Results 41 to 50 of about 75,040 (259)
Single‐cell, spatial, molecular, and pathology analyses identify a CDH3‐associated malignant epithelial state in thymic epithelial tumors. This state links stem‐like and EMT programs to M2 macrophage–rich immunosuppressive niches, genomic instability, poor survival, and drug vulnerability.
Yuntao Feng +13 more
wiley +1 more source
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits [PDF]
There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 ...
Martin D Tobin (7795649) +3 more
core +3 more sources
Classification of homologous genes (CNV/non-CNV) into the curated gene classes.
Classification of homologous genes (CNV/non-CNV) into the curated gene classes.
Kyriacos Felekkis (491527) +5 more
core +1 more source
NICE: A Two‐Step Non‐Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment
The non‐invasive NICE framework, built on an ensemble stacking machine learning model, prioritizes embryos by analyzing cell‐free DNA from spent culture medium. By integrating multimodal signals, including genomic and epigenetic profiles, this automated approach standardizes morphological assessment without human bias, paving the way for more precise ...
Xueya Zhou +6 more
wiley +1 more source
The emergence of anti-vascular endothelial growth factor (anti-VEGF) therapy has marked a paradigm shift in the treatment of retinal and choroidal vascular diseases.
Chitaranjan Mishra +4 more
doaj +1 more source
Determination of the precise location and the degree of the Choroidal neovascularization (CNV) lesion is essential for diagnosation Neovascular age-related macular degeneration (AMD) and evaluation the efficacy of treatment.
Fengxian Du +6 more
doaj +1 more source
Overview of module subtype and size in CNV-ICC-TRN.
In both A and B figures, blue color represents CNV-gene-only enriched module, green color represents CNV-TF-only regulated module, red color represents both CNV-TF regulated and CNV-gene enriched module.
Wei Li (7081) +8 more
core +1 more source
TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale +23 more
wiley +1 more source
Purpose To study whether retinal pigment epithelium (RPE) disruption and choroidal hyper-transmission on spectral-domain optical coherence tomography (SD-OCT) are signs of inflammatory neovascularization (CNV) in punctate inner choroidopathy (PIC ...
Yanru Chen +3 more
doaj +1 more source
Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations [PDF]
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Xie J +7 more
europepmc +2 more sources

