Cancer-associated bone disease is a frequent occurrence in cancer patients and is associated with pain, bone fragility, loss, and fractures. (aging-us.com)
Long arm of chromosome2
For example, breakage at or near the FRA11b locus has been implicated in Jacobsen syndrome, which is characterized by loss of part of the long arm of chromosome 11 accompanied by mild mental retardation. (wikipedia.org)
The FUT2 gene is located on the long arm of chromosome 19. (xcode.life)
Partial trisomy1
In vitro and in vivo genomic engineering, leveraging loss-of-function studies, along with a model of partial trisomy of chromosome 21q, demonstrated a dosage-dependent effect of the interferon receptor genes cluster as an adaptive mechanism to deleterious chromosomal instability in metastatic progression. (bvsalud.org)
Fractures1
Low bone mass and strength lead to fragility and fractures, for example in elderly individuals affected by osteoporosis or children suffering from osteogenesis imperfecta [ 4 ]. (aging-us.com)
Instability3
Advances in molecular biology techniques allow us to obtain a better understanding of precise molecular mechanisms and to identify the chromosome instability region and key driver genes in the carcinogenesis and progression of SOC. (bvsalud.org)
Trinucleotide repeats are a source of genome instability, causing replication fork stalling, chromosome fragility, and impaired repair. (tufts.edu)
The Srs2 helicase unwinds DNA hairpins, facilitates replication, and prevents repeat instability and fragility. (tufts.edu)
Molecular mechanisms1
Freudenreich, C. H., 2007 Chromosome fragility: molecular mechanisms and cellular consequences. (caspase1inhibitor.com)
Gene7
Dr. Warren used the unusual fragility of the X chromosome in patients with fragile X as a tool to begin the search for the causative gene, a tool that he shared with the other top scientists in the fragile X field. (emory.edu)
These include changes within the SATB2 gene itself and deletions of large pieces of DNA from chromosome 2 that remove the SATB2 gene and other nearby genes. (medlineplus.gov)
It is due to a 1.4 Mb duplication on chromosome 17p11.2 that includes the PMP22 gene encoding for the peripheral myelin protein 22 [3]. (fortuneonline.org)
Homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13 is the cause of GPI deficiency. (biomedcentral.com)
Glucose-6-phosphate isomerase (GPI) deficiency (MIM 613470), one of hereditary nonspherocytic hemolytic anemias (HNSHA), is a rare autosomal recessive hereditary disease caused by homozygous or compound heterozygous mutations of GPI gene on chromosome 19q13 [ 1 ]. (biomedcentral.com)
X-linked hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets are the result of mutations in PHEX (a phosphate-regulating gene with homologies to endopeptidases on the X chromosome) and dentin matrix protein 1 ( DMP1 ), respectively. (medscape.com)
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). (nih.gov)
Cellular2
These findings led to the hypothesis that chromosome structure directly influences cellular phenotypes. (nature.com)
Chromosomes are the cellular storage units for genes contained within the nucleus (which is the genetic center) of the cell and are analogous to a spool with the DNA or genetic message being the thread on the spool. (sarcomahelp.org)
Fragile4
A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break when the cell is exposed to partial replication stress. (wikipedia.org)
Common fragile sites are considered part of normal chromosome structure and are present in all (or nearly all) individuals in a population. (wikipedia.org)
For a database of fragile sites in human chromosomes, see Rare fragile sites (RFSs) are classified into two sub-groups based on the compounds that elicit breakage: folate-sensitive groups (for examples, see ), and nonfolate-sensitive groups, which are induced by bromodeoxyuridine (BrdU) or distamycin A, an antibiotic that preferentially binds to AT-pairs of DNA. (wikipedia.org)
These fragile loci are targeted by the Fanconi anemia protein, FANCD2, to facilitate the resolution of under-replicated DNA, thus preventing chromosome mis-segregation and allowing cells to proliferate. (unipa.it)
Translocation1
A translocation involves the mechanical breakage and reconnection between different chromosomes (Obata 1999). (sarcomahelp.org)
Prevents1
We show that the Srs2 protein facilitates replication of hairpin-forming CGG/CCG repeats and prevents chromosome fragility at the repeat, whereas it does not affect replication of G-quadruplex forming sequences or a protein-bound repeat. (uthscsa.edu)
Disability1
Human aging comprising the progressive deterioration, time-dependent functions of the adult organism with a homeoestenosis key physiological systems (nervous, endocrine, immune, cardiovascular and musculoskeletal), which goes from the robustness to frailty, illness, disability and ending in death [1,2]. (medcraveonline.com)
Syndrome1
1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. (nih.gov)
Genome1
While abnormal mitosis, including whole-genome duplication, underlies chromosomal copy-number changes, segmental alterations display signatures of successive breakage-fusion-bridge cycles and chromothripsis of unstable dicentric chromosomes. (bvsalud.org)
Genes2
S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. (wn.com)
Humans have a duplicate set of 23 chromosomes (or a total of 46 chromosomes) in any given cell that carries all of the human genes. (sarcomahelp.org)
Cancer2
Our work argued that miRNA-dependent regulation of shelterin function has a clinically significant impact on telomere function, suggesting the existence of 'telo-miRNAs' that have an impact on cancer and aging. (uniud.it)
In summary, our results suggest that gastric cancer cells might cause bone damage prior to the occurrence of bone metastasis via cilia-dependent activation of the Wnt/β-catenin signaling pathway. (aging-us.com)
Protein2
This is followed by a DNA resection-dependent spreading of NuA4 on each side of the break along with the ssDNA-binding replication protein A (RPA). (uthscsa.edu)
Most benefits were demonstrated in cyclin dependent-kinase 12 ( CDK12) mutated cell lines when treated with anti-programmed cell death protein 1 (PD1) therapy. (bjbms.org)
Replication1
Depletion of SETX induces spontaneous under-replication and chromosome fragility due to active transcription and R-loops that persist in mitosis. (unipa.it)
Physiological2
Casola's research team is also interested in understanding the physiological process controlling B-cell dependent immune responses . (armeniseharvard.org)
Aging is a process of deterioration of physiological functions, time-dependent, leading to homeoestenosis. (medcraveonline.com)
Pathway1
Doublecortin, along with the newly characterized mDab1, may define an Abl-dependent pathway regulating neuronal migration. (nih.gov)
Elderly1
As we age, our bodies produce less collagen, and it is this decrease in collagen that leads to the emergence of wrinkling, sagging and fragility of the skin seen in elderly individuals. (drvegan.com)
Mutation1
The DMD phenotype in female carriers of a dystrophin mutation has a direct correlation with a skewed X-chromosome inactivation pattern [ 6 ]. (springeropen.com)
Species1
While CFSs could be a result of higher-order chromosome structure, the conservation throughout species could also indicate that they may have some conserved biological purpose. (wikipedia.org)
Structure3
Telomeres consist of DNA tandem repeats that recruit the multiprotein complex shelterin to build a chromatin structure that protects chromosome ends. (uniud.it)
Compromising TRF1 expression by elevating miR-155 increased telomere fragility and altered the structure of metaphase chromosomes. (uniud.it)
Early observations revealed that individual chromosomes occupy distinct nuclear territories and, while their arrangement varies between different cell types, this structure is conserved between mother and daughter cells 2 . (nature.com)
Skin3
The high fragility of these red blood cells makes them more prone to breakdown, resulting in excess bilirubin formation which imparts a yellow color to the skin. (xcode.life)
The 2 main sources of vitamin D in humans are vitamin D 3 ( cholecalciferol ), produced by the skin after ultraviolet (UV) radiation (290-320nm)-dependent conversion of 7-dehydrocholesterol, and dietary intake of either vitamin D 2 (ergocalciferol) or vitamin D 3 . (medscape.com)
It often appears at birth or during infancy and is characterized by severe skin fragility, erosions, and blisters . (medicinenet.com)
Size1
Our value isn't dependent upon our size, our ability to contribute to society or even our viability. (cbc.ca)
Repeat1
Independently of PCNA binding, Srs2 also displaces Rad51 from nascent strands to prevent recombination-dependent repeat expansions and contractions. (tufts.edu)
Active1
Is kind of experimental setup is dependent around the availability of an active website inhibitorMar. (caspase1inhibitor.com)
Notes1
As discussed in her poignant essay, Verberkt notes that the fragility of her brother and the pervasive sense of worry in the family led to different concerns, a sense of responsibility, an experience of troublesome emotions, and a different career path than she might have had if not confronted by DMD [ 11 ]. (springeropen.com)
Cells1
The alteration of the mitochondrial network only when cells are challenged in aerobiosis testifies to the fragility of mitochondria, which are unable to meet the metabolic needs of neurons. (fortuneonline.org)
Blood2
Multiple quantitative trait loci for blood pressure interacting epistatically and additively on dahl rat chromosome 2. (mcw.edu)
The epidermis contains no blood vessels and is entirely dependent on the underlying dermis for nutrient delivery and waste disposal via diffusion through the dermoepidermal junction. (medscape.com)
Ends1
Here, we report a stepwise recruitment of yeast NuA4 to DSBs first by a DNA damage-induced phosphorylation-dependent interaction with the Xrs2 subunit of the Mre11-Rad50-Xrs2 (MRX) complex bound to DNA ends. (uthscsa.edu)
Condition1
Jason McAllister's daughter has trisomy 18, a genetic condition that results in an extra copy of the 18th chromosome. (cbc.ca)
Complex1
Phospho-dependent recruitment of the yeast NuA4 acetyltransferase complex by MRX at DNA breaks regulates RPA dynamics during resection. (uthscsa.edu)