Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.R141L
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LOXL1

NM_005576.4:p.R141L

Associated Papers

An integrative neurogenomics workflow for precision medicine in neurodegenerative disorders.

Perezcano C et al.

Frontiers in Dementia, 2026

41717632 (PubMed )
Supplement: Table_2.xlsx › Hoja1

Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes.

Du Y et al.

Genomics, Proteomics & Bioinformatics, 2025

40300110 (PubMed )
Supplement: qzaf039_supplementary_data.zip › Table_S1.xlsx › Sheet1

Association between gene polymorphisms and glaucoma susceptibility among Africans: a systematic review and meta-analysis.

Asiamah R et al.

Ophthalmic Genetics, 2025

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

Protein misfolding and mitochondrial dysfunction in glaucoma.

Venkatesan A et al.

Frontiers in Cell and Developmental Biology, 2025

Rodent genetically modified models of glaucoma.

Loo Y et al.

Molecular Aspects of Medicine, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Lack of Association between LOXL1 Variants and Pigment Dispersion Syndrome/Pigmentary Glaucoma: A Meta-Analysis.

Rong S et al.

Genes, 2024

A Study on the Candidate Gene Association and Interaction with Measures of UV Exposure in Pseudoexfoliation Patients from India.

Kandeeban S et al.

Current Eye Research, 2023

Current understanding of genetics and epigenetics in pseudoexfoliation syndrome and glaucoma.

Kapuganti RS et al.

Molecular Aspects of Medicine, 2023

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.

Roychowdhury T et al.

Nature Genetics, 2023

37845353 (PubMed )
Supplement: 41588_2023_1510_MOESM4_ESM.xls › S2

Genome-Wide RNA Sequencing of Human Trabecular Meshwork Cells Treated with TGF-β1: Relevance to Pseudoexfoliation Glaucoma.

Roodnat AW et al.

Biomolecules, 2022

Prevalence of risk alleles in the lysyl oxidase-like 1 gene in pseudoexfoliation glaucoma patients in India.

Vallabh NA et al.

Indian Journal of Ophthalmology, 2022

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Skuladottir AT et al.

Nature Communications, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

The haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia.

Eliseeva N et al.

Ophthalmic Genetics, 2021

Correlation of the intronic LOXL1 polymorphism rs11638944 with pseudoexfoliation syndrome and glaucoma in a Greek population.

Papadopoulou MK et al.

Ophthalmic Genetics, 2021

Pseudoexfoliation syndrome and glaucoma: from genes to disease mechanisms.

Schlötzer-Schrehardt U et al.

Current Opinion in Ophthalmology, 2021

[Study of the functional significance of polymorphic loci of the LOXL1 gene associated with glaucoma according to genome-wide studies (in silico analysis)].

Eliseeva NV et al.

Vestnik Oftalmologii, 2021

Associations of polymorphisms in LOXL1 and copper chaperone genes with pseudoexfoliation-syndrome-related cataract in a Chinese Uygur population.

Jing Q et al.

International Ophthalmology, 2020

Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.

Hysi PG et al.

Nature Genetics, 2020

Recent advances in risk factors associated with ocular exfoliation syndrome.

Ghaffari Sharaf M et al.

Acta Ophthalmologica, 2020

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.

Berner D et al.

Human Molecular Genetics, 2019

Lack of association between lysyl oxidase-like 1 polymorphism in pseudoexfoliation syndrome and pseudoexfoliation glaucoma in North Indian population.

Pandav SS et al.

European Journal of Ophthalmology, 2019

Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome.

Karaca I et al.

International Ophthalmology, 2019

LOXL1 GENE VARIANTS IN ASSOCIATION WITH EXFOLIATION SYNDROME IN GEORGIAN POPULATION.

Kobakhidze N et al.

Georgian Medical News, 2019

Three Single Nucleotide Polymorphisms of LOXL1' in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma.

Yaz Y et al.

Turkish Journal of Ophthalmology, 2018

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.

Shiga Y et al.

Human Molecular Genetics, 2018

GWAS links variants in neuronal development and actin remodeling related loci with pseudoexfoliation syndrome without glaucoma.

Zagajewska K et al.

Experimental Eye Research, 2018

Genetic Risk Factors for Glaucoma and Exfoliation Syndrome Identified by Genome-wide Association Studies.

Sakurada Y et al.

Current Neuropharmacology, 2018

Association of LOXL1 gene common sequence variants in Jordanian patients with exfoliation syndrome and exfoliative glaucoma.

Shihadeh W et al.

International Journal of Ophthalmology, 2018

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Aung T et al.

Nature Genetics, 2017

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1.

Pasutto F et al.

Nature Communications, 2017

Association of Lysyl Oxidase-Like 1 Gene Polymorphism in Turkish Patients With Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma.

Asfuroglu M et al.

Journal of Glaucoma, 2017

Genetics, Diagnosis, and Monitoring of Pseudoexfoliation Glaucoma.

Nathan N et al.

Current Ophthalmology Reports, 2016

LOXL1 gene analysis in Turkish patients with exfoliation glaucoma.

Yilmaz SG et al.

International Ophthalmology, 2016

Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome.

Sharma S et al.

Experimental Eye Research, 2016

LOXL1 Gene Polymorphism With Exfoliation Syndrome/Exfoliation Glaucoma: A Meta-Analysis.

Wang L et al.

Journal of Glaucoma, 2016

Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population.

de Juan-Marcos L et al.

Ophthalmic Genetics, 2016

Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome.

Panoutsopoulos AA et al.

Clinical Ophthalmology (auckland, N.z.), 2016

Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.

Hauser MA et al.

Human Molecular Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."