Results 41 to 50 of about 104,062 (224)

Molecular diagnosis of phenylketonuria: From defective protein to disease-causing gene mutation [PDF]

Journal of Medical Biochemistry, 2009
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine ...
Pavlović Sonja, Stojiljković Maja
doaj  

Drought Stress Mediated Changes in Food Crops: Mechanisms and Remediation Strategies

Advanced Science, EarlyView.
This work presents a multi‐scale framework for flavonoid‐mediated drought tolerance in staple food crops, integrating ROS redox regulation, antioxidant defense, rhizosphere microbial interactions, and sustainable agronomic practices. This interdisciplinary model provides core insights to develop climate‐resilient cropping systems and enhance global ...
Xiaoyi Duan, Litao Wang, Tuuli‐Marjaana Koski, Lizhe An, Thomas Efferth, Yujie Fu   +5 more
wiley   +1 more source

Prevention of maternal phenylketonuria. Dietary management in the preconception period and during pregnancy

Pediatria i Medycyna Rodzinna, 2018
Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births.
Joanna Żółkowska, Kamil Konrad Hozyasz, Maria Nowacka   +2 more
doaj   +1 more source

PKU dietary handbook to accompany PKU guidelines

Orphanet Journal of Rare Diseases, 2020
Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen   +17 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Combining phenotypic, physiological, and multi‐omics studies to provide new insights on the role of 2,4‐epibrassinolide in regulation of seed shattering in Elymus sibiricus L.

Grassland Research, EarlyView.
Abstract Background Seed shattering limits the production of Elymus sibiricus L., and application of exogenous brassinosteroid significantly alleviates plant organ abscission. Methods To explore the potential regulatory network of brassinosteroid on seed shattering, the abscission zone of E. sibiricus cv. Lanyu No.
Huanhuan Lu, Yiyang Wan, Liuban Tang, Yongsen Qiu, Yancui Zhao, Yuying Zheng, Wengang Xie   +6 more
wiley   +1 more source

Serotonin neuromicrobiology: Psychobiotic modulation of the gut–brain axis for mental health

Ibrain, EarlyView.
An overview of Psychobiotics and Tryptophan metabolism: A serotonin‐kynurenine crosstalk shaping the Gut‐Brain axis. IDO1, Indoleamine 2,3‐dioxygenase 1; 5‐HT3, 5‐hydroxytryptamine type 3; IFN‐γ, Interferon‐gamma; TNF‐α, Tumor necrosis factor‐alpha; IL‐1β, Interleukin‐1 beta; IL‐6, Interleukin 6; Trp, Tryptophan; 5‐HT, 5‐hydroxy‐tryptamine; 5‐HTP, 5 ...
Nidhi Mandloi, Aarzoo, Chakkaravarthi Saravanan, Heera Ram, Bhim Pratap Singh   +4 more
wiley   +1 more source

Hyperphenylalaninemia and serotonin deficiency in Dnajc12-deficient mice

Communications Biology
Serotonin exerts numerous neurological and physiological actions in the brain and in the periphery. It is generated by two different tryptophan hydroxylase enzymes, TPH1 and TPH2, in the periphery and in the brain, respectively, which are members of the ...
Yunqing Cao, Oliver Popp, Niccolo Milani, Fatimunnisa Qadri, Ralf Kühn, Philipp Mertins, Michael Bader, Natalia Alenina   +7 more
doaj   +1 more source

The analysis of the phenylalanine hydroxylase gene mutations by sequencing and ARMS techniques in Turkish patients

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2016
Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed. Material and Methods:
Umit Luleyap, Percin Pazarci, Gamze Comertpay, Halise Neslihan Onenli, Ayfer Pazarbasi, Davut Alptekin, Halil Kasap, Ursula Froster   +7 more
doaj   +1 more source