Results 91 to 100 of about 97,027 (280)

Dual Aptamers‐Based SETDB1 PROTACs as Effective Anti‐Tumor Strategies for Breast Cancer

open access: yesAdvanced Science, EarlyView.
This study establishes dual‐aptamer PROTACs targeting SETDB1 using a SETDB1‐specific aptamer conjugated to AS1411. The designed PROTACs penetrate cells, recruit MDM2 to degrade SETDB1, and inhibit cancer cell proliferation and migration. Remarkably, they also overcome tamoxifen resistance and enhance CD8+ T cell cytotoxicity, suppressing tumor growth ...
Yanxuan Guo   +6 more
wiley   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón   +10 more
wiley   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst   +4 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

Assessing Angiogenic Properties In Vitro or In Ovo of Pre‐Crosslinked Alginate‐Dialdehyde‐Gelatin Hydrogels Incorporating Boron‐Doped Mesoporous Bioactive Glass Particles

open access: yesAdvanced NanoBiomed Research, EarlyView.
This study examines the influence of boron‐doped mesoporous bioactive glass nanoparticles (MBGN) blended in cast and 3D‐printed pre‐crosslinked alginate‐dialdehyde‐gelatin (ADA‐GEL). Addition of 0.5% and 1% MBGN did not negatively affect the viability of human umbilical vein endothelial cells (HUVECs), or the sprouting of HUVEC spheroids.
Rafael Schmid   +12 more
wiley   +1 more source

Use of Restricted Nursing and a Bovine Appeasing Substance on the Welfare, Growth Performance, and Response to Vaccination of Beef Calves at Weaning

open access: yesAnimal Research and One Health, EarlyView.
The effects of restricted nursing (RN) and the administration of a bovine appeasing substance (BAS) on days −8 and 0 in relation to weaning were evaluated. Both strategies were effective in improving the growth performance of beef calves. Regarding welfare, BAS ‐especially on day 0‐ was more effective than RN.
Denise E. Mussalafo   +8 more
wiley   +1 more source

Safety of Withholding Perioperative Hydrocortisone for Patients With Pituitary Adenomas With an Intact Hypothalamus-Pituitary-Adrenal Axis

open access: gold, 2022
Xiaopeng Guo   +25 more
openalex   +1 more source

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