Počet záznamov: 1
Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness
Názov Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness Autor Polák Emil Spoluautori Ficek Andrej Ďalší autori Radvánszky Ján 1982- (Autor) SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Šoltýsová Andrea 1980- (Autor) SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Urge O. (Autor) Cmelová Eleonora (Autor) Kantarská Dana (Autor) Kádaši Ľudevít 1952- (Autor) SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Zdroj.dok. Gene. Vol. 526, no. 2, (2013), p. 347-355 Jazyk dok. eng - angličtina Poznámky ITMS 26240220058, ITMS 26240220071, UK grant no. 313/2009 Druh dok. rozpis článkov z periodík (rbx) Ohlasy BLAU, Nenad - SHEN, Nan - CARDUCCI, Carla. Molecular genetics and diagnosis of phenylketonuria: state of the art. In EXPERT REVIEW OF MOLECULAR DIAGNOSTICS. ISSN 1473-7159, 2014, vol. 14, no. 6, pp. 655. CHEN, Ya-fen - JIA, Hai-tao - CHEN, Zhong-hai - SONG, Jia-ping - LIANG, Yu - PEI, Jing-jing - WU, Zhi-jun - WANG, Jing - QIU, Ya-li - LIU, Gang - SUN, Dong-mei - JIANG, Xin-ye. Mutational spectrum of phenylketonuria in Jiangsu province. In EUROPEAN JOURNAL OF PEDIATRICS. ISSN 0340-6199, 2015, vol. 174, no. 10, pp. 1333. LI, Nana - JIA, Haitao - LIU, Zhen - TAO, Jing - CHEN, Song - LI, Xiaohong - DENG, Ying - JIN, Xi - SONG, Jiaping - ZHANG, Liangtao - LIANG, Yu - WANG, Wei - ZHU, Jun. Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing. In SCIENTIFIC REPORTS. ISSN 2045-2322, 2015, vol. 5, no., pp. VELA-AMIEVA, M. - ABREU-GONZALEZ, M. - GONZALEZ-DEL ANGEL, A. - IBARRA-GONZALEZ, I. - FERNANDEZ-LAINEZ, C. - BARRIENTOS-RIOS, R. - MONROY-SANTOYO, S. - GUILLEN-LOPEZ, S. - ALCANTARA-ORTIGOZA, M. A. Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect. In CLINICAL GENETICS. ISSN 0009-9163, 2015, vol. 88, no. 1, pp. 62. ALDAMIZ-ECHEVARRIA, Luis - LLARENA, Marta - BUENO, Maria A. - DALMAU, Jaime - VITORIA, Isidro - FERNANDEZ-MARMIESSE, Ana - ANDRADE, Fernando - BLASCO, Javier - ALCALDE, Carlos - GIL, David - GARCIA, Maria C. - GONZALEZ-LAMUNO, Domingo - RUIZ, Monica - RUIZ, Maria A. - PENA-QUINTANA, Luis - GONZALEZ, David - SANCHEZ-VALVERDE, Felix - DESVIAT, Lourdes R. - PEREZ, Belen - COUCE, Maria L. Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. In JOURNAL OF HUMAN GENETICS. ISSN 1434-5161, 2016, vol. 61, no. 8, pp. 731-744. BLAU, Nenad. Genetics of Phenylketonuria: Then and Now. In HUMAN MUTATION. ISSN 1059-7794, 2016, vol. 37, no. 6, pp. 508-515. GUNDOROVA, P. - STEPANOVA, A. A. - MAKAOV, A. Kh. - ZINCHENKO, R. A. - ABAYKHANOVA, Z. M. - POLYAKOV, A. V. Mutation Spectrum of the PAH Gene in Phenylketonuria Patients in the Karachay-Cherkess Republic (Russia). In RUSSIAN JOURNAL OF GENETICS. ISSN 1022-7954, 2016, vol. 52, no. 12, pp. 1282-1290. SHEN, Nan - HEINTZ, Caroline - THIEL, Christian - OKUN, Juergen G. - HOFFMANN, Georg F. - BLAU, Nenad. Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation. In MOLECULAR GENETICS AND METABOLISM. ISSN 1096-7192, 2016, vol. 117, no. 3, pp. 328-335. KLAASSEN, Kristel - STANKOVIC, Biljana - KOTUR, Nikola - DJORDJEVIC, Maja - ZUKIC, Branka - NIKCEVIC, Gordana - UGRIN, Milena - SPASOVSKI, Vesna - SRZENTIC, Sanja - PAVLOVIC, Sonja - STOJILJKOVIC, Maja. New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro. In JOURNAL OF APPLIED GENETICS. ISSN 1234-1983, 2017, vol. 58, no. 1, pp. 79-85. GUNDOROVA, P. - STEPANOVA, A. A. - BUSHUEVA, T. V. - BELYASHOVA, E. Yu. - ZINCHENKO, R. A. - AMELINA, S. S. - KUTSEV, S. I. - POLYAKOV, A. V. Genotyping of Patients with Phenylketonuria from Different Regions of Russia for Determining BH4 Responsiveness. In RUSSIAN JOURNAL OF GENETICS. ISSN 1022-7954, 2017, vol. 53, no. 6, pp. 712-718. ZHU, Tianwen - YE, Jun - HAN, Lianshu - QIU, Wenjuan - ZHANG, Huiwen - LIANG, Lili - GU, Xuefan. The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients. In SCIENTIFIC REPORTS. ISSN 2045-2322, 2017, vol. 7, no., pp. PAMPUKHA, Volodymyr - NECHYPORENKO, Maryna - LIVSHYTS, Ludmila. Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria. In GENES & DISEASES. ISSN 2352-3042, 2017, vol. 4, no. 2, pp. 108-110. CHOI, Rihwa - LEE, Jeongho - PARK, Hyung Doo - PARK, Jong Eun - KIM, Yong Hyuk - KI, Chang Seok - LEE, Soo Youn - SONG, Junghan - KIM, Jong Won - LEE, Dong Hwan. Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia. In Journal of Pediatric Endocrinology and Metabolism. ISSN 0334018X, 2017-10-26, 30, 11, pp. 1211-1218. LI, Nana - HE, Chunhua - LI, Jing - TAO, Jing - LIU, Zhen - ZHANG, Chunyan - YUAN, Yuan - JIANG, Hui - ZHU, Jun - DENG, Ying - GUO, Yixiong - LI, Qintong - YU, Ping - WANG, Yanping. Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China. In SCIENTIFIC REPORTS. ISSN 2045-2322, 2018, vol. 8, no., pp. VIEIRA NETO, Eduardo - LARANJEIRA, Francisco - QUELHAS, Dulce - RIBEIRO, Isaura - SEABRA, Alexandre - MINEIRO, Nicole - CARVALHO, Lilian D. M. - LACERDA, Lucia - RIBEIRO, Marcia G. Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil. In MOLECULAR GENETICS & GENOMIC MEDICINE. ISSN 2324-9269, 2018, vol. 6, no. 4, pp. 575-591. ZONG, Yanan - LIU, Ning - MA, Shanshan - BAI, Ying - GUAN, Fangxia - KONG, Xiangdong. Three novel variants (p.G1u178Lys, p.Va1245Met, p.Ser250Phe) of the phenylalanine hydroxylase (PAH) gene impair protein expression and function in vitro. In GENE. ISSN 0378-1119, 2018, vol. 668, no., pp. 135-139. ZHANG, Zhan - GAO, Jun-Jun - FENG, Yang - ZHU, Lin-Lin - YAN, Huan - SHI, Xu-Feng - CHANG, Ai-Min - SHI, Ying - WANG, Ping. Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. In SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. ISSN 0036-5513, 2018, vol. 78, no. 3, pp. 211-218. WANG, Zhen-Wen - JIANG, Shi-Wen - ZHOU, Bao-Cheng. PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population. In KAOHSIUNG JOURNAL OF MEDICAL SCIENCES. ISSN 1607-551X, 2018, vol. 34, no. 2, pp. 89-94. YAN, Yousheng - ZHANG, Chuan - JIN, Xiaohua - ZHANG, Qinhua - ZHENG, Lei - FENG, Xuan - HAO, Shengju - GAO, Huafang - MA, Xu. Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants. In METABOLIC BRAIN DISEASE. ISSN 0885-7490, 2019, vol. 34, no. 3, pp. 733-745. GUNDOROVA, Polina - STEPANOVA, Anna A. - KUZNETSOVA, Irina A. - KUTSEV, Sergey I. - POLYAKOV, Aleksander V. Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia. In PLOS ONE. ISSN 1932-6203, 2019, vol. 14, no. 1, pp. YAN, Yousheng - JIN, Xiaohua - WANG, Xing - ZHANG, Chuan - ZHANG, Qinhua - ZHENG, Lei - FENG, Xuan - HAO, Shengju - GAO, Huafang - MA, Xu. Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS. In ACS OMEGA. ISSN 2470-1343, 2020, vol. 5, no. 4, pp. 1805-1812. Dostupné na: https://doi.org/10.1021/acsomega.9b02955. MOJIBI, Nastaran - GHAZANFARI-SARABI, Shabnam - HASHEMI-SOTEH, Seyed Mohammad Bagher. The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review. In JOURNAL OF PEDIATRICS REVIEW. ISSN 2322-4398, 2021, vol. 9, no. 2, pp. 83-95. Dostupné na: https://doi.org/10.32598/jpr.9.2.826.2. OZ, Ozlem - AKBULUT, Emis Deniz - KARADAG, Mujgan Ercan - GONEL, Ataman - KOYUNCU, Ismail. Amino acid metabolism disorders and PAH gene mutations in Southeastern Anatolia Region. In TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI. ISSN 0250-4685, 2021, vol. 46, no. 4, pp. 387-392. Dostupné na: https://doi.org/10.1515/tjb-2020-0338. FISHCHUK, Liliya - ROSSOKHA, Zoia - OLKHOVICH, Natalia - PICHKUR, Nataliia - POPOVA, Olena - MEDVEDIEVA, Nataliia - VERSHYHORA, Viktoriia - DUBITSKA, Olha - SHKURKO, Tetiana - POPOVYCH, Larysa - BONDAR, Olga - MOROZUK, Irina - ONYSHCHENKO, Svitlana - YEVTUSHOK, Lyubov - TSIZH, Oksana - BRYL, Iryna - TUL, Olena - KALYNKA, Svitlana - ZINKINA, Iryna - MATVIIUK, Svitlana - RIABOVA, Yulianna - GOROVENKO, Nataliia. The analysis of using a panel of the most common variants in the PAH gene for the newborn screening in Ukraine. In MOLECULAR GENETICS AND METABOLISM REPORTS, 2022, vol. 32, no., pp. Dostupné na: https://doi.org/10.1016/j.ymgmr.2022.100907. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2013 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1016/j.gene.2013.05.057 
článok
rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2013 2012 2.196 Q3 1.094 Q1
Počet záznamov: 1