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2020 4
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Page 1
FOXA1 O-GlcNAcylation-mediated transcriptional switch governs metastasis capacity in breast cancer.
Liu Y, Yu K, Kong X, Zhang K, Wang L, Zhang N, Chen Q, Niu M, Li W, Zhong X, Wu S, Zhang J, Liu Y. Liu Y, et al. Sci Adv. 2023 Aug 18;9(33):eadg7112. doi: 10.1126/sciadv.adg7112. Epub 2023 Aug 18. Sci Adv. 2023. PMID: 37595040 Free PMC article.
O-GlcNAcylation shapes the FOXA1 interactome, especially triggering the recruitment of the transcriptional repressor methyl-CpG binding protein 2 and consequently stimulating FOXA1 chromatin-binding sites to switch to chromatin loci of adhesion-related genes, including EPB41L3 an …
O-GlcNAcylation shapes the FOXA1 interactome, especially triggering the recruitment of the transcriptional repressor methyl-CpG binding prot …
Autosomal Recessive Stickler Syndrome.
Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP. Nixon TRW, et al. Genes (Basel). 2022 Jun 24;13(7):1135. doi: 10.3390/genes13071135. Genes (Basel). 2022. PMID: 35885918 Free PMC article. Review.
Usually inherited in a dominant fashion due to heterozygous pathogenic variants in the collagen genes COL2A1 and COL11A1, it can rarely be inherited in a recessive fashion from variants in COL9A1, COL9A2, and COL9A3, COL11A1, as well as the non-collagen genes LRP2, LOXL3 a …
Usually inherited in a dominant fashion due to heterozygous pathogenic variants in the collagen genes COL2A1 and COL11A1, it can rarely be i …
Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.
Chen M, Miao H, Liang H, Ke X, Yang H, Gong F, Wang L, Duan L, Chen S, Pan H, Zhu H. Chen M, et al. Front Endocrinol (Lausanne). 2022 Feb 16;13:820001. doi: 10.3389/fendo.2022.820001. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35250876 Free PMC article.
PATIENTS AND METHODS: One hundred and six children with short stature and skeletal abnormalities were enrolled who were evaluated by next-generation sequencing (NGS) to detect variants in the skeletal collagen genes including COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, …
PATIENTS AND METHODS: One hundred and six children with short stature and skeletal abnormalities were enrolled who were evaluated by next-ge …
Lack of association between COL1A1 and COL9A2 single nucleotide polymorphisms and intervertebral disc degeneration.
Hanaei S, Abdollahzade S, Sadr M, Fattahi E, Mirbolouk MH, Khoshnevisan A, Rezaei N. Hanaei S, et al. Br J Neurosurg. 2021 Feb;35(1):77-79. doi: 10.1080/02688697.2020.1765971. Epub 2020 May 18. Br J Neurosurg. 2021. PMID: 32419506
The primers for SNPs COL1A1 rs909102 and COL9A2 were designed based on the TaqMan protocol and genotyped by real-time PCR with TaqMan. ...CONCLUSION: The allele and genotype distributions of COL1A1 rs909102 and COL9A2 rs137853213 SNPs were not significantly associat …
The primers for SNPs COL1A1 rs909102 and COL9A2 were designed based on the TaqMan protocol and genotyped by real-time PCR with TaqMan …
Multiomics Identifies Potential Biomarkers in Ankylosing Spondylitis Bone Formation.
Yang L, Bo C, Chen M, Chen B, Zeng R, Zhou Y, Du H, He X. Yang L, et al. Hum Mutat. 2025 Aug 8;2025:8771129. doi: 10.1155/humu/8771129. eCollection 2025. Hum Mutat. 2025. PMID: 40822862 Free PMC article.
Four machine learning model algorithms determined the Top 5 genes (RIOK1, FUCA2, COL9A2, USP16, and TTC16) with the highest importance scores and constructed a nomogram to evaluate the risk probability. ...Compared to the normal control group, we found that the levels of F …
Four machine learning model algorithms determined the Top 5 genes (RIOK1, FUCA2, COL9A2, USP16, and TTC16) with the highest importanc …
Hearing Loss in Stickler Syndrome: An Update.
Acke FRE, De Leenheer EMR. Acke FRE, et al. Genes (Basel). 2022 Sep 1;13(9):1571. doi: 10.3390/genes13091571. Genes (Basel). 2022. PMID: 36140739 Free PMC article. Review.
Large phenotypical variability is apparent and partly explained by the underlying genetic heterogeneity, including collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3) and non-collagen genes (BMP4, LRP2, LOXL3). The most frequent type of Stickler syndrome (COL …
Large phenotypical variability is apparent and partly explained by the underlying genetic heterogeneity, including collagen genes (COL2A1, C …
The Role of Polymorphisms in Collagen-Encoding Genes in Intervertebral Disc Degeneration.
Trefilova VV, Shnayder NA, Petrova MM, Kaskaeva DS, Tutynina OV, Petrov KV, Popova TE, Balberova OV, Medvedev GV, Nasyrova RF. Trefilova VV, et al. Biomolecules. 2021 Aug 26;11(9):1279. doi: 10.3390/biom11091279. Biomolecules. 2021. PMID: 34572492 Free PMC article. Review.
Despite an extensive search, it is possible that we might have missed some studies published in recent years. (3) Results: According to the data of genome-wide and associative genetic studies, the following candidate genes that play a role in the biology of IVDs and the genetic b …
Despite an extensive search, it is possible that we might have missed some studies published in recent years. (3) Results: According to the …
Association between polymorphisms of collagen genes and susceptibility to intervertebral disc degeneration: a meta-analysis.
Xie G, Liang C, Yu H, Zhang Q. Xie G, et al. J Orthop Surg Res. 2021 Oct 18;16(1):616. doi: 10.1186/s13018-021-02724-8. J Orthop Surg Res. 2021. PMID: 34663366 Free PMC article. Review.
Here, we performed a meta-analysis to investigate the association of collagen IX alpha 2 (COL9A2) Trp2, collagen IX alpha 3 (COL9A3) Trp3, collagen I alpha 1 (COL1A1) Sp1 and collagen XI alpha 1 (COL11A1) C4603T polymorphisms with susceptibility to IVDD. ...RESULTS: A tota …
Here, we performed a meta-analysis to investigate the association of collagen IX alpha 2 (COL9A2) Trp2, collagen IX alpha 3 (COL9A3) …
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.
Kjellström U, Martell S, Brobeck C, Andréasson S. Kjellström U, et al. Ophthalmic Genet. 2021 Apr;42(2):161-169. doi: 10.1080/13816810.2020.1861309. Epub 2020 Dec 27. Ophthalmic Genet. 2021. PMID: 33356723
The inheritance is autosomal dominant with mutations in COL2A1, COL11A1, or COL11A2 or autosomal recessive due to mutations in COL9A1, COL9A2, or COL9A3. We describe a family with Stickler syndrome caused by homozygous loss-of-function mutations in COL9A2.Methods: T …
The inheritance is autosomal dominant with mutations in COL2A1, COL11A1, or COL11A2 or autosomal recessive due to mutations in COL9A1, CO …
Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.
Plachy L, Dusatkova P, Maratova K, Petruzelkova L, Elblova L, Kolouskova S, Snajderova M, Obermannova B, Zemkova D, Sumnik Z, Lebl J, Pruhova S. Plachy L, et al. J Clin Endocrinol Metab. 2021 May 13;106(6):1742-1749. doi: 10.1210/clinem/dgab084. J Clin Endocrinol Metab. 2021. PMID: 33570564
Next-generation sequencing was performed to search for variants in the COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, and COL11A2 genes. The results were evaluated using American College of Medical Genetics and Genomics guidelines. ...
Next-generation sequencing was performed to search for variants in the COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, and COL11A2 …
21 results