| Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria. | Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria.
Bernini A, Spiga O, Santucci A. | 09/12/2023 |
| Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria. | Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.
Abdelkhalek ZS, Mahmoud IG, Omair H, Abdulhay M, Elmonem MA., Free PMC Article | 09/7/2023 |
| A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. | A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria.
Tao L, Deng C, Ma M, Zhang Y, Duan J, Li Y, Fang L, Zhou Y, He X, Wang Y, Wang M, Li L. | 06/25/2022 |
| Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase. | Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.
Sen Gupta PS, Islam RNU, Banerjee S, Nayek A, Rana MK, Bandyopadhyay AK. | 07/24/2021 |
| Alkaptonuria in Russia: mutational spectrum and novel variants. | Alkaptonuria in Russia: mutational spectrum and novel variants.
Bychkov I, Kamenets E, Kurkina M, Rychkov G, Ilyushkina A, Filatova A, Guseva D, Baydakova G, Nekrasov A, Cheblokov A, Skoblov M, Zakharova E. | 07/10/2021 |
| Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India. | Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.
Danda S, Mohan S, Devaraj P, Dutta AK, Nampoothiri S, Yesodharan D, Phadke SR, Jalan AB, Thangaraj K, Verma IC, Danda D, Jebaraj I. | 06/19/2021 |
| Presentation of 14 alkaptonuria patients from Turkey. | Presentation of 14 alkaptonuria patients from Turkey.
Akbaba AI, Ozgül RK, Dursun A. | 11/21/2020 |
| Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU. | Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A., Free PMC Article | 06/13/2020 |
| Twelve novel HGD gene variants have been identified in 99 alkaptonuria patients affecting the bones. | Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A., Free PMC Article | 09/24/2016 |
| A novel alkaptonuria mutation, c.87 + 1G > A, shows a significant founder effect and high prevalence in a nomadic Indian population. | Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence.
Sakthivel S, Zatkova A, Nemethova M, Surovy M, Kadasi L, Saravanan MP. | 12/20/2014 |
| study described two novel HGD mutations in a Chinese alkaptonuria family, the splicing mutation of IVS7 1G>C, a donor splice site of exon 7, and a missense mutation of F329C in exon 12 | First report of HGD mutations in a Chinese with alkaptonuria.
Yang YJ, Guo JH, Chen WJ, Zhao R, Tang JS, Meng XH, Zhao L, Tu M, He XY, Wu LQ, Zhu YM. | 05/4/2013 |
| Report mutations of the HGD gene in Jordanian alkaptonuria patients. | Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
Al-sbou M. | 12/8/2012 |
| The observed increase of HGD expression in Alkaptonuria cells is probably due to a compensatory mechanism to overcome the almost null catalytic activity of the deficient enzyme | Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.
Laschi M, Tinti L, Braconi D, Millucci L, Ghezzi L, Amato L, Selvi E, Spreafico A, Bernardini G, Santucci A., Free PMC Article | 07/28/2012 |
| An update on molecular genetics of Alkaptonuria (AKU).(review) | An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A. | 03/31/2012 |
| Familiar ochronotic arthropathy is caused by a gene mutation of the homogentisic acid 1,2-dioxygenase (HGD) gene traced three hundred years in a Hungarian family. | Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years.
Tóth K, Kiss-Láaszló Z, Lénárt E, Juhász K, Takács K, Bender T, Szabó J. | 10/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. | 04/7/2010 |
| A comprehensive mutation analysis of 93 patients enrolled in this study, as well as an extensive update of all previously published HGD mutations associated with alkaptonuria, is reported. | Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA., Free PMC Article | 02/8/2010 |
| A single nucleotide deletion located in exon 3 resulted in a frameshift mutation in HGD gene in family with alkaptonuria. | R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.
Abdulrazzaq YM, Ibrahim A, Al-Khayat AI, Nagelkerke N, Ali BR. | 01/21/2010 |
| Turkish mutation shares an homogentisate 1,2-dioxygenase haplotype with the mutation found in Finland, Slovakia and India, suggesting that R58fs is an old alkaptonuria mutation that probably originated in central Asia | 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, Goicoechea de Jorge E, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yuksel-Apak M, Rodriguez de Córdoba S, Wollnik B. | 01/21/2010 |
| Four different mutations of the HGD gene were found in alkaptonuria and ochronotic arthropathy diagnoses. | Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Ladjouze-Rezig A, Rodriguez de Cordoba S, Aquaron R. | 01/21/2010 |