Results 171 to 180 of about 282,265 (261)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Structural insight into bicarbonate-mediated carboxylation by human vitamin K-dependent carboxylase. [PDF]

open access: yesNat Commun
Wu K   +11 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Plasma proteomic profiles of patients during oral anti-coagulant treatment with vitamin K antagonists. [PDF]

open access: yesBr J Haematol
Camilleri E   +8 more
europepmc   +1 more source

Evaluation of therapeutic effects of D‐limonene following orchiopexy in the rat model of cryptorchidism

open access: yesAnimal Models and Experimental Medicine, EarlyView.
D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala   +6 more
wiley   +1 more source

The potency of native postbiotics and paraprobiotics in modulating inflammation by affecting the gut–kidney axis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Native postbiotics and paraprobiotics derived from Lactobacillus and Bifidobacterium strains were administered to dextran sulfate sodium–treated C57BL/6 mice to evaluate their impact on kidney inflammation via the gut–kidney axis. Histological analysis and quantitative polymerase chain reaction of autophagy‐related genes (atg5, atg7, atg12, atg13 ...
Fatemeh Haririzadeh Jouriani   +6 more
wiley   +1 more source

Beyond the Fixed Charge: A New On‐Tissue Derivatisation Strategy Employing Photoionisable Chromophores for Mass Spectrometry Imaging of Amino‐Containing Metabolites

open access: yesAngewandte Chemie, EarlyView.
We introduce a novel chemical derivatisation strategy for the UV‐activated detection of elusive metabolites. Incorporation of a tocopherol‐active chromophore allows for the detection of tagged analytes as photoionised radical cations, selectively induced by a 266 nm laser.
Sofia R. McGowan   +5 more
wiley   +2 more sources

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