Cargando…

Genetic Diversity and Balancing Selection within the Human Phenylalanine Hydroxylase (PAH) Gene Region in Iranian Population

BACKGROUND: Genetic diversity of three polymorphic markers in the phenylalanine hydroxylase (PAH) gene region including PvuII (a), PAHSTR and MspI were investigated. METHODS: Unrelated individuals (n=139) from the Iranian populations were genotyped using primers specific to PAH gene markers includin...

Descripción completa

Detalles Bibliográficos
Autores principales:	Haghighatnia, A, Vallian, S, Mowla, J, Fazeli, Z
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Tehran University of Medical Sciences 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3468980/ https://www.ncbi.nlm.nih.gov/pubmed/23113183

Ejemplares similares

Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian population
por: Moradi, Tahereh, et al.
Publicado: (2015)

Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria
por: Biglari, Alireza, et al.
Publicado: (2015)

Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria
por: Rastegar Moghadam, Mahsa, et al.
Publicado: (2018)

Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults
por: Teraishi, Toshiya, et al.
Publicado: (2013)

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices
por: Yuskiv, Nataliya, et al.
Publicado: (2019)

Phenylalanine Binding Is Linked to Dimerization of the Regulatory Domain of Phenylalanine Hydroxylase
por: Zhang, Shengnan, et al.
Publicado: (2014)

The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase
por: Aubi, Oscar, et al.
Publicado: (2021)

Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones
por: Underhaug, Jarl, et al.
Publicado: (2012)

Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population
por: Bagheri, Morteza, et al.
Publicado: (2015)

Activation of Phenylalanine Hydroxylase by Phenylalanine Does Not Require Binding in the Active Site
por: Roberts, Kenneth M., et al.
Publicado: (2014)

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
por: Singh, Rani H., et al.
Publicado: (2014)

Structural Features of the Regulatory ACT Domain of Phenylalanine Hydroxylase
por: Carluccio, Carla, et al.
Publicado: (2013)

Dynamic Regulation of Phenylalanine Hydroxylase by Simulated Redox Manipulation
por: Fuchs, Julian E., et al.
Publicado: (2012)

Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish
por: Schwoerer, Jessica Scott, et al.
Publicado: (2018)

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China
por: Zhou, Jinfu, et al.
Publicado: (2022)

Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China
por: Zhou, Yong-An, et al.
Publicado: (2012)

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant
por: Ye, Jun, et al.
Publicado: (2015)

Stabilization of tryptophan hydroxylase 2 by l‐phenylalanine‐induced dimerization
por: Tidemand, Kasper D., et al.
Publicado: (2016)

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase
por: Pecimonova, Martina, et al.
Publicado: (2019)

Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency
por: Lotz-Havla, Amelie S., et al.
Publicado: (2021)

Alchemical Design of Pharmacological Chaperones with Higher Affinity for Phenylalanine Hydroxylase
por: Conde-Giménez, María, et al.
Publicado: (2022)

Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice
por: Cacicedo, Maximiliano L., et al.
Publicado: (2022)

Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain
por: Patel, Dipali, et al.
Publicado: (2016)

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
por: Chen, Ting, et al.
Publicado: (2018)

Engineered Escherichia coli platforms for tyrosine-derivative production from phenylalanine using phenylalanine hydroxylase and tetrahydrobiopterin-regeneration system
por: Satoh, Yasuharu, et al.
Publicado: (2023)

PKU mutation p.G46S prevents the stereospecific binding of l‐phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain
por: Leandro, João, et al.
Publicado: (2017)

D5S351 and D5S1414 located at the spinal muscular atrophy critical region represent novel informative markers in the Iranian population
por: Sedghi, Maryam, et al.
Publicado: (2015)

Structural and thermodynamic insight into phenylalanine hydroxylase from the human pathogen Legionella pneumophila()
por: Leiros, Hanna-Kirsti S., et al.
Publicado: (2013)

A Conserved Acidic Residue in Phenylalanine Hydroxylase Contributes to Cofactor Affinity and Catalysis
por: Ronau, Judith A., et al.
Publicado: (2014)

Phenylalanine 4-Hydroxylase Contributes to Endophytic Bacterium Pseudomonas fluorescens’ Melatonin Biosynthesis
por: Jiao, Jian, et al.
Publicado: (2021)

Unravelling the Complex Denaturant and Thermal-Induced Unfolding Equilibria of Human Phenylalanine Hydroxylase
por: Conde-Giménez, María, et al.
Publicado: (2021)

Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants
por: Sarodaya, Neha, et al.
Publicado: (2022)

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
por: Zeng, Baitao, et al.
Publicado: (2023)

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients
por: Zhu, Tianwen, et al.
Publicado: (2017)

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population
por: Vallian Broojeni, Jalal, et al.
Publicado: (2023)

Gut-Microbiome Composition in Response to Phenylketonuria Depends on Dietary Phenylalanine in BTBR Pah(enu2) Mice
por: van der Goot, Els, et al.
Publicado: (2022)

Immunocytochemical identification of phenylalanine hydroxylase and albumin in cultured hepatoma cells and isolated rat hepatocytes
Publicado: (1981)

Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives
por: Lopes, Raquel R., et al.
Publicado: (2021)

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis
por: Foreman, Pamela K., et al.
Publicado: (2021)

The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China
por: Zhang, Chuan, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_ul7j57fjj9uplm1espfaef9k4c