U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 80

1.
Early Resveratrol Treatment Mitigates Joint Degeneration and Dampens Pain in a Mouse Model of Pseudoachondroplasia (PSACH)
Jacqueline T. Hecht, Alka C. Veerisetty, Debabrata Patra, Mohammad G. Hossain, Frankie Chiu, Claire Mobed, Francis H. Gannon, Karen L. Posey
Biomolecules. 2023 Oct; 13(10): 1553. Published online 2023 Oct 20. doi: 10.3390/biom13101553
PMCID:
PMC10605626
ArticlePubReaderPDF–4.4MCite
2.
Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods
Kosei Hasegawa, Natsuko Futagawa, Yuko Ago, Hiroyuki Miyahara, Daisuke Harada, Mari Miyazawa, Junko Yoshimoto, Kenji Baba, Tadashi Moriwake, Hiroyuki Tanaka, Hirokazu Tsukahara
Clin Pediatr Endocrinol. 2023; 32(4): 221–227. Published online 2023 Sep 16. doi: 10.1297/cpe.2023-0035
PMCID:
PMC10568574
ArticlePubReaderPDF–2.2MCite
3.
Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report
Sára Pálla, Pálma Anker, Klára Farkas, Dóra Plázár, Sándor Kiss, Péter Marschalkó, Zsuzsanna Szalai, Judit Bene, Kinga Hadzsiev, Zoltán Maróti, Tibor Kalmár, Márta Medvecz
BMC Pediatr. 2023; 23: 110. Published online 2023 Mar 8. doi: 10.1186/s12887-023-03920-7
PMCID:
PMC9993747
ArticlePubReaderPDF–1.6MCite
4.
CurQ+, a Next-Generation Formulation of Curcumin, Ameliorates Growth Plate Chondrocyte Stress and Increases Limb Growth in a Mouse Model of Pseudoachondroplasia
Jacqueline T. Hecht, Alka C. Veerisetty, Mohammad G. Hossain, Frankie Chiu, Karen L. Posey
Int J Mol Sci. 2023 Feb; 24(4): 3845. Published online 2023 Feb 14. doi: 10.3390/ijms24043845
PMCID:
PMC9959842
ArticlePubReaderPDF–3.6MCite
5.
Joint Degeneration in a Mouse Model of Pseudoachondroplasia: ER Stress, Inflammation, and Block of Autophagy
Jacqueline T. Hecht, Alka C. Veerisetty, Mohammad G. Hossain, Debabrata Patra, Frankie Chiu, Francoise Coustry, Karen L. Posey
Int J Mol Sci. 2021 Sep; 22(17): 9239. Published online 2021 Aug 26. doi: 10.3390/ijms22179239
PMCID:
PMC8431545
ArticlePubReaderPDF–3.4MCite
6.
Shoulder arthroplasty in dwarfism: A case report of pseudoachondroplasia with 17-year follow-up
Gregory Gasbarro, Joseph W. Galvin, Alexander Prete, Ameen Barghi, Aisha Obeidallah, Jon J.P. Warner
Orthop Rev (Pavia) 2021 Mar 30; 13(1): 8605. Published online 2021 Mar 31. doi: 10.4081/or.2021.8605
PMCID:
PMC8082169
ArticlePubReaderPDF–396KCite
7.
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
Bing-Bing Guo, Jie-Yuan Jin, Zhuang-Zhuang Yuan, Lei Zeng, Rong Xiang
Biomed Res Int. 2021; 2021: 6678531. Published online 2021 Mar 8. doi: 10.1155/2021/6678531
PMCID:
PMC7960025
ArticlePubReaderPDF–1.1MCite
8.
Health assessment of patients with achondroplasia, pseudoachondroplasia, and rickets based on 3D non-linear diagnostics
Jian Zhang, Yanqin Lu, Yanzhou Wang, Tianyou Li, Chuanming Peng, Shie Zhang, Qingxia Gao, Wei Li, Chunshang Liu, Jinxiang Han
Intractable Rare Dis Res. 2020 Feb; 9(1): 35–39. doi: 10.5582/irdr.2020.01019
PMCID:
PMC7062601
ArticlePubReaderPDF–1.2MCite
9.
Orthopaedic manifestations of pseudoachondroplasia
D. S. Weiner, J. Guirguis, M. Makowski, S. Testa, L. Shauver, D. Morgan
J Child Orthop. 2019 Aug 1; 13(4): 409–416. doi: 10.1302/1863-2548.13.190066
PMCID:
PMC6701439
ArticlePubReaderPDF–1.8MCite
10.
A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia
Jun Chen, Wenbing Zhang, Jinzhou He, Run Zhang, Yinqiang Cao, Xing Liu
Genes Dis. 2019 Mar; 6(1): 47–55. Published online 2018 Mar 7. doi: 10.1016/j.gendis.2018.02.004
PMCID:
PMC6411627
ArticlePubReaderPDF–1.6MCite
11.
Novel therapeutic interventions for pseudoachondroplasia
Karen L. Posey, Jacqueline T. Hecht
Bone. Author manuscript; available in PMC 2018 Oct 2.
Published in final edited form as: Bone. 2017 Sep; 102: 60–68. Published online 2017 Mar 21. doi: 10.1016/j.bone.2017.03.045
PMCID:
PMC6168010
ArticlePubReaderPDF–1.4MCite
12.
Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
Yosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, Kenji Watanabe, Gen Nishimura, Tomonobu Hasegawa
Hum Genome Var. 2018; 5: 12. Published online 2018 Jun 8. doi: 10.1038/s41439-018-0012-z
PMCID:
PMC5993830
ArticlePubReaderPDF–695KCite
13.
Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation
Chongjuan Gu, Zhao Yang, Hao Tan, Yingying Zhang, Yilu Lu, Yongxin Ma
Biomed Res Int. 2017; 2017: 5809787. Published online 2017 Aug 27. doi: 10.1155/2017/5809787
PMCID:
PMC5591969
ArticlePubReaderPDF–2.2MCite
14.
Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation
Hirokazu Ideta, Shigeharu Uchiyama, Masanori Hayashi, Tomoki Kosho, Yukio Nakamura, Hiroyuki Kato
J Surg Case Rep. 2017 Jan; 2017(1): rjw216. Published online 2017 Jan 2. doi: 10.1093/jscr/rjw216
PMCID:
PMC5204134
ArticlePubReaderPDF–695KCite
15.
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia
Huaichao Luo, Sisi Yu, Ying Lin, Qi Guo, Rongchuan Ma, Zimeng Ye, Yanan Di, Ning Li, Yuanying Miao, Yu Zhou, Yuanfeng Li, Jiyun Yang, Zhenglin Yang
Hum Genome Var. 2016; 3: 16009. Published online 2016 Jun 9. doi: 10.1038/hgv.2016.9
PMCID:
PMC4899602
ArticlePubReaderPDF–1.0MCite
16.
Chop (Ddit3) Is Essential for D469del-COMP Retention and Cell Death in Chondrocytes in an Inducible Transgenic Mouse Model of Pseudoachondroplasia
Karen L. Posey, Francoise Coustry, Alka C. Veerisetty, Peiman Liu, Joseph L. Alcorn, Jacqueline T. Hecht
Am J Pathol. 2012 Feb; 180(2): 727–737. doi: 10.1016/j.ajpath.2011.10.035
PMCID:
PMC3349877
ArticlePubReaderPDF–2.5MCite
17.
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
ArticlePubReaderPDF–428KCite
18.
Difficult to control asthma in the patient with pseudoachondroplasia
Maria Wilczynska, Teresa Ching
BMJ Case Rep. 2011; 2011: bcr0820114667. Published online 2011 Oct 14. doi: 10.1136/bcr.08.2011.4667
PMCID:
PMC3207788
ArticlePubReaderPDF–722KCite
19.
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin
Li Dai, Liang Xie, Yanping Wang, Meng Mao, Nana Li, Jun Zhu, Christopher Kim, Yawei Zhang
BMC Med Genet. 2011; 12: 72. Published online 2011 May 21. doi: 10.1186/1471-2350-12-72
PMCID:
PMC3119180
ArticlePubReaderPDF–838KCite
20.
Pseudoachondroplasia: A rare cause of rhizomelic dwarfism
Anupama Tandon, Satish K Bhargava, Sandeep Goel, Shuchi Bhatt
Indian J Orthop. 2008 Oct-Dec; 42(4): 477–479. doi: 10.4103/0019-5413.43400
PMCID:
PMC2740353
ArticlePubReaderPDF–1.1MCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center