Associated Papers
Galactose mutarotase deficiency as the galactosemia type IV.
Wada Y et al.
Journal of Human Genetics, 2025
Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
Zafar A et al.
International Journal of Molecular Sciences, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Through the Cat-Map Gateway: A Brief History of Cataract Genetics.
Shiels A
Genes, 2024
Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.
Akcan MB et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.
Ozler O et al.
Clinical Pediatrics, 2023
Association of Age-Related Cataract Risk with High Polygenetic Risk Scores Involved in Galactose-Related Metabolism and Dietary Interactions.
Jee D et al.
Lifestyle Genomics, 2022
Galactosemia: Towards Pharmacological Chaperones.
Banford S et al.
Journal of Personalized Medicine, 2021
Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo ME et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A et al.
Annual Review of Vision Science, 2019
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
P S et al.
Journal of Cellular Biochemistry, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.
Ma X et al.
Scientific Reports, 2017
Mutations and mechanisms in congenital and age-related cataracts.
Shiels A et al.
Experimental Eye Research, 2017
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
Molecular Genetics of Cataract.
Shiels A et al.
Progress in Molecular Biology and Translational Science, 2015
Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.
Singh R et al.
Current Eye Research, 2012
Clinical and experimental advances in congenital and paediatric cataracts.
Churchill A et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
Hennermann JB et al.
Journal of Inherited Metabolic Disease, 2011
Association between gap junction protein-alpha 8 polymorphisms and age-related cataract.
Liu Y et al.
Molecular Biology Reports, 2011
The EPHA2 gene is associated with cataracts linked to chromosome 1p.
Shiels A et al.
Molecular Vision, 2008
Inherited eye disease: cause and late effect.
Manson FD et al.
Trends in Molecular Medicine, 2005
Molecular structure of human galactokinase: implications for type II galactosemia.
Thoden JB et al.
The Journal of Biological Chemistry, 2005
Galactokinase: structure, function and role in type II galactosemia.
Holden HM et al.
Cellular and Molecular Life Sciences : Cmls, 2004
Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
Hartley A et al.
Journal of Molecular Biology, 2004
Molecular structure of galactokinase.
Thoden JB et al.
The Journal of Biological Chemistry, 2003
Functional analysis of disease-causing mutations in human galactokinase.
Timson DJ et al.
European Journal of Biochemistry, 2003
Molecular genetics of cataract.
Hejtmancik JF et al.
Developments in Ophthalmology, 2003
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
Okano Y et al.
American Journal of Human Genetics, 2001