Xu Y - Search Results

1

Endoplasmic reticulum stress causes long bone shortening in P4hb^C402R/+ mice: A mouse model exhibiting significant features of cole-carpenter syndrome driven by P4HB mutations.

Xu S, Xu Y, Wang Z, Wei Z, Mei Y, Cao Y, Li B, Zhang H, Zhang Z. Xu S, et al. Among authors: xu y. Biochim Biophys Acta Mol Basis Dis. 2025 Jan 6;1871(3):167663. doi: 10.1016/j.bbadis.2025.167663. Online ahead of print. Biochim Biophys Acta Mol Basis Dis. 2025. PMID: 39778777

2

Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.

Tao XH, Yang XG, Wang ZY, Xu Y, Lin XY, Xu T, Zhang ZL, Yue H. Tao XH, et al. Among authors: xu t, xu y. Mol Genet Genomic Med. 2022 May;10(5):e1922. doi: 10.1002/mgg3.1922. Epub 2022 Mar 21. Mol Genet Genomic Med. 2022. PMID: 35315241 Free PMC article.

3

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case.

Han X, Xu Y, Wei Z, Wang C, Yue H, Zhang Z. Han X, et al. Among authors: xu y. Mol Genet Genomic Med. 2022 Oct;10(10):e2043. doi: 10.1002/mgg3.2043. Epub 2022 Aug 25. Mol Genet Genomic Med. 2022. PMID: 36004822 Free PMC article.

4

Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.

Xu Y, Kang Q, Zhang Z. Xu Y, et al. Mol Med Rep. 2017 Oct;16(4):5599-5605. doi: 10.3892/mmr.2017.7252. Epub 2017 Aug 14. Mol Med Rep. 2017. PMID: 28849184

5

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.

Zhang H, Xu Y, Yue H, Wang C, Gu J, He J, Fu W, Hu W, Zhang Z. Zhang H, et al. Among authors: xu y. Int J Mol Med. 2018 Jun;41(6):3662-3670. doi: 10.3892/ijmm.2018.3542. Epub 2018 Mar 7. Int J Mol Med. 2018. PMID: 29512769

6

A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).

Xu Y, Kang QL, Zhang ZL. Xu Y, et al. Neuromuscul Disord. 2018 May;28(5):456-462. doi: 10.1016/j.nmd.2018.03.002. Epub 2018 Mar 8. Neuromuscul Disord. 2018. PMID: 29625835

7

Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.

Xu Y, Li L, Wang C, Yue H, Zhang H, Gu J, Hu W, Liu L, Zhang Z. Xu Y, et al. Int J Biol Sci. 2020 Jan 16;16(5):859-868. doi: 10.7150/ijbs.38811. eCollection 2020. Int J Biol Sci. 2020. PMID: 32071555 Free PMC article.

8

Primary hypertrophic osteoarthropathy: genetics, clinical features and management.

Lu Q, Xu Y, Zhang Z, Li S, Zhang Z. Lu Q, et al. Among authors: xu y. Front Endocrinol (Lausanne). 2023 Aug 29;14:1235040. doi: 10.3389/fendo.2023.1235040. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37705574 Free PMC article. Review.

9

Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.

Lu Q, Xu Y, Li S, Zhang Z, Sheng J, Zhang Z. Lu Q, et al. Among authors: xu y. Int J Biol Sci. 2022 Jun 6;18(9):3908-3917. doi: 10.7150/ijbs.71261. eCollection 2022. Int J Biol Sci. 2022. PMID: 35813463 Free PMC article.

10

Undercarboxylated Osteocalcin and Its Associations With Bone Mineral Density, Bone Turnover Markers, and Prevalence of Osteopenia and Osteoporosis in Chinese Population: A Cross-Sectional Study.

Xu Y, Shen L, Liu L, Zhang Z, Hu W. Xu Y, et al. Front Endocrinol (Lausanne). 2022 Jul 8;13:843912. doi: 10.3389/fendo.2022.843912. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35898467 Free PMC article.

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