Associated Papers
The role of SIX6 gene in juvenile open-angle glaucoma: a subtle contributor to the mutational landscape.
Yadav M et al.
Japanese Journal of Ophthalmology, 2025
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
Kock KH et al.
Nature Communications, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
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
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Association of SIX1-SIX6 polymorphisms with peripapillary retinal nerve fibre layer thickness in children.
Lu SY et al.
The British Journal of Ophthalmology, 2023
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Sok P et al.
American Journal of Medical Genetics. Part A, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea.
Lee YC et al.
Medicine, 2022
Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.
Guggenheim JA et al.
Human Molecular Genetics, 2022
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Panagiotou ES et al.
Molecular Vision, 2022
Coinheritance of OLFM2 and SIX6 variants in a Chinese family with juvenile-onset primary open-angle glaucoma: A case report.
Yang X et al.
World Journal of Clinical Cases, 2021
Mapping developmental trajectories and subtype diversity of normal and glaucomatous human retinal ganglion cells by single-cell transcriptome analysis.
Teotia P et al.
Stem Cells (dayton, Ohio), 2020
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
Characterizing rare and low-frequency height-associated variants in the Japanese population.
Akiyama M et al.
Nature Communications, 2019
Human retinal ganglion cell axon regeneration by recapitulating developmental mechanisms: effects of recruitment of the mTOR pathway.
Teotia P et al.
Development (cambridge, England), 2019
Association of Polymorphisms at the SIX1-SIX6 Locus With Primary Open-Angle Glaucoma.
Lu SY et al.
Investigative Ophthalmology & Visual Science, 2019
Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese.
Rong SS et al.
Experimental Eye Research, 2019
Identification and genotype phenotype correlation of novel mutations in SIX6 gene in primary open angle glaucoma.
Mohanty K et al.
Ophthalmic Genetics, 2018
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
Vidya NG et al.
Ophthalmic Genetics, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Pluripotent Stem Cell-Based Approaches to Explore and Treat Optic Neuropathies.
Rabesandratana O et al.
Frontiers in Neuroscience, 2018
Modeling Glaucoma: Retinal Ganglion Cells Generated from Induced Pluripotent Stem Cells of Patients with SIX6 Risk Allele Show Developmental Abnormalities.
Teotia P et al.
Stem Cells (dayton, Ohio), 2017
Major review: Molecular genetics of primary open-angle glaucoma.
Liu Y et al.
Experimental Eye Research, 2017
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
Grassmann F et al.
Genome Medicine, 2017
An Updated Review on the Genetics of Primary Open Angle Glaucoma.
Abu-Amero K et al.
International Journal of Molecular Sciences, 2015
P16INK4a Upregulation Mediated by SIX6 Defines Retinal Ganglion Cell Pathogenesis in Glaucoma.
Skowronska-Krawczyk D et al.
Molecular Cell, 2015
Genetic Variants Associated With Different Risks for High Tension Glaucoma and Normal Tension Glaucoma in a Chinese Population.
Chen Y et al.
Investigative Ophthalmology & Visual Science, 2015
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.
Iglesias AI et al.
Human Molecular Genetics, 2014
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
Zhang X et al.
Molecular Vision, 2009
A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.
Pras E et al.
Journal of Medical Genetics, 2006
Evaluating the association of bone morphogenetic protein 4-V152A and SIX homeobox 6-H141N polymorphisms with congenital cataract and microphthalmia in Western Indian population.
Vidya NG et al.
Journal of Postgraduate Medicine, 0