexandra Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Skoblov, Ekaterina Zakharova
Int J Mol Sci. 2021 Apr; 22(8): 4154. Published online 2021 Apr 16. doi: 10.3390/ijms22084154
PMCID:
PMC8073151
ArticlePDF–1.7M
7.
Propionyl-CoA Carboxylase- A Review
Parith Wongkittichote, Nicholas Ah Mew, Kimberly A Chapman
Mol Genet Metab. Author manuscript; available in PMC 2018 Dec 1.
Published in final edited form as: Mol Genet Metab. 2017 Dec; 122(4): 145–152. Published online 2017 Oct 7. doi: 10.1016/j.ymgme.2017.10.002
PMCID:
PMC5725275
ArticlePDF–211K
8.
Crystal structure of the a6ß6 holoenzyme of propionyl-coenzyme A carboxylase
Christine S. Huang, Kianoush Sadre-Bazzaz, Yang Shen, Binbin Deng, Z. Hong Zhou, Liang Tong
Nature. Author manuscript; available in PMC 2011 Feb 1.
Published in final edited form as: Nature. 2010 Aug 19; 466(7309): 1001–1005. doi: 10.1038/nature09302
PMCID:
PMC2925307
ArticlePDF–1.3M
9.
Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.
A M Lamhonwah, T J Barankiewicz, H F Willard, D J Mahuran, F Quan, R A Gravel
Proc Natl Acad Sci U S A. 1986 Jul; 83(13): 4864–4868. doi: 10.1073/pnas.83.13.4864
PMCID:
PMC323843
ArticlePDF–1.1M
10.
Association of Novel Genetic Loci with Circulating Fibrinogen Levels: A Genome-Wide Association Study in Six Population-Based Cohorts: Dehghan Genome-wide Association Study on Fibrinogen
Abbas Dehghan, Qiong Yang, Annette Peters, Saonli Basu, Joshua C. Bis, Alicja R. Rudnicka, Maryam Kavousi, Ming-Huei Chen, Jens Baumert, Gordon D. O Lowe, Barbara McKnight, Weihong Tang, Moniek de Maat, Martin G. Larson, Susana Eyhermendy, Wendy L. McArdle, Thomas Lumley, James S. Pankow, Albert Hofman, Joseph M. Massaro, Fernando Rivadeneira, Melanie Kolz, Kent D. Taylor, Cornelia M. van Duijn, Sekar Kathiresan, Thomas Illig, Yurii S. Aulchenko, Kelly A. Volcik, Andrew D. Johnson, Andre G. Uitterlinden, Geoffrey H. Tofler, Christian Gieger, Wellcome Trust Case Control Consortium, Bruce M. Psaty, David J. Couper, Eric Boerwinkle, Wolfgang Koenig, Christopher J. O'Donnell, Jacqueline C. Witteman, David P. Strachan, Nicholas L. Smith, Aaron R. Folsom
Circ Cardiovasc Genet. Author manuscript; available in PMC 2010 Apr 1.
Published in final edited form as: Circ Cardiovasc Genet. 2009 Apr; 2(2): 125–133. doi: 10.1161/CIRCGENETICS.108.825224
PMCID:
PMC2764985
ArticlePDF–451K
11.
Noncanonical E2 Variant-Independent Function of UBC13 in Promoting Checkpoint Protein Assembly
Michael S. Y. Huen, Jun Huang, Jingsong Yuan, Masahiro Yamamoto, Shizuo Akira, Carolyn Ashley, Wei Xiao, Junjie Chen
Mol Cell Biol. 2008 Oct; 28(19): 6104–6112. Published online 2008 Aug 4. doi: 10.1128/MCB.00987-08
PMCID:
PMC2547017
ArticlePDF–3.9M
12.
Long noncoding RNA PiHL regulates p53 protein stability through GRWD1/RPL11/MDM2 axis in colorectal cancer
Xuan Deng, Sihan Li, Fanyang Kong, Haoyu Ruan, Xiao Xu, Xinju Zhang, Zhiyuan Wu, Lin Zhang, Ying Xu, Hong Yuan, Haixia Peng, Da Yang, Ming Guan
Theranostics. 2020; 10(1): 265–280. Published online 2020 Jan 1. doi: 10.7150/thno.36045
PMCID:
PMC6929633
ArticlePDF–3.0M
13.
LncRNA H19 Regulates Breast Cancer DNA Damage Response and Sensitivity to PARP Inhibitors via Binding to ILF2
Junsong Zhao, Junchao Xu, Mingming Wu, Wei Wang, Miaomiao Wang, Leiyan Yang, Huayong Cai, Qiao Xu, Ceshi Chen, Peter E. Lobie, Tao Zhu, Xinghua Han
Int J Mol Sci. 2023 Jun; 24(11): 9157. Published online 2023 May 23. doi: 10.3390/ijms24119157
PMCID:
PMC10252380
ArticlePDF–3.4M
14.
WWP2 is an E3 ubiquitin ligase for PTEN
Subbareddy Maddika, Sridhar Kavela, Neelam Rani, Vivek Reddy Palicharla, Jenny L. Pokorny, Jann N. Sarkaria, Junjie Chen
Nat Cell Biol. Author manuscript; available in PMC 2014 Feb 17.
Published in final edited form as: Nat Cell Biol. 2011 Jun; 13(6): 728–733. Published online 2011 May 1. doi: 10.1038/ncb2240
PMCID:
PMC3926303
ArticlePDF–1.6M
15.
Forty-Three Loci Associated with Plasma Lipoprotein Size, Concentration, and Cholesterol Content in Genome-Wide Analysis
Daniel I. Chasman, Guillaume Paré, Samia Mora, Jemma C. Hopewell, Gina Peloso, Robert Clarke, L. Adrienne Cupples, Anders Hamsten, Sekar Kathiresan, Anders Mälarstig, José M. Ordovas, Samuli Ripatti, Alex N. Parker, Joseph P. Miletich, Paul M. Ridker
PLoS Genet. 2009 Nov; 5(11): e1000730. Published online 2009 Nov 20. doi: 10.1371/journal.pgen.1000730
PMCID:
PMC2777390
ArticlePDF–462K
16.
A Multi-Ethnic Meta-Analysis of Genome-Wide Association Studies in Over 100,000 Subjects Identifies 23 Fibrinogen-Associated Loci but no Strong Evidence of a Causal Association between Circulating Fibrinogen and Cardiovascular Disease
Maria Sabater-Lleal, Jie Huang, Daniel Chasman, Silvia Naitza, Abbas Dehghan, Andrew D Johnson, Alexander Teumer, Alex P Reiner, Lasse Folkersen, Saonli Basu, Alicja R Rudnicka, Stella Trompet, Anders Mälarstig, Jens Baumert, Joshua C. Bis, Xiuqing Guo, Jouke J Hottenga, So-Youn Shin, Lorna M Lopez, Jari Lahti, Toshiko Tanaka, Lisa R Yanek, Tiphaine Oudot-Mellakh, James F Wilson, Pau Navarro, Jennifer E Huffman, Tatijana Zemunik, Susan Redline, Reena Mehra, Drazen Pulanic, Igor Rudan, Alan F Wright, Ivana Kolcic, Ozren Polasek, Sarah H Wild, Harry Campbell, J David Curb, Robert Wallace, Simin Liu, Charles B. Eaton, Diane M. Becker, Lewis C. Becker, Stefania Bandinelli, Katri Räikkönen, Elisabeth Widen, Aarno Palotie, Myriam Fornage, David Green, Myron Gross, Gail Davies, Sarah E Harris, David C Liewald, John M Starr, Frances M.K. Williams, P.J. Grant, Timothy D. Spector, Rona J Strawbridge, Angela Silveira, Bengt Sennblad, Fernando Rivadeneira, Andre G Uitterlinden, Oscar H Franco, Albert Hofman, Jenny van Dongen, G Willemsen, Dorret I Boomsma, Jie Yao, Nancy Swords Jenny, Talin Haritunians, Barbara McKnight, Thomas Lumley, Kent D Taylor, Jerome I Rotter, Bruce M Psaty, Annette Peters, Christian Gieger, Thomas Illig, Anne Grotevendt, Georg Homuth, Henry Völzke, Thomas Kocher, Anuj Goel, Maria Grazia Franzosi, Udo Seedorf, Robert Clarke, Maristella Steri, Kirill V Tarasov, Serena Sanna, David Schlessinger, David J Stott, Naveed Sattar, Brendan M Buckley, Ann Rumley, Gordon D Lowe, Wendy L McArdle, Ming-Huei Chen, Geoffrey H Tofler, Jaejoon Song, Eric Boerwinkle, Aaron R. Folsom, Lynda M. Rose, Anders Franco-Cereceda, Martina Teichert, M Arfan Ikram, Thomas H Mosley, Steve Bevan, Martin Dichgans, Peter M. Rothwell, Cathie L M Sudlow, Jemma C. Hopewell, John C. Chambers, Danish Saleheen, Jaspal S. Kooner, John Danesh, Christopher P Nelson, Jeanette Erdmann, Muredach P. Reilly, Sekar Kathiresan, Heribert Schunkert, Pierre-Emmanuel Morange, Luigi Ferrucci, Johan G Eriksson, David Jacobs, Ian J Deary, Nicole Soranzo, Jacqueline CM Witteman, Eco JC de Geus, Russell P. Tracy, Caroline Hayward, Wolfgang Koenig, Francesco Cucca, J Wouter Jukema, Per Eriksson, Sudha Seshadri, Hugh S. Markus, Hugh Watkins, Nilesh J Samani, VTE consortium, STROKE Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), C4D consortium, CARDIoGRAM consortium, Henri Wallaschofski, Nicholas L. Smith, David Tregouet, Paul M. Ridker, Weihong Tang, David P. Strachan, Anders Hamsten, Christopher J. O’Donnell
Circulation. Author manuscript; available in PMC 2014 Sep 17.
Published in final edited form as: Circulation. 2013 Sep 17; 128(12): 10.1161/CIRCULATIONAHA.113.002251. Published online 2013 Aug 22. doi: 10.1161/CIRCULATIONAHA.113.002251
PMCID:
PMC3842025
ArticlePDF–917K
17.
Fbxl17 is rearranged in breast cancer and loss of its activity leads to increased global O-GlcNAcylation
Bethany Mason, Susanne Flach, Felipe R. Teixeira, Raquel Manzano Garcia, Oscar M. Rueda, Jean E. Abraham, Carlos Caldas, Paul A. W. Edwards, Heike Laman
Cell Mol Life Sci. 2020 Jul; 77(13): 2605–2620. Published online 2019 Sep 27. doi: 10.1007/s00018-019-03306-y
PMCID:
PMC7320043
ArticlePDF–2.5M
18.
SIRT5 is a proviral factor that interacts with SARS-CoV-2 Nsp14 protein
Marius Walter, Irene P. Chen, Albert Vallejo-Gracia, Ik-Jung Kim, Olga Bielska, Victor L. Lam, Jennifer M. Hayashi, Andrew Cruz, Samah Shah, Frank W. Soveg, John D. Gross, Nevan J. Krogan, Keith R. Jerome, Birgit Schilling, Melanie Ott, Eric Verdin
PLoS Pathog. 2022 Sep; 18(9): e1010811. Published online 2022 Sep 12. doi: 10.1371/journal.ppat.1010811
PMCID:
PMC9499238
ArticlePDF–3.7M
19.
The RNF20/40 complex regulates p53-dependent gene transcription and mRNA splicing
Chen Wu, Yaqi Cui, Xiuhua Liu, Feng Zhang, Lin-Yu Lu, Xiaochun Yu
J Mol Cell Biol. 2020 Feb; 12(2): 113–124. Published online 2019 Jun 1. doi: 10.1093/jmcb/mjz045
PMCID:
PMC7109600
ArticlePDF–1.3M
20.
A cascading activity-based probe sequentially targets E1–E2–E3 ubiquitin enzymes
Monique P.C. Mulder, Katharina Witting, Ilana Berlin, Jonathan N. Pruneda, Kuen-Phon Wu, Jer-Gung Chang, Remco Merkx, Johanna Bialas, Marcus Groettrup, Alfred C.O. Vertegaal, Brenda A. Schulman, David Komander, Jacques Neefjes, Farid El Oualid, Huib Ovaa
Nat Chem Biol. Author manuscript; available in PMC 2017 Jan 1.
Published in final edited form as: Nat Chem Biol. 2016 Jul; 12(7): 523–530. Published online 2016 May 16. doi: 10.1038/nchembio.2084
PMCID:
PMC5108872
ArticlePDF–2.4M

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