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Items: 1 to 20 of 71

1.
Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review
Wei Tang, Ke‐Mi Wu, Qiong Zhou, Yan‐Fei Tang, Jun‐Fen Fu, Guan‐Ping Dong, Chao‐Chun Zou
Mol Genet Genomic Med. 2024 Apr; 12(4): e2439. Published online 2024 Apr 13. doi: 10.1002/mgg3.2439
PMCID:
PMC11015147
AbstractArticlePDF–1.0M
2.
Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature
Huiping Wu, Chaoban Wang, Shiwen Yu, Xiaojun Ye, Yalan Jiang, Pingping He, Xiaoou Shan
J Clin Lab Anal. 2023 Jan; 37(2): e24830. Published online 2023 Jan 4. doi: 10.1002/jcla.24830
PMCID:
PMC9937877
AbstractArticlePDF–4.2M
3.
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
Eva-Lena Stattin, Karin Lindblom, André Struglics, Patrik Önnerfjord, Jack Goldblatt, Abhijit Dixit, Ajoy Sarkar, Tabitha Randell, Mohnish Suri, Cathleen Raggio, Jessica Davis, Erin Carter, Anders Aspberg
Sci Rep. 2022; 12: 5215. Published online 2022 Mar 25. doi: 10.1038/s41598-022-09211-y
PMCID:
PMC8956744
AbstractArticlePDF–2.9M
4.
Blood and urine biomarkers in osteoarthritis – an update on cartilage associated type II collagen and aggrecan markers
Anne C. Bay-Jensen, Ali Mobasheri, Christian S. Thudium, Virginia B. Kraus, Morten A. Karsdal
Curr Opin Rheumatol. 2022 Jan; 34(1): 54–60. Published online 2021 Oct 22. doi: 10.1097/BOR.0000000000000845
PMCID:
PMC8635261
AbstractArticlePDF–355K
5.
Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations
Ming Wei, Yanqin Ying, Zhuxi Li, Ying Weng, Xiaoping Luo
Mol Genet Genomic Med. 2021 Nov; 9(11): e1823. Published online 2021 Oct 3. doi: 10.1002/mgg3.1823
PMCID:
PMC8606199
AbstractArticlePDF–1.0M
6.
A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children
Li Lin, Mengting Li, Jingsi Luo, Pin Li, Shasha Zhou, Yu Yang, Ka Chen, Ying Weng, Xiuying Ge, Maimaiti Mireguli, Haiyan Wei, Haihua Yang, Guimei Li, Yan Sun, Lanwei Cui, Shulin Zhang, Jing Chen, Guozhang Zeng, Lijun Xu, Xiaoping Luo, Yiping Shen
J Clin Endocrinol Metab. 2021 Jul; 106(7): e2711–e2719. Published online 2021 Feb 19. doi: 10.1210/clinem/dgab088
PMCID:
PMC8208663
AbstractArticle
7.
Aggrecan: a new biomarker for acute type A aortic dissection
Karl C. König, Harald Lahm, Martina Dreßen, Stefanie A. Doppler, Stefan Eichhorn, Nicole Beck, Kathrin Kraehschuetz, Sophia Doll, Stefan Holdenrieder, Adnan Kastrati, Rüdiger Lange, Markus Krane
Sci Rep. 2021; 11: 10371. Published online 2021 May 14. doi: 10.1038/s41598-021-89653-y
PMCID:
PMC8121825
AbstractArticlePDF–2.7M
8.
Short stature with precocious puberty caused by aggrecan gene mutation: A case report
Yuanyuan Wang, Juan Ge, Jianying Ma, Lingyan Qiao, Tang Li
Medicine (Baltimore) 2020 Aug 21; 99(34): e21635. Published online 2020 Aug 21. doi: 10.1097/MD.0000000000021635
PMCID:
PMC7447401
AbstractArticlePDF–556K
9.
High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature
L Stavber, T Hovnik, P Kotnik, L Lovrečić, J Kovač, T Tesovnik, S Bertok, K Dovč, M Debeljak, T Battelino, M Avbelj Stefanija
Eur J Endocrinol. 2020 Mar; 182(3): 243–253. Published online 2019 Dec 13. doi: 10.1530/EJE-19-0771
PMCID:
PMC7087498
AbstractArticlePDF–1.4M
10.
The Evaluation of Proteoglycan Levels and the Possible Role of ACAN Gene (c.6423T>C) Variant in Patients with Lumbar Disc Degeneration Disease
CUMHUR KAAN YALTIRIK, ÖZLEM TIMIRCI-KAHRAMAN, SEDA GULEC-YILMAZ, SELCUK SELCUK OZDOGAN, BASAR ATALAY, TURGAY ISBIR
In Vivo. 2019 Mar-Apr; 33(2): 413–417. Published online 2019 Mar 3. doi: 10.21873/invivo.11488
PMCID:
PMC6506326
AbstractArticlePDF–109K
11.
Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children
Dandan Xu, Chengjun Sun, Zeyi Zhou, Bingbing Wu, Lin Yang, Zhuo Chang, Miaoying Zhang, Li Xi, Ruoqian Cheng, Jinwen Ni, Feihong Luo
BMC Med Genet. 2018; 19: 79. Published online 2018 May 16. doi: 10.1186/s12881-018-0591-z
PMCID:
PMC5956957
AbstractArticlePDF–1.8M
12.
Variants of ACAN are associated with severity of lumbar disc herniation in patients with chronic low back pain
Romain Shanil Perera, Poruwalage Harsha Dissanayake, Upul Senarath, Lalith Sirimevan Wijayaratne, Aranjan Lional Karunanayake, Vajira Harshadeva Weerabaddana Dissanayake
PLoS One. 2017; 12(7): e0181580. Published online 2017 Jul 24. doi: 10.1371/journal.pone.0181580
PMCID:
PMC5524386
AbstractArticlePDF–4.3M
13.
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, Melissa Crocker, Jessica Douglas, Nancy Dunbar, Jan Fairchild, Mariana F. A. Funari, Karen E. Heath, Alexander A. L. Jorge, Tracey Kurtzman, Stephen LaFranchi, Seema Lalani, Jan Lebl, Yuezhen Lin, Evan Los, Dorothee Newbern, Catherine Nowak, Micah Olson, Jadranka Popovic, Štěpánka Průhová, Lenka Elblova, Jose Bernardo Quintos, Emma Segerlund, Lucia Sentchordi, Marwan Shinawi, Eva-Lena Stattin, Jonathan Swartz, Ariadna González del Angel, Sinhué Diaz Cuéllar, Hidekazu Hosono, Pedro A. Sanchez-Lara, Vivian Hwa, Jeffrey Baron, Ola Nilsson, Andrew Dauber
J Clin Endocrinol Metab. 2017 Feb 1; 102(2): 460–469. Published online 2016 Nov 21. doi: 10.1210/jc.2016-3313
PMCID:
PMC5413162
AbstractArticle
14.
Characterization and Localization of Citrullinated Proteoglycan Aggrecan in Human Articular Cartilage
Tibor T. Glant, Timea Ocsko, Adrienn Markovics, Zoltan Szekanecz, Robert S. Katz, Tibor A. Rauch, Katalin Mikecz
PLoS One. 2016; 11(3): e0150784. Published online 2016 Mar 4. doi: 10.1371/journal.pone.0150784
PMCID:
PMC4778950
AbstractArticlePDF–3.2M
15.
Differential distribution of aggrecan isoforms in perineuronal nets of the human cerebral cortex
Daniela Virgintino, Daniela Perissinotto, Francesco Girolamo, Maria T Mucignat, Luisa Montanini, Mariella Errede, Tomoyuki Kaneiwa, Shushei Yamada, Kazuyuki Sugahara, Luisa Roncali, Roberto Perris
J Cell Mol Med. 2009 Sep; 13(9b): 3151–3173. Published online 2009 Feb 11. doi: 10.1111/j.1582-4934.2009.00694.x
PMCID:
PMC4516474
AbstractArticlePDF–3.4M
16.
Aggrecan and chondroitin-6-sulfate abnormalities in schizophrenia and bipolar disorder: a postmortem study on the amygdala
H Pantazopoulos, M Markota, F Jaquet, D Ghosh, A Wallin, A Santos, B Caterson, S Berretta
Transl Psychiatry. 2015 Jan; 5(1): e496. Published online 2015 Jan 20. doi: 10.1038/tp.2014.128
PMCID:
PMC4312825
AbstractArticlePDF–2.8M
17.
Order within disorder: Aggrecan chondroitin sulphate-attachment region provides new structural insights into protein sequences classified as disordered
Thomas A Jowitt, Alan D Murdoch, Clair Baldock, Richard Berry, Joanna M Day, Timothy E Hardingham
Proteins. 2010 Dec; 78(16): 3317–3327. Published online 2010 Jul 30. doi: 10.1002/prot.22839
PMCID:
PMC3546398
AbstractArticlePDF–578K
18.
Multiple enhancers associated with ACAN suggest highly redundant transcriptional regulation in cartilage
Gui Hu, Marta Codina, Shannon Fisher
Matrix Biol. Author manuscript; available in PMC 2013 Jul 20.
Published in final edited form as: Matrix Biol. 2012 Jul; 31(6): 328–337. Published online 2012 Jul 20. doi: 10.1016/j.matbio.2012.06.001
PMCID:
PMC3508301
AbstractArticlePDF–2.2M
19.
A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
Eva-Lena Stattin, Fredrik Wiklund, Karin Lindblom, Patrik Önnerfjord, Björn-Anders Jonsson, Yelverton Tegner, Takako Sasaki, André Struglics, Stefan Lohmander, Niklas Dahl, Dick Heinegård, Anders Aspberg
Am J Hum Genet. 2010 Feb 12; 86(2): 126–137. doi: 10.1016/j.ajhg.2009.12.018
PMCID:
PMC2820178
AbstractArticlePDF–1.4M
20.
Synovial fluid level of aggrecan ARGS fragments is a more sensitive marker of joint disease than glycosaminoglycan or aggrecan levels: a cross-sectional study
Staffan Larsson, L Stefan Lohmander, André Struglics
Arthritis Res Ther. 2009; 11(3): R92. Published online 2009 Jun 22. doi: 10.1186/ar2735
PMCID:
PMC2714148
AbstractArticlePDF–674K

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