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Select item 109218791.

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

Article PDF–746K

Select item 102146262.

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

Article PDF–1.3M

Select item 101273163.

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

Article PDF–755K

Select item 96184904.

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

Article PDF–629K

Select item 87144775.

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

Article PDF–5.2M

Select item 86206696.

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

Article PDF–2.3M

Select item 83487447.

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

Article PDF–6.2M

Select item 70254448.

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

Article PDF–432K

Select item 70003519.

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

Article PDF–4.8M

Select item 668350710.

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

Article PDF–1.2M

Select item 631413411.

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

Article PDF–2.9M

Select item 624441712.

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

Article PDF–1.2M

Select item 606251213.

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

Article PDF–1.0M

Select item 593381114.

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

Article PDF–4.0M

Select item 562977015.

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

Article PDF–602K

Select item 482215616.

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

Article PDF–1.5M

Select item 457101517.

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

Article PDF–237K

Select item 373381818.

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

Article PDF–392K

Select item 273898119.

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

Article PDF–385K

Select item 267936220.

Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria

Yong-Wha Lee, Dong Hwan Lee, Nam-Doo Kim, Seung-Tae Lee, Jee Young Ahn, Tae-Youn Choi, You Kyoung Lee, Sun-Hee Kim, Jong-Won Kim, Chang-Seok Ki

Exp Mol Med. 2008 Oct 31; 40(5): 533–540. Published online 2008 Oct 31. doi: 10.3858/emm.2008.40.5.533

PMCID:: PMC2679362

Article PDF–1.7M

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