Associated Papers
A robust bacterial high-throughput screening assay to identify pharmacological chaperones targeting human homogentisate 1,2-dioxygenase missense variants in alkaptonuria.
Lequeue S et al.
European Journal of Pharmacology, 2025
Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients.
Soltysova A et al.
European Journal of Human Genetics : Ejhg, 2023
A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.
Lequeue S et al.
Scientific Reports, 2022
Analysis of the Phenotype Differences in Siblings with Alkaptonuria.
Zatkova A et al.
Metabolites, 2022
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.
Cohen A et al.
Bone, 2022
A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY et al.
Npj Genomic Medicine, 2021
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
Spiga O et al.
Briefings in Bioinformatics, 2021
Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.
Sen Gupta PS et al.
Journal of Biomolecular Structure & Dynamics, 2021
Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.
Khalil R et al.
Biomed Research International, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB et al.
European Journal of Human Genetics : Ejhg, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria.
Bernini A et al.
Computational Biology and Chemistry, 2017
mCSM-lig: quantifying the effects of mutations on protein-small molecule affinity in genetic disease and emergence of drug resistance.
Pires DE et al.
Scientific Reports, 2016
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M et al.
European Journal of Human Genetics : Ejhg, 2016
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.
Usher JL et al.
Jimd Reports, 2015
Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria.
Magesh R et al.
Thescientificworldjournal, 2012
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
Zatkova A et al.
Jimd Reports, 2012
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T et al.
Human Mutation, 2009
R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.
Abdulrazzaq YM et al.
Annals of Human Genetics, 2009
Three-generational alkaptonuria in a non-consanguineous family.
Oexle K et al.
Journal of Inherited Metabolic Disease, 2008
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Ladjouze-Rezig A et al.
Joint Bone Spine, 2006
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
Uyguner O et al.
Journal of Inherited Metabolic Disease, 2003
Natural history of alkaptonuria.
Phornphutkul C et al.
The New England Journal of Medicine, 2002
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.
Goicoechea De Jorge E et al.
Journal of Medical Genetics, 2002
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Zatková A et al.
American Journal of Human Genetics, 2000
Structural and functional analysis of mutations in alkaptonuria.
Rodríguez JM et al.
Human Molecular Genetics, 2000
Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
Beltrán-Valero de Bernabé D et al.
Journal of Medical Genetics, 1999
Allelic heterogeneity of alkaptonuria in Central Europe.
Müller CR et al.
European Journal of Human Genetics : Ejhg, 1999
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
Felbor U et al.
The British Journal of Ophthalmology, 1999
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
Beltrán-Valero de Bernabé D et al.
American Journal of Human Genetics, 1999
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
Beltrán-Valero de Bernabé D et al.
American Journal of Human Genetics, 1998