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https://www.readbyqxmd.com/read/29090037/performance-of-a-methylation-specific-real-time-pcr-assay-as-a-triage-test-for-hpv-positive-women
#1
Martina Schmitz, Kristina Wunsch, Heike Hoyer, Cornelia Scheungraber, Ingo B Runnebaum, Alfred Hansel, Matthias Dürst
BACKGROUND: HPV DNA testing as a primary screening marker is being implemented in several countries. Due to the high HPV prevalence in the screening population, effective triage strategies for HPV-positive cases are required. The aim of this study was to evaluate the performance of a methylation-specific real-time PCR  assay (GynTect®) comprising six marker regions as a triage test. RESULTS: An analytical sensitivity of 0.1 ng genomic DNA corresponding to 15 SiHa cells was achieved...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/29069768/direct-comparison-study-of-dna-methylation-markers-in-epcam-positive-circulating-tumour-cells-corresponding-circulating-tumour-dna-and-paired-primary-tumours-in-breast-cancer
#2
Maria Chimonidou, Areti Strati, Nikos Malamos, Sophia Kouneli, Vassilis Georgoulias, Evi Lianidou
Circulating Tumour Cells (CTCs) and circulating tumour DNA (ctDNA) represent a non-invasive liquid biopsy approach for the follow-up and therapy management of cancer patients. We evaluated whether DNA methylation status in CTCs and ctDNA is comparable and whether it reflects the status of primary tumours. We compared the methylation status of three genes, SOX17, CST6 and BRMS1 in primary tumours, corresponding CTCs and ctDNA in 153 breast cancer patients and healthy individuals, by using real time methylation specific PCR...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29034508/ulk4-deficiency-leads-to-hypomyelination-in-mice
#3
Min Liu, Ping Xu, Zhenlong Guan, Xiaohong Qian, Peter Dockery, Una Fitzgerald, Timothy O'Brien, Sanbing Shen
Brain nerve fibers are insulated by myelin which is produced by oligodendrocytes. Defects in myelination are increasingly recognized as a common pathology underlying neuropsychiatric and neurodevelopmental disorders, which are associated with deletions of the Unc-51-like kinase 4 (ULK4) gene. Key transcription factors have been identified for oligodendrogenesis, but little is known about their associated regulators. Here we report that Ulk4 acts as a key regulator of myelination. Myelination is reduced by half in the Ulk4(tm1a/tm1a) hypomorph brain, whereas expression of axonal marker genes Tubb3, Nefh, Nefl and Nefm remains unaltered...
January 2018: Glia
https://www.readbyqxmd.com/read/29023691/anatomy-and-development-of-the-extrahepatic-biliary-system-in-mouse-and-rat-a-perspective-on-the-evolutionary-loss-of-the-gallbladder
#4
Hiroki Higashiyama, Mami Uemura, Hitomi Igarashi, Masamichi Kurohmaru, Masami Kanai-Azuma, Yoshiakira Kanai
The gallbladder is the hepatobiliary organ for storing and secreting bile fluid, and is a synapomorphy of extant vertebrates. However, this organ has been frequently lost in several lineages of birds and mammals, including rodents. Although it is known as the traditional problem, the differences in development between animals with and without gallbladders are not well understood. To address this research gap, we compared the anatomy and development of the hepatobiliary systems in mice (gallbladder is present) and rats (gallbladder is absent)...
October 10, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28988986/phosphorylation-of-threonine-343-is-crucial-for-oct4-interaction-with-sox2-in-the-maintenance-of-mouse-embryonic-stem-cell-pluripotency
#5
Xianmixinuer Abulaiti, Han Zhang, Aifang Wang, Na Li, Yang Li, Chenchen Wang, Xiaojuan Du, Lingsong Li
OCT4 is required to maintain the pluripotency of embryonic stem cells (ESCs); yet, overdose-expression of OCT4 induces ESC differentiation toward primitive endoderm. The molecular mechanism underlying this differentiation switch is not fully understood. Here, we found that substitution of threonine(343) by alanine (T343A), but not aspartic acid (T343D), caused a significant loss of OCT4-phosphorylation signal in ESCs. Loss of such OCT4-phosphorylation compromises its interaction with SOX2 but promotes interaction with SOX17...
November 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28985527/evolutionarily-distinctive-transcriptional-and-signaling-programs-drive-human-germ-cell-lineage-specification-from-pluripotent-stem-cells
#6
Yoji Kojima, Kotaro Sasaki, Shihori Yokobayashi, Yoshitake Sakai, Tomonori Nakamura, Yukihiro Yabuta, Fumio Nakaki, So Nagaoka, Knut Woltjen, Akitsu Hotta, Takuya Yamamoto, Mitinori Saitou
Germline specification underlies human reproduction and evolution, but it has proven difficult to study in humans since it occurs shortly after blastocyst implantation. This process can be modeled with human induced pluripotent stem cells (hiPSCs) by differentiating them into primordial germ cell-like cells (hPGCLCs) through an incipient mesoderm-like cell (iMeLC) state. Here, we elucidate the key transcription factors and their interactions with important signaling pathways in driving hPGCLC differentiation from iPSCs...
October 5, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28978154/novel-sox17-frameshift-mutations-in-endometrial-cancer-are-functionally-distinct-from-recurrent-missense-mutations
#7
Christopher J Walker, Matthew J O'Hern, Vanida A Serna, Takeshi Kurita, Mario A Miranda, Caroline E Sapp, David G Mutch, David E Cohn, Paul J Goodfellow
Extensive genomic profiling for endometrioid endometrial carcinoma (EEC) has pointed to genes and pathways important in uterine development as critical mediators of endometrial tumorigenesis. SOX17 is a developmental transcription factor necessary for proper endoderm formation that has been implicated as a tumor suppressor and shown to modulate WNT signaling. SOX17 mutation analysis in 539 primary EECs revealed frequent missense and frameshift mutations with an overall 11.5% mutation rate. More than half the mutations identified were frameshifts (32 of 62), and the hotspot missense changes, p...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28935668/chemical-reprogramming-of-mouse-embryonic-and-adult-fibroblast-into-endoderm-lineage
#8
Shangtao Cao, Shengyong Yu, Yan Chen, Xiaoshang Wang, Chunhua Zhou, Yuting Liu, Junqi Kuang, He Liu, Dongwei Li, Jing Ye, Yue Qing, Shilong Chu, Linlin Wu, Lin Guo, Yinxiong Li, Xiaodong Shu, Jiekai Chen, Jing Liu, Duanqing Pei
We report here an approach to redirect somatic cell fate under chemically defined conditions without transcription factors. We start by converting mouse embryonic fibroblasts (MEFs) to epithelial-like cells (ciELC) with chemicals and growth factors. Subsequent cell fate mapping reveals a robust induction of SOX17 in the resulting ELCs that can be further reprogrammed to endodermal progenitor cells (ciEPC). Interestingly, these cells can self-renew in vitro and further differentiate into albumin-producing hepatocytes that can rescue mice from acute live injury...
September 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28890073/alternative-progenitor-cells-compensate-to-rebuild-the-coronary-vasculature-in-elabela-and-apj-deficient-hearts
#9
Bikram Sharma, Lena Ho, Gretchen Hazel Ford, Heidi I Chen, Andrew B Goldstone, Y Joseph Woo, Thomas Quertermous, Bruno Reversade, Kristy Red-Horse
Organogenesis during embryonic development occurs through the differentiation of progenitor cells. This process is extraordinarily accurate, but the mechanisms ensuring high fidelity are poorly understood. Coronary vessels of the mouse heart derive from at least two progenitor pools, the sinus venosus and endocardium. We find that the ELABELA (ELA)-APJ signaling axis is only required for sinus venosus-derived progenitors. Because they do not depend on ELA-APJ, endocardial progenitors are able to expand and compensate for faulty sinus venosus development in Apj mutants, leading to normal adult heart function...
September 25, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28814615/single-cell-gene-expression-of-the-bovine-blastocyst
#10
Verónica M Negrón-Pérez, Yanping Zhang, Peter J Hansen
The first two differentiation events in the embryo result in three cell types - epiblast, trophectoderm (TE) and hypoblast. The purpose here was to identify molecular markers for each cell type in the bovine and evaluate the differences in gene expression among individual cells of each lineage. The cDNA from 67 individual cells of dissociated blastocysts was used to determine transcript abundance for 93 genes implicated as cell lineage markers in other species or potentially involved in developmental processes...
November 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28761511/genetic-associations-of-intracranial-aneurysm-formation-and-sub-arachnoid-hemorrhage
#11
REVIEW
Christian B Theodotou, Brian M Snelling, Samir Sur, Diogo C Haussen, Eric C Peterson, Mohamed Samy Elhammady
Risk factors for cerebral aneurysms typically include age, hypertension, smoking, and alcohol usage. However, the possible connection of aneurysms with genetic conditions such as Marfan's syndrome, polycystic kidney disease, and neurofibromatosis raises the question of possible genetic risk factors for aneurysm, and additionally, genetic risk factors for rupture. We conducted a literature review using the PubMed database for studies regarding genetic correlation with cerebral aneurysm formation as well as rupture from December 2008 to Jun 2015...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28740077/footprint-free-human-fetal-foreskin-derived-ipscs-a-tool-for-modeling-hepatogenesis-associated-gene-regulatory-networks
#12
Peggy Matz, Wasco Wruck, Beatrix Fauler, Diran Herebian, Thorsten Mielke, James Adjaye
Induced pluripotent stem cells (iPSCs) are similar to embryonic stem cells and can be generated from somatic cells. We have generated episomal plasmid-based and integration-free iPSCs (E-iPSCs) from human fetal foreskin fibroblast cells (HFF1). We used an E-iPSC-line to model hepatogenesis in vitro. The HLCs were characterized biochemically, i.e. glycogen storage, ICG uptake and release, UREA and bile acid production, as well as CYP3A4 activity. Ultra-structure analysis by electron microscopy revealed the presence of lipid and glycogen storage, tight junctions and bile canaliculi- all typical features of hepatocytes...
July 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28738066/expansion-by-whole-genome-duplication-and-evolution-of-the-sox-gene-family-in-teleost-fish
#13
Emilien Voldoire, Frédéric Brunet, Magali Naville, Jean-Nicolas Volff, Delphine Galiana
It is now recognized that several rounds of whole genome duplication (WGD) have occurred during the evolution of vertebrates, but the link between WGDs and phenotypic diversification remains unsolved. We have investigated in this study the impact of the teleost-specific WGD on the evolution of the sox gene family in teleostean fishes. The sox gene family, which encodes for transcription factors, has essential role in morphology, physiology and behavior of vertebrates and teleosts, the current largest group of vertebrates...
2017: PloS One
https://www.readbyqxmd.com/read/28716076/klf8-regulates-left-right-asymmetric-patterning-through-modulation-of-kupffer-s-vesicle-morphogenesis-and-spaw-expression
#14
Che-Yi Lin, Ming-Yuan Tsai, Yu-Hsiu Liu, Yu-Fen Lu, Yi-Chung Chen, Yun-Ren Lai, Hsin-Chi Liao, Huang-Wei Lien, Chung-Hsiang Yang, Chang-Jen Huang, Sheng-Ping L Hwang
BACKGROUND: Although vertebrates are bilaterally symmetric organisms, their internal organs are distributed asymmetrically along a left-right axis. Disruption of left-right axis asymmetric patterning often occurs in human genetic disorders. In zebrafish embryos, Kupffer's vesicle, like the mouse node, breaks symmetry by inducing asymmetric expression of the Nodal-related gene, spaw, in the left lateral plate mesoderm (LPM). Spaw then stimulates transcription of itself and downstream genes, including lft1, lft2, and pitx2, specifically in the left side of the diencephalon, heart and LPM...
July 17, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28702321/a-high-content-small-molecule-screen-identifies-novel-inducers-of-definitive-endoderm
#15
Alexander Korostylev, Pallavi U Mahaddalkar, Oliver Keminer, Kamyar Hadian, Kenji Schorpp, Philip Gribbon, Heiko Lickert
OBJECTIVES: Human embryonic stem cells (hESCs) and human induced pluripotent stem cells (hiPSCs) can generate any given cell type in the human body. One challenge for cell-replacement therapy is the efficient differentiation and expansion of large quantities of progenitor cells from pluripotent stem cells produced under good manufacturing practice (GMP). FOXA2 and SOX17 double positive definitive endoderm (DE) progenitor cells can give rise to all endoderm-derived cell types in the thymus, thyroid, lung, pancreas, liver, and gastrointestinal tract...
July 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/28700586/systematic-identification-and-characterization-of-regulatory-elements-derived-from-human-endogenous-retroviruses
#16
Jumpei Ito, Ryota Sugimoto, Hirofumi Nakaoka, Shiro Yamada, Tetsuaki Kimura, Takahide Hayano, Ituro Inoue
Human endogenous retroviruses (HERVs) and other long terminal repeat (LTR)-type retrotransposons (HERV/LTRs) have regulatory elements that possibly influence the transcription of host genes. We systematically identified and characterized these regulatory elements based on publicly available datasets of ChIP-Seq of 97 transcription factors (TFs) provided by ENCODE and Roadmap Epigenomics projects. We determined transcription factor-binding sites (TFBSs) using the ChIP-Seq datasets and identified TFBSs observed on HERV/LTR sequences (HERV-TFBSs)...
July 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28695746/improvement-of-hepatogenic-differentiation-of-ips-cells-on-an-aligned-polyethersulfone-compared-to-random-nanofibers
#17
Maryam Mahmoodinia Maymand, Hamid Reza Soleimanpour-Lichaei, Abdolreza Ardeshirylajimi, Masoud Soleimani, Seyed Ehsan Enderami, Shahrzad Nojehdehi, Farkhondeh Behjati, Maryam Kabir Salmani
The application of stem cells holds great promises in cell and tissue transplants. This study was designed to compare the hepatogenic differentiation of iPSCs on aligned PES/COL versus random. Aligned and random PES/COL nanofibrus scaffolds were fabricated by electrospining and their surface modified through plasma treatment and collagen coating. The scaffolds were characterized using scanning electron microscopy (SEM) and ATR-FTIR. Morphology and biochemical activities of the differentiated hepatocyte-like cells (HLCs) were examined after 5 and 20 days of differentiation...
July 11, 2017: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/28674207/direct-comparison-study-of-dna-methylation-markers-in-epcam-positive-circulating-tumour-cells-corresponding-circulating-tumour-dna-and-paired-primary-tumours-in-breast-cancer
#18
Maria Chimonidou, Areti Strati, Nikos Malamos, Sophia Kouneli, Vassilis Georgoulias, Evi Lianidou
Circulating Tumour Cells (CTCs) and circulating tumour DNA (ctDNA) represent a non-invasive liquid biopsy approach for the follow-up and therapy management of cancer patients. We evaluated whether DNA methylation status in CTCs and ctDNA is comparable and whether it reflects the status of primary tumours. We compared the methylation status of three genes, SOX17, CST6 and BRMS1 in primary tumours, corresponding CTCs and ctDNA in 153 breast cancer patients and healthy individuals, by using real time methylation specific PCR...
June 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28644424/the-indirect-efficacy-comparison-of-dna-methylation-in-sputum-for-early-screening-and-auxiliary-detection-of-lung-cancer-a-meta-analysis
#19
REVIEW
Di Liu, Hongli Peng, Qi Sun, Zhongyao Zhao, Xinwei Yu, Siqi Ge, Hao Wang, Honghong Fang, Qing Gao, Jiaonan Liu, Lijuan Wu, Manshu Song, Youxin Wang
BACKGROUND: DNA methylation in sputum has been an attractive candidate biomarker for the non-invasive screening and detection of lung cancer. MATERIALS AND METHODS: Databases including PubMed, Ovid, Cochrane library, Web of Science databases, Chinese Biological Medicine (CBM), Chinese National Knowledge Infrastructure (CNKI), Wanfang, Vip Databases and Google Scholar were searched to collect the diagnostic trials on aberrant DNA methylation in the screening and detection of lung cancer published until 1 December 2016...
June 23, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28634012/different-expression-of-sox17-gene-during-gametogenesis-between-scallop-chlamys-farreri-and-vertebrates
#20
Shaoshuai Liang, Zhifeng Zhang, Dandan Yang, Yingying Chen, Zhenkui Qin
SOX17, a member of SRY-related high-mobility-group box (SOX) family, involves in endoderm formation, angiogenesis and carcinogenesis, and its expression characteristics are different in spermatogenesis among several vertebrates. In this study, we cloned a full-length cDNA sequence of sox17 from Zhikong scallop Chlamys farreri, and determined its expression characteristics in gonad at mRNA and protein levels. The cDNA sequence was 2802 bp in length, predicted to encode a protein of 511 amino acids and contained a conservative HMG-box of SOX family, while lacked the C-terminal region of SOX17 comparing to vertebrates...
November 2017: Gene Expression Patterns: GEP
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