Results 141 to 150 of about 348,599 (377)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley   +7 more
wiley   +1 more source

Arginine metabolism in uricotelic species = Metabolismo da arginina em espécies uricotélicas

open access: yesActa Scientiarum: Animal Sciences, 2010
Due to the lack of a complete urea cycle, uricotelic species, such as broilers, are not able to synthesize de novo arginine (Arg), thus depending exclusively on dietary Arg.
Jovanir Inês Müller Fernandes   +1 more
doaj  

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

HUMAN IMMUNE SYSTEM AND PHYSICAL EXERCISE

open access: yesМедицинская иммунология, 2014
. Physiological and biochemical changes proceeding in muscles during physical loads exert systemic influence upon protein biosynthesis. This process is accelerated in presence of free amino acids, sufficient quantities of hormones, creatine, hydrogen ...
Z. Ch. Musin, S. V. Latukhov
doaj   +1 more source

Disrupted GABAergic facilitation of working memory performance in people with schizophrenia. [PDF]

open access: yes, 2020
ObjectivesGamma-Amiobutyric acid (GABA) is a primary inhibitory neurotransmitter that facilitates neural oscillations that coordinate neural activity between brain networks to facilitate cognition.
Carter, CS   +7 more
core  

Effects of 4-Week Creatine Supplementation Combined with Complex Training on Muscle Damage and Sport Performance

open access: yesNutrients, 2018
Creatine supplementation has an ergogenic effect in an acute complex training bout, but the benefits of chronic creatine supplementation during long-term complex training remain unknown.
Chia-Chi Wang   +4 more
semanticscholar   +1 more source

Renal vessel–assisted anastomosis improves the abdominal heart transplant model in rats without bilateral lower limb ischemia

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A modified heterotopic heart transplantation (HTx) in rats was reported to improve the surgical success rate, in which the donor's vessels, the brachiocephalic trunk (BT) and the pulmonary artery (PA), were sutured to the recipient's left renal artery (RA) and left renal vein (RV).
Meng Wang, Wuxia Wang, Xunfeng Zou
wiley   +1 more source

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