These loci resided on chromosomes 13, 16, and 20. The present GWAS and meta-analysis is the largest genetic study on PUV ... These loci resided on chromosomes 13, 16, and 20. The present GWAS and meta-analysis is the largest genetic study on PUV ... Here, we report the largest genome-wide association study (GWAS) for PUV in 4 cohorts of patients and controls. The final meta- ... Here, we report the largest genome-wide association study (GWAS) for PUV in 4 cohorts of patients and controls. The final meta- ...

Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, ... Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, ... like the possibility to study individual cells and even individual chromosomes. Different variants of FISH can be used to ... like the possibility to study individual cells and even individual chromosomes. Different variants of FISH can be used to ...

I will reveal to you some very interesting connections between telomeres and human health. I hope, by the end of this article, ... In human cells, for example, there are 23 pairs of chromosomes that contain all of our DNA. These chromosomes are located in ... DNA, Chromosomes, And Replication. Every living cell contains structures called chromosomes. Each chromosome contains a polymer ... Lessons From Telomeres-How to Improve Human Health. When I was working on telomere maintenance and telomerase in human cells at ...

At the level of human exposure, ATZ reduces sperm count and contribute to infertility in men. ATZ also induces morphological ... At the level of human exposure, ATZ reduces sperm count and contribute to infertility in men. ATZ also induces morphological ... 1992) reported little chromosome damage in human lymphocytes exposed to 0.005 µM (0.001 μg/mL) ATZ concentrations. ATZ did not ... This appears rationale to assume because human adrenocortical (H295R) and human breast cancer (MCF-7) cell lines which also ...

... and enzyme activity in postmortem human brain. Am J Human Genet. (2004) 75:807-21. doi: 10.1086/425589 ... Plot demonstrates consistency for predicted and reported sex, using Chromosome X and Y median intensity. ... Horvath S. DNA methylation age of human tissues and cell types. Genome Biol. (2013) 14:R115. doi: 10.1186/gb-2013-14-10-r115 ... The studies involving human participants were reviewed and approved by Institutional Review Board (IRB) of the Walter Reed Army ...

Liu H, Zhang C-X, Ma Y, He H-W, Wang J-P, Shao R-G. SphK1 Inhibitor SKI II Inhibits the Proliferation of Human Hepatoma HepG2 ... inhibitor of the constitutively active Bcr-Abl tyrosine kinase and is used to treat leukemia with the Philadelphia chromosome ( ... FTY720 Induced Bcl-Associated and Fas-Independent Apoptosis in Human Renal Cancer Cells In Vitro and Significantly Reduced In ... Liu L, Liu J, Wang H, Zhao H, Du Y. Fenretinide Targeting of Human Colon Cancer Sphere Cells Through Cell Cycle Regulation and ...

Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemia. Nat ... Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol (2020) 40(1):66-81. doi: ... Chromosome breakage analysis may be a gold standard test, which is, nonetheless, not widely applied due to its false-negative ... The studies involving human participants were reviewed and approved by The Medical Ethics Committee of Tongji Hospital, Tongji ...

Decitabine-Induced Changes in Human Myelodysplastic Syndrome Cell Line SKM-1 Are Mediated by FOXO3A Activation. J Immunol Res ( ... chromosome karyotype and peripheral blood cell reduction (10). The IPSS system has become one of the most commonly used ... MDS is still one of malignant diseases of human blood system, which is characterized by ineffective hematopoiesis of the bone ... CD49f Acts as an Inflammation Sensor to Regulate Differentiation, Adhesion, and Migration of Human Mesenchymal Stem Cells. Stem ...

77] studied the effects on the repair time of chromosome breaks induced by X-rays delivered at a dose rate of 4.5 × 108 Gy/s. ... 112] irradiated human vein endothelial cells with laser-driven protons and found that laser-driven proton beams, at a dose rate ... Prempree T, Michelsen A, Merz T The repair time of chromosome breaks induced by pulsed x-rays on ultra-high dose-rate. Int J ... 46] for the first time used the clonogenic assay to determine the RBE of laser-driven protons using human salivary gland tumour ...

... due to deletions in the chromosome region 22q11 involving the candidate gene TBX1, however microdeletions on chromosome 10 ( ... Bae YJ, Kratzsch J. Vitamin D and calcium in the human breast milk. Best Pract Res Cl En. (2018) 32:39-45. doi: 10.1016/j.beem. ... Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med ... The homeostatic mechanisms by which phosphate concentrations are "sensed" in humans are not fully understood, though it is ...

For most of the listed genes, zebrafish-human orthologs are associated with human disease (marked D, Table 4). ... Specifically, genes located towards the "start" of the chromosome were less likely to be miRNA targets. Notably, none of the ... Examples from human families are partitioned by the prior rate for miRNA regulation of 75% (dashed line). The p-value for each ... miRNA regulation of human paralogs. (A) The count of protein family members (log2 scale) with the number of proteins belonging ...

... and in humans, methylation at birth has been associated with peri-conceptional micronutrient supplementation. However, directly ... and in humans, methylation at birth has been associated with peri-conceptional micronutrient supplementation. However, directly ... DNA methylation is the most commonly studied epigenetic mark in humans, as it is well recognised as a stable, heritable mark ... DNA methylation is the most commonly studied epigenetic mark in humans, as it is well recognised as a stable, heritable mark ...

... in the chemosensitivity of carotid bodies in Humans. ... in the chemosensitivity of carotid bodies in Humans. ... Genetics of human origin and evolution: high-altitude adaptations. Curr Opin Genet. (2016) 41:8-13. doi: 10.1016/j.gde.2016.06. ... HO-2 is a protein encoded by the HMOX2 gene carried by chromosome 16. A study on HMOX2 knockout mice thus showed a blunted ... 9. Moore LG, Armaza F, Villena M, Vargas E. Comparative aspects of high-altitude adaptation in human populations. Adv Exp Med ...

AS event is the mechanism of producing several mRNA variations from a single transcript (25, 26). Most human genes are ... The loss of ATMIN can cause chromosome segregation defects (37). The role of ATMIN in EC is much less clear, and whether ATMIN ... FIGURE 5. Figure 5 ROC curves estimated the predictive power of AA (A), AD (B), ES (C), whole (D), AP (E), AT (F), ME (G) and ... Splicing in AGS and MKN28 Human Gastric Cancer Cells. Med Sci Monit (2020) 26:e919460. doi: 10.12659/MSM.919460 ...

... published in the last 5 years.Results and conclusionsIn GCC countries there is a high prevalence rate of MDR Enterobacterales, ... Regionally, Qatar has achieved nationwide implementation of three of the five indicators in the human health sector. Kuwait, ... Resistance genes can be transferred between chromosomes and plasmids via mobile genetic elements, such as insertion sequences, ... the order of Enterobacterales consists of Gram-negative bacilli that predominantly colonize the human gastro-intestinal tract. ...

To take human organ generation via BC and transplantation to the next step, we reviewed current emerging organ generation ... To take this field of human organ generation and transplantation to the next step, we reviewed current emerging organ ... As an emerging field, the generation of chimeric human organ bioengineering via blastocyst complementation, and use of bio- ... In this regard, emerging technologies of chimeric human organ production via blastocyst complementation (BC) holds great ...

However, since the Illumina Human Methylation 450K BeadChip covers only about 2% of all the CpG sites in the human genome, we ... In addition, probes located on sex chromosomes and probes with many missing values were also filtered out. Then, the "noob" ... 2010). Pathogenesis of human systemic lupus erythematosus: recent advances. Trends Mol. Med. 16, 47-57. doi: 10.1016/j.molmed. ... 2Human Phenome Institute, Fudan University, Shanghai, China. *3Center for Precision Medicine Research, Marshfield Clinic ...

We argue that the observed process of chromosome sorting would, if continued, result in a new homozygous chromosomal race, i.e ... We argue that the observed process of chromosome sorting would, if continued, result in a new homozygous chromosomal race, i.e ... Here, we studied male meiotic chromosome behavior in four hybrid generations (F1-F4) between two chromosomal races of the Wood ... Here, we studied male meiotic chromosome behaviour in four hybrid generations (F1 to F4) between two chromosomal races of the ...

The nucleotide diversity per chromosome was calculated as the mean (πChrMean) and median (πChrMedian) of all πwindow values of ... 2017). Defining the human sperm microtubulome: An integrated genomics approach. Biol. Reprod. 96, 93-106. doi:10.1095/ ... When looking at the nucleotide diversity per chromosome, πChrMean values in DSN ranged between 0.134% on BTA 22 and 0.192% on ... Pryce, J. E., Hayes, B. J., Bolormaa, S., and Goddard, M. E. (2011). Polymorphic regions affecting human height also control ...

2 rare KISS1 variants in 6 girls and 2 rare MAGEL2 variants in 5 girls. Interestingly, the frequent variant rs10407968 (p. ... Y-Chromosome Phylogeographic Analysis of the Greek-Cypriot Population Reveals Elements Consistent With Neolithic and Bronze Age ... The studies involving human participants were reviewed and approved by Cyprus National Ethics Committee. Written informed ... Briefly, all variants were inputted into the VarApp Browser, filtered, and aligned to the human reference genome GRCh38.p12, ...

The studies involving human participants were reviewed and approved by Ethic committee Istituto Ortopedico Rizzoli IRCCS, ... chromosome rearrangements not yielding a fusion transcript, unusual breakpoints not covered by the assay or lack of primers ... The mean percentage of reads aligned to the human genome was 98.9% (range 96.4-99.7%); the mean proportion of reads aligned to ... about one third of all sarcomas presents pathognomonic chromosome rearrangements (translocations, deletions, insertions) that ...

Using a newly developed human neuronal cell model, derived from patient-induced pluripotent stem cells, we find that 2- ... Using a newly developed human neuronal cell model, derived from patient induced pluripotent stem cells, we find that 2- ... Structural snapshots of human HDAC8 provide insights into the class I histone deacetylases. Structure (2004) 12:1325-34. doi: ... H2AFY2 encodes a macroH2A protein that has been implicated in X chromosome inactivation, gene repression, and genomic ...

Chromosome mutations like deletions are seen in chromosome 22 in this syndrome (del22q13.3) (88, 89). This results in ... Novel human and mouse genes encoding a shank-interacting protein and its upregulation in gastric fundus of W/WV mouse. J ... Deletion of shank3 in humans is a monogenic cause of autism called Phelan-McDermid syndrome. One fourth of these patients ... Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum ...

Human genetic variation and its contribution to complex traits. Nat Rev Genet. (2009) 10:241-51. doi: 10.1038/nrg2554 ... Identification of a new susceptibility locus for systemic lupus erythematosus on chromosome 12 in individuals of European ... Taking into account that pleiotropic effects on human complex traits was widespread (23), it would be expected that in a list ... A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest. (2011) 121 ...

... coinciding with the emergence of modern humans themselves. Many assume as well that this is the result of a single, sudden ... coinciding with the emergence of modern humans themselves. Many assume as well that this is the result of a single, sudden ... 2013a). An African American paternal lineage adds an extremely ancient root to the human Y chromosome phylogenetic tree. Am. J ... Nordborg, M. (2004). "Were Neanderthals and anatomically modern humans different species," in Human Evolutionary Genetics, eds ...

WHO Laboratory Manual for the Examination and Processing of Human Semen. 5th Edn. Geneva: Geneva World Health Organization ( ... Y-chromosome micro-deletions, karyotype abnormalities), clinical infection of the urogenital tract, previous cancer treatments ... The studies involving human participants were reviewed and approved by the Ethics Committee of the Faculty of Medicine of the ... Trummer H, Habermann H, Haas J, Pummer K. The impact of cigarette smoking on human semen parameters and hormones. Hum Reprod. ( ...

In this investigation a human RCC tumor microarray (TMA) (n=374) predominantly consisting of the most common histological tumor ... In this investigation a human RCC tissue microarray (TMA) (n=374) predominantly consisting of the most common histological ... overall 5-year survival. Sixteen histological tumor subtypes exist and the most common are papillary, chromophobe and clear ... overall 5-year survival. Sixteen histological tumor subtypes exist and the most common are papillary, chromophobe and clear ...

Many human large intergenic noncoding RNAs associate with chromatin-modifying complexes and affect gene expression. Proc Natl ... RNF12 is an X-Encoded dose-dependent activator of X chromosome inactivation. Cell. (2009) 139:999-1011. doi: 10.1016/j.cell. ... Disruption of differentiation in human cancer: AML shows the way. Nat Rev Cancer. (2003) 3:89-101. doi: 10.1038/nrc989 ... LncRNAs Can Act as Epigenetic Drivers in Human Cancer. In contrast with other ncRNA species, e.g., microRNAs, which have been ...

... family dogs living in human families as pets (N=37), and (3) adopted dogs born in the kenneled population but raised in human ... kenneled dogs living in a restricted environment with limited human contact (N=78), (2) ... little is known about how kenneled dogs differ from their conspecifics living as pets in human families. In the current study, ... The chromosome localization, repeat structure and PCR primer sequences of the analyzed markers are summarized in Supplementary ...

Genes Chromosomes Cancer. (2016) 55:803-13. doi: 10.1002/gcc.22383. PubMed Abstract , CrossRef Full Text , Google Scholar ... Antonella Argentiero4 Oronzo Brunetti4† Nicola Silvestris4,5*†. *1Experimental Oncology-Center for the Study of Hereditary ... 4. Spizzo G, Puccini A, Xiu J, Goldberg RM, Grothey A, Shields AF, et al. Frequency of BRCA mutation in biliary tract cancer ... 5. Ong PY, Poon SL, Tan KT, Putti TC, Ow SGW, Chen SJ, et al. Using next- generation sequencing (NGS) platform to diagnose ...