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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the mo …
A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A …
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, COL10A …
PATIENTS AND METHODS: One hundred and six children with short stature and skeletal abnormalities were enrolled who were evaluated by next-ge …
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
The contribution of ACTG1 and WFS1 drops to 9% in both cases, followed by POU4F3 (6.5%), MYO7A (5%), MYH14 and COL11A2 (4% each). Four additional genes contribute 2.5% each one (MITF, KCNQ4, EYA4, SOX10) and the remaining are residually represented. ...
The contribution of ACTG1 and WFS1 drops to 9% in both cases, followed by POU4F3 (6.5%), MYO7A (5%), MYH14 and COL11A2 (4% each). Fou …
Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes.
Alakhdar Y, Cook J, Gallego D, Querol F, Chulvi-Medrano I, Alberola A, Hernández-Sánchez S. Alakhdar Y, et al. Clin J Sport Med. 2023 Sep 1;33(5):e152-e156. doi: 10.1097/JSM.0000000000000937. Epub 2021 May 7. Clin J Sport Med. 2023. PMID: 34009784
MAIN OUTCOME MEASURES: We hypothesized that the following single nucleotide polymorphisms: COL5a1 rs12722, COL11a1 rs3753841, COL11a1 rs1676486, and COL11a2 rs1799907 would be associated with rotator cuff tendinopathy. RESULTS: A direct relationship between CC genotype and …
MAIN OUTCOME MEASURES: We hypothesized that the following single nucleotide polymorphisms: COL5a1 rs12722, COL11a1 rs3753841, COL11a1 rs1676 …
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. Rebello D, et al. Hum Mol Genet. 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. Hum Mol Genet. 2023. PMID: 37462524 Free PMC article.
These substitutions are predicted to be damaging to protein function, and R130 and R1407 residues are conserved in zebrafish Col11a2. To determine the role for COL11A2 in vertebral development, CRISPR/Cas9 was used to create a nonsense mutation (col11a2L642*) as wel …
These substitutions are predicted to be damaging to protein function, and R130 and R1407 residues are conserved in zebrafish Col11a2. …
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 …
Genetic associations in ankylosing spondylitis: circulating proteins as drug targets and biomarkers.
Zhang Y, Liu W, Lai J, Zeng H. Zhang Y, et al. Front Immunol. 2024 May 21;15:1394438. doi: 10.3389/fimmu.2024.1394438. eCollection 2024. Front Immunol. 2024. PMID: 38835753 Free PMC article.
RESULTS: Our analysis identified 1,654 plasma proteins linked to AS, with 868 up-regulated and 786 down-regulated. 18 proteins (AGER, AIF1, ATF6B, C4A, CFB, CLIC1, COL11A2, ERAP1, HLA-DQA2, HSPA1L, IL23R, LILRB3, MAPK14, MICA, MICB, MPIG6B, TNXB, and VARS1) that show promi …
RESULTS: Our analysis identified 1,654 plasma proteins linked to AS, with 868 up-regulated and 786 down-regulated. 18 proteins (AGER, AIF1, …
Molecular autopsy in maternal-fetal medicine.
Shamseldin HE, Kurdi W, Almusafri F, Alnemer M, Alkaff A, Babay Z, Alhashem A, Tulbah M, Alsahan N, Khan R, Sallout B, Al Mardawi E, Seidahmed MZ, Meriki N, Alsaber Y, Qari A, Khalifa O, Eyaid W, Rahbeeni Z, Kurdi A, Hashem M, Alshidi T, Al-Obeid E, Abdulwahab F, Ibrahim N, Ewida N, El-Akouri K, Al Mulla M, Ben-Omran T, Pergande M, Cirak S, Al Tala S, Shaheen R, Faqeih E, Alkuraya FS. Shamseldin HE, et al. Genet Med. 2018 Apr;20(4):420-427. doi: 10.1038/gim.2017.111. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28749478 Free article.
These variants were in genes known to cause embryonic or perinatal lethality (ALPL, GUSB, SLC17A5, MRPS16, THSD1, PIEZO1, and CTSA), genes known to cause Mendelian phenotypes that do not typically include embryonic lethality (INVS, FKTN, MYBPC3, COL11A2, KRIT1, ASCC1, NEB, …
These variants were in genes known to cause embryonic or perinatal lethality (ALPL, GUSB, SLC17A5, MRPS16, THSD1, PIEZO1, and CTSA), genes k …
Genetic variants in COL11A2 of lumbar disk degeneration among Chinese Han population.
Yang X, Jia H, Xing W, Li F, Li M, Sun K, Zhu Y. Yang X, et al. Mol Genet Genomic Med. 2019 Feb;7(2):e00524. doi: 10.1002/mgg3.524. Epub 2018 Dec 8. Mol Genet Genomic Med. 2019. PMID: 30548218 Free PMC article.
METHODS: We conducted a case-control association study to investigate the role of the COL11A2 gene in LDD. Genotyping of 384 Chinese Han LDD patients and 384 Chinese Han controls was made for six single-nucleotide polymorphisms (SNPs) from COL11A2 by Agena Massarray …
METHODS: We conducted a case-control association study to investigate the role of the COL11A2 gene in LDD. Genotyping of 384 Chinese …
Protein sequence comparison of human and non-human primate tooth proteomes.
Froment C, Zanolli C, Hourset M, Mouton-Barbosa E, Moreira A, Burlet-Schiltz O, Mollereau C. Froment C, et al. J Proteomics. 2021 Jan 16;231:104045. doi: 10.1016/j.jprot.2020.104045. Epub 2020 Nov 13. J Proteomics. 2021. PMID: 33189847
Among the 25 proteins shared by the five genera datasets, we found a combination of peptides with sequence variations allowing to differentiate the hominid taxa in the proteins AHSG, AMBN, APOA1, BGN, C9, COL11A2, COL22A1, COL3A1, DSPP, F2, LUM, OMD, PCOLCE and SERPINA1. T …
Among the 25 proteins shared by the five genera datasets, we found a combination of peptides with sequence variations allowing to differenti …
65 results