Results 61 to 70 of about 6,585 (184)

Single‐Cell Sequencing Reveals That CCL2+ Adipose‐Derived Stem Cells Promote Diabetic Wound Healing Through the CCL2‐ACKR1 Signaling Axis

open access: yesThe FASEB Journal, Volume 40, Issue 9, 15 May 2026.
scRNA‐seq of human adipose and diabetic wounds revealed a CCL2+ ADSC subpopulation with high stemness and ECM‐enriched pathways. These cells serve as a signaling hub via TGFB1‐TGFBR1, IL34‐CSF1R, and CCL2‐ACKR1. Their exosomes (CCL2‐Exos), carrying CCL2, TGFB1, and IL34, accelerate diabetic wound healing in mice by promoting angiogenesis, collagen ...
Songyun Zhao   +10 more
wiley   +1 more source

Bisphosphonates Targeting Ion Channels and Musculoskeletal Effects

open access: yesFrontiers in Pharmacology, 2022
Bisphosphonates (BPs) are the most used bone-specific anti-resorptive agents, often chosen as first-line therapy in several bone diseases characterized by an imbalance between osteoblast-mediated bone production and osteoclast-mediated bone resorption ...
Rosa Scala   +11 more
doaj   +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, Volume 200, Issue 5, Page 1062-1068, May 2026.
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

Muscle developmental defects in heterogeneous nuclear Ribonucleoprotein A1 knockout mice [PDF]

open access: yesOpen Biology, 2017
Heterogeneous ribonucleoprotein A1 (hnRNP A1) is crucial for regulating alternative splicing. Its integrated function within an organism has not, however, been identified. We generated hnRNP A1 knockout mice to study the role of hnRNP A1 in vivo.
Ting-Yuan Liu   +7 more
doaj   +1 more source

Differential mechanisms of Cantú syndrome–associated gain of function mutations in theABCC9(SUR2) subunit of the KATP channel [PDF]

open access: yesJournal of General Physiology, 2015
Cantú syndrome (CS) is a rare disease characterized by congenital hypertrichosis, distinct facial features, osteochondrodysplasia, and cardiac defects. Recent genetic analysis has revealed that the majority of CS patients carry a missense mutation in ABCC9, which codes for the sulfonylurea receptor SUR2.
Cooper, Paige E   +3 more
openaire   +3 more sources

PRDM1+ Malignant Cells Mediate an Immunosuppressive Landscape and Resistance to Neoadjuvant Chemoradiotherapy and Immunotherapy in Esophageal Squamous Cell Carcinoma

open access: yesAdvanced Science, Volume 13, Issue 17, 23 March 2026.
Integrated scRNA‐seq, scTCR‐seq analysis, and functional assays identify PRDM1+ malignant epithelial cells with hyper lipid peroxidation characteristics that demonstrate reduced responsiveness to the nICRT treatment. Principal factor PRDM1 activates cysteine metabolism genes to modulate lipid peroxidation (an intrinsic cellular pathway related to ...
Dijian Shen   +12 more
wiley   +1 more source

Genetic variations for the eggshell crystal structure revealed by genome-wide association study in chickens

open access: yesBMC Genomics, 2021
Background Eggshell is a bio-ceramic material comprising columnar calcite (CaCO3) crystals and organic proteinaceous matrix. The size, shape and orientation of the CaCO3 crystals influence the microstructural properties of chicken eggshells. However, the
Quanlin Li   +5 more
doaj   +1 more source

Smoking‐Induced STC2+ Tumor Cells Drive Tumor‐Vascular Crosstalk in Laryngeal Squamous Cell Carcinoma via Spatial and Single‐Cell Transcriptomics

open access: yesAdvanced Science, Volume 13, Issue 5, 27 January 2026.
This study identifies a smoking‐induced mechanism in LSCC whereby nicotine activates the CHRNA5–JAK2/STAT3 axis to drive STC2 transcription. STC2 upregulates TGFBI, which interacts with endothelial ITGA5 to regulate vascular permeability and promote metastasis.
Yujie Shen   +5 more
wiley   +1 more source

Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework

open access: yesInternational Journal of Genomics, 2020
Purpose. Next-generation sequencing (NGS) has become more accessible, leading to an increasing number of genetic studies of familial bradycardia being reported. However, most of the variants lack full evaluation.
Liting Cheng   +6 more
doaj   +1 more source

Early Onset Heart Failure due to RBM20 Variant: A Case Report Emphasizing Genetic Diagnosis and Arrhythmic Risk Stratification

open access: yesClinical Case Reports, Volume 14, Issue 1, January 2026.
Transthoracic echocardiography demonstrating biventricular dilatation. Parasternal long‐ and short‐axis views and apical four‐ and two‐chamber views show marked left ventricular dilatation with increased end‐diastolic volume, associated with right ventricular dilatation.
Cristian Orlando Porras Bueno   +3 more
wiley   +1 more source

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