Databases
General Information
Active Databases: all
About BioPKU.org
This website hosts databases of Pediatric Neurotransmitter Disorders (PND), including the locus-specific database of PAH variants and BIOPKU genotypes database.
|
|
NEWSGenotypic phenotype predictionNew search tool uses algorithms developed by the PKU Research Group and calculates APV (allelic phenotype value). >> Visit BIOPKUdb section <<
NEW PUBLICATIONSHimmelreich N., Ramon-Maiques S., Navarrete R., Castejon-Fernandez N., Garbade S. F., Martinez A., Desviat L. R., Perez B., Blau N., Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape. Mol Genet Metab 142 (2024) 108514. https://www.ncbi.nlm.nih.gov/pubmed/38905920 Balasar O., Kadioglu Yilmaz B., Basdemirci M., Kocak Eker H., Eser Cavdartepe B., Simsek L., Tuncez E., Duymus F., Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from Turkey. Biochem Genet (2024). https://www.ncbi.nlm.nih.gov/pubmed/39039323 Alavanda C., Ceylan E. I., Kilavuz S., Ciki K., Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Turkiye. J Pediatr Endocrinol Metab DOI: 10.1515/jpem-2024-0091 (2024). https://www.ncbi.nlm.nih.gov/pubmed/38706300 Tebieva I. S., Mishakova P. V., Gabisova Y. V., Khokhova A. V., Kaloeva T. G., Marakhonov A. V., Shchagina O. A., Polyakov A. V., Ginter E. K., Kutsev S. I., Zinchenko R. A., Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. Int J Mol Sci 25 (2024). https://www.ncbi.nlm.nih.gov/pubmed/38731816 Martinez-Pizarro A., Alvarez M., Dembic M., Lindegaard C. A., Castro M., Richard E., Andresen B. S., Desviat L. R., Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria. Nucleic Acid Ther (2024). https://www.ncbi.nlm.nih.gov/pubmed/38591802 Martinez-Pizarro A., Pico S., Lopez-Marquez A., Rodriguez-Lopez C., Montalvo E., Alvarez M., Castro M., Ramon-Maiques S., Perez B., Lucas J. J., Richard E., Desviat L. R., PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice. Hum Mol Genet (2024). https://www.ncbi.nlm.nih.gov/pubmed/38520741 Khaghani F., Eshraghi P., Hamzehloei T., Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations. Clin Case Rep 12 (2024) e8598. https://www.ncbi.nlm.nih.gov/pubmed/38481932 Pang Y. H., Gao X. Y., Yuan Z. Y., Huang H., Wang Z. Q., Peng L., Li Y. Q., Liu J., Liu D., Chen G. R., In vitro expression and functional analyses of the mutants p.R243Q, p.R241C and p.Y356X of the human phenylalanine hydroxylase. Zhongguo Dang Dai Er Ke Za Zhi 26 (2024) 188-193. https://www.ncbi.nlm.nih.gov/pubmed/38436318 Zhang C., Zhang P., Yan Y., Zhou B., Wang Y., Tian X., Hao S., Ma P., Zheng L., Zhang Q., Hui L., Wang Y., Cao Z., Ma X., The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China. Hum Genomics 17 (2023) 36. https://www.ncbi.nlm.nih.gov/pubmed/37098607 Yu X., Liu F., Wei B., Li M., Lu R., Pan L., Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City. Discov Med 35 (2023) 533-538. https://www.ncbi.nlm.nih.gov/pubmed/37553307 Fang Y., Gao J., Guo Y., Li X., Yuan E., Yuan E., Song L., Shi Q., Yu H., Zhao D., Zhang L., Allelic phenotype prediction of phenylketonuria based on the machine learning method. Hum Genomics 17 (2023) 34. https://www.ncbi.nlm.nih.gov/pubmed/37004080 Ajami N., Soleimani A., Jafarzadeh-Esfehani R., Hasanpour M., Rashid Shomali R., Abbaszadegan M. R., Mutational landscape of phenylketonuria in Iran. J Cell Mol Med DOI: 10.1111/jcmm.17865 (2023). https://www.ncbi.nlm.nih.gov/pubmed/37525467 Gao J, Li X, Guo Y, Yu H, Song L, Fang Y, Yuan E, Shi Q, Zhao D, Yuan E, Zhang L. Identification of phenylketonuria patient genotypes using single-gene full-length sequencing. Hum Genomics 16,2022: 23. https://www.ncbi.nlm.nih.gov/pubmed/35869558 Khaghani F, Eshraghi P, Hamzehloie T. Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes. Eur J Med Genet,2022: 104536. https://www.ncbi.nlm.nih.gov/pubmed/35690318 Cinar M, Kilic Yildirim G, Kocagil S, Cilingir O. Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey. J Pediatr Endocrinol Metab,2022. https://www.ncbi.nlm.nih.gov/pubmed/35355500
KEY PUBLICATIONSHillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, et al. The genetic landscape and epidemiology of phenylketonuria. Am J Hum Genet. 2020;107:234-50. https://doi.org/10.1016/j.ajhg.2020.06.006
WEBSITE MANAGER Nenad Blau
|