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Select item 102047751.

Differential Eye Expression of Xenopus Acyltransferase Gnpat and Its Biochemical Characterization Shed Light on Lipid-Associated Ocular Pathologies

Gabriel E. Bertolesi, Maxwell F. J. Chilije, Victoria Li, Chase C. Thompson, Arturo López-Villalobos, Carrie L. Hehr, Karen Atkinson-Leadbeater, Vanina Zaremberg, Sarah McFarlane

Invest Ophthalmol Vis Sci. 2023 May; 64(5): 17. Published online 2023 May 19. doi: 10.1167/iovs.64.5.17

PMCID:: PMC10204775

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Select item 101015232.

Mice lacking nucleotide sugar transporter SLC35A3 exhibit lethal chondrodysplasia with vertebral anomalies and impaired glycosaminoglycan biosynthesis

Soichiro Saito, Shuji Mizumoto, Tsukasa Yonekura, Rina Yamashita, Kenta Nakano, Tadashi Okubo, Shuhei Yamada, Tadashi Okamura, Tatsuya Furuichi

PLoS One. 2023; 18(4): e0284292. Published online 2023 Apr 13. doi: 10.1371/journal.pone.0284292

PMCID:: PMC10101523

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Select item 97025383.

Structure, evolution and expression of zebrafish cartilage oligomeric matrix protein (COMP, TSP5). CRISPR-Cas mutants show a dominant phenotype in myosepta

Helena Fabiana Forte-Gomez, Roberta Gioia, Francesca Tonelli, Birgit Kobbe, Peter Koch, Wilhelm Bloch, Mats Paulsson, Frank Zaucke, Antonella Forlino, Raimund Wagener

Front Endocrinol (Lausanne) 2022; 13: 1000662. Published online 2022 Nov 14. doi: 10.3389/fendo.2022.1000662

PMCID:: PMC9702538

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Select item 92795894.

The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2 ^+/p.G610C) mice

Martha Blank, Narelle E. McGregor, Lynn Rowley, Louise H. W. Kung, Blessing Crimeen‐Irwin, Ingrid J. Poulton, Emma C. Walker, Jonathan H. Gooi, Shireen R. Lamandé, Natalie A. Sims, John F. Bateman

J Cell Mol Med. 2022 Jul; 26(14): 4021–4031. Published online 2022 Jun 14. doi: 10.1111/jcmm.17437

PMCID:: PMC9279589

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Select item 90245245.

Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature

Qiuyue Li, Xin Fan, Wei Lu, Chengjun Sun, Zhou Pei, Miaoying Zhang, Jinwen Ni, Jing Wu, Fa-Xing Yu, Feihong Luo

Cells. 2022 Apr; 11(8): 1265. Published online 2022 Apr 8. doi: 10.3390/cells11081265

PMCID:: PMC9024524

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Select item 85800956.

Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method

Yanchou Ye, Weihao Li, Guan Wang, Longsheng Zhan, Junwei Lin, Tian Li, Jun Zhang

Mol Genet Genomic Med. 2021 Oct; 9(10): e1758. Published online 2021 Aug 23. doi: 10.1002/mgg3.1758

PMCID:: PMC8580095

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Select item 81722037.

Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review

Huixiao Wu, Shuping Wang, Guimei Li, Yangyang Yao, Ning Wang, Xiaoqing Sun, Li Fang, Xiuyun Jiang, Jiajun Zhao, Yanzhou Wang, Chao Xu

Mol Genet Genomic Med. 2021 May; 9(5): e1668. Published online 2021 Mar 25. doi: 10.1002/mgg3.1668

PMCID:: PMC8172203

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Select item 80506148.

An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen’s Metaphyseal Chondrodysplasia

Hiroshi Noda, Jun Guo, Ashok Khatri, Thomas Dean, Monica Reyes, Michael Armanini, Daniel J Brooks, Janaina S Martins, Ernestina Schipani, Mary L Bouxsein, Marie B Demay, John T Potts, Jr, Harald Jüppner, Thomas J Gardella

J Bone Miner Res. Author manuscript; available in PMC 2021 Apr 16.

Published in final edited form as: J Bone Miner Res. 2020 Mar; 35(3): 540–549. Published online 2019 Dec 4. doi: 10.1002/jbmr.3913

PMCID:: PMC8050614

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Select item 79402589.

Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias

Yann Pretemer, Shunsuke Kawai, Sanae Nagata, Megumi Nishio, Makoto Watanabe, Sakura Tamaki, Cantas Alev, Yoshihiro Yamanaka, Jing-Yi Xue, Zheng Wang, Kenichi Fukiage, Masako Tsukanaka, Tohru Futami, Shiro Ikegawa, Junya Toguchida

Stem Cell Reports. 2021 Mar 9; 16(3): 610–625. Published online 2021 Feb 25. doi: 10.1016/j.stemcr.2021.01.014

PMCID:: PMC7940258

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Select item 748758510.

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Joana Gonçalves Pontes Jacinto, Irene Monika Häfliger, Anna Letko, Cord Drögemüller, Jørgen Steen Agerholm

Acta Vet Scand. 2020; 62: 49. Published online 2020 Sep 7. doi: 10.1186/s13028-020-00548-w

PMCID:: PMC7487585

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Select item 745021711.

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

Peter Lauffer, Erick Miranda-Laferte, Hermine A van Duyvenvoorde, Arie van Haeringen, Franziska Werner, Eveline Boudin, Hannes Schmidt, Thomas D Mueller, Michaela Kuhn, Daniëlle C M van der Kaay

J Clin Endocrinol Metab. 2020 Jul; 105(7): 2354–2366. Published online 2020 Apr 16. doi: 10.1210/clinem/dgaa190

PMCID:: PMC7450217

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Select item 728402312.

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders

Pernille A. Gregersen, Victoria McKay, Maie Walsh, Erica Brown, George McGillivray, Ravi Savarirayan

Mol Genet Genomic Med. 2020 Jun; 8(6): e1173. Published online 2020 Apr 18. doi: 10.1002/mgg3.1173

PMCID:: PMC7284023

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Select item 705708513.

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

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Select item 701913514.

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

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Select item 692383815.

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia

Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang, Qinglin Kang

BMC Med Genet. 2019; 20: 200. Published online 2019 Dec 19. doi: 10.1186/s12881-019-0937-1

PMCID:: PMC6923838

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Select item 684935916.

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

Cedric Le Caignec, Benjamin Ory, François Lamoureux, Marie-Francoise O’Donohue, Emilien Orgebin, Pierre Lindenbaum, Stéphane Téletchéa, Manon Saby, Anna Hurst, Katherine Nelson, Shawn R. Gilbert, Yael Wilnai, Leonid Zeitlin, Eitan Segev, Robel Tesfaye, Mathilde Nizon, Benjamin Cogne, Stéphane Bezieau, Loic Geoffroy, Antoine Hamel, Emmanuelle Mayrargue, Benoît de Courtivron, Aliette Decock-Giraudaud, Céline Charrier, Olivier Pichon, Christelle Retière, Richard Redon, Alexander Pepler, Kirsty McWalter, Lydie Da Costa, Annick Toutain, Pierre-Emmanuel Gleizes, Marc Baud’huin, Bertrand Isidor

Am J Hum Genet. 2019 Nov 7; 105(5): 1040–1047. Published online 2019 Oct 17. doi: 10.1016/j.ajhg.2019.09.024