ArticleHuman genetics2015
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 71 citations in OpenAlex.
- Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.JPRAS open · 2026Article
- Bone matrix proteins: regulators of skeletal remodeling and repair.Journal of bone and mineral metabolism · 2026Review
- Integrated genetic identification and molecular dynamics simulations in a novelFrontiers in genetics · 2026Article
- Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.PloS one · 2026Article
- The "dual personality" of LOXL3: a tumor accomplice and a new hope for immunotherapy.Human cell · 2025Review
- Loxl3 Affects Palatal Shelf Elevation by Regulating Cell Proliferation and Collagen Deposition.International journal of molecular sciences · 2025Article
- Molecular Regulation of Palatogenesis and Clefting: An Integrative Analysis of Genetic, Epigenetic Networks, and Environmental Interactions.International journal of molecular sciences · 2025Review
- IMI-Management and Investigation of High Myopia in Infants and Young Children.Investigative ophthalmology & visual science · 2023Article
- The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.Investigative ophthalmology & visual science · 2023Article
- Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations inFrontiers in genetics · 2023Article
- Hearing Loss in Stickler Syndrome: An Update.Genes · 2022Review
- Autosomal Recessive Stickler Syndrome.Genes · 2022Review
- Loxl2 and Loxl3 Paralogues Play Redundant Roles during Mouse Development.International journal of molecular sciences · 2022Article
- Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.Human genetics · 2022Review
- Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.Orphanet journal of rare diseases · 2022Article
- Loxl3 Promotes Melanoma Progression and Dissemination Influencing Cell Plasticity and Survival.Cancers · 2022Article
- Implications of lysyl oxidase-like protein 3 expression in the periodontium of diabetic rats.Journal of applied oral science : revista FOB · 2022Article
- LOXL3 Silencing Affected Cell Adhesion and Invasion in U87MG Glioma Cells.International journal of molecular sciences · 2021Article
- Review
- Targeted Deletion of Loxl3 by Col2a1-Cre Leads to Progressive Hearing Loss.Frontiers in cell and developmental biology · 2021Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Stickler syndrome (SS) is a collagenopathy characterized by arthropathy and vitreoretinopathy with high myopia and cleft palate as common features. In a family with an autosomal recessive SS that does not map to genes known to cause autosomal recessive forms of SS, we combined autozygome and exome analysis to identify a novel missense variant in LOXL3 as the likely candidate cause. LOXL3 cross-links collagen II and its morphants phenocopy the craniofacial defects characteristic of collagen XI deficiency. We propose LOXL3 as a novel candidate gene for autosomal recessive SS.
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