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https://www.readbyqxmd.com/read/28182360/mutation-analysis-in-classical-phenylketonuria-patients-followed-by-detecting-haplotypes-linked-to-some-pah-mutations
#1
Fatemeh Dehghanian, Mohammad Silawi, Seyed M B Tabei
BACKGROUND: Deficiency of phenylalanine hydroxylase (PAH) enzyme and elevation of phenylalanine in body fluids cause phenylketonuria (PKU). The gold standard for confirming PKU and PAH deficiency is detecting causal mutations by direct sequencing of the coding exons and splicing involved sequences of the PAH gene. Furthermore, haplotype analysis could be considered as an auxiliary approach for detecting PKU causative mutations before direct sequencing of the PAH gene by making comparisons between prior detected mutation linked-haplotypes and new PKU case haplotypes with undetermined mutations...
February 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28174686/pku-mutation-p-g46s-prevents-the-stereospecific-binding-of-l-phenylalanine-to-the-dimer-of-human-phenylalanine-hydroxylase-regulatory-domain
#2
João Leandro, Jaakko Saraste, Paula Leandro, Torgeir Flatmark
Mammalian phenylalanine hydroxylase (PAH) has a potential allosteric regulatory binding site for l-phenylalanine (l-Phe), in addition to its catalytic site. This arrangement is supported by a crystal structure of a homodimeric truncated form of the regulatory domain of human PAH (hPAH-RD (1-118/19-118)) [Patel D et al. (2016) Sci Rep doi: 10.1038/srep23748]. In this study, a fusion protein of the domain (MBP-(pepXa)-hPAH-RD (1-120)) was overexpressed and recovered in a metastable and soluble state, which allowed the isolation of a dimeric and a monomeric fusion protein...
February 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/28165881/subtle-visuomotor-deficits-and-reduced-benefit-from-practice-in-early-treated-phenylketonuria
#3
Claudia Caprile, Jaume Campistol, Laura Puigcerver, Alfonso-Pablo Gutiérrez-Mata, Itziar Alonso-Colmenero, Roser Colomé, Jordi Navarra
INTRODUCTION: Phenylketonuria (PKU) is a rare metabolic disease that causes slight-to-severe neurological symptoms. Slow performance has been observed in PKU but the influence of high-order (i.e., not purely motor) deficits and of temporary variations of the phenylalanine (Phe) level on this slowness has not been fully corroborated as yet. Response speed and the effect of motor practice during the performance of a visuomotor coordination task were measured, in a group of patients with early-treated phenylketonuria (ET PKU)...
February 6, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28162992/adherence-to-clinic-recommendations-among-patients-with-phenylketonuria-in-the-united-states
#4
E R Jurecki, S Cederbaum, J Kopesky, K Perry, F Rohr, A Sanchez-Valle, K S Viau, M Y Sheinin, J L Cohen-Pfeffer
OBJECTIVE: Assess current management practices of phenylketonuria (PKU) clinics across the United States (US) based on the key treatment metrics of blood phenylalanine (Phe) concentrations and blood Phe testing frequency, as well as patient adherence to their clinic's management practice recommendations. METHODS: An online survey was conducted with medical professionals from PKU clinics across the US from July to September 2015. Forty-four clinics participated in the survey and account for approximately half of PKU patients currently followed in clinics in the US (Berry et al...
January 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28155723/locexpress-a-web-server-for-efficiently-estimating-expression-of-novel-transcripts
#5
Mei Hou, Feng Tian, Shuai Jiang, Lei Kong, Dechang Yang, Ge Gao
BACKGROUND: The temporal and spatial-specific expression pattern of a transcript in multiple tissues and cell types can indicate key clues about its function. While several gene atlas available online as pre-computed databases for known gene models, it's still challenging to get expression profile for previously uncharacterized (i.e. novel) transcripts efficiently. RESULTS: Here we developed LocExpress, a web server for efficiently estimating expression of novel transcripts across multiple tissues and cell types in human (20 normal tissues/cells types and 14 cell lines) as well as in mouse (24 normal tissues/cell types and nine cell lines)...
December 22, 2016: BMC Genomics
https://www.readbyqxmd.com/read/28132689/biallelic-mutations-in-dnajc12-cause-hyperphenylalaninemia-dystonia-and-intellectual-disability
#6
Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K Trefz, Dina Marek-Yagel, Aurora Martinez, Edward L Huttlin, Joao A Paulo, Riccardo Berutti, Jean-François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval Landau, Limor Ziv-Strasser, May Christine V Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M Strom, Thomas Meitinger, James C Mullikin, Gerard Schwartz, Bruria Ben-Zeev, William A Gahl, J Wade Harper, Nenad Blau, Georg F Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff
Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28132024/mosaichunter-accurate-detection-of-postzygotic-single-nucleotide-mosaicism-through-next-generation-sequencing-of-unpaired-trio-and-paired-samples
#7
August Yue Huang, Zheng Zhang, Adam Yongxin Ye, Yanmei Dou, Linlin Yan, Xiaoxu Yang, Yuehua Zhang, Liping Wei
Genomic mosaicism arising from postzygotic mutations has long been associated with cancer and more recently with non-cancer diseases. It has also been detected in healthy individuals including healthy parents of children affected with genetic disorders, highlighting its critical role in the origin of genetic mutations. However, most existing software for the genome-wide identification of single-nucleotide mosaicisms (SNMs) requires a paired control tissue obtained from the same individual which is often unavailable for non-cancer individuals and sometimes missing in cancer studies...
January 27, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28111827/glycomacropeptide-in-children-with-phenylketonuria-does-its-phenylalanine-content-affect-blood-phenylalanine-control
#8
A Daly, S Evans, S Chahal, S Santra, A MacDonald
BACKGROUND: In phenylketonuria (PKU), there are no data available for children with respect to evaluating casein glycomacropeptide (CGMP) as an alternative to phenylalanine-free protein substitutes [Phe-free L-amino acid (AA)]. CGMP contains a residual amount of phenylalanine, which may alter blood phenylalanine control. METHODS: In a prospective 6-month pilot study, we investigated the effect on blood phenylalanine control of CGMP-amino acid (CGMP-AA) protein substitute in 22 PKU subjects (13 boys, nine girls), median age (range) 11 years (6-16 years)...
January 22, 2017: Journal of Human Nutrition and Dietetics: the Official Journal of the British Dietetic Association
https://www.readbyqxmd.com/read/28080075/cognitive-outcomes-in-early-treated-adults-with-phenylketonuria-pku-a-comprehensive-picture-across-domains
#9
Liana Palermo, Tarekegn Geberhiwot, Anita MacDonald, Ellie Limback, S Kate Hall, Cristina Romani
OBJECTIVE: Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executive functions, but there is a lack of comprehensive assessment across cognitive domains. Moreover, it is important to establish outcomes in early treated adults with PKU (AwPKU) who have better metabolic control than groups previously reported in the literature...
January 12, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28071012/phenylketonuria-is-not-a-risk-factor-for-changes-of-inflammation-status-as-assessed-by-interleukin-6-and-interleukin-8-concentrations
#10
Renata Mozrzymas, Monika Duś-Żuchowska, Łukasz Kałużny, Ewa Wenska-Chyży, Jarosław Walkowiak
BACKGROUND: High oxidative stress and a reduced potential for free radical scavenging in phenylketonuria (PKU) patients, a phenomenon confirmed in a few studies, may lead to systemic chronic inflammation. The aim of this study was to compare the inflammation status, as assessed by interleukin 6 and interleukin 8 concentrations, in patients with PKU and in healthy controls. METHODS: Twenty patients with classical PKU, aged 18-34 years and under dietary control, were enrolled in the study...
April 2016: Acta Scientiarum Polonorum. Technologia Alimentaria
https://www.readbyqxmd.com/read/28065896/ge-mini-a-mobile-app-for-large-scale-gene-expression-visualization
#11
Zefang Tang, Chenwei Li, Karena Zhang, Mingyu Yang, Xueda Hu
: The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) projects produced large-scale RNA sequencing data, which provides an opportunity for performing integrated expression analysis for all genes across tens of thousands of tumor and normal tissue specimens. Rapid access to and easy visualization of such valuable data could facilitate research in a wide biological area. Here, we present the GE-mini APP for smart phones, a mobile visualization tool for integrated gene expression data based on both TCGA and GTEx...
January 8, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28044061/in-silico-identification-and-in-vivo-validation-of-mir-495-as-a-novel-regulator-of-motivation-for-cocaine-that-targets-multiple-addiction-related-networks-in-the-nucleus-accumbens
#12
R M Bastle, R J Oliver, A S Gardiner, N S Pentkowski, F Bolognani, A M Allan, T Chaudhury, M St Peter, N Galles, C Smith, J L Neisewander, N I Perrone-Bizzozero
MicroRNAs (miRNAs) are important post-transcriptional regulators of gene expression and are implicated in the etiology of several neuropsychiatric disorders, including substance use disorders (SUDs). Using in silico genome-wide sequence analyses, we identified miR-495 as a miRNA whose predicted targets are significantly enriched in the Knowledgebase for Addiction Related Genes (ARG) database (KARG; http://karg.cbi.pku.edu.cn). This small non-coding RNA is also highly expressed within the nucleus accumbens (NAc), a pivotal brain region underlying reward and motivation...
January 3, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/27987180/construction-of-the-leaf-senescence-database-and-functional-assessment-of-senescence-associated-genes
#13
Zhonghai Li, Yi Zhao, Xiaochuan Liu, Zhiqiang Jiang, Jinying Peng, Jinpu Jin, Hongwei Guo, Jingchu Luo
Leaf senescence is the last phase of plant development and a highly coordinated process regulated by a large number of senescence-associated genes (SAGs). By broad literature survey, we constructed a leaf senescence database (LSD) in 2011 and updated it to Version 2.0 in 2014 ( http://www.eplantsenescence.org/ and http://psd.cbi.pku.edu.cn/ ) which contains a total of 5357 genes and 324 mutants from 44 species. These SAGs were retrieved based on genetic, genomic, proteomic, physiological, or other experimental evidence and were classified into different categories according to their functions in leaf senescence or morphological phenotype of mutants...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27957302/challenges-of-implementation-of-the-national-phenylketonuria-screening-program-in-iran-a-qualitative-study
#14
Alireza Heidari, Mohammad Arab, Koorosh Etemad, Behzad Damari, Mohammad Javad Kabir
INTRODUCTION: Newborn screening (NBS) is a public health measure aimed at identification of early cases, management of afflicted infants, and making efforts to reduce the morbidity and mortality among newborns. All countries may face challenges in implementation of screening programs. The present study aimed to determine the challenges of implementation of the National Phenylketonuria (PKU) Screening Program in Iran. METHODS: In this qualitative study, 38 health policymakers, managers, and PKU experts in Iran were purposively selected as the respondents in 2015...
October 2016: Electronic Physician
https://www.readbyqxmd.com/read/27956861/biochemical-evaluation-of-phenylalanine-ammonia-lyase-from-endemic-plant-cyathobasis-fruticulosa-bunge-aellen-for-the-dietary-treatment-of-phenylketonuria
#15
Seda Şirin, Selcen Babaoğlu Aydaş, Belma Aslım
Enzyme substitution therapy with the phenylalanine ammonia lyase (PAL) is a new approach to the treatment of patients with phenylketonuria (PKU). This enzyme is responsible for the conversion of phenylalanine to trans-cinnamic acid. We assessed the PAL enzyme of the endemic plant Cyathobasis fruticulosa (Bunge) Aellen. for its possible role in the dietary treatment of PKU. The enzyme was found to have a high activity of (64.9±0.1) U/mg, with the optimum pH, temperature and buffer (Tris-HCl and l-phenylalanine) concentration levels of pH=8...
September 2016: Food Technology and Biotechnology
https://www.readbyqxmd.com/read/27924042/planttfdb-4-0-toward-a-central-hub-for-transcription-factors-and-regulatory-interactions-in-plants
#16
Jinpu Jin, Feng Tian, De-Chang Yang, Yu-Qi Meng, Lei Kong, Jingchu Luo, Ge Gao
With the goal of providing a comprehensive, high-quality resource for both plant transcription factors (TFs) and their regulatory interactions with target genes, we upgraded plant TF database PlantTFDB to version 4.0 (http://planttfdb.cbi.pku.edu.cn/). In the new version, we identified 320 370 TFs from 165 species, presenting a more comprehensive genomic TF repertoires of green plants. Besides updating the pre-existing abundant functional and evolutionary annotation for identified TFs, we generated three new types of annotation which provide more directly clues to investigate functional mechanisms underlying: (i) a set of high-quality, non-redundant TF binding motifs derived from experiments; (ii) multiple types of regulatory elements identified from high-throughput sequencing data; (iii) regulatory interactions curated from literature and inferred by combining TF binding motifs and regulatory elements...
January 4, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/27905536/post-translational-incorporation-of-l-phenylalanine-into-the-c-terminus-of-%C3%AE-tubulin-as-a-possible-cause-of-neuronal-dysfunction
#17
Yanina Ditamo, Yanela M Dentesano, Silvia A Purro, Carlos A Arce, C Gastón Bisig
α-Tubulin C-terminus undergoes post-translational, cyclic tyrosination/detyrosination, and L-Phenylalanine (Phe) can be incorporated in place of tyrosine. Using cultured mouse brain-derived cells and an antibody specific to Phe-tubulin, we showed that: (i) Phe incorporation into tubulin is reversible; (ii) such incorporation is not due to de novo synthesis; (iii) the proportion of modified tubulin is significant; (iv) Phe incorporation reduces cell proliferation without affecting cell viability; (v) the rate of neurite retraction declines as level of C-terminal Phe incorporation increases; (vi) this inhibitory effect of Phe on neurite retraction is blocked by the co-presence of tyrosine; (vii) microtubule dynamics is reduced when Phe-tubulin level in cells is high as a result of exogenous Phe addition and returns to normal values when Phe is removed; moreover, microtubule dynamics is also reduced when Phe-tubulin is expressed (plasmid transfection)...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27898272/partial-hydatidiform-mole-in-a-phenylketonuria-patient-treated-with-sapropterin-dihydrochloride
#18
Yilmaz Yildiz, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Serap Sivri
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome. Sapropterin dihydrochloride (SD), an alternative or adjunct to dietary therapy in patients with tetrahydrobiopterin (BH4)-responsive PKU, has recently been used in several cases to treat PKU during pregnancy with satisfactory results...
January 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27878409/analysis-of-the-functional-muscle-bone-unit-of-the-forearm-in-patients-with-phenylketonuria-by-peripheral-quantitative-computed-tomography
#19
Daniela Choukair, Carolin Kneppo, Reinhard Feneberg, Eckhard Schönau, Martin Lindner, Stefan Kölker, Georg F Hoffmann, Burkhard Tönshoff
Bone disease in patients with phenylketonuria (PKU) is incompletely characterized. We therefore analyzed, in a cross-sectional study radius macroscopic bone architecture and forearm muscle size by peripheral quantitative computed tomography (pQCT) and muscle strength by hand dynamometry in a large cohort (n = 56) of adolescent and adult patients with PKU aged 26.0 ± 8.9 (range, 11.8-41.5) years. Data were compared with a reference population (n = 700) from the DONALD study using identical methodology...
November 22, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27852242/annolnc-a-web-server-for-systematically-annotating-novel-human-lncrnas
#20
Mei Hou, Xing Tang, Feng Tian, Fangyuan Shi, Fenglin Liu, Ge Gao
BACKGROUND: Long noncoding RNAs (lncRNAs) have been shown to play essential roles in almost every important biological process through multiple mechanisms. Although the repertoire of human lncRNAs has rapidly expanded, their biological function and regulation remain largely elusive, calling for a systematic and integrative annotation tool. RESULTS: Here we present AnnoLnc ( http://annolnc.cbi.pku.edu.cn ), a one-stop portal for systematically annotating novel human lncRNAs...
November 16, 2016: BMC Genomics
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