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Items: 1 to 20 of 66

1.
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene
Inna S. Tebieva, Polina V. Mishakova, Yulia V. Gabisova, Alana V. Khokhova, Tamara G. Kaloeva, Andrey V. Marakhonov, Olga A. Shchagina, Alexander V. Polyakov, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Int J Mol Sci. 2024 May; 25(9): 4598. Published online 2024 Apr 23. doi: 10.3390/ijms25094598
PMCID:
PMC11083185
AbstractArticlePDF–249K
2.
人苯丙氨酸羟化酶突变体p.R243Q、p.R241C和p.Y356X的体外表达及功能研究
庞 永红, 高 翔羽, 袁 振亚, 黄 辉, 王 增芹, 彭 磊, 李 逸群, 刘 杰, 刘 冬, 陈 桂荣
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Feb 15; 26(2): 188–193. Chinese. doi: 10.7499/j.issn.1008-8830.2309035
PMCID:
PMC10921879
AbstractArticlePDF–746K
3.
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma
Orphanet J Rare Dis. 2023; 18: 128. Published online 2023 May 26. doi: 10.1186/s13023-023-02742-1
PMCID:
PMC10214626
AbstractArticlePDF–1.3M
4.
The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China
Chuan Zhang, Pei Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma
Hum Genomics. 2023; 17: 36. Published online 2023 Apr 25. doi: 10.1186/s40246-023-00475-7
PMCID:
PMC10127316
AbstractArticlePDF–755K
5.
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China
Jinfu Zhou, Yinglin Zeng, Xiaolong Qiu, Qingying Lin, Weifeng Chen, Jinying Luo, Liangpu Xu
Mol Biol Rep. 2022; 49(11): 10409–10419. Published online 2022 Sep 14. doi: 10.1007/s11033-022-07579-8
PMCID:
PMC9618490
AbstractArticlePDF–629K
6.
苯丙氨酸羟化酶基因 c.158G>A(p.Arg53His)突变患儿随访及突变位点功能评估
Jie WANG, Bo ZHU, Lichun ZHANG, Yitong ZHAO, Xiaohua WANG, Yueqi JIA
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug; 50(4): 444–453. Chinese. doi: 10.3724/zdxbyxb-2021-0256
PMCID:
PMC8714477
AbstractArticlePDF–5.2M
7.
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Isabel Ibarra-González, Ariadna González-del Angel, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Leticia Belmont-Martínez, Cynthia Fernández-Lainez
Genes (Basel) 2021 Nov; 12(11): 1676. Published online 2021 Oct 23. doi: 10.3390/genes12111676
PMCID:
PMC8620669
AbstractArticlePDF–2.3M
8.
Systematic Modification and Evaluation of Enzyme-Loaded Chitosan Nanoparticles
Paulo R. Lino, João Leandro, Lara Figueiredo, Mariana P. Amaro, Lídia M. D. Gonçalves, Paula Leandro, António J. Almeida
Int J Mol Sci. 2021 Aug; 22(15): 7987. Published online 2021 Jul 26. doi: 10.3390/ijms22157987
PMCID:
PMC8348744
AbstractArticlePDF–6.2M
9.
IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO
Roseli Divino Costa, Bianca Borsatto Galera, Bianca Costa Rezende, Amanda Cristina Venâncio, Marcial Francis Galera
Rev Paul Pediatr. 2020; 38: e2018351. Published online 2020 Feb 14. doi: 10.1590/1984-0462/2020/38/2018351
PMCID:
PMC7025444
AbstractArticlePDF–432K
10.
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study
Abderrahim Oussalah, Elise Jeannesson-Thivisol, Céline Chéry, Pascal Perrin, Pierre Rouyer, Thomas Josse, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loic De Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Rosa-Maria Rodriguez-Guéant, François Feillet, Jean-Louis Guéant, Fares Namour
EBioMedicine. 2020 Jan; 51: 102623. Published online 2020 Jan 7. doi: 10.1016/j.ebiom.2019.102623
PMCID:
PMC7000351
AbstractArticlePDF–4.8M
11.
Rapid detection of PAH gene mutations in Chinese people
Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai, Ling-Li Wang
BMC Med Genet. 2019; 20: 135. Published online 2019 Aug 5. doi: 10.1186/s12881-019-0860-5
PMCID:
PMC6683507
AbstractArticlePDF–1.2M
12.
Simulations of the regulatory ACT domain of human phenylalanine hydroxylase (PAH) unveil its mechanism of phenylalanine binding
Yunhui Ge, Elias Borne, Shannon Stewart, Michael R. Hansen, Emilia C. Arturo, Eileen K. Jaffe, Vincent A. Voelz
J Biol Chem. 2018 Dec 21; 293(51): 19532–19543. Published online 2018 Oct 4. doi: 10.1074/jbc.RA118.004909
PMCID:
PMC6314134
AbstractArticlePDF–2.9M
13.
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
Ting Chen, Weize Xu, Dingwen Wu, Jiamin Han, Ling Zhu, Fan Tong, Rulai Yang, Zhengyan Zhao, Pingping Jiang, Qiang Shu
Sci Rep. 2018; 8: 17137. Published online 2018 Nov 20. doi: 10.1038/s41598-018-35373-9
PMCID:
PMC6244417
AbstractArticlePDF–1.2M
14.
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China
Nana Li, Chunhua He, Jing Li, Jing Tao, Zhen Liu, Chunyan Zhang, Yuan Yuan, Hui Jiang, Jun Zhu, Ying Deng, Yixiong Guo, Qintong Li, Ping Yu, Yanping Wang
Sci Rep. 2018; 8: 11251. Published online 2018 Jul 26. doi: 10.1038/s41598-018-29640-y
PMCID:
PMC6062512
AbstractArticlePDF–1.0M
15.
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site
Ainhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, Brage S. Andresen, Lourdes R. Desviat
PLoS Genet. 2018 Apr; 14(4): e1007360. Published online 2018 Apr 23. doi: 10.1371/journal.pgen.1007360
PMCID:
PMC5933811
AbstractArticlePDF–4.0M
16.
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China
Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong
BMC Med Genet. 2017; 18: 108. Published online 2017 Oct 5. doi: 10.1186/s12881-017-0467-7
Correction in:
BMC Med Genet. 2018; 19: 6.
PMCID:
PMC5629770
AbstractArticlePDF–602K
17.
Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain
Dipali Patel, Jolanta Kopec, Fiona Fitzpatrick, Thomas J. McCorvie, Wyatt W. Yue
Sci Rep. 2016; 6: 23748. Published online 2016 Apr 6. doi: 10.1038/srep23748
PMCID:
PMC4822156
AbstractArticlePDF–1.5M
18.
Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population
Morteza Bagheri, Isa Abdi Rad, Nima Hosseini Jazani, Rasoul Zarrin, Ahad Ghazavi
Iran Biomed J. 2015 Jul; 19(3): 183–187. doi: 10.7508/ibj.2015.03.009
PMCID:
PMC4571015
AbstractArticlePDF–237K
19.
Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults
Toshiya Teraishi, Daimei Sasayama, Hiroaki Hori, Noriko Yamamoto, Takashi Fujii, Junko Matsuo, Anna Nagashima, Yukiko Kinoshita, Kotaro Hattori, Miho Ota, Sayaka Fujii, Hiroshi Kunugi
Behav Brain Funct. 2013; 9: 30. Published online 2013 Jul 30. doi: 10.1186/1744-9081-9-30
PMCID:
PMC3733818
AbstractArticlePDF–392K
20.
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples
Michael E. Talkowski, Lora McClain, Trina Allen, L. DiAnne Bradford, Monica Calkins, Neil Edwards, Lyudmila Georgieva, Rodney Go, Ruben Gur, Raquel Gur, George Kirov, Kodavali Chowdari, Joseph Kwentus, Paul Lyons, Hader Mansour, Joseph McEvoy, Michael C. O’ Donovan, Judith O’Jile, Michael J. Owen, Alberto Santos, Robert Savage, Draga Toncheva, Gerard Vockley, Joel Wood, Bernie Devlin, Vishwajit L. Nimgaonkar
Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2010 Jun 5.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5; 150B(4): 560–569. doi: 10.1002/ajmg.b.30862
PMCID:
PMC2738981
AbstractArticlePDF–385K

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