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Items: 1 to 20 of 134

1.
Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family
Jian Ma, Ye Zhang, Xiaoxiao Ding, Zhijiang Liang, Chaoxiang Yang, Zhi Deng, Hui He, Zhihong Guan, Chunhua Zeng, Yunting Lin, Xianqiong Luo
Calcif Tissue Int. 2023; 113(3): 266–275. Published online 2023 Jun 6. doi: 10.1007/s00223-023-01104-0
PMCID:
PMC10449693
AbstractArticlePDF–1.6M
2.
Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell
Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low
Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120
PMCID:
PMC10151615
AbstractArticlePDF–2.9M
3.
Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations
Adam Jacobson, Cagri G. Besirli, Brenda L. Bohnsack
Genes (Basel) 2023 Apr; 14(4): 847. Published online 2023 Mar 31. doi: 10.3390/genes14040847
PMCID:
PMC10138194
AbstractArticlePDF–2.8M
4.
HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib Resistance by Suppressing Trim71-dependent RAF1 Degradation
Jingsheng Yuan, Tao Lv, Jian Yang, Zhenru Wu, Lvnan Yan, Jiayin Yang, Yujun Shi, Li Jiang
Cell Mol Gastroenterol Hepatol. 2023; 15(2): 307–325. Published online 2022 Oct 14. doi: 10.1016/j.jcmgh.2022.10.005
PMCID:
PMC9772558
AbstractArticlePDF–8.2M
5.
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
Till Joscha Demal, Tasja Scholz, Helke Schüler, Jakob Olfe, Anja Fröhlich, Fabian Speth, Yskert von Kodolitsch, Thomas S. Mir, Hermann Reichenspurner, Christian Kubisch, Maja Hempel, Georg Rosenberger
Sci Rep. 2022; 12: 4489. Published online 2022 Mar 16. doi: 10.1038/s41598-022-08476-7
PMCID:
PMC8927422
AbstractArticlePDF–2.9M
6.
A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I
Xiuzhen Liu, Hongliang Dong, Yuerong Gong, Lianqing Wang, Ruyi Zhang, Tihua Zheng, Yuxi Zheng, Shuang Shen, Chelsea Zheng, Mingming Tian, Naiguo Liu, Xiaolin Zhang, Qing Yin Zheng
J Cell Mol Med. 2022 Mar; 26(5): 1530–1539. Published online 2022 Jan 21. doi: 10.1111/jcmm.17187
PMCID:
PMC8899160
AbstractArticlePDF–1.1M
7.
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I
Tatyana Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
Genes (Basel) 2022 Jan; 13(1): 137. Published online 2022 Jan 13. doi: 10.3390/genes13010137
PMCID:
PMC8775336
AbstractArticlePDF–1.9M
8.
Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family
Hong Wu, Songtian Che, Shuchun Li, Yan Cheng, Jun Xiao, Zaoxia Liu
Mol Genet Genomic Med. 2021 Oct; 9(10): e1781. Published online 2021 Aug 18. doi: 10.1002/mgg3.1781
PMCID:
PMC8580100
AbstractArticlePDF–358K
9.
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1
Soon-Il Choi, Se-Joon Woo, Baek-Lok Oh, Jinu Han, Hyun-Taek Lim, Byung-Joo Lee, Kwangsic Joo, Jun-Young Park, Ja-Hyun Jang, Min-Kyung So, Sang-Jin Kim
Genes (Basel) 2021 Oct; 12(10): 1578. Published online 2021 Oct 5. doi: 10.3390/genes12101578
PMCID:
PMC8536015
AbstractArticlePDF–2.0M
10.
Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry
Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang
Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118
PMCID:
PMC8364181
AbstractArticlePDF–3.0M
11.
CDC5L promotes early chondrocyte differentiation and proliferation by modulating pre-mRNA splicing of SOX9, COL2A1, and WEE1
Go Jokoji, Shingo Maeda, Kazuki Oishi, Toshiro Ijuin, Masahiro Nakajima, Hiroki Tawaratsumida, Ichiro Kawamura, Hiroyuki Tominaga, Eiji Taketomi, Shiro Ikegawa, Noboru Taniguchi
J Biol Chem. 2021 Aug; 297(2): 100994. Published online 2021 Jul 21. doi: 10.1016/j.jbc.2021.100994
PMCID:
PMC8363834
AbstractArticlePDF–3.4M
12.
Comprehensive proteomic characterization of stem cell-derived extracellular matrices
Héloïse Ragelle, Alexandra Naba, Benjamin L. Larson, Fangheng Zhou, Miralem Prijic, Charles A. Whittaker, Amanda Del Rosario, Robert Langer, Richard O. Hynes, Daniel G. Anderson
Biomaterials. Author manuscript; available in PMC 2021 Jun 10.
Published in final edited form as: Biomaterials. 2017 Jun; 128: 147–159. Published online 2017 Mar 7. doi: 10.1016/j.biomaterials.2017.03.008
PMCID:
PMC8191742
AbstractArticlePDF–1.5M
13.
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
14.
Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics
Alexandra Naba, Oliver M. T. Pearce, Amanda Del Rosario, Duanduan Ma, Huiming Ding, Vinothini Rajeeve, Pedro R. Cutillas, Frances R. Balkwill, Richard O. Hynes
J Proteome Res. Author manuscript; available in PMC 2021 Apr 27.
Published in final edited form as: J Proteome Res. 2017 Aug 4; 16(8): 3083–3091. Published online 2017 Jul 19. doi: 10.1021/acs.jproteome.7b00191
PMCID:
PMC8078728
AbstractArticlePDF–2.1M
15.
Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis
Katrin Tiemann, Carolina Garri, Sang Bok Lee, Paymaneh D. Malihi, Mincheol Park, Ruth M. Alvarez, Li Peng Yap, Parag Mallick, Jonathan E. Katz, Mitchell E. Gross, Kian Kani
Oncogene. Author manuscript; available in PMC 2020 Sep 29.
Published in final edited form as: Oncogene. 2019 Apr; 38(16): 3003–3018. Published online 2018 Dec 21. doi: 10.1038/s41388-018-0638-9
PMCID:
PMC7523706
AbstractArticlePDF–2.3M
16.
Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment
Li Huang, Chonglin Chen, Zhirong Wang, Limei Sun, Songshan Li, Ting Zhang, Xiaoling Luo, Xiaoyan Ding
Genes (Basel) 2020 Aug; 11(8): 882. Published online 2020 Aug 3. doi: 10.3390/genes11080882
PMCID:
PMC7464315
AbstractArticlePDF–1.8M
17.
CHONDROGENIC DIFFERENTIATION OF INDUCED PLURIPOTENT STEM CELLS FROM OSTEOARTHRITIC CHONDROCYTES IN ALGINATE MATRIX
Yiyong Wei, Wen Zeng, Rong Wan, Jun Wang, Qi Zhou, Shijing Qiu, Shree Ram Singh
Eur Cell Mater. Author manuscript; available in PMC 2020 Aug 25.
Published in final edited form as: Eur Cell Mater. 2012 Jan 12; 23: 1–12. Published online 2012 Jan 12. doi: 10.22203/ecm.v023a01
PMCID:
PMC7447074
AbstractArticlePDF–1.0M
18.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
19.
Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
Wen‐bin Zheng, Lu‐jiao Li, Di‐chen Zhao, Ou Wang, Yan Jiang, Wei‐bo Xia, Xiao‐ping Xing, Mei Li
Mol Genet Genomic Med. 2020 Mar; 8(3): e1139. Published online 2020 Jan 23. doi: 10.1002/mgg3.1139
PMCID:
PMC7057085
AbstractArticlePDF–1.0M
20.
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
AbstractArticlePDF–1.6M

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