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Select item 57572691.

Mediator Complex Subunits MED2, MED5, MED16, and MED23 Genetically Interact in the Regulation of Phenylpropanoid Biosynthesis

Whitney L. Dolan, Brian P. Dilkes, Jake M. Stout, Nicholas D. Bonawitz, Clint Chapple

Plant Cell. 2017 Dec; 29(12): 3269–3285. Published online 2017 Dec 4. doi: 10.1105/tpc.17.00282

PMCID:: PMC5757269

Abstract Article PDF–2.7M

Select item 37500462.

Functional Studies of the Yeast Med5, Med15 and Med16 Mediator Tail Subunits

Miriam Larsson, Hanna Uvell, Jenny Sandström, Patrik Rydén, Luke A. Selth, Stefan Björklund

PLoS One. 2013; 8(8): e73137. Published online 2013 Aug 22. doi: 10.1371/journal.pone.0073137

PMCID:: PMC3750046

Abstract Article PDF–834K

Select item 36208873.

Bilateral hereditary micro-epiphyseal dysplasia: Further delineation of the phenotype with 40 years follow-up

A. Mostert, B. Jansen, P. Dijkstra, E. Wesby-van Swaay, J. van Horn, P. Heutink, D. Lindhout

Int Orthop. 2002 Jun; 26(3): 188–193. Published online 2002 Apr 16. doi: 10.1007/s00264-002-0341-9

PMCID:: PMC3620887

Summary PDF–108K

Select item 33679264.

Med5(Nut1) and Med17(Srb4) Are Direct Targets of Mediator Histone H4 Tail Interactions

Zhongle Liu, Lawrence C. Myers

PLoS One. 2012; 7(6): e38416. Published online 2012 Jun 5. doi: 10.1371/journal.pone.0038416

PMCID:: PMC3367926

Abstract Article PDF–1.8M

Select item 66257225.

XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease

Katarzyna A. Piróg, Ella P. Dennis, Claire L. Hartley, Robert M. Jackson, Jamie Soul, Jean-Marc Schwartz, John F. Bateman, Raymond P. Boot-Handford, Michael D. Briggs

PLoS Genet. 2019 Jul; 15(7): e1008215. Published online 2019 Jul 1. doi: 10.1371/journal.pgen.1008215

PMCID:: PMC6625722

Abstract Article PDF–5.1M

Select item 33271876.

The Mediator Complex in Plants: Structure, Phylogeny, and Expression Profiling of Representative Genes in a Dicot (Arabidopsis) and a Monocot (Rice) during Reproduction and Abiotic Stress

Saloni Mathur, Shailendra Vyas, Sanjay Kapoor, Akhilesh Kumar Tyagi

Plant Physiol. 2011 Dec; 157(4): 1609–1627. Published online 2011 Oct 21. doi: 10.1104/pp.111.188300

PMCID:: PMC3327187

Abstract Article PDF–2.6M

Select item 31334157.

Mediator Influences Telomeric Silencing and Cellular Life Span

Xuefeng Zhu, Beidong Liu, Jonas O. P. Carlsten, Jenny Beve, Thomas Nyström, Lawrence C. Myers, Claes M. Gustafsson

Mol Cell Biol. 2011 Jun; 31(12): 2413–2421. doi: 10.1128/MCB.05242-11

PMCID:: PMC3133415

Abstract Article PDF–935K

Select item 24756208.

Comparative genomics supports a deep evolutionary origin for the large, four-module transcriptional mediator complex

Henri-Marc Bourbon

Nucleic Acids Res. 2008 Jul; 36(12): 3993–4008. Published online 2008 May 31. doi: 10.1093/nar/gkn349

PMCID:: PMC2475620

Abstract Article PDF–10M

Select item 14564029.

A Functional Module of Yeast Mediator That Governs the Dynamic Range of Heat-Shock Gene Expression

Harpreet Singh, Alexander M. Erkine, Selena B. Kremer, Harry M. Duttweiler, Donnie A. Davis, Jabed Iqbal, Rachel R. Gross, David S. Gross

Genetics. 2006 Apr; 172(4): 2169–2184. doi: 10.1534/genetics.105.052738

PMCID:: PMC1456402

Abstract Article PDF–599K

Select item 1013990010.

Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children

Volkan Kizilkaya, Sami Engin, Ali Tunc, Alparslan Tonbul

Int J Surg Case Rep. 2023 May; 106: 108179. Published online 2023 Apr 12. doi: 10.1016/j.ijscr.2023.108179

PMCID:: PMC10139900

Abstract Article PDF–407K

Select item 986735511.

Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3

Ella P. Dennis, Robyn N. Watson, Florence McPate, Michael D. Briggs

Int J Mol Sci. 2023 Jan; 24(2): 1496. Published online 2023 Jan 12. doi: 10.3390/ijms24021496

PMCID:: PMC9867355

Abstract Article PDF–1.9M

Select item 849008612.

Draft Genome Sequences and Genomic Analysis for Pigment Production in Bacteria Isolated from Blue Discolored Soymilk and Tofu

Marina E. De León, Harriet S. Wilson, Guillaume Jospin, Jonathan A. Eisen

J Genomics. 2021; 9: 55–67. Published online 2021 Sep 23. doi: 10.7150/jgen.65500

PMCID:: PMC8490086

Abstract Article PDF–2.7M

Select item 810675013.

Effect of varying quantities of lean beef as part of a Mediterranean-style dietary pattern on lipids and lipoproteins: a randomized crossover controlled feeding trial

Jennifer A Fleming, Penny M Kris-Etherton, Kristina S Petersen, David J Baer

Am J Clin Nutr. 2021 May; 113(5): 1126–1136. Published online 2021 Apr 7. doi: 10.1093/ajcn/nqaa375

PMCID:: PMC8106750

Abstract Article PDF–3.1M

Select item 398475714.

Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study

Sang Gyo Seo, Hae-Ryong Song, Hyun Woo Kim, Won Joon Yoo, Jong Sup Shim, Chin Youb Chung, Moon Seok Park, Chang-Wug Oh, Changhoon Jeong, Kwang Soon Song, Ok-Hwa Kim, Sung Sup Park, In Ho Choi, Tae-Joon Cho

BMC Musculoskelet Disord. 2014; 15: 84. Published online 2014 Mar 15. doi: 10.1186/1471-2474-15-84

PMCID:: PMC3984757

Abstract Article PDF–1.0M

Select item 811097615.

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment

Benjamin M. Nash, Christopher J. G. Watson, Edward Hughes, Alec L. Hou, To Ha Loi, Bruce Bennetts, Diana Jelovic, Philip J. Polkinghorne, Mark Gorbatov, John R. Grigg, Andrea L. Vincent, Robyn V. Jamieson

Eur J Hum Genet. 2021 May; 29(5): 881–886. Published online 2021 Feb 25. doi: 10.1038/s41431-021-00820-1

PMCID:: PMC8110976

Abstract Article PDF–732K

Select item 794025816.

Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias

Yann Pretemer, Shunsuke Kawai, Sanae Nagata, Megumi Nishio, Makoto Watanabe, Sakura Tamaki, Cantas Alev, Yoshihiro Yamanaka, Jing-Yi Xue, Zheng Wang, Kenichi Fukiage, Masako Tsukanaka, Tohru Futami, Shiro Ikegawa, Junya Toguchida

Stem Cell Reports. 2021 Mar 9; 16(3): 610–625. Published online 2021 Feb 25. doi: 10.1016/j.stemcr.2021.01.014

PMCID:: PMC7940258

Abstract Article PDF–6.6M

Select item 714054817.

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report

Thuong Thi Ho, Linh Huyen Tran, Lan Thu Hoang, Phuong Kim Thi Doan, Trang Thi Nguyen, Trang Hong Nguyen, Hoai Thu Tran, Ha Hoang, Ha Hoang Chu, Anh Lan Thi Luong

BMC Musculoskelet Disord. 2020; 21: 216. Published online 2020 Apr 7. doi: 10.1186/s12891-020-03222-4

PMCID:: PMC7140548

Abstract Article PDF–3.7M

Select item 701913518.

Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia

Yang Xu, Li Li, Chun Wang, Hua Yue, Hao Zhang, Jiemei Gu, Weiwei Hu, Lianyong Liu, Zhenlin Zhang

Int J Biol Sci. 2020; 16(5): 859–868. Published online 2020 Jan 16. doi: 10.7150/ijbs.38811

PMCID:: PMC7019135

Abstract Article PDF–1.6M

Select item 677424819.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

Laura S. Farach, Mary E. Little, Angela L. Duker, Clare V. Logan, Andrew Jackson, Jaqueline T. Hecht, Michael Bober

Am J Med Genet A. Author manuscript; available in PMC 2019 Oct 2.

Published in final edited form as: Am J Med Genet A. 2018 Feb; 176(2): 465–469. Published online 2017 Dec 19. doi: 10.1002/ajmg.a.38581

PMCID:: PMC6774248

Abstract Article PDF–348K

Select item 642433420.

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia

Vinod Dasa, James R.B. Eastwood, Michal Podgorski, Heewon Park, Christopher Blackstock, Tetyana Antoshchenko, Piotr Rogala, Tadeusz Bieganski, S. Michal Jazwinski, Malwina Czarny-Ratajczak

Am J Med Genet A. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Am J Med Genet A. 2019 Apr; 179(4): 534–541. Published online 2019 Feb 10. doi: 10.1002/ajmg.a.61049