Results 71 to 80 of about 538,734 (195)

Can Repeated Reductive Genome Evolution Across Archaeplastida Explain Volatility in Traits?

Advanced Genetics, Volume 7, Issue 4, December 2026.
Genome evolution in Archaeplastida is often framed around gene gains and increasing complexity. Yet ancestral reconstructions reveal recurrent genome contraction, with ancestors frequently harboring larger gene repertoires than descendants. Across red algae, land‐plant ancestry, and embryophyte diversification, repeated expansion and reduction cycles ...
Cäcilia F. Kunz, Merve Nida Baştürk, Jan de Vries, Hengchi Chen   +3 more
wiley   +1 more source

Mutational spectrum of phenylalanine hydroxylase deficiency in sicily: Implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

, 1993
Hyperphenylalaninemia due to a deficiency of hepatic phenylalanine hydroxylase (PAH) is the most common inborn error of amino acid metabolism. Clinically, the disorder is highly heterogeneous, spanning from nonphenylketonuria hyperphenylalaninemia to ...
Ceratto N., Guldberg P., Glovannini M., Bosco P., Mollica F., Biasucci G., Indellcato A., Mell C., Henriksen K. F., Riva E., Guttler F., Cluna M., Romano V.   +12 more
core   +1 more source

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

The Turkish Journal of Pediatrics, 2016
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs.
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri   +4 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
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

Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice.

, 2005
Tetrahydrobiopterin (BH4) supplementation in patients with BH4-responsive phenylalanine hydroxylase (PAH) deficiency is an alternative to low-phenylalanine diet.
Blau N, Martínez A, Ding Z, Haavik J, Scavelli R, Thöny B   +5 more
core   +1 more source

Real‐Time Neurochemical Sensing in Zebrafish: Electrochemical and Fluorescent Approaches

Analysis &Sensing, Volume 6, Issue 6, November 2026.
The use of zebrafish has emerged as a powerful approach for real‐time neurochemical measurements. This review highlights recent advances in electrochemical and fluorescent sensing strategies that enable dynamic measurements in live preparations of this complex vertebrate. These complementary approaches provide new insights into neurochemical signaling,
Piyanka Hettiarachchi, Jacob T. Theismann, Michael A. Johnson   +2 more
wiley   +1 more source

Markers of Systemic Metabolic Dysfunction in Vitiligo and Their Potential Role in Disease Pathogenesis: A Narrative Review

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background Vitiligo is a chronic autoimmune disease characterized by the progressive destruction of melanocytes, resulting in depigmented skin macules. While traditionally viewed as a cutaneous disorder driven by a specific CD8+ T cell‐mediated interferon‐γ (IFN‐γ) signature, emerging research suggests that vitiligo may be a systemic condition
Federica Papaccio, Simona Scano, Barbara Bellei   +2 more
wiley   +1 more source

Domestication‐associated reduction of methyl salicylate in tomato root and its significance for resistance to root‐knot nematode

New Phytologist, Volume 252, Issue 1, Page 414-426, October 2026.
Root volatile profiling reveals domestication‐associated variation in methyl salicylate (MeSA) accumulation in tomato. Summary Methyl salicylate (MeSA) plays diverse roles in the aerial parts of plants. By contrast, its biosynthesis and function in roots remain poorly understood.
Weijiao Wang, Manoj Sapkota, Sobhan Bahrami Zadegan, Tarek Hewezi, Esther van der Knaap, Feng Chen   +5 more
wiley   +1 more source

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene. [PDF]

, 2000
Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous.
Desviat, Lourdes, Ugarte, Magdalena, Perez, Belen, Wiszniewski, Wojciech, Żekanowski, Cezary   +4 more
core  

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

Biologics: Targets & Therapy, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
doaj