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

Himmelreich 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 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

WEBSITE MANAGER

Nenad Blau
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