Science of omics: a molecular space odyssey
Experimental Physiology, EarlyView.
Salomé Coppens +3 more
wiley +1 more source
Site‐specific O‐glycans influence lacritin structure and multimerization in tears
Abstract Lacritin is an abundantly expressed glycoprotein in tear fluid and plays key roles in immune response, tear secretion, and bacterial killing. These biological functions are tightly regulated through several biochemical mechanisms including multimerization, proteolysis, and alternative splicing, especially within its C‐terminal domain.
Vincent Chang +7 more
wiley +1 more source
Targeting Lipoprotein(a): A New Era in Cardiovascular Disease Prevention. [PDF]
Bene-Alhasan Y +3 more
europepmc +1 more source
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source
Consultative General Internal Medicine for Complex Care: The Model, Outcomes, and Lessons Learned. [PDF]
Ghosh AK +7 more
europepmc +1 more source
Daily Heat Stress Induces Donor‐Side Limitation of PSI Via Downregulation of the Cyt b6f Complex
ABSTRACT The rapidly warming climate is driving increasingly frequent and intense heat waves worldwide, posing major challenges to plant metabolism and growth. Despite the central role of photosynthesis in plant growth, the effects of prolonged heat stress on the primary reactions of photosynthesis remain poorly understood.
Laura Laihonen +5 more
wiley +1 more source
Recurrent Acute-on-Chronic Hyponatraemia: A Diagnostic Odyssey Involving Drug-Induced Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH), Chronic Cannabis Use, and Occult Lung Adenocarcinoma. [PDF]
Alhashimi R, Tun Z, Agha E.
europepmc +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +123 more
wiley +1 more source
It Takes 2 (Repeats) to Lose TANGO2. [PDF]
Brutman JN, Hendricks NE, Valdmanis PN.
europepmc +1 more source
ODYSSEY-HCM trial (mavacamten in symptomatic nonobstructive hypertrophic cardiomyopathy). [PDF]
Monda E, Limongelli G.
europepmc +1 more source

