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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.
Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families
Yixuan Cao, Xin Guan, Shan Li, Nan Wu, Xiumin Chen, Tao Yang, Bo Yang, Xiuli Zhao
Mol Genet Genomic Med. 2022 May; 10(5): e1916. Published online 2022 Mar 9. doi: 10.1002/mgg3.1916
PMCID:
PMC9034684
AbstractArticlePDF–8.1M
4.
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
5.
Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease
Jian Lei, Huan Deng, Yan Ran, Yizhen Lv, Abebe Feyissa Amhare, Liyun Wang, Xiong Guo, Jing Han, Mikko J. Lammi
Cartilage. 2021 Dec; 13(1 Suppl): 818S–828S. Published online 2020 Jun 9. doi: 10.1177/1947603520932199
PMCID:
PMC8808786
AbstractArticlePDF–9.6M
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation
Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117
PMCID:
PMC7322067
AbstractArticlePDF–2.7M
13.
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
14.
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
15.
The matrix proteins aggrecan and fibulin-1 play a key role in determining aortic stiffness
Yasmin, Raya Al Maskari, Carmel M. McEniery, Sarah E. Cleary, Ye Li, Keith Siew, Nichola L. Figg, Ashraf W. Khir, John R. Cockcroft, Ian B. Wilkinson, Kevin M. O’Shaughnessy
Sci Rep. 2018; 8: 8550. Published online 2018 Jun 4. doi: 10.1038/s41598-018-25851-5
PMCID:
PMC5986773
AbstractArticlePDF–3.2M
16.
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
17.
Massive aggrecan and versican accumulation in thoracic aortic aneurysm and dissection
Frank S. Cikach, Christopher D. Koch, Timothy J. Mead, Josephine Galatioto, Belinda B. Willard, Kelly B. Emerton, Matthew J. Eagleton, Eugene H. Blackstone, Francesco Ramirez, Eric E. Roselli, Suneel S. Apte
JCI Insight. 2018 Mar 8; 3(5): e97167. Published online 2018 Mar 8. doi: 10.1172/jci.insight.97167
PMCID:
PMC5922288
AbstractArticlePDF–1.5M
18.
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
19.
Follicular ADAMTS-1 and aggrecan levels in polycystic ovary syndrome
Esra Nur Tola, Dilek Ulusoy Karatopuk, Nadiye Koroglu, Merve Ergin, Hilmi Baha Oral
J Assist Reprod Genet. 2017 Jun; 34(6): 811–816. Published online 2017 Apr 17. doi: 10.1007/s10815-017-0913-7
PMCID:
PMC5445050
AbstractArticlePDF–291K
20.
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

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