Results 261 to 270 of about 521,154 (335)

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Investigation of effects of collection conditions on amino acid concentrations in sweat and correlations with their Circulating levels in plasma. [PDF]

Sci Rep
Spano J, Demchak L, Nakano K, Conti T, Heikenfeld J, Milla C.   +5 more
europepmc   +1 more source

Microbial Production of L-Threonine

, 1969
Isamu Shiio, Shigeru Nakamori
openalex   +2 more sources

A missense mutation in the γD crystallin gene (CRYGD) associated with autosomal dominant coral-like cataract linked to chromosome 2q [PDF]

, 2004
Andley, Usha P, Mackay, Donna S, Shiels, Alan   +2 more
core   +1 more source

Metabolic alterations in human pulmonary artery smooth muscle cells treated with PDGF‐BB

Animal Models and Experimental Medicine, EarlyView.
Metabolic abnormalities are considered to play a key regulatory role in vascular remodeling of pulmonary arterial hypertension. We analyzed the metabolome in the culture supernatants of human pulmonary artery smooth muscle cells (PASMC) during the malignant proliferation phenotype transition via a targeted metabolomics method. Significant and extensive
Meng‐Jie Zhang, Jie‐Jian Kou, Hong‐Da Zhang, Xin‐Mei Xie, Yun‐Feng Zhou, Ping Yuan, Xiao‐Bin Pang, Lu‐Ling Zhao, Jing Qiu, Yang‐Yang He   +9 more
wiley   +1 more source

Synthetic pathways for microbial biosynthesis of valuable pyrazine derivatives using genetically modified <i>Pseudomonas putida</i> KT2440. [PDF]

Metab Eng Commun
Petkevičius V, Juknevičiūtė J, Mašonis D, Meškys R.   +3 more
europepmc   +1 more source

Threonine Synthetase Mechanism: Studies with Isotopic Hydrogen

, 1960
Martin Flavin, Clarence Slaughter
openalex   +1 more source

Regulation of Lysine and Threonine Synthesis. [PDF]

The Plant Cell, 1995
openaire   +2 more sources

Comparison of the effects of metformin, citral, Cymbopogon citratus extract and silver nanoparticles of Cymbopogon citratus extract on oxidative stress indices and Nrf2 levels in experimental type 2 diabetes in rats

Animal Models and Experimental Medicine, EarlyView.
The experimental type 2 diabetes model in rats induced by streptozotocin and nicotinamide showed that silver nanoparticles synthesized from lemongrass extract modulate blood glucose, water and food intake, and enhance antioxidant enzyme synthesis and weight gains.
Milad Faraji, Mohammad Foad Noorbakhsh, Nasrin Kazemipour, Saeed Nazifi, Hamid Reza Moradi, Nasrollah Ahmadi, Maryam Azadmanesh   +6 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source