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Items: 1 to 20 of 112

1.
Identification of potential non-invasive biomarkers in diastrophic dysplasia
Chiara Paganini, Ricki S. Carroll, Chiara Gramegna Tota, Andrea J. Schelhaas, Alessandra Leone, Angela L. Duker, David A. O’Connell, Ryan F. Coghlan, Brian Johnstone, Carlos R. Ferreira, Sabrina Peressini, Riccardo Albertini, Antonella Forlino, Luisa Bonafé, Ana Belinda Campos-Xavier, Andrea Superti-Furga, Andreas Zankl, Antonio Rossi, Michael B. Bober
Bone. Author manuscript; available in PMC 2024 Dec 13.
Published in final edited form as: Bone. 2023 Oct; 175: 116838. Published online 2023 Jul 16. doi: 10.1016/j.bone.2023.116838
PMCID:
PMC11638977
ArticlePDF–696K
2.
Tuning collective behaviour in zebrafish with genetic modification
Yushi Yang, Abdelwahab Kawafi, Qiao Tong, Erika Kague, Chrissy L. Hammond, C. Patrick Royall
PLoS Comput Biol. 2024 Oct; 20(10): e1012034. Published online 2024 Oct 28. doi: 10.1371/journal.pcbi.1012034
PMCID:
PMC11542821
ArticlePDF–2.1M
3.
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis
Shan Li, Yueyang Sheng, Xinyu Wang, Qianqian Wang, Ying Wang, Yanzhuo Zhang, Chengai Wu, Xu Jiang
Orphanet J Rare Dis. 2024; 19: 245. Published online 2024 Jul 2. doi: 10.1186/s13023-024-03228-4
PMCID:
PMC11220988
ArticlePDF–3.7M
4.
Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform
Maria Serena Milella, Michela Geminiani, Alfonso Trezza, Anna Visibelli, Daniela Braconi, Annalisa Santucci
Cells. 2024 Jun; 13(12): 1072. Published online 2024 Jun 20. doi: 10.3390/cells13121072
PMCID:
PMC11201470
ArticlePDF–2.6M
5.
Bilateral juvenile osteochondrosis dissecans in monozygotic twins: a case report
Luca Bausch, Monika Probst, Lorenz Fritsch, Julian Mehl, Sebastian Siebenlist, Lukas Willinger
J Orthop Surg Res. 2024; 19: 208. Published online 2024 Apr 1. doi: 10.1186/s13018-024-04683-2
PMCID:
PMC10983665
ArticlePDF–1.4M
6.
microRNAs are differentially expressed in equine plasma of horses with osteoarthritis and osteochondritis dissecans versus control horses
Joshua Antunes, Ramés Salcedo-Jiménez, Starlee Lively, Pratibha Potla, Nathalie Coté, Marie-Soleil Dubois, Judith Koenig, Mohit Kapoor, Jonathan LaMarre, Thomas Gadegaard Koch
PLoS One. 2024; 19(2): e0297303. Published online 2024 Feb 23. doi: 10.1371/journal.pone.0297303
PMCID:
PMC10890772
ArticlePDF–2.8M
7.
Investigation of a family affected by early-onset osteoarthritis – proposal of a clinical pathway and bioinformatics pipeline for the investigation of cases of familial OA
Leticia A. Deveza, Andreas Zankl, David J. Hunter
BMC Musculoskelet Disord. 2023; 24: 570. Published online 2023 Jul 13. doi: 10.1186/s12891-023-06691-5
PMCID:
PMC10339477
ArticlePDF–1.3M
8.
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
ArticlePDF–4.2M
9.
A Novel Heterozygous ACAN Variant in a Short Patient Born Small for Gestational Age with Recurrent Patellar Dislocation: A Case Report
Su Ji Kim, Jong Seo Yoon, Il Tae Hwang
J Clin Res Pediatr Endocrinol. 2022 Dec; 14(4): 481–484. Published online 2022 Dec 1. doi: 10.4274/jcrpe.galenos.2021.2021.0081
PMCID:
PMC9724056
ArticlePDF–1.4M
10.
Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the literature
Shuyun Deng, Lele Hou, Dan Xia, Xiaojuan Li, Xiaofang Peng, Xiaoqin Xiao, Jieming Zhang, Zhe Meng, Lina Zhang, Nengtai Ouyang, Liyang Liang
Front Endocrinol (Lausanne) 2022; 13: 1015954. Published online 2022 Oct 28. doi: 10.3389/fendo.2022.1015954
PMCID:
PMC9649928
ArticlePDF–4.0M
11.
Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome
Katherine Buchanan, Erin Greenup, Anna C. E. Hurst, Bhuvana Sunil, Ambika P. Ashraf
Front Endocrinol (Lausanne) 2022; 13: 1004114. Published online 2022 Oct 3. doi: 10.3389/fendo.2022.1004114
PMCID:
PMC9574220
ArticlePDF–721K
12.
Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age
Giuseppa Patti, Federica Malerba, Maria Grazia Calevo, Maurizio Schiavone, Marco Scaglione, Emilio Casalini, Silvia Russo, Daniela Fava, Marta Bassi, Flavia Napoli, Anna Elsa Maria Allegri, Giuseppe D’Annunzio, Roberto Gastaldi, Mohamad Maghnie, Natascia Di Iorgi
Front Endocrinol (Lausanne) 2022; 13: 975511. Published online 2022 Aug 24. doi: 10.3389/fendo.2022.975511
Correction in:
Front Endocrinol (Lausanne). 2023; 14: 1172736.
PMCID:
PMC9451521
ArticlePDF–439K
13.
Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response
Gajanthan Muthuvel, Andrew Dauber, Eirene Alexandrou, Leah Tyzinski, Melissa Andrew, Vivian Hwa, Philippe Backeljauw
J Clin Endocrinol Metab. 2022 May; 107(5): e2103–e2109. Published online 2021 Dec 18. doi: 10.1210/clinem/dgab904
PMCID:
PMC9432476
Article
14.
Precocious puberty or growth hormone deficiency as initial presentation in Mayer-Rokitansky-kuster-Hauser syndrome: a clinical report of 5 cases
Zhuanzhuan Ai, Xiaoyun Zhu, Hong Chen, Ruimin Chen
BMC Pediatr. 2022; 22: 418. Published online 2022 Jul 14. doi: 10.1186/s12887-022-03474-0
PMCID:
PMC9281080
ArticlePDF–1.3M
15.
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
ArticlePDF–2.9M
16.
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant
Riikka E. Mäkitie, Sanna Toiviainen-Salo, Ilkka Kaitila, Outi Mäkitie
Front Endocrinol (Lausanne) 2022; 13: 845889. Published online 2022 Mar 3. doi: 10.3389/fendo.2022.845889
PMCID:
PMC8927981
ArticlePDF–2.5M
17.
Collagen XI mutation lowers susceptibility to load-induced cartilage damage in mice
Derek T. Holyoak, Miguel Otero, Naa Shidaa Armar, Sophia N. Ziemian, Ariana Otto, Devinne Cullinane, Timothy M. Wright, Steven R. Goldring, Mary B. Goldring, Marjolein C.H. van der Meulen
J Orthop Res. Author manuscript; available in PMC 2022 Feb 4.
Published in final edited form as: J Orthop Res. 2018 Feb; 36(2): 711–720. Published online 2017 Oct 31. doi: 10.1002/jor.23731
PMCID:
PMC8813548
ArticlePDF–2.0M
18.
Variable expressivity in a family with an aggrecanopathy
Antoine Denis, Sami Chergui, Shuaa Basalom, Philippe M. Campeau, Chantal Janelle, Thierry Pauyo
Mol Genet Genomic Med. 2022 Jan; 10(1): e1773. Published online 2021 Dec 10. doi: 10.1002/mgg3.1773
PMCID:
PMC8801139
ArticlePDF–1.1M
19.
Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature
Quitterie Rochoux, Jana Sopkova-de Oliveira Santos, Christian Marcelli, Anne Rovelet-Lecrux, Virginie Chevallier, Jean-Jacques Dutheil, Sylvain Leclercq, Karim Boumédiene, Catherine Baugé, Juliette Aury-Landas
Biomolecules. 2021 Oct; 11(10): 1460. Published online 2021 Oct 5. doi: 10.3390/biom11101460
PMCID:
PMC8533395
ArticlePDF–1.3M
20.
Adenosine A2A receptor null chondrocyte transcriptome resembles that of human osteoarthritic chondrocytes
Cristina M. Castro, Carmen Corciulo, Benjamin Friedman, Zhi Li, Samson Jacob, David Fenyo, Bruce N. Cronstein
Purinergic Signal. 2021 Sep; 17(3): 439–448. Published online 2021 May 11. doi: 10.1007/s11302-021-09788-5
PMCID:
PMC8410926
ArticlePDF–1.0M

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