Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24136
Abstract: Alpha‐chain collagen molecules encoded by genes that include COL11A1 are essential for skeletal, ocular, and auditory function. COL11A1 variants have been reported in syndromes involving these organ systems. However, a description of the complete clinical… read more here.
Keywords: dominant nonsyndromic; hearing loss; autosomal dominant; col11a1 ... See more keywords
Comment on "A COL11A1-correlated pan-cancer gene signature of activated fibroblasts for the prioritization of therapeutic targets," Cancer Lett. 2016 Nov 28; 382 (2): 203-214.
Sign Up to like & getrecommendations! Published in 2017 at "Cancer letters"
DOI: 10.1016/j.canlet.2017.02.002
Abstract: I read with interest the recent Cancer Letters article by Jia et al. [1]. I would like to point out that the computational discovery of the multi-cancer nature of the signature has already been previously… read more here.
Keywords: cancer types; col11a1; signature; cancer ... See more keywords
Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.40
Abstract: Marshall–Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study,… read more here.
Keywords: col11a1; col2a1; spectrum; stickler syndrome ... See more keywords
Lessons learned from the DFNA37 gene discovery odyssey
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0395-8
Abstract: Despite significant advances in genetic technology, variant detection is still not as successful as it might be, even for cases and conditions that are clearly Mendelian. One way to increase the detection rate is by… read more here.
Keywords: dfna37 gene; col11a1; variant; gene ... See more keywords
MiR-4458-loaded gelatin nanospheres target COL11A1 for DDR2/SRC signaling pathway inactivation to suppress the progression of estrogen receptor-positive breast cancer.
Sign Up to like & getrecommendations! Published in 2022 at "Biomaterials science"
DOI: 10.1039/d2bm00543c
Abstract: RNA interference is a promising way to treat cancer and the construction of a stable drug delivery system is critically important for its application. Gelatin nanospheres (GNs) comprise a biodegradable drug vehicle with excellent biocompatibility,… read more here.
Keywords: breast cancer; mir 4458; col11a1; cancer ... See more keywords
COL11A1 as a potential prognostic target for oral squamous cell carcinoma
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000030989
Abstract: Oral squamous cell carcinoma (OSCC) is a malignant tumor occurring in the oral cavity. However, the molecular mechanism of OSCC is not clear. Bioinformatics was used to screen and identify role of collagen type X1… read more here.
Keywords: regression; squamous cell; analysis; oral squamous ... See more keywords
Abstract 3269: LRRC15/COL11A1+cancer-associated fibroblasts drive immunosuppression and chemotherapy resistance in pancreatic ductal adenocarcinoma
Sign Up to like & getrecommendations! Published in 2025 at "Cancer Research"
DOI: 10.1158/1538-7445.am2025-3269
Abstract: Pancreatic ductal adenocarcinoma (PDAC) is characterized by a highly immunosuppressive tumor microenvironment (TME), which contributes to immune evasion, chemotherapy resistance, and poor prognosis. Cancer-associated fibroblasts (CAFs) are key components of the TME and are closely… read more here.
Keywords: cancer; col11a1; col11a1 cafs; lrrc15 col11a1 ... See more keywords
An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report
Sign Up to like & getrecommendations! Published in 2025 at "Case Reports in Ophthalmology"
DOI: 10.1159/000542708
Abstract: Abstract Introduction: Stickler syndrome is a rare collagenopathy, caused by mutations in various genes coding for fibrillar collagens II, IX, and XI. The disorder can be subdivided into different groups, depending on the genes affected… read more here.
Keywords: col11a1; case report; ophthalmology; case ... See more keywords
COL11A1 serves as a biomarker for poor prognosis and correlates with immune infiltration in breast cancer
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.935860
Abstract: Breast cancer is the malignant tumor with the highest incidence rate at present, and its incidence rate ranks first in the female population. COL11A1 is an important component of collagen XI and is considered to… read more here.
Keywords: immune infiltration; breast cancer; breast; col11a1 ... See more keywords
Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2025.1642604
Abstract: Background Stickler syndrome (STL) is a group of related connective tissue disorders characterized by heterogeneous clinical presentations with varying degrees of orofacial, ocular, skeletal, and auditory abnormalities. However, this condition is difficult to diagnose on… read more here.
Keywords: minigene splicing; col11a1; novel pathogenic; pathogenic splicing ... See more keywords
COL11A1-Driven Epithelial–Mesenchymal Transition and Stemness of Pancreatic Cancer Cells Induce Cell Migration and Invasion by Modulating the AKT/GSK-3β/Snail Pathway
Sign Up to like & getrecommendations! Published in 2022 at "Biomolecules"
DOI: 10.3390/biom12030391
Abstract: Background: Collagen type XI α1 (COL11A1) is associated with tumorigenesis and development in many human malignancies. Previous reports indicate that COL11A1 may be a significant diagnostic marker for pancreatic ductal adenocarcinoma (PDAC); however, its biological… read more here.
Keywords: col11a1; gsk; migration; snail ... See more keywords