Varaico: Literature-Extracted Genetic Variants

Gene:LOXL1
Variant:p.G153D
Back to variants list

LOXL1

NM_005576.4:p.G153D

Associated Papers

Genetic Association of Primary Angle-Closure Glaucoma and Disease Progression.

Liang YJ et al.

Clinical & Experimental Ophthalmology, 2025

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

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

Asiamah R et al.

Ophthalmic Genetics, 2025

Protein misfolding and mitochondrial dysfunction in glaucoma.

Venkatesan A et al.

Frontiers in Cell and Developmental Biology, 2025

Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.

Lo Faro V et al.

Cell Reports. Medicine, 2024

38382466 (PubMed )
Supplement: mmc8.xlsx › Sheet1

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

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 2023

36901867 (PubMed )
Supplement: ijms-24-04437-s001.zip › ijms-2163006-supplementary.pdf

Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome.

Hirbo JB et al.

Bmc Genomics, 2023

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

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

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Possible Protective Effect of LOXL1 Variant in the Cohort of Chernobyl Catastrophe Clean-Up Workers.

Žukauskaitė G et al.

Genes, 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

Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations.

Zukerman R et al.

Genes, 2020

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

Prevalence of Pseudoexfoliation Glaucoma Risk-associated Variants Within Lysyl Oxidase-like 1 in an Irish Population.

Eivers SB et al.

Journal of Glaucoma, 2020

Recent advances in risk factors associated with ocular exfoliation syndrome.

Ghaffari Sharaf M et al.

Acta Ophthalmologica, 2020

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

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

Exfoliation Syndrome: A Disease of Autophagy and LOXL1 Proteopathy.

Bernstein AM et al.

Journal of Glaucoma, 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

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

Ethnicity-Based Differences in the Association of LOXL1 Polymorphisms with Pseudoexfoliation/Pseudoexfoliative Glaucoma: A Meta-Analysis.

Founti P et al.

Annals of Human Genetics, 2015

LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients.

Álvarez L et al.

Bmc Medical Genetics, 2015

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Aung T et al.

Nature Genetics, 2015

Evaluation of genetic polymorphisms in clusterin and tumor necrosis factor-alpha genes in South Indian individuals with pseudoexfoliation syndrome.

Dubey SK et al.

Current Eye Research, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AO-A03R-01A.domain

Lysyl oxidase-like 1 gene in the reversal of promoter risk allele in pseudoexfoliation syndrome.

Dubey SK et al.

Jama Ophthalmology, 2014

Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.

Nakano M et al.

Scientific Reports, 2014

1–50 of 111 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."