Results 131 to 140 of about 2,249,426 (311)
Human GenomicsGenomic advancements have led to increased utilization of genetic testing in clinical care, yet barriers to accessing genetic counseling and genomics services remain, particularly in the Middle East where inherited diseases are highly prevalent due to ...
Shruti Shenbagam +5 more
doaj +1 more source
Molecular Oncology, EarlyView.LUNAR is a liver‐specific long noncoding RNA (lncRNA) that is highly expressed in normal liver but becomes epigenetically silenced in hepatocellular carcinoma through promoter hypermethylation. Loss of LUNAR is associated with NOTCH activation, epithelial–mesenchymal transition, and metastasis, whereas restoring LUNAR restrains metastatic progression ...
Se Ha Jang +9 more
wiley +1 more source
Translating whole‐genome doubling into precision medicine in cancer
Molecular Oncology, EarlyView.Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley +1 more source
Parent experiences with genetic testing for pediatric hearing loss
The purpose of the current study was to assess parent perceptions and experiences of genetic testing, as well as barriers for not undergoing testing in a sample of families of children with hearing loss.
Yunis, Valerie +5 more
core +1 more source
Molecular Oncology, EarlyView.Single‐cell DNA methylation (scDNAme) profiling maps epimutational clonal evolution, revealing mechanisms of malignancy and therapeutic resistance across diverse cancer types. By providing a high‐resolution landscape of intratumoral heterogeneity, these technologies empower precise patient stratification, guide the development of enhanced ...
Ik Soo Kim
wiley +1 more source
, 2015 A rare case of aniridia and balanced translocation (5:11)(p15.3;q22) arising in the same subject: et challenge for genetic counseling: The authors report on a case of isolated aniridia caused by haploinsufficiency of the PAX6 gene, which is located on ...
Maciel-Guerra, AT, Vulcan-Freitas, TM
core
Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is one of the most common autosomal codominant Mendelian diseases. The major complications of FH include tendon and cutaneous xanthomas and coronary artery disease (CAD) associated with a substantial elevation of serum ...
Tomoko Sekiya +5 more
core +1 more source
Genetic counseling of fetal microcephaly
Journal of Medical UltrasoundFetal microcephaly is a small head with various losses of cerebral cortical volume. The affected cases may suffer from a wide range in severity of impaired cerebral development from slight to severe mental retardation.
Shu-Chin Chien, Chih-Ping Chen
doaj +1 more source
Spatial biology in cancer epigenetics
Molecular Oncology, EarlyView.Spatial epigenomics combines molecular profiling with tissue architecture to reveal how gene regulation is organized within intact tissues. In cancer, these technologies uncover the mechanisms driving tumor heterogeneity and microenvironmental interactions, opening new opportunities for biomarker discovery and precision medicine.
Eva Crespo‐García, Manel Esteller
wiley +1 more source
Molecular Oncology, EarlyView.Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche +10 more
wiley +1 more source