Results 181 to 190 of about 5,314,306 (291)

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

open access: yesJournal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder   +7 more
wiley   +1 more source

Genome‐scale insights into metabolic streamlining and photosynthetic energy balance in the extremophile green alga Picocystis salinarum (Picocystophyceae, Chlorophyta)

open access: yesJournal of Phycology, EarlyView.
Abstract Picocystis salinarum is an early‐diverging chlorophyte and the sole described member of the Picocystophyceae, frequently dominating hypersaline and alkaline lakes despite extreme physicochemical constraints. To elucidate the genomic foundations of its ecological success, we generated a fully annotated, chromosome‐scale nuclear genome assembly ...
Claude Lemieux   +2 more
wiley   +1 more source

Narcolepsy and rapid eye movement sleep

open access: yesJournal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini   +4 more
wiley   +1 more source

A transfer RNA inosine modification drives genome-wide synonymous recoding across human commensal bacterial families. [PDF]

open access: yesPNAS Nexus
Katanski CD   +18 more
europepmc   +1 more source

Saccharomyces cerevisiae Yeast‐Based Supplement and Breast Milk Supply: A Randomised Placebo‐Controlled Trial

open access: yesMaternal &Child Nutrition, EarlyView.
Maternal brewer's yeast supplementation did not change the milk oligosaccharide (HMO) concentration, but more mothers felt their milk supply was increased, and fewer reported formula use by 6 months postpartum compared to those taking the placebo. This suggests the supplement may support breastfeeding, warranting further investigation in larger trials.
Lili Jia, Louise Brough, Janet L. Weber
wiley   +1 more source

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