• The aberrant chromosomes were isolated by flow cytometry and used to map the chromosome 14 deletion or translocation breakpoints. (nih.gov)
  • Furthermore, a compilation of other human chromosome 14q proximal deletion and translocation cases was obtained from a search on cytogenetic databases. (nih.gov)
  • The region was previously implicated in chromosome 22q11.2 deletion syndrome and a wide range of other cognitive, developmental, cardiac, immune, gastrointestinal, and psychiatric conditions, as well as facial and palate alterations. (genomeweb.com)
  • Analysis of syndromic DNA using an oligonucleotide microarray (Agilent 4 x 180K) demonstrated the characteristic deletion in 15q11.2-q13 (chromosome 15) found in patients with Prader-Willi syndrome. (enzolifesciences.com)
  • [ 1 ] They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. (medscape.com)
  • Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. (medscape.com)
  • A large deletion several megabases (Mb) in length, easily detected using conventional chromosome analysis, is usually associated with severe phenotypic expression, including multiple malformations. (medscape.com)
  • Factors involved in prediction of prognosis include the extent of the deletion, the occurrence of complex chromosome anomalies, and the severity of seizures. (medscape.com)
  • Prenatal diagnosis of a fetus with chromosome 18p deletion and duplication]. (cdc.gov)
  • The most common translocation that causes this condition fuses part of the PDGFRB gene from chromosome 5 with part of the ETV6 gene from chromosome 12, written as t(5;12)(q31-33;p13). (medlineplus.gov)
  • This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. (nih.gov)
  • Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. (semanticscholar.org)
  • Other changes in chromosome 4 can involve a ring structure or translocation. (medscape.com)
  • In a balanced translocation, genetic material is exchanged with material from another nonhomologous chromosome, and the chromosome count is maintained at 46. (msdmanuals.com)
  • this is an unbalanced translocation, resulting in a chromosome count of 45. (msdmanuals.com)
  • Purifying selection - that removes harmful mutations - acting on many sites of the Y chromosome, resulted in a population of Y chromosomes as similar to one another as the the Y chromosomes we observed in the real human data. (pandasthumb.org)
  • Instead of mutations occurring in individual genes, this yeast can mutate by reorganizing their chromosomes and make extra copies of large chromosome pieces. (wellnessresources.com)
  • This achievement by an international team of genetic researchers is expected to open the door to significant insights in how variants and mutations in the Y chromosome are involved in various diseases and health conditions. (darkdaily.com)
  • This breakthrough will make it possible for other research teams to gain further understanding of the functions of the Y chromosome and how specific gene variants and mutations contribute to specific health conditions and diseases. (darkdaily.com)
  • By analysing the DNA of 78 children with this condition, they found that 9% had mutations affecting a specific part of another gene called Wilms' Tumor 1 (WT1), that is located not on a sex chromosome, but on one of the other 22 chromosome pairs. (pasteur.fr)
  • To test their findings, the researchers experimentally altered the WT1 gene in mice to mimic one of the human mutations. (pasteur.fr)
  • A number of scientific papers have been published indicating that LSD might cause structural changes in the chromosomes, genetic mutations, disturbances of embryonic development, and malignant degeneration of cells. (druglibrary.net)
  • This striking value is reported in the first-ever direct measure of new mutations coming from mother and father in whole human genomes. (uncommondescent.com)
  • Finding new mutations is extremely technically challenging as, on average, only 1 in every 100 million letters of DNA is altered each generation. (uncommondescent.com)
  • More specifically, the team of Canadian researchers led by Dr. Philip Awadalla discovered the following: the segments of the human genome that don't recombine as often as others also tend to carry a significantly greater proportion of the more disease-enabling genetic mutations. (sciencedaily.com)
  • Until chromosome recombination eventually occurs, these segments accumulate more and more bad mutations. (sciencedaily.com)
  • It also tells scientists more precisely where to look in the human genome to find disease-enabling mutations, he adds, which should speed up the discovery and identification of mutations associated with specific diseases. (sciencedaily.com)
  • This finding suggested that metastaticcapability was the result of genetic changes occurring after the cellsbecame tumorigenic, that at least some of these later mutations occurredon chromosome 6, and that one or more metastasis-suppressor genes mightbe located on chromosome 6 or regulated by genes on that chromosome. (cancernetwork.com)
  • Therefore, it is important to systematically define the epigenetic abnormalities that hESCs and hiPSCs carry, to understand how and when the epigenetic instability of the X chromosome arises during the derivation of these cells, to define the consequences if the different X chromosome states for differentiation, and to find ways to overcome the epigenetic instability. (ca.gov)
  • The genetic controversy about LSD started in 1967 when Cohen, Marinello and Back (22) published a paper suggesting that LSD should be added to the list of substances capable of causing abnormalities in the chromosomes. (druglibrary.net)
  • This advanced technique uses two or more fluorescent dyes to stain chromosomes in order to detect abnormalities. (go.jp)
  • Comparative genomic hybridization (aCGH) is a powerful diagnostic tool for detecting DNA copy number gains and losses associated with chromosome abnormalities. (enzolifesciences.com)
  • Abnormalities that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect. (msdmanuals.com)
  • We just had a paper published over at PLoS Genetics entitled, "Natural selection reduced diversity on human Y chromosomes. (pandasthumb.org)
  • About 1.5 million men in northern China and Mongolia may be descended from a single man, according to a study based on Y chromosome genetics 1 . (bioedonline.org)
  • The study published in this month's American Journal of Human Genetics suggests it was a good strategy for reproductive success. (bioedonline.org)
  • This kind of male reproductive advantage is perhaps a more important feature of human genetics than we thought," says Chris Tyler-Smith, at the Wellcome Trust Sanger Institute in Hinxton, UK, who led both studies. (bioedonline.org)
  • Understanding the underlying cause of sexual differences could help make it easier to identify hard to diagnose conditions and help families and doctors make more informed treatment and management decisions," says Anu Bashamboo, group leader of the Unit of Human Developmental Genetics, at the Institut Pasteur, Paris. (pasteur.fr)
  • The team's findings , published in the American Journal of Human Genetics on Thursday, highlighted significant ties between chromosome 22q11.2 regions and eight continuous traits as well as nine binary traits, including measurements related to body size or composition, calcium levels, cardiomegaly, dental cavities, hypotension, hearing loss, and other traits. (genomeweb.com)
  • Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants. (genomeweb.com)
  • Yousin Suh, associate professor of medicine and genetics at Einstein and a lead author on the paper, said: "Our findings suggest that telomere length and variants of telomerase genes combine to help people live very long lives, perhaps by protecting them from the diseases of old age( ref ). (anti-agingfirewalls.com)
  • Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). (medlineplus.gov)
  • Several forms of motor dysfunction are results from the presence of one extra chromosome present universally in persons with DS. (bvsalud.org)
  • Translocations involving chromosome 12 are involved in a type of blood cell cancer called PDGFRB -associated chronic eosinophilic leukemia. (medlineplus.gov)
  • The breakpoints of deletions and translocations in the proximal chromosome 14q region were defined in nine patients, four of whom have not been reported previously. (nih.gov)
  • The most frequent events reshaping chromosomes were translocations of chromosomal arms. (wellnessresources.com)
  • We examined the intakes of these B vitamins and their food sources in relation to the frequency of chromosome translocations as a biomarker of cumulative DNA damage, in eighty-two male airline pilots. (cambridge.org)
  • Translocations in peripheral blood lymphocytes were scored by using fluorescence in situ hybridisation whole-chromosome painting. (cambridge.org)
  • During her training in Japan, Dr. Burdo mastered the FISH (Fluorescence In Situ Hybridization) technique for analyzing chromosome aberrations in mice. (go.jp)
  • Since the rate of chromosome aberrations increase in relation to an increase in the amount of radiation exposure, the chromosome aberration value can be used to determine how much individual sample has been exposed to radiation. (go.jp)
  • Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)
  • Therian female mammalian cells have two X chromosomes, while males have only one, requiring X-chromosome inactivation (XCI) for sex-chromosome dosage compensation. (wikipedia.org)
  • In eutherians, XCI is the random inactivation of one of the X chromosomes, silencing its expression. (wikipedia.org)
  • Complete XCR restores the Xi to Xa and erases the epigenetic memory of XCI, meaning that inducing X-inactivation again will randomly select an X chromosome to silence, rather than deterministically silencing the original Xi. (wikipedia.org)
  • This finding suggested, independently to two groups of investigators, that one of the X chromosomes underwent inactivation. (wikipedia.org)
  • In 1961, Mary Lyon proposed the random inactivation of one female X chromosome to explain the mottled phenotype of female mice heterozygous for coat color genes. (wikipedia.org)
  • In mice, Xi reactivation is known to occur in three developmental stages: In the oocyte after fertilization, the paternal X chromosome is reactivated, reversing male meiotic sex chromosome inactivation (MSCI). (wikipedia.org)
  • In placental mammals, dosage compensation occurs by silencing one X-chromosome in female cells, a process known as X-chromosome inactivation. (ca.gov)
  • Our findings define the relationship between different X-inactivation states in female hESCs and demonstrate the consequences of different X-inactivation states for hESC differentiation. (ca.gov)
  • In mammals this involves upregulation of dosage sensitive X-linked genes, and inactivation of one X chromosome in every female somatic cell. (erasmusmc.nl)
  • X chromosome inactivation (XCI) is regulated by the X-linked X inactivation centre (Xic). (erasmusmc.nl)
  • The X,t(Y;22) female lacks the ZFY gene but does not exhibit the complex phenotype known as Turner's syndrome, arguing against the hypothesis that ZFY is the Turner's syndrome gene on the Y chromosome. (nih.gov)
  • A new UCLA study has identified a gene on the Y chromosome that protects against pulmonary hypertension - a rare but fatal disease that occurs four times more often in women than men. (uclahealth.org)
  • X chromosome reactivation (XCR) is the process by which the inactive X chromosome (the Xi) is re-activated in the cells of eutherian female mammals. (wikipedia.org)
  • To this end, our goal is to understand how the inactive X chromosome is regulated in human pre-implantation embryos, during derivation of hESCs from blastocysts, and during their maintenance. (ca.gov)
  • Moreover, we have started to assess strategies that would prevent the instability of the inactive X chromosome and allow normal dosage compensation upon differentiation of hESCs. (ca.gov)
  • Moreover, we have developed a strategy that erases the instability of the inactive X chromosome and enables faithful X chromosome dosage compensation in differentiating hESCs and hiPSCs, which is critical for the use of these cells in regenerative medicine, disease studies, and basic research. (ca.gov)
  • Researchers at the Department of Energy's Joint Genome Institute in Walnut Creek, California, have decoded in draft form the genetic information on human chromosomes 5, 16 and 19. (sciencedaily.com)
  • April 13, 2000 -- U.S. Secretary of Energy Bill Richardson announced today that researchers at the Department of Energy's Joint Genome Institute in Walnut Creek, California, have decoded in draft form the genetic information on human chromosomes 5, 16 and 19. (sciencedaily.com)
  • The three chromosomes sequenced by Department of Energy researchers contain more than 300 million base pairs, or an estimated 11 percent of the total human genome. (sciencedaily.com)
  • To date the researchers have sequenced a working draft of the three chromosomes, leaving some scattered gaps in less gene-rich areas. (sciencedaily.com)
  • Institute researchers will continue to improve both the completeness and accuracy of the genetic information as they produce the final sequence of the chromosomes over the next several years. (sciencedaily.com)
  • The information on chromosomes 5, 16 and 19 is available freely without restrictions to researchers in academia and industry through the public database, GenBank. (sciencedaily.com)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • The researchers compared the DNA sequences at numerous locations along the Y chromosome, finding close similarities among 3.3% of the men. (bioedonline.org)
  • After decades of attempts, genetic scientists led by the Telomere-to-Telomere Consortium -a team of researchers funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH)-have finally "generated the first truly complete sequence of a human Y chromosome," which is "the final human chromosome to be fully sequenced," of the 24 human chromosomes, SciTechDaily reported. (darkdaily.com)
  • The researchers published their findings in the journal Nature titled, " The Complete Sequence of a Human Y Chromosome . (darkdaily.com)
  • The researchers "applied new DNA sequencing technologies and sequence assembly methods, as well as knowledge gained from generating the first gapless sequences for the other 23 human chromosomes," SciTechDaily reported. (darkdaily.com)
  • We know that we share 98% of our DNA with our closest primate cousins, chimpanzees, but researchers have found a 30% difference in Y chromosome genetic material between chimp and human dudes. (uncommongoods.com)
  • Researchers at the Francis Crick Institute, the Institut Pasteur and their clinical collaborators have identified a cause of testicular tissue developing in people with female chromosomes. (pasteur.fr)
  • In this paper, published in Proceedings of the National Academy of Sciences USA, researchers looked into a complex condition where people with two X chromosomes, which is typical of females, have testicular tissue instead of ovaries, or gonads with a mixture of both. (pasteur.fr)
  • Researchers have developed a new technique for creating human embryonic stem cells by fusing adult somatic cells with embryonic stem cells. (news-medical.net)
  • The researchers said that -- while the technique might one day be used along with SCNT, which involves the use of unfertilized human eggs -- technical hurdles must be cleared before the new technique sees widespread use. (news-medical.net)
  • The researchers published their findings in the August 26, 2005, issue of the journal Science . (news-medical.net)
  • In the studies published in Science, the researchers combined human fibroblast cells with human embryonic stem cells in the presence of a detergent-like substance that caused the two cell types to fuse. (news-medical.net)
  • The researchers also performed fusion experiments using pelvic bone cells as the somatic cells and a different human embryonic cell line, to demonstrate that their technique was not restricted to one adult cell type or embryonic cell line. (news-medical.net)
  • In the new study, published in the American Journal of Respiratory and Critical Care Medicine, researchers aimed to further understand how the Y chromosome confers protection against the disease. (uclahealth.org)
  • To conduct the experiment, which was done in mice, researchers silenced each gene, one by one, in the Y chromosome to tease out which gene is linked to the development of pulmonary hypertension. (uclahealth.org)
  • Dr. Cunningham hopes these findings will inspire researchers to study both male and female animals, cell lines, or human subjects to determine how diseases progress in different sexes. (uclahealth.org)
  • Combining data about the abnormal timing with other signs that something has gone wrong (such as fragmented DNA and asymmetrical cell sizes within a developing embryo) could reliably show which cells have the right number of chromosomes and which don't, the researchers report. (livescience.com)
  • Researchers have long thought that perhaps humans have so many problems because women's eggs degrade with age, Pera said. (livescience.com)
  • For researchers who wish to convert T/S ratio to base pairs (bp), the formula is (3,274 + 2,413 * (T/S)). The conversion from T/S ratio to bp is calculated based on comparison of telomeric restriction fragment (TRF) length from Southern blot analysis and T/S ratios using DNA samples from the human diploid fibroblast cell line IMR90 at different population doublings. (cdc.gov)
  • it contains instructions for making all the protein molecules for all the different kinds of cells of the human body - neurons in the brain, red blood cells, bone tissue, liver cells, etc. (sciencedaily.com)
  • The Lyon hypothesis also accounted for the findings that one copy of the X chromosome in female cells was highly condensed, and that mice with only one copy of the X chromosome developed as infertile females. (wikipedia.org)
  • This suggested to Ernest Beutler, studying heterozygous females for glucose-6-phosphate dehydrogenase (G6PD) deficiency, that there were two red cell populations of erythrocytes in such heterozygotes: deficient cells and normal cells, depending on whether the inactivated X chromosome (in the nucleus of the red cell's precursor cell) contains the normal or defective G6PD allele. (wikipedia.org)
  • Chromosome 12 spans almost 134 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. (medlineplus.gov)
  • Cells normally have two copies of each chromosome, one inherited from each parent. (medlineplus.gov)
  • In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. (medlineplus.gov)
  • These cells have a total of four copies of all the genes on the p arm of chromosome 12. (medlineplus.gov)
  • Inhibition of SCAMP1 suppresses cell migration and invasion in human pancreatic and gallbladder cancer cells. (nih.gov)
  • Unlike female mouse embryonic stem cells (ESCs), which possess two active X chromosomes and undergo XCI upon induction of differentiation, female human ESCs exhibit various epigenetic states of the X chromosome, indicating a surprising epigenetic instability of these cells under normal culturing conditions. (ca.gov)
  • Together, our findings reveal new insights into the relationship between different X chromosome states in undifferentiated female human ESCs, clarify how they arise during ESC derivation, and define the implications of these X chromosome status for differentiated cells. (ca.gov)
  • The application of human embryonic stem cells (hESCs) requires reliable cell sources that do not change over time and initiate proper transcriptional and chromatin changes upon induction of differentiation. (ca.gov)
  • Human embryonic stem cells (hESCs) are able to divide indefinitely and under the proper conditions, can essentially become any cell in the human body. (ca.gov)
  • Most informative is the small Y chromosome, holed up in the cells of every man, and relatively resistant to change. (bioedonline.org)
  • The fusion causes the adult cells to undergo genetic reprogramming, which results in cells that have the developmental characteristics of human embryonic stem cells. (news-medical.net)
  • This approach could become an alternative to somatic cell nuclear transfer (SCNT), a method that is currently used to produce human stem cells. (news-medical.net)
  • The scientists knew that if their studies were successful, it would provide the research community with a new option for producing reprogrammed cells using embryonic stem cells, which are more plentiful and easier to obtain than unfertilized human eggs. (news-medical.net)
  • Their analyses showed that the hybrid cells were "tetraploid" - meaning they contained the combined chromosomes of both the somatic cells and the embryonic stem cells. (news-medical.net)
  • One of the key findings from the study was that the fusion cells have the characteristics of human embryonic stem cells. (news-medical.net)
  • With the exception of a few genes one way or the other -- which is perhaps because these cells are now tetraploid -- the hybrid cells are indistinguishable from human embryonic stem cells," he said. (news-medical.net)
  • 22) * After my arrival in the United States, I participated in a major study concentrating on structural changes of the chromosomes in the white blood cells following LSD administration. (druglibrary.net)
  • The first group includes papers describing structural changes of the chromosomes produced by LSD in vitro , ** in these experiments various concentrations of LSD are added to cultures of cells from human, animal, or plant tissues in a test-tube. (druglibrary.net)
  • The cells studied were in most cases human white blood cells (lymphocytes). (druglibrary.net)
  • Common Weed Could Provide Clues On Aging And Cancer - - A common weed and human cancer cells could provide some very uncommon details about DNA structure and its relationship with telomeres and how they affect cellular aging and cancer, according to a team led by scientists from Texas A&M University and the University of Cincinnati (UC). (anti-agingfirewalls.com)
  • The Cincinnati team then showed that removal of one of the human proteins from human cancer cells caused wide-spread DNA damage and complete loss of some telomeres. (anti-agingfirewalls.com)
  • The quest to understand the workings of human cells will not be over until we understand how this genetic blueprint is used to produce a particular set of proteins - the proteome - for each type of cell and how these proteins control the physiology of the cell. (learner.org)
  • In mammals female cells have two X chromosomes, whereas male cells carry an X and Y chromosome. (erasmusmc.nl)
  • By watching the timing of the cells' development, doctors could determine which cells are genetically healthy, and which have abnormal numbers of chromosomes, finds the study published today (Dec. 4) in the journal Nature Communications. (livescience.com)
  • Often, DNA-containing cell fragments will fuse with other cells in the embryo, transferring extra chromosomes to those cells. (livescience.com)
  • About 75 percent, or 34 of the 45 cells surviving to the zygote stage, had the wrong number of chromosomes. (livescience.com)
  • In addition, overexpression of miR‑497 was observed to inhibit colony formation and tumor growth in MHCC‑97H human HCC cells. (spandidos-publications.com)
  • Conversely, SMMC‑7721 human HCC cells transfected with a miR‑497 inhibitor exhibited enhanced colony formation and tumor growth. (spandidos-publications.com)
  • Senior study investigator Robert Siliciano, M.D., Ph.D., who in 1995 first showed that reservoirs of dormant HIV were present in immune cells, says that while the latest study results show most proviruses in the latent reservoir are defective, curing the disease will depend on finding a way to target all proviruses with the potential to restart the infection. (hopkinsmedicine.org)
  • Further lab experiments on the cloned proviruses showed that the intact, non-induced proviruses could be reconstructed to produce active virus, which in turn could replicate in human immune cells. (hopkinsmedicine.org)
  • Loss of the Y chromosome does not occur in male reproductive cells, so it is not inherited by the children of men who exhibit Y chromosome loss. (neurosciencenews.com)
  • A new gene, designated KiSS-1, has been isolated from cells of malignant melanoma, in which metastatic potential was suppressed by the introduction of normal human chromosome 6. (cancernetwork.com)
  • [ 3 ] Taken together, these findings have led some to speculate that LCH is not a specific disease of epidermal Langerhans cells, but rather one of mononuclear phagocyte dysregulation. (medscape.com)
  • We are using the yeast model organism Saccharomyces castellii, which has telomere traits and telomerase activity that are highly similar to human cells. (lu.se)
  • With the draft genomic sequence for human chromosome 14 available, gene searches were performed on selected intervals of the 14q11.2-q21 region to identify candidate genes for the observed phenotype in some of those affected. (nih.gov)
  • The full Y chromosome sequence "fills in gaps across more than 50% of the Y chromosome's length, [and] uncovers important genomic features with implications for fertility, such as factors in sperm production," SciTechDaily noted. (darkdaily.com)
  • When you find variation that you haven't seen before, the hope is always that those genomic variants will be important for understanding human health," said Adam Phillippy, PhD, a senior investigator and head of the Genome Informatics Section at the National Human Genome Research Institute, in a press release. (darkdaily.com)
  • Nonetheless, phenotype-genotype correlations suggest that two or more genetic elements in interval 1A may contribute to the sex-determining function of the Y chromosome. (nih.gov)
  • Figure 1: Phenotype and fine mapping of ARWH on chromosome 13q14.2-14.3. (nature.com)
  • The core phenotype maps within the terminal 1.9 Mb region of chromosome 4p. (medscape.com)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 12. (medlineplus.gov)
  • Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. (medlineplus.gov)
  • As humans procreate, generation after generation, the exchange of genetic material between man and woman causes our species to evolve little by little. (sciencedaily.com)
  • The chromosomes contain an estimated 10-15,000 genes, including those whose defects may lead to genetically linked diseases such as certain forms of kidney disease, prostate and colorectal cancer, leukemia, hypertension, diabetes and atherosclerosis. (sciencedaily.com)
  • Disease-linked genes on this chromosome include those for colorectal cancer, basal cell carcinoma, acute myelogenous leukemia, salt-resistant hypertension and a type of dwarfism. (sciencedaily.com)
  • Studies have implicated genes on this chromosome in the development of breast and prostate cancer, Crohn's disease and adult polycystic kidney disease, which affects an estimated five million people worldwide. (sciencedaily.com)
  • Changes in chromosome 12 have been identified in several types of cancer. (medlineplus.gov)
  • 1993. y2u-Globulin-mediated male rat nephropathy and kidney cancer: relevance to human risk assessment. (cdc.gov)
  • Characterization of a cell line from human transitional cell cancer of the urinary tract. (wikidata.org)
  • Recently, an increasing number of studies have revealed that microRNA-497 (miR-497) levels are decreased in tumors, and that it functions as a tumor suppressor in a number of types of human cancer, including colorectal, gastric, cervical and breast cancers, adrenocortical carcinoma and melanoma ( 12 - 20 ). (spandidos-publications.com)
  • These findings show that chromothripsis is a major process that drives genome evolution in human cancer. (lu.se)
  • Cancer has been in existence longer than human beings, and man has been facing the illness ever since he made his appearance on Earth. (jcancer.org)
  • Amazingly, the first human cancer gene was cloned only thirty years ago. (jcancer.org)
  • The scientific path taken to understand cancer is paved with thousands of theories and scientific findings, from the time of Hippocrates to genomics today. (jcancer.org)
  • Considering the past, and reviewing the milestones of every scientific finding could help in molding future experimental approaches in cancer research. (jcancer.org)
  • Cancer has been in existence on Earth even before the appearance of man, as evidenced by paleontological findings of tumors in animals ( 1 , 2 ). (jcancer.org)
  • The first description of human cancer can be found in the Edwin Smith Papyrus dated 3000 BC that illustrated a case of breast cancer. (jcancer.org)
  • IC à 95 % : 1,4-5,0) était significativement associé à un risque accru de cancer, et ce risque était même supérieur en présence d'un tabagisme paternel important. (who.int)
  • Finding components that can act as inhibitors of this elongation will provide a general treatment that will be applicable to most cancer types. (lu.se)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • The collaborative study focused on 44 targets, which together cover about 1 percent of the human genome sequence, or about 30 million DNA base pairs. (nih.gov)
  • But during mating, the Y pairs up with the X, a giant chromosome by comparison and a poor fit for gene swapping. (bioedonline.org)
  • Humans have 23 pairs of chromosomes, but genetic accidents can alter that number, a condition called aneuploidy. (livescience.com)
  • It is known that in the inner cell mass (the embryo proper) of mice, XCI occurs randomly, while in the extra-embryonic tissues, imprinted XCI deterministically inactivates the paternal X. In early mouse embryos, the paternal X chromosome is already partially silenced at the zygote stage by imprinted XCI, suggesting that sex-chromosome dosage compensation exists from conception. (wikipedia.org)
  • The fourth group consists of publications describing the consequences of LSD administration on the growth, development and differentiation of human and animal embryos. (druglibrary.net)
  • Time-lapse images of human embryos in the first two days of development. (livescience.com)
  • Extra or missing chromosomes are shockingly common, affecting up to 75 percent of all embryos, studies find. (livescience.com)
  • They took 75 human embryos that had been frozen at the single-cell phase and cultured them in Petri dishes for two days, taking a microscopic snapshot of each embryo every five minutes. (livescience.com)
  • We first ran statistical models that let us alter the number of males and females that contributed their genomes (the non-sex chromosomes, chromosome X, chromosome Y, and mtDNA ) to the next generation. (pandasthumb.org)
  • Chromosomes from the mother and the father recombine to create the chromosomes of their child (chromosomes are the larger building blocks of genomes). (sciencedaily.com)
  • They are derived from the developing human embryo and carry great promise for regenerative medicine. (ca.gov)
  • In this case, the females have two X chromosomes (XX) and males, XY. (nbcnews.com)
  • When this change was introduced into mice with two X chromosomes, which normally develop as females, these developed signs of male development. (pasteur.fr)
  • The Department of Energy began the Human Genome Project in 1986 to map and determine the complete DNA sequence of the human genome. (sciencedaily.com)
  • The completion of the Human Genome Project in April 2003 was a major achievement, but the sequencing of the genome marked just the first step toward the goal of using such information to diagnose, treat and prevent disease. (nih.gov)
  • The result was thanks to years of work through the preferred " chain termination " (aka, Sanger Sequencing) method developed by Fred Sanger and a $2.7 billion contribution from the Human Genome Project , according to a study published in the African Journal of Laboratory Medicine ( AJLM ). (darkdaily.com)
  • Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. (medlineplus.gov)
  • Recent research shows that adolescent growth spurts in body length and weight occur in various primate species, not just humans, and suggests that previous misunderstandings were due to methodological errors. (scitechdaily.com)
  • Apparently, this yeast can generate a new chromosome by duplication of chromosome segments carrying a centromere and subsequently adding novel telomeric ends. (wellnessresources.com)
  • Then, known segments of the marked chromosomes (which can contain very small fragments of DNA) are cloned in plasmids . (learner.org)
  • Chromosomes recombine frequently in some segments of the genome, while recombination is less frequent in others. (sciencedaily.com)
  • Mouse chromosomes stained using the FISH technique, viewed with a fluorescence microscope. (go.jp)
  • Application analysis of noninvasive prenatal testing for fetal chromosome copy number variations in Chinese laboratories]. (cdc.gov)
  • Novel chromosomes and loss of chromosomes are infrequent and usually associated with pathological events. (wellnessresources.com)
  • Among the most notable findings was the infrequent use of the most important influenza prevention measure - vaccination. (cdc.gov)
  • Getting a precise date for the origin of the chromosome is difficult, say geneticists, and pinning it to a historical figure is even less exact. (bioedonline.org)
  • This surprising finding suggests that Y chromosomes hold more mysteries for geneticists. (uncommongoods.com)
  • Therefore, it is important to understand how and when aberrancies such as the epigenetic instability of the X chromosome arise, and to define their consequences for differentiation processes and the differentiated progeny. (ca.gov)
  • The expression of PAX5 in human transitional cell carcinoma of the bladder: relationship with de-differentiation. (wikidata.org)
  • We previously localized a Quantitative Trait Locus for HPFH in an extensive Asian-Indian kindred to chromosome 6q23. (biomedcentral.com)
  • These findings suggest a locus for myelofibrosis at chromosome 14q13. (nih.gov)
  • Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. (semanticscholar.org)
  • In 2001 two rival teams jointly announced the completion of a draft sequence of the entire human genome, consisting of more than three billion nucleotides. (learner.org)
  • More recent research suggests that the Y chromosome is actually a hotbed of evolution. (uncommongoods.com)
  • UVA researcher Kenneth Walsh, Ph.D., says the new discovery suggests that men who suffer Y chromosome loss-estimated to include 40% of 70-year-olds-may particularly benefit from an existing drug that targets dangerous tissue scarring. (neurosciencenews.com)
  • The findings challenge the traditional view of our genetic blueprint as a tidy collection of independent genes, pointing instead to a complex network in which genes, along with regulatory elements and other types of DNA sequences that do not code for proteins, interact in overlapping ways not yet fully understood. (nih.gov)
  • This could have significant implications for efforts to identify the DNA sequences involved in many human diseases. (nih.gov)
  • Although the gene sequences were well conserved among different strains, their chromosome structures differed drastically. (wellnessresources.com)
  • It could have been very chaotic, but instead, nearly half of the chromosome is made of alternating blocks of two specific repeating sequences known as satellite DNA . (darkdaily.com)
  • Dulbecco also argued that such a project should be "an international undertaking, because the sequence of the human DNA is the reality of the species, and everything that happens in the world depends upon those sequences. (learner.org)
  • I intend to use the skills I have acquired to analyze the chromosomes of mice living in the Chornobyl exclusion zone. (go.jp)
  • or each of these agents, carcinogenicity in rats and/or mice, els, differences in exposure con- there was sufficient evidence of car- for example for the liver (aflatoxins, ditions between studies in animals cinogenicity from studies in rats and/ trichloroethylene [TCE], and vinyl and in humans, or limitations in Part 1 · Chapter 1. (who.int)
  • Telomeres are a protective nucleoprotein structure at each chromosome end. (cdc.gov)
  • The telomeres are the DNA-protein structures at the ends of eukaryotic chromosomes, which serve to protect and stabilize the genome. (lu.se)
  • Details about the chromosomes' draft sequence are expected to be published this summer as part of scientific articles describing the entire draft sequence. (sciencedaily.com)
  • Core genome multilocus sequence typing tree and relevant information for investigation of chromosome-borne CTX-M-65 extended-spectrum β-lactamase-producing Salmonella enterica serovar Infantis, Taiwan. (cdc.gov)
  • Having the human genome sequence is similar to having all the pages of an instruction manual needed to make the human body. (nih.gov)
  • The human Y chromosome now has a full and complete sequence. (darkdaily.com)
  • Twenty years ago the first human genome sequence was completed. (darkdaily.com)
  • Nevertheless, more than half of the Y chromosome sequence was still unknown until the new findings from the T2T study, SciTechDaily reported. (darkdaily.com)
  • In 1986 Nobel laureate Renato Dulbecco laid down the gauntlet to the scientific community to sequence the complete human genome. (learner.org)
  • The capstone, of course, was the completion of the human genome sequence. (learner.org)
  • It requires not only finding the nucleotide sequence of small pieces of the genome, but also ordering those small pieces together into the whole genome. (learner.org)
  • Most phenotypic manifestations in this syndrome reflect a contiguous gene syndrome, leading to a phenotypic map of chromosome arm 4p. (medscape.com)
  • Early in the study of XCI in early embryonic development, the original state of the two X chromosomes and the mechanism by which they differentiated into the Xa and Xi was unknown. (wikipedia.org)
  • The other, favored hypothesis that was eventually validated was that both maternal and paternal X chromosomes are active until some mechanism inactivates one chromosome. (wikipedia.org)
  • It includes a small number of papers dealing with the detailed mechanism of the action of LSD on the deoxyribonucleic acid (DNA), the most important constituent of the chromosomes. (druglibrary.net)
  • Since this epigenetic variation could have implications for the use of female human ESCs in regenerative medicine, disease studies, and basic research, in this proposal, we are aiming to determine how the epigenetic variability of the X chromosome arises during derivation and maintenance of human ESCs, the causes and consequences of deregulation of XCI in human ESCs, and to devise methods of stabilizing Xist expression in human ESCs. (ca.gov)
  • The findings from our study have implications for the utilization and quality assessment of human ESCs. (ca.gov)
  • Each parent contributes one set of 23 chromosomes to offspring, resulting in little ones with 23 father-given chromosomes and 23 mother-chromosomes - 46 total. (nbcnews.com)
  • In eukaryotes, the number and rough organization of chromosomes is well preserved within isolates of the same species. (wellnessresources.com)
  • However, a recent study published in the journal eLife indicates that many primate species , including humans, actually experience a growth spurt in body weight during adolescence. (scitechdaily.com)
  • Many animal species employ sex chromosomes to determine sex and start gender specific gene expression programs. (erasmusmc.nl)
  • Our results reveal important principles about the organization of functional elements in the human genome, providing new perspectives on everything from DNA transcription to mammalian evolution. (nih.gov)
  • Clinical laboratories and anatomic pathology groups may soon have new assays based on the T2T study findings. (darkdaily.com)
  • Clinical impact of molecular and cytogenetic findings in synovial sarcoma. (nih.gov)
  • Even so, they cautioned that many prior studies of 22q11.2 variation have centered on clinical cohorts comprised of individuals with particularly pronounced symptoms or phenotypes, "leading to an incomplete and biased understanding of these variants' role in the human population. (genomeweb.com)
  • Only Genghis Khan's Y chromosome approaches the prevalence of Giocangga's, popping up in about 2.5% of the men, says Tyler-Smith. (bioedonline.org)
  • Smaller and stumpier than the X chromosomes shared by men and women, the Y has been passed along through generations of male mammals for millions of years. (uncommongoods.com)
  • The protein-coding component of these genes makes up just a small fraction of the human genome - 1.5 percent to 2 percent. (nih.gov)
  • The targets were strategically selected to provide a representative cross section of the entire human genome. (nih.gov)