NEWS

Genotypic phenotype prediction

New search tool uses algorithms developed by the PKU Research Group and calculates APV (allelic phenotype value).

>> Visit BIOPKUdb section <<

NEW PUBLICATIONS

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 PUBLICATIONS

Hillert 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

Zastrow D. B., Baudet H., Shen W., Thomas A., Si Y., Weaver M. A., Lager A. M., Liu J., Mangels R., Dwight S. S., Wright M. W., Dobrowolski S. F., Eilbeck K., Enns G. M., Feigenbaum A., Lichter-Konecki U., Lyon E., Pasquali M., Watson M., Blau N., Steiner R. D., Craigen W. J., Mao R., ClinGen Inborn Errors of Metabolism Working Group, Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat 39 (2018) 1569-1580.

https://www.ncbi.nlm.nih.gov/pubmed/30311390

Garbade S. F., Shen N., Himmelreich N., Haas D., Trefz F. K., Hoffmann G. F., Burgard P., Blau N., Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. Genet Med (2018) DOI: 10.1038/s41436-018-0081-x.

https://www.ncbi.nlm.nih.gov/pubmed/29997390

FREQUENTLY ACCESSED WEBSITES

E.S.PKU

WEBSITE MANAGER

Nenad Blau
view personal profile