Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential
FEBS Letters, EarlyView.Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta +3 more
wiley +1 more source
Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays
BiomoleculesInherited platelet disorders (IPDs) are a group of rare conditions affecting platelet number, function, or both. Clinical manifestations vary widely, from asymptomatic cases to patients with severe bleeding, syndromic features, or early-onset blood ...
Ana Sánchez-Fuentes +3 more
doaj +1 more source
Inherited metabolic disorders in Cyprus
Molecular Genetics and Metabolism ReportsSelective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of Biochemical Genetics for the whole island facilitated the creation of a national registry for IMD.
Theodoros Georgiou +17 more
openaire +3 more sources
Structure‐forward targeting of claudins with synthetic binders
FEBS Letters, EarlyView.Claudins form the paracellular barriers between epithelial and endothelial tissues at tight junctions and are targets for molecular binders with the goal of modulating barrier permeability. Claudin‐binding molecules are relevant in drug delivery or in altering claudin interactions with disease‐causing proteins.
Alex J. Vecchio
wiley +1 more source
Familial myelodysplastic syndromes: a review of the literature
Haematologica, 2011 Familial cases of myelodysplastic syndromes are rare, but are immensely valuable for the investigation of the molecular pathogenesis of myelodysplasia in general.
Elena Liew, Carolyn Owen
doaj +1 more source
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. [PDF]
Clin Epigenetics, 2022 Oussalah A +21 more
europepmc +1 more source
Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation
FEBS Letters, EarlyView.Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang +2 more
wiley +1 more source
FACTOR-X DEFICIENCY: A RARE DISORDER TO BE LOOKED FOR IN CASES OF CONGENITAL BLEEDING TENDENCY [PDF]
Khyber Medical University Journal, 2018 Factor X deficiency is a rare, autosomal recessive disorder that involves the coagulation cascade. People with this disorder present with a myriad of early life bleeding complications.
Fatima Ayaz +2 more
doaj
A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism. [PDF]
Clin Epigenetics, 2023 Matmat K +14 more
europepmc +1 more source
Liver organoids: modelling complexity in homeostasis and disease
FEBS Letters, EarlyView.Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley +1 more source