Homo sapiens
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PROVIDER: PRJNA267074 | ENA |
REPOSITORIES: ENA
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Project description:Sacrocolpopexy has been dubbed the âgold standardâ repair for apical pelvic organ prolapse (POP). This study sought to determine a genetic cause for sacrocolpopexy failure by comparing genotypes from 10 women who suffered from early POP reoccurance after sacrocolpopexy surgery, versus 40 randomly selected women with long term success after the same procedure. We objectively defined early overt failure after robotic-assisted laparoscopic sacrocolpopexy as having a pelvic organ prolapse quantification system examination (POP-Q) of stage III or IV occurring in more than one compartment within six months after surgery. All medical records identified during this process were then reviewed by a panel of urogynecology attendings and fellows to select patients who were truly clinical outliers. By this method we identified 10 patients (cases) who experienced early overt surgical failure. We also randomly selected 40 controls from our research database which includes greater than 500 patients who underwent robotic-assisted laparoscopic sacrocolpopexy during the same time period and had been objectively and subjectively assessed for ⥠12 months with surgical success at ⥠12 months that did not undergo prolapse re-operation or re-treatment. Demographics and peri-operative details were compared between cases and controls. Exclusion criteria for controls included use of other graft material besides polypropylene mesh, prior surgery for prolapse involving graft material, and conversion to laparotomy. DNA from the 10 cases and 40 controls was isolated from buccal swabs and genotyped on a single nucleotide polymorphism (SNP) array that contains 250,000 markers (NspI 250K SNP array, Affymetrix, Santa Clara, CA). All women in this study identified as Caucasian. All subjects provided written informed consent to study participation and data release. This was a case-control study approved by the Institutional Review Board at the Atlantic Health System in Morristown New Jersey (R11-10-004). This case-control study compared single genotypes of 10 cases to 40 controls. All subjects were identified as Caucasian. Cases were women who experienced early overt POP recurrence after robotic sacrocolpopexy, and controls were randomly selected women with long term success after the same procedure.
2016-06-01 | E-GEOD-63236 | biostudies-arrayexpress
Project description:Sacrocolpopexy has been dubbed the “gold standard” repair for apical pelvic organ prolapse (POP). This study sought to determine a genetic cause for sacrocolpopexy failure by comparing genotypes from 10 women who suffered from early POP reoccurance after sacrocolpopexy surgery, versus 40 randomly selected women with long term success after the same procedure. We objectively defined early overt failure after robotic-assisted laparoscopic sacrocolpopexy as having a pelvic organ prolapse quantification system examination (POP-Q) of stage III or IV occurring in more than one compartment within six months after surgery. All medical records identified during this process were then reviewed by a panel of urogynecology attendings and fellows to select patients who were truly clinical outliers. By this method we identified 10 patients (cases) who experienced early overt surgical failure. We also randomly selected 40 controls from our research database which includes greater than 500 patients who underwent robotic-assisted laparoscopic sacrocolpopexy during the same time period and had been objectively and subjectively assessed for ≥ 12 months with surgical success at ≥ 12 months that did not undergo prolapse re-operation or re-treatment. Demographics and peri-operative details were compared between cases and controls. Exclusion criteria for controls included use of other graft material besides polypropylene mesh, prior surgery for prolapse involving graft material, and conversion to laparotomy. DNA from the 10 cases and 40 controls was isolated from buccal swabs and genotyped on a single nucleotide polymorphism (SNP) array that contains 250,000 markers (NspI 250K SNP array, Affymetrix, Santa Clara, CA). All women in this study identified as Caucasian. All subjects provided written informed consent to study participation and data release. This was a case-control study approved by the Institutional Review Board at the Atlantic Health System in Morristown New Jersey (R11-10-004).
2016-06-01 | GSE63236 | GEO
Project description:The trial is a multicenter, prospective, randomized controlled, unblinded, parallel-group trial comparing standard and delayed surgery after neoadjuvant chemoradiotherapy for the curative treatment of rectal cancer. Three-hundred and thirty-two patients will be randomized on an equal basis to either robotic-assisted/standard laparoscopic rectal cancer surgery after 8 weeks or robotic-assisted/standard laparoscopic rectal cancer surgery after 12 weeks. The recruiting interval will be of 5 years and the follow-up period will end 5 years after the last patient is randomized.
| 2268388 | ecrin-mdr-crc
Project description:Kynureninase is a member of a large family of catalytically diverse but structurally homologous pyridoxal 5'-phosphate (PLP) dependent enzymes known as the aspartate aminotransferase superfamily or alpha-family. The Homo sapiens and other eukaryotic constitutive kynureninases preferentially catalyze the hydrolytic cleavage of 3-hydroxy-l-kynurenine to produce 3-hydroxyanthranilate and l-alanine, while l-kynurenine is the substrate of many prokaryotic inducible kynureninases. The human enzyme was cloned with an N-terminal hexahistidine tag, expressed, and purified from a bacterial expression system using Ni metal ion affinity chromatography. Kinetic characterization of the recombinant enzyme reveals classic Michaelis-Menten behavior, with a Km of 28.3 +/- 1.9 microM and a specific activity of 1.75 micromol min-1 mg-1 for 3-hydroxy-dl-kynurenine. Crystals of recombinant kynureninase that diffracted to 2.0 A were obtained, and the atomic structure of the PLP-bound holoenzyme was determined by molecular replacement using the Pseudomonas fluorescens kynureninase structure (PDB entry 1qz9) as the phasing model. A structural superposition with the P. fluorescens kynureninase revealed that these two structures resemble the "open" and "closed" conformations of aspartate aminotransferase. The comparison illustrates the dynamic nature of these proteins' small domains and reveals a role for Arg-434 similar to its role in other AAT alpha-family members. Docking of 3-hydroxy-l-kynurenine into the human kynureninase active site suggests that Asn-333 and His-102 are involved in substrate binding and molecular discrimination between inducible and constitutive kynureninase substrates.
| S-EPMC2531291 | biostudies-literature
Project description:RNA extracted at 240min. Samples are rRNA depleted. Expression measurement of Homo sapiens genes.
2019-07-31 | GSE114179 | GEO
Project description:As the evolution of miRNA genes has been found to be one of the important factors in formation of the modern type of man, we performed a comparative analysis of the evolution of miRNA genes in two archaic hominines, Homo sapiens neanderthalensis and Homo sapiens denisova, and elucidated the expression of their target mRNAs in bain.A comparative analysis of the genomes of primates, including species in the genus Homo, identified a group of miRNA genes having fixed substitutions with important implications for the evolution of Homo sapiens neanderthalensis and Homo sapiens denisova. The mRNAs targeted by miRNAs with mutations specific for Homo sapiens denisova exhibited enhanced expression during postnatal brain development in modern humans. By contrast, the expression of mRNAs targeted by miRNAs bearing variations specific for Homo sapiens neanderthalensis was shown to be enhanced in prenatal brain development.Our results highlight the importance of changes in miRNA gene sequences in the course of Homo sapiens denisova and Homo sapiens neanderthalensis evolution. The genetic alterations of miRNAs regulating the spatiotemporal expression of multiple genes in the prenatal and postnatal brain may contribute to the progressive evolution of brain function, which is consistent with the observations of fine technical and typological properties of tools and decorative items reported from archaeological Denisovan sites. The data also suggest that differential spatial-temporal regulation of gene products promoted by the subspecies-specific mutations in the miRNA genes might have occurred in the brains of Homo sapiens denisova and Homo sapiens neanderthalensis, potentially contributing to the cultural differences between these two archaic hominines.
| S-EPMC4686780 | biostudies-literature
Project description:PurposeWe investigated the evidence of recent positive selection in the human phototransduction system at single nucleotide polymorphism (SNP) and gene level.MethodsSNP genotyping data from the International HapMap Project for European, Eastern Asian, and African populations was used to discover differences in haplotype length and allele frequency between these populations. Numeric selection metrics were computed for each SNP and aggregated into gene-level metrics to measure evidence of recent positive selection. The level of recent positive selection in phototransduction genes was evaluated and compared to a set of genes shown previously to be under recent selection, and a set of highly conserved genes as positive and negative controls, respectively.ResultsSix of 20 phototransduction genes evaluated had gene-level selection metrics above the 90th percentile: RGS9, GNB1, RHO, PDE6G, GNAT1, and SLC24A1. The selection signal across these genes was found to be of similar magnitude to the positive control genes and much greater than the negative control genes.ConclusionsThere is evidence for selective pressure in the genes involved in retinal phototransduction, and traces of this selective pressure can be demonstrated using SNP-level and gene-level metrics of allelic variation. We hypothesize that the selective pressure on these genes was related to their role in low light vision and retinal adaptation to ambient light changes. Uncovering the underlying genetics of evolutionary adaptations in phototransduction not only allows greater understanding of vision and visual diseases, but also the development of patient-specific diagnostic and intervention strategies.
| S-EPMC3743458 | biostudies-literature
Project description:Cortical thickness has been investigated since the beginning of the 20th century, but we do not know how similar the cortical thickness profiles among humans are. In this study, the local similarity of cortical thickness profiles was investigated using sliding window methods. Here, we show that approximately 5% of the cortical thickness profiles are similarly expressed among humans while 45% of the cortical thickness profiles show a high level of heterogeneity. Therefore, heterogeneity is the rule, not the exception. Cortical thickness profiles of somatosensory homunculi and the anterior insula are consistent among humans, while the cortical thickness profiles of the motor homunculus are more variable. Cortical thickness profiles of homunculi that code for muscle position and skin stimulation are highly similar among humans despite large differences in sex, education, and age. This finding suggests that the structure of these cortices remains well preserved over a lifetime. Our observations possibly relativize opinions on cortical plasticity.
| S-EPMC5738339 | biostudies-literature
Project description:Gene expression profiling of immortalized human mesenchymal stem cells with hTERT/E6/E7 transfected MSCs. hTERT may change gene expression in MSCs. Goal was to determine the gene expressions of immortalized MSCs.
2010-09-25 | GSE24338 | GEO