Results 151 to 160 of about 57,504 (328)
Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes
Neurobiology of Disease, 2010 AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant +3 more
doaj
Prenatal Diagnosis, EarlyView.ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks +2 more
wiley +1 more source
Genetic diversity and population structure of pedunculate oaks (Quercus robur) in Wytham Woods
PLANTS, PEOPLE, PLANET, EarlyView.Genetic diversity underpins forest resilience and adaptation, yet centuries of human activity have reshaped woodland ecosystems worldwide. We studied the population genetics of pedunculate oaks (Quercus robur) in Wytham Woods, UK, across stands with different ages and management histories.
Tin Hang Hung +6 more
wiley +1 more source
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.ABSTRACT Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by impaired cortisol production and consequent elevated adrenocorticotropic hormone (ACTH): CAH patients often require lifelong hydrocortisone therapy. Disease severity reflects residual 21‐hydroxylase enzyme activity, crucial for cortisol synthesis.
Davide Bindellini +7 more
wiley +1 more source
UroPrecision, EarlyView.Abstract Coronavirus disease (COVID‐19) is caused by the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), which may infect the cells through binding with the angiotensin‐converting enzyme 2 (ACE2) receptors that can also be found in the male reproductive organs.
Wempy Supit +2 more
wiley +1 more source
Neural mechanisms and clinical features of anti‐influenza drug‐related psychiatric adverse events
VIEW, EarlyView.Anti–influenza drugs, while essential, have been increasingly associated with psychiatric adverse events (pAEs). Our study systematically investigated these pAEs by utilizing large pharmacovigilance databases and animal models, thereby revealing key clinical features and underlying neural mechanisms.
Anqi Lin +9 more
wiley +1 more source
Metabolic Control, Quality of Life, and Body Image in Patients with Glycogen Storage Disease Type Ia [PDF]
, 2019 Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary ...
Bream, Alexa
core +1 more source
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Objective Assessment of olfactory function with psychophysical testing requires cognitive demand to correctly pair test odors with remembered scents. Individuals suffering from long‐Corona Virus Disease 2019 (long‐COVID‐19) may develop a decline in neurocognitive performance, which may be concurrent with persistent olfactory dysfunction (OD ...
Jeremy P. Tervo +12 more
wiley +1 more source
CD38‐Targeting Peptide Vaccine Ameliorates Aging‐Associated Phenotypes in Mice
Aging Cell, EarlyView.Shangcheng Yu et al. revealed that CD38‐targeting peptide vaccine ameliorated aging‐associated physical and cognitive phenotypes in mice. CD38‐vaccine selectively depletes CD38+ myeloid cells, improves glucose tolerance, and enhances oxygen consumption.
Shangcheng Yu +10 more
wiley +1 more source