Results 121 to 130 of about 59,567 (314)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
Acacetin and Chrysin, Two Polyphenolic Compounds, Alleviate Telomeric Position Effect in Human Cells
Molecular Therapy: Nucleic Acids, 2013 We took advantage of the ability of human telomeres to silence neighboring genes (telomere position effect or TPE) to design a high-throughput screening assay for drugs altering telomeres.
Amina Boussouar +11 more
doaj +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang +3 more
wiley +1 more source
Telomeres, a Busy Platform for Cell Signaling
Frontiers in Oncology, 2013 Telomeres are the terminal structures at the ends of linear chromosomes that represent a solution to the end replication problem. Specific binding of the six-protein subunit complex shelterin to telomeric, repetitive TTAGGG DNA sequences contributes to ...
Laura eGardano +4 more
doaj +1 more source
A cost‐effective DNA extraction protocol for long‐read sequencing in non‐model plants
Applications in Plant Sciences, EarlyView.Abstract Premise Third‐generation sequencing has revolutionized genomics, enabling in‐depth analysis of genome sequence, structure, and epigenetic features. Yet, extracting high‐quality DNA for long‐read sequencing remains a bottleneck—particularly in non‐model plants, such as mature trees growing in natural environments, which often contain abundant ...
Sofia Gaischuk +6 more
wiley +1 more source
Modulation of telomere protection by the PI3K/AKT pathway
Nature Communications, 2017 Regulation of telomeres and the insulin/PI3K pathway both have roles in aging and cancer development but have not been functionally linked. Here the authors demonstrate that PI3K, via downstream targets, regulates TRF1 via phosphorylation.
Marinela Méndez-Pertuz +10 more
doaj +1 more source
Highly Aggressive Metastatic Melanoma Cells Unable to Maintain Telomere Length
Cell Reports, 2017 Summary: Unlimited replicative potential is one of the hallmarks of cancer cells. In melanoma, hTERT (telomerase reverse transcriptase) is frequently overexpressed because of activating mutations in its promoter, suggesting that telomerase is necessary ...
Nikenza Viceconte +6 more
doaj +1 more source
Animal Research and One Health, EarlyView.Woody breast compromises meat quality leading to reduced consumer appeal. Although its causes are unclear, improvements observed with certain dietary supplements suggest that gut health may influence woody breast development. Ribonucleotide reductase subunit RRM2 is vital for mitochondrial function and gastrointestinal integrity, and alteration in its ...
Majid Shakeri +8 more
wiley +1 more source
Cytogenetic and Genome Research, 2013 In fishes, as in other vertebrate species, the DNA component of the telomeres consists of the tandemly repeated TTAGGG motif. The length of the telomeric arrays in fishes ranges from 2 to 25 kb and shortens with age in some of the species. To date, chromosomal distribution of the telomeric DNA sequences has been examined in approximately 80 fish ...
openaire +2 more sources
BMEMat, EarlyView.Ultrasound‐responsive nanoplatforms reprogram the tumor immune microenvironment by targeting tumor cells, immune cells, and non‐immune stromal cells to enhance the efficacy of cancer immunotherapy. Abstract Cancer immunotherapy represents a significant advancement in cancer treatment by enhancing the specific recognition and elimination of cancer cells.
Shilong Zhao +4 more
wiley +1 more source