Results 1 to 10 of about 39 (39)
Acta Paediatrica, EarlyView.ABSTRACT Aim Neonates discharged home on medications remain at risk of medication errors. The PADDINGToN programme previously developed parent co‐designed resources to support safer medication administration following discharge. The aim of this study, PADDINGToN‐2, is to evaluate the feasibility of recruiting and retaining parents in a study assessing ...
S. Giva +9 more
wiley +1 more source
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly +3 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 6, June 2026.This patient was admitted to the hospital 43 h after birth with convulsions and hypoglycemia, presenting as recurrent refractory hypoglycemia that was difficult to control with conventional medication. Whole exome sequencing detected the GLUD1 (NM_005271.3:c.1495G>T, p.Gly499Cys) variant, which was a de novo variant in the patient and was not detected ...
Tingyu Li +6 more
wiley +1 more source
Cardiovascular Health in Women—Across the Lifespan
Clinical Endocrinology, Volume 104, Issue 6, Page 539-555, June 2026.ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar +5 more
wiley +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Opening closed inward rectifier potassium channel doors
British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger +3 more
wiley +1 more source
Pacing and Clinical Electrophysiology, Volume 49, Issue 5, Page 606-609, May 2026.ABSTRACT Background Permanent pacing in pediatric patients is complicated by small body size, vascular access limitations, and the need for durable long‐term management. Leadless pacemakers offer an emerging alternative that minimizes infection and lead‐related complications, yet vascular access remains a key challenge in young patients.
Marzia Giaccardi +4 more
wiley +1 more source
The FASEB Journal, Volume 40, Issue 7, 15 April 2026.In the non‐diabetic beta‐cell (top left) activation of glucokinase (bottom left) leads to inhibition of mitochondrial metabolism and thereby impairs insulin secretion. The effect is similar to that of chronic hyperglycaemia as seen in the diabetic beta‐cell (top right).
Matthew Lloyd +9 more
wiley +1 more source
From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family
Protein Science, Volume 35, Issue 4, April 2026.Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer +2 more
wiley +1 more source