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Select item 71380321.

The Arabidopsis RRM domain protein EDM3 mediates race-specific disease resistance by controlling H3K9me2-dependent alternative polyadenylation of RPP7 immune receptor transcripts

Yan Lai, Alayne Cuzick, Xueqing M. Lu, Jianqiang Wang, Neerja Katiyar, Tokuji Tsuchiya, Karine Le Roch, John M. McDowell, Eric Holub, Thomas Eulgem

Plant J. Author manuscript; available in PMC 2020 Apr 7.

Published in final edited form as: Plant J. 2019 Feb; 97(4): 646–660. Published online 2018 Dec 18. doi: 10.1111/tpj.14148

PMCID:: PMC7138032

Abstract Article PDF–701K

Select item 75292452.

The Arabidopsis PHD-finger protein EDM2 has multiple roles in balancing NLR immune receptor gene expression

Yan Lai, Xueqing Maggie Lu, Josquin Daron, Songqin Pan, Jianqiang Wang, Wei Wang, Tokuji Tsuchiya, Eric Holub, John M. McDowell, R. Keith Slotkin, Karine G. Le Roch, Thomas Eulgem

PLoS Genet. 2020 Sep; 16(9): e1008993. Published online 2020 Sep 14. doi: 10.1371/journal.pgen.1008993

PMCID:: PMC7529245

Abstract Article PDF–3.4M

Select item 102149293.

Wolcott-Rallison syndrome: a case series of three patients

Fozia Memon, Muzna Arif, Salman Kirmani, Khadija N. Humayun

Pediatr Endocrinol Diabetes Metab. 2022 Sep; 28(3): 238–240. Published online 2022 Sep 14. doi: 10.5114/pedm.2022.118325

PMCID:: PMC10214929

Abstract Article PDF–540K

Select item 94986594.

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4

Tatiana Markova, Vladimir Kenis, Evgenii Melchenko, Aynur Alieva, Tatiana Nagornova, Anna Orlova, Natalya Ogorodova, Olga Shchagina, Alexander Polyakov, Elena Dadali, Sergey Kutsev

Genes (Basel) 2022 Sep; 13(9): 1512. Published online 2022 Aug 24. doi: 10.3390/genes13091512

PMCID:: PMC9498659

Abstract Article PDF–5.3M

Select item 72516935.

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia

Jiashen Shao, Sen Zhao, Zihui Yan, Lianlei Wang, Yuanqiang Zhang, Mao Lin, Chenxi Yu, Shengru Wang, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Jianguo Zhang, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Zhihong Wu, Nan Wu

BMC Med Genet. 2020; 21: 115. Published online 2020 May 27. doi: 10.1186/s12881-020-01040-y

PMCID:: PMC7251693

Abstract Article PDF–3.3M

Select item 71405486.

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 61890447.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Caroline Michot, Carine Le Goff, Edward Blair, Patricia Blanchet, Yline Capri, Brigitte Gilbert-Dussardier, Alice Goldenberg, Alex Henderson, Bertrand Isidor, Hulya Kayserili, Esther Kinning, Martine Le Merrer, Stanislas Lyonnet, Sylvie Odent, Pelin Ozlem Simsek-Kiper, Chloé Quelin, Ravi Savarirayan, Marleen Simon, Miranda Splitt, Judith M.A. Verhagen, Alain Verloes, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

Eur J Hum Genet. 2018 Nov; 26(11): 1611–1622. Published online 2018 Jul 13. doi: 10.1038/s41431-018-0135-1

PMCID:: PMC6189044

Abstract Article PDF–1.1M

Select item 55374168.

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Long Guo, Nursel H Elcioglu, Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa

J Hum Genet. 2017 Aug; 62(8): 797–801. Published online 2017 Mar 23. doi: 10.1038/jhg.2017.38

PMCID:: PMC5537416

Abstract Article PDF–1.5M

Select item 43349619.

Increased Classical Endoplasmic Reticulum Stress Is Sufficient to Reduce Chondrocyte Proliferation Rate in the Growth Plate and Decrease Bone Growth

Louise H. W. Kung, M. Helen Rajpar, Richard Preziosi, Michael D. Briggs, Raymond P. Boot-Handford

PLoS One. 2015; 10(2): e0117016. Published online 2015 Feb 18. doi: 10.1371/journal.pone.0117016

PMCID:: PMC4334961

Abstract Article PDF–15M

Select item 423647410.

Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report

Changhoon Jeong, Jae Young Lee, Jiyeon Kim, Hyojin Chae, Hae-il Park, Myungshin Kim, Ok-Hwa Kim, Paul Kim, Young Kee Lee, Jongsun Jung

BMC Musculoskelet Disord. 2014; 15: 371. Published online 2014 Nov 8. doi: 10.1186/1471-2474-15-371

PMCID:: PMC4236474

Abstract Article PDF–1.2M

Select item 415986811.

Matrilin-3 Chondrodysplasia Mutations Cause Attenuated Chondrogenesis, Premature Hypertrophy and Aberrant Response to TGF-β in Chondroprogenitor Cells

Chathuraka T. Jayasuriya, Fiona H. Zhou, Ming Pei, Zhengke Wang, Nicholas J. Lemme, Paul Haines, Qian Chen

Int J Mol Sci. 2014 Aug; 15(8): 14555–14573. Published online 2014 Aug 21. doi: 10.3390/ijms150814555

PMCID:: PMC4159868

Abstract Article PDF–2.1M

Select item 411123812.

FGFR3 induces degradation of BMP type I receptor to regulate skeletal development

Huabing Qi, Min Jin, Yaqi Duan, Xiaolan Du, Yuanquan Zhang, Fangli Ren, Yinyin Wang, Qingyun Tian, Xiaofeng Wang, Quan Wang, Ying Zhu, Yangli Xie, Chuanju Liu, Xu Cao, Yuji Mishina, Di Chen, Chu-xia Deng, Zhijie Chang, Lin Chen

Biochim Biophys Acta. Author manuscript; available in PMC 2014 Jul 25.

Published in final edited form as: Biochim Biophys Acta. 2014 Jul; 1843(7): 1237–1247. Published online 2014 Mar 20. doi: 10.1016/j.bbamcr.2014.03.011

PMCID:: PMC4111238

Abstract Article PDF–1.7M

Select item 398475713.

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 365038514.

Comparative Proteomic Analysis of Normal and Collagen IX Null Mouse Cartilage Reveals Altered Extracellular Matrix Composition and Novel Components of the Collagen IX Interactome

Bent Brachvogel, Frank Zaucke, Keyur Dave, Emma L. Norris, Jacek Stermann, Münire Dayakli, Manuel Koch, Jeffrey J. Gorman, John F. Bateman, Richard Wilson

J Biol Chem. 2013 May 10; 288(19): 13481–13492. Published online 2013 Mar 24. doi: 10.1074/jbc.M112.444810

PMCID:: PMC3650385

Abstract Article PDF–2.0M

Select item 355736915.

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

Gail C Jackson, Dominique Marcus-Soekarman, Irene Stolte-Dijkstra, Aad Verrips, Jacqueline A Taylor, Michael D Briggs

Am J Med Genet A. 2010 Apr; 152A(4): 863–869. Published online 2012 Mar 26. doi: 10.1002/ajmg.a.33240

PMCID:: PMC3557369

Abstract Article PDF–202K

Select item 327222016.

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

Gail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, Geert R Mortier, Juergen Spranger, Bernhard Zabel, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Amaka Offiah, Michael J Wright, Ravi Savarirayan, Gen Nishimura, Simon C Ramsden, Rob Elles, Luisa Bonafe, Andrea Superti-Furga, Sheila Unger, Andreas Zankl, Michael D Briggs

Hum Mutat. 2012 Jan; 33(1): 144–157. Published online 2011 Sep 15. doi: 10.1002/humu.21611

PMCID:: PMC3272220

Abstract Article PDF–428K

Select item 289677217.

Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4

David M. Alvarado, Hyuliya Aferol, Kevin McCall, Jason B. Huang, Matthew Techy, Jillian Buchan, Janet Cady, Patrick R. Gonzales, Matthew B. Dobbs, Christina A. Gurnett

Am J Hum Genet. 2010 Jul 9; 87(1): 154–160. doi: 10.1016/j.ajhg.2010.06.010

PMCID:: PMC2896772

Abstract Article PDF–539K

Select item 282331918.

Multiple epiphyseal dysplasia: A clinical and genetic study of 12 cases in a Swedish 6-generation family

Johanna Dahlqvist, Hanna Örlén, Hans Matsson, Niklas Dahl, Torsten LÖnnerholm, Karl-Henrik Gustavson

Acta Orthop. 2009 Dec 4; 80(6): 711–715. Published online 2009 Dec 4. doi: 10.3109/17453670903473032

PMCID:: PMC2823319

Abstract Article PDF–815K

Select item 272695619.

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

Sally L Cotterill, Gail C Jackson, Matthew P Leighton, Raimund Wagener, Outi Mäkitie, William G Cole, Michael D Briggs

Hum Mutat. 2005 Dec; 26(6): 557–565. doi: 10.1002/humu.20263

PMCID:: PMC2726956

Abstract Article PDF–333K

Select item 271777220.

The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding

Kemin Tan, Mark Duquette, Andrzej Joachimiak, Jack Lawler

FASEB J. 2009 Aug; 23(8): 2490–2501. doi: 10.1096/fj.08-128090

PMCID:: PMC2717772

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