Results 211 to 220 of about 21,365,185 (276)

Deep Learning Classification of Pancreatic Cancer Cells Over a Progression of Epithelial to Mesenchymal States by Deformability Cytometry Under Microfluidic Viscoelastic Flows

open access: yesAdvanced Intelligent Systems, EarlyView.
Cancer cells progressively spread over intermediate epithelial‐to‐mesenchymal transition states that cause nuclear enlargement and circular redistribution of filamentous vimentin are classified by deformability cytometry coupled to a multi‐region deep learning model with convolutional feature extraction and attention‐based regional aggregation.
Javad Jarmoshti   +8 more
wiley   +1 more source

AI‐Powered 3D Liver Fat Volumetric Map for Clinical‐Grade Steatosis Assessment From Cross‐Modality MRI

open access: yesAdvanced Intelligent Systems, EarlyView.
An automated, AI‐powered system generates a 3D liver fat volumetric map for precise fat fraction quantification from MRI. By overcoming manual analysis constraints, it provides high‐fidelity spatial characterization of steatosis. This graphical abstract highlights a clinically robust framework that enables efficient, anatomically informed assessment ...
Bincan Deng   +9 more
wiley   +1 more source

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

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

An Atypical Root Canal Configuration of Maxillary Second Molar: A Case Report. [PDF]

open access: yesJ Dent (Shiraz)
Rezaei Nejad A   +3 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell   +16 more
wiley   +1 more source

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