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Page 1
COL25A1 and METAP1D DNA methylation are promising liquid biopsy epigenetic biomarkers of colorectal cancer using digital PCR.
Overs A, Peixoto P, Hervouet E, Molimard C, Monnien F, Durand J, Guittaut M, Vienot A, Viot J, Herfs M, Borg C, Feugeas JP, Selmani Z. Overs A, et al. Clin Epigenetics. 2024 Oct 18;16(1):146. doi: 10.1186/s13148-024-01748-1. Clin Epigenetics. 2024. PMID: 39425144 Free PMC article.
The in silico profile was then validated on local tissue and cell-free DNA samples using methylation-specific digital PCR in colorectal cancer patients (n = 35) and healthy donors (n = 35). RESULTS: The DNA methylation of COL25A1 and METAP1D was predicted to be a colorecta …
The in silico profile was then validated on local tissue and cell-free DNA samples using methylation-specific digital PCR in colorectal canc …
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, Munot P, Hunter DG, Feng L, Ledoux D, O'Donnell-Luria A, Phadke R, Engle EC, Sarkozy A, Muntoni F. Natera-de Benito D, et al. Hum Mutat. 2022 Apr;43(4):487-498. doi: 10.1002/humu.24333. Epub 2022 Feb 3. Hum Mutat. 2022. PMID: 35077597 Free PMC article.
Despite this, thus far, pathogenic recessive variants in the COL25A1 gene had only been detected in a few patients with isolated ocular congenital cranial dysinnervation disorders. ...This study extends the phenotypic and genotypic spectrum of COL25A1 related condit …
Despite this, thus far, pathogenic recessive variants in the COL25A1 gene had only been detected in a few patients with isolated ocul …
Neuronal Phenotype of col4a1 and col25a1: An Intriguing Hypothesis in Vertebrates Brain Aging.
Leggieri A, Attanasio C, Palladino A, de Girolamo P, Lucini C, D'Angelo L. Leggieri A, et al. Int J Mol Sci. 2022 Feb 4;23(3):1778. doi: 10.3390/ijms23031778. Int J Mol Sci. 2022. PMID: 35163698 Free PMC article.
We showed that col4a1 and col25a1 are relatively well conserved during vertebrate evolution, and their expression significantly increases in the brain of N. furzeri upon aging. Noteworthy, we report that both col4a1 and col25a1 are expressed in cells with a neuronal …
We showed that col4a1 and col25a1 are relatively well conserved during vertebrate evolution, and their expression significantly incre …
COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo.
Tong Y, Xu Y, Scearce-Levie K, Ptácek LJ, Fu YH. Tong Y, et al. Neurogenetics. 2010 Feb;11(1):41-52. doi: 10.1007/s10048-009-0201-5. Epub 2009 Jun 23. Neurogenetics. 2010. PMID: 19548013 Free PMC article.
COL25A1 alleles have been associated with increased risk for AD in a Swedish population. ...In stable cell lines, motifs in noncollagenous domains of COL25A1 were important for the induction of BACE1 expression. These findings demonstrate that COL25A1 leads t …
COL25A1 alleles have been associated with increased risk for AD in a Swedish population. ...In stable cell lines, motifs in noncollag …
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N. Shinwari JM, et al. Am J Hum Genet. 2015 Jan 8;96(1):147-52. doi: 10.1016/j.ajhg.2014.11.006. Epub 2014 Dec 11. Am J Hum Genet. 2015. PMID: 25500261 Free PMC article.
By using linkage analysis, candidate gene screening, and exome sequencing, we identified three mutations in collagen, type XXV, alpha 1 (COL25A1) in individuals with autosomal-recessive inheritance of CCDD ophthalmic phenotypes. ...We further detected altered levels of sAP …
By using linkage analysis, candidate gene screening, and exome sequencing, we identified three mutations in collagen, type XXV, alpha 1 ( …
Integrated Single-Cell Analysis Reveals Spatially and Temporally Dynamic Heterogeneity in Fibroblast States during Wound Healing.
Almet AA, Liu Y, Nie Q, Plikus MV. Almet AA, et al. J Invest Dermatol. 2025 Mar;145(3):645-659.e25. doi: 10.1016/j.jid.2024.06.1281. Epub 2024 Jul 15. J Invest Dermatol. 2025. PMID: 39019149 Free PMC article.
Within days, they become replaced by long-lasting and likely noninterconverting fibroblast populations, including Col25a1-expressing and Pamr1-expressing fibroblasts that occupy subepidermal and deep scar regions, respectively, where they engage in reciprocal signaling wit …
Within days, they become replaced by long-lasting and likely noninterconverting fibroblast populations, including Col25a1-expressing …
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.
Harms FL, Müller C, Kortüm F, Hempel M, Alawi M, Zaki MS, Elhossini RM, Abdel-Hamid MS, AlAbdi L, Alkuraya FS, Kurdi W, Celse T, Spodenkiewicz M, Laurens T, Dieterich K, Jagadeesh S, Salvankar S, Girisha KM, Kutsche K. Harms FL, et al. Eur J Hum Genet. 2025 Mar 29. doi: 10.1038/s41431-025-01839-4. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40158061
COL25A1 contains four non-collagenous and three collagenous domains. Three alternatively spliced COL25A1 transcript variants are known. ...Analysis of transcriptome sequencing data from primary human fibroblasts without COL25A1 pathogenic variants revealed no …
COL25A1 contains four non-collagenous and three collagenous domains. Three alternatively spliced COL25A1 transcript variants a …
Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.
Khan AO, Al-Mesfer S. Khan AO, et al. J AAPOS. 2015 Oct;19(5):463-5. doi: 10.1016/j.jaapos.2015.04.011. J AAPOS. 2015. PMID: 26486031
Congenital cranial dysinnervation disorders are phenotypes of incomitant strabismus and/or ptosis. Recessive mutations in COL25A1 are a recently reported cause, but the associated ophthalmic phenotypes have not been detailed. ...Further study is needed to understand how fr …
Congenital cranial dysinnervation disorders are phenotypes of incomitant strabismus and/or ptosis. Recessive mutations in COL25A1 are …
Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1.
Khan AO, Shinwari JM, Al-Tassan NA. Khan AO, et al. J AAPOS. 2016 Dec;20(6):542-544.e2. doi: 10.1016/j.jaapos.2016.05.019. Epub 2016 Sep 20. J AAPOS. 2016. PMID: 27663630
However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated with bi-allelic mutations in the gene COL25A1, raising the possibility that this particular Duane syndrome phenotype could be a monogenic recessive CCDD. To explore th …
However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated with bi-allelic mutations in the g …
Genetic association to the amyloid plaque associated protein gene COL25A1 in Alzheimer's disease.
Forsell C, Björk BF, Lilius L, Axelman K, Fabre SF, Fratiglioni L, Winblad B, Graff C. Forsell C, et al. Neurobiol Aging. 2010 Mar;31(3):409-15. doi: 10.1016/j.neurobiolaging.2008.04.009. Epub 2008 May 22. Neurobiol Aging. 2010. PMID: 18501477
The COL25A1 gene, located in 4q25, encodes the CLAC protein, which has been implicated in Alzheimer's disease (AD) pathogenesis. ...These biochemical data as well as the genomic location of the COL25A1 gene in chromosome 4q25 where we previously have reported a weak …
The COL25A1 gene, located in 4q25, encodes the CLAC protein, which has been implicated in Alzheimer's disease (AD) pathogenesis. ...T …
45 results