Genomic rearrangements (gross chromosomal rearrangements, GCRs) threatens genome integrity and cause cell death or tumor formation. At the terminus of linear chromosomes, a telomere-binding protein complex, called shelterin, ensures chromosome stability ...
Hiroyuki Irie +5 more
doaj +1 more source
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia. [PDF]
Key Points Germ line loss-of-function mutations in shelterin genes occur in a subset of families with CLL. Telomere dysregulation is further implicated in CLL predisposition.
Speedy HE +11 more
europepmc +4 more sources
Shelterin complex in telomere protection: recent insights and pathological significance
Sampada Kalan, Diego Loayza Department of Biological Sciences, Hunter College, and Graduate Center of the City University of New York, NY, USA Abstract: Telomeres are essential for chromosome integrity and stability. The telomerase complex is the reverse transcriptase required for the addition of telomeric repeats at chromosome ends and is essential ...
Diego Loayza, Sampada Kalan
openaire +4 more sources
Staging concept for aging management: Definition, mechanism, and coping strategies
We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang +6 more
wiley +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source
Identification of human TERT elements necessary for telomerase recruitment to telomeres
Human chromosomes terminate in telomeres, repetitive DNA sequences bound by the shelterin complex. Shelterin protects chromosome ends, prevents recognition by the DNA damage machinery, and recruits telomerase. A patch of amino acids, termed the TEL-patch,
Jens C Schmidt +2 more
doaj +1 more source
Roles of Specialized Chromatin and DNA Structures at Subtelomeres in Schizosaccharomyces pombe
Eukaryotes have linear chromosomes with domains called telomeres at both ends. The telomere DNA consists of a simple tandem repeat sequence, and multiple telomere-binding proteins including the shelterin complex maintain chromosome-end structures and ...
Junko Kanoh
doaj +1 more source
The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke +2 more
wiley +1 more source
AKT-dependent signaling of extracellular cues through telomeres impact on tumorigenesis.
The telomere-bound shelterin complex is essential for chromosome-end protection and genomic stability. Little is known on the regulation of shelterin components by extracellular signals including developmental and environmental cues.
Raúl Sánchez-Vázquez +2 more
doaj +1 more source
Structure and function of the telomeric CST complex
Telomeres comprise the ends of eukaryotic chromosomes and are essential for cell proliferation and genome maintenance. Telomeres are replicated by telomerase, a ribonucleoprotein (RNP) reverse transcriptase, and are maintained primarily by nucleoprotein ...
Cory Rice, Emmanuel Skordalakes
doaj +1 more source

