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https://www.readbyqxmd.com/read/29334629/generation-of-a-human-induced-pluripotent-stem-cell-line-csc-42-from-a-patient-with-sporadic-form-of-parkinson-s-disease
#1
Ekaterina Savchenko, Ana Marote, Kaspar Russ, Anna Collin, Stefano Goldwurm, Laurent Roybon, Yuriy Pomeshchik
Skin fibroblasts were collected from a 44-year-old patient with sporadic case of Parkinson's disease (PD). The non-integrating Sendai virus vector encoding OCT3/4, SOX2, c-MYC and KLF4 was used to reprogram fibroblasts into induced pluripotent stem cells (iPSCs). Generated iPSCs had normal karyotypes, expressed common stem cell markers, and were capable of differentiating into all three germ layers. Generated line could be used for PD modeling to understand the mechanisms that influence the disorder.
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29332656/germ-cell-tumor-causing-pleural-effusion-a-diagnostic-dilemma
#2
Surabhi Jaggi, Reetu Kundu, Sanjeev Binji, Uma Handa, Varinder Saini
Straw colored pleural fluid with raised adenosine deaminase (ADA) levels in young healthy adults usually raises suspicion of tuberculosis, sometimes leading to laxity in carrying thorough physical examination and missing out some important clues with potential disastrous consequences. A 35-year-old male was diagnosed to have left pleural effusion and anti-tubercular treatment was started on the basis of straw colored, lymphocyte-predominant pleural fluid with significantly raised ADA levels. When there was no improvement after 1 month of treatment he was investigated further and found to have a mediastinal mass along with hydro-pneumothorax...
January 2018: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/29331938/generation-of-a-human-induced-pluripotent-stem-cell-line-csc-40-from-a-parkinson-s-disease-patient-with-a-pink1-p-q456x-mutation
#3
Kaspar Russ, Ana Marote, Ekaterina Savchenko, Anna Collin, Stefano Goldwurm, Yuriy Pomeshchik, Laurent Roybon
Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed...
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29328972/establishment-of-tusmi003-a-an-induced-pluripotent-stem-cell-ipsc-line-from-a-62-year-old-chinese-han-patient-with-alzheimer-s-disease-with-apoe3-4-genetic-background
#4
Ying Wang, Hongxiang Yu, Yue Zhang, Jing Zhang, Keni Chen, Heng Sun, Shulin Meng, Gang Li, Ying Lei, Jian Zhao
A 62-year old Chinese Han Alzheimer's disease (AD) female patient with ApoE3/4 genetic background donated her Peripheral blood mononuclear cells (PBMC). The non-integrating episomal vector system was used to reprogrammed PBMCs with the human OKSM transcription factors. The pluripotency of transgene-free iPSCs was confirmed by immunocytochemistry for pluripotency markers and by the ability of the iPSCs to differentiate spontaneously into 3 germ layers in vitro. In addition, the iPSC line displayed a normal karyotype...
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29324254/prdm14-is-expressed-in-germ-cell-tumors-with-constitutive-overexpression-altering-human-germline-differentiation-and-proliferation
#5
Joanna J Gell, Jasmine Zhao, Di Chen, Timothy J Hunt, Amander T Clark
Germ cell tumors (GCTs) are a heterogeneous group of tumors occurring in gonadal and extragonadal locations. GCTs are hypothesized to arise from primordial germ cells (PGCs), which fail to differentiate. One recently identified susceptibility loci for human GCT is PR (PRDI-BF1 and RIZ) domain proteins 14 (PRDM14). PRDM14 is expressed in early primate PGCs and is repressed as PGCs differentiate. To examine PRDM14 in human GCTs we profiled human GCT cell lines and patient samples and discovered that PRDM14 is expressed in embryonal carcinoma cell lines, embryonal carcinomas, seminomas, intracranial germinomas and yolk sac tumors, but is not expressed in teratomas...
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29316020/vitrification-and-in-vitro-culture-had-no-adverse-effect-on-the-follicular-development-and-gene-expression-of-stimulated-human-ovarian-tissue
#6
Mahdi Ramezani, Mojdeh Salehnia, Mina Jafarabadi
AIM: The study assesses the effect of the vitrification procedure on the integrity, morphology, follicular development and gene expression of stimulated human ovarian tissue after warming and two weeks of in vitro culture. METHODS: Ovarian specimens were divided into non-vitrified and vitrified groups and were cultured for two weeks. Morphological analysis and immunohistochemistry were performed. The 17-β estradiol and anti-Müllerian hormone levels in collected media were assessed...
January 5, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29304398/generation-of-human-induced-pluripotent-stem-cells-euraci001-a-euraci002-a-euraci003-a-from-peripheral-blood-mononuclear-cells-of-three-patients-carrying-mutations-in-the-cav3-gene
#7
Viviana Meraviglia, Patrizia Benzoni, Sara Landi, Carmen Murano, Marianna Langione, Benedetta M Motta, Serena Baratto, Rosamaria Silipigni, Marina Di Segni, Peter P Pramstaller, Dario DiFrancesco, Elisabetta Gazzerro, Andrea Barbuti, Alessandra Rossini
Caveolinopathies are a heterogeneous family of genetic pathologies arising from alterations of the caveolin-3 gene (CAV3), encoding for the isoform specifically constituting muscle caveolae. Here, by reprogramming peripheral blood mononuclear cells, we report the generation of induced pluripotent stem cells (iPSCs) from three patients carrying the ΔYTT deletion, T78K and W101C missense mutations in caveolin-3. iPSCs displayed normal karyotypes and all the features of pluripotent stem cells in terms of morphology, specific marker expression and ability to differentiate in vitro into the three germ layers...
December 18, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29304125/a-purified-fermented-extract-of-triticum-aestivum-has-lymphomacidal-activity-mediated-via-natural-killer-cell-activation
#8
Gustavo A Barisone, Robert T O'Donnell, Yunpeng Ma, Mastewal W Abuhay, Kathleen Lundeberg, Sonia Gowda, Joseph M Tuscano
Non-Hodgkin lymphoma (NHL) affects over 400,000 people in the United States; its incidence increases with age. Treatment options are numerous and expanding, yet efficacy is often limited by toxicity, particularly in the elderly. Nearly 70% patients eventually die of the disease. Many patients explore less toxic alternative therapeutics proposed to boost anti-tumor immunity, despite a paucity of rigorous scientific data. Here we evaluate the lymphomacidal and immunomodulatory activities of a protein fraction isolated from fermented wheat germ...
2018: PloS One
https://www.readbyqxmd.com/read/29286443/reprogramming-primary-amniotic-fluid-and-membrane-cells-to-pluripotency-in-xeno-free-conditions
#9
Jaroslav Slamecka, Javier Laurini, Troy Shirley, Simon Philipp Hoerstrup, Benedikt Weber, Laurie Owen, Steven McClellan
Autologous cell-based therapies got a step closer to reality with the introduction of induced pluripotent stem cells. Fetal stem cells, such as amniotic fluid and membrane mesenchymal stem cells, represent a unique type of undifferentiated cells with promise in tissue engineering and for reprogramming into iPSC for future pediatric interventions and stem cell banking. The protocol presented here describes an optimized procedure for extracting and culturing primary amniotic fluid and membrane mesenchymal stem cells and generating episomal induced pluripotent stem cells from these cells in fully chemically defined culture conditions utilizing human recombinant vitronectin and the E8 medium...
November 27, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29274886/establishment-of-human-ipsc-line-nccsi003-a-from-cd34-cells-of-peripheral-blood-collected-during-apheresis-of-healthy-donor-from-indian-ethnicity
#10
Sophia Fernandes, Shruti Tembe, Prajakta Shinde, Sameer Melinkeri, Vaijayanti Kale, Lalita Limaye
We present generation of iPSCs from CD34+ cells isolated from peripheral blood, collected during apheresis of a healthy female individual. We nucleofected the CD34+cells by episomal vectors containing Oct4, Sox2, L-Myc, Lin28, Klf4 and p53DD (dominant negative mutation in p53). The resultant colonies showed cobble-stone appearance and stained positive for alkaline phosphatase. The colonies demonstrated presence of pluripotency markers by immunofluorescence, flow-cytometry and PCR. The plasmids were lost from cells subsequently during passages as assessed by PCR...
December 20, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29274549/lymphoblastoids-cell-lines-derived-ipsc-line-from-a-26-year-old-myotonic-dystrophy-type-1-patient-carrying-ctg-200-expansion-in-the-dmpk-gene-chuqi001-a
#11
Laurie Martineau, Véronique Racine, Siham Ait Benichou, Jack Puymirat
Human immortalized Epstein-Barr virus (EBV) lymphoblastoids cells line (LCLs) from a 26-year- old male affected by an adult form of myotonic dystrophy type 1 (DM1) disease and carrying 200 CTG repeats mutation in the blood was used to generate induced pluripotent stem cells (iPSCs) using the Sendai virus expressing KLF4, OCT4, SOX2 and C-MYC. The resulting iPSCs were EBV free, expressed the pluripotency markers, could be differentiated into the three germ layers in vitro, had a normal karyotype, and retained the genetic DM1 mutation...
December 16, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29247816/generation-of-an-ass1-heterozygous-knockout-human-embryonic-stem-cell-line-wae001-a-13-using-crispr-cas9
#12
Fang Yuan, Dongsheng Guo, Yanli Liu, Yingying Xu, Ge Gao, Yuhang Wu, Fan Yang, Xinrong Ke, Keyu Lai, Hongcheng Wei, Yin-Xiong Li
The ASS1 gene encodes argininosuccinate synthetase-1, a cytosolic enzyme with a critical role in the urea cycle. Mutations are found in all ASS1 exons and cause the autosomal recessive disorder citrullinemia. Using CRISPR/Cas9-editing, we established the WAe001-A-13 cell line, which was heterozygous for an ASS1 mutation, from the human embryonic stem cell line H1. The WAe001-A-13 cell line maintained the pluripotent phenotype, the ability to differentiate into all three germ layers and a normal karyotype.
November 10, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29246576/hoxa9-and-egfp-reporter-expression-in-human-embryonic-stem-cells-hesc-as-useful-tools-for-studying-human-development
#13
Joan Domingo-Reines, Adolfo López-Ornelas, Rosa Montes, Tamara Romero, Jose Luis Rodriguez-Llamas, Rolando Lara-Rodarte, Federico González-Pozas, Veronica Ayllon, Pablo Menendez, Iván Velasco, Veronica Ramos-Mejia
HoxA9 is an evolutionarily conserved homeobox gene implicated in embryo development. To study the roles of Hoxa9 during human development we generated a transgenic H9 (hESC) line that overexpresses HoxA9 and the Enhanced Green Fluorescent Protein (EGFP), and a control H9 with a stable expression of the EGFP. The resulting H9-HoxA9-EGFP and H9-EGFP cell lines allow an efficient visualization of hESCs by fluorescent microscopy, quantification by flow cytometry and cell differentiation tracking. Both transgenic cell lines maintained the pluripotent phenotype, the ability to differentiate into all three germ layers and a normal karyotype...
December 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29246571/generation-and-characterization-of-human-induced-pluripotent-stem-cell-hipsc-lines-from-an-alzheimer-s-disease-asui003-a-and-non-demented-control-asui004-a-patient-homozygous-for-the-apolipoprotein-e4-apoe4-risk-variant
#14
Nicholas Brookhouser, Ping Zhang, Richard Caselli, Jean J Kim, David A Brafman
Although the majority of late-onset Alzheimer's disease (AD) patients are labeled sporadic, multiple genetic risk variants have been identified, the most powerful and prevalent of which is the e4 variant of the Apolipoprotein E (APOE) gene. Here, we generated human induced pluripotent stem cell (hiPSC) lines from the peripheral blood mononuclear cells (PBMCs) of a clinically diagnosed AD patient [ASUi003-A] and a non-demented control (NDC) patient [ASUi004-A] homozygous for the APOE4 risk allele. These hiPSCs maintained their original genotype, expressed pluripotency markers, exhibited a normal karyotype, and retained the ability to differentiate into cells representative of the three germ layers...
December 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29192152/one-small-edit-for-humans-one-giant-edit-for-humankind-points-and-questions-to-consider-for-a-responsible-way-forward-for-gene-editing-in-humans
#15
Heidi C Howard, Carla G van El, Francesca Forzano, Dragica Radojkovic, Emmanuelle Rial-Sebbag, Guido de Wert, Pascal Borry, Martina C Cornel
Gene editing, which allows for specific location(s) in the genome to be targeted and altered by deleting, adding or substituting nucleotides, is currently the subject of important academic and policy discussions. With the advent of efficient tools, such as CRISPR-Cas9, the plausibility of using gene editing safely in humans for either somatic or germ line gene editing is being considered seriously. Beyond safety issues, somatic gene editing in humans does raise ethical, legal and social issues (ELSI), however, it is suggested to be less challenging to existing ethical and legal frameworks; indeed somatic gene editing is already applied in (pre-) clinical trials...
November 30, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29170400/host-sting-dependent-mdsc-mobilization-drives-extrinsic-radiation-resistance
#16
Hua Liang, Liufu Deng, Yuzhu Hou, Xiangjiao Meng, Xiaona Huang, Enyu Rao, Wenxin Zheng, Helena Mauceri, Matthias Mack, Meng Xu, Yang-Xin Fu, Ralph R Weichselbaum
Radiotherapy induces and promotes innate and adaptive immunity in which host STING plays an important role. However, radioresistance in irradiated tumors can also develop, resulting in relapse. Here we report a mechanism by which extrinsic resistance develops after local ablative radiation that relies on the immunosuppressive action of STING. The STING/type I interferon pathway enhances suppressive inflammation in tumors by recruiting myeloid cells in part via the CCR2 pathway. Germ-line knockouts of CCR2 or treatment with an anti-CCR2 antibody results in blockade of radiation-induced MDSC infiltration...
November 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/29168895/epigenetics-as-a-driver-of-developmental-origins-of-health-and-disease-did-we-forget-the-fathers
#17
REVIEW
Adelheid Soubry
What are the effects of our environment on human development and the next generation? Numerous studies have provided ample evidence that a healthy environment and lifestyle of the mother is important for her offspring. Biological mechanisms underlying these environmental influences have been proposed to involve alterations in the epigenome. Is there enough evidence to suggest a similar contribution from the part of the father? Animal models provide proof of a transgenerational epigenetic effect through the paternal germ line, but can this be translated to humans? To date, literature on fathers is scarce...
November 23, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29161648/derivation-and-characterization-of-the-nyscfe003-a-human-embryonic-stem-cell-line
#18
Ana Sevilla, Eliana Forero, Matthew Zimmer, Hector Martinez, Katie Reggio, Daniel Paull, Dieter Egli, Scott Noggle
The human embryonic stem cell line NYSCFe003-A was derived from a day 5 to day 6 blastocyst in feeder-free and antibiotic free conditions. The blastocyst was voluntarily donated for research as surplus after in vitro fertilization treatment following informed consent. The NYSCFe003-A line expresses all the pluripotency markers and has the potential to differentiate into all three germ layers in vitro. The line presents normal karyotype and is mycoplasma free.
November 18, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29158577/vgf-function-in-depression-and-antidepressant-efficacy
#19
C Jiang, W-J Lin, M Sadahiro, B Labonté, C Menard, M L Pfau, C A Tamminga, G Turecki, E J Nestler, S J Russo, S R Salton
Brain-derived neurotrophic factor (BDNF) is a critical effector of depression-like behaviors and antidepressant responses. Here, we show that VGF (non-acronymic), which is robustly regulated by BDNF/TrkB signaling, is downregulated in hippocampus (male/female) and upregulated in nucleus accumbens (NAc) (male) in depressed human subjects and in mice subjected to chronic social defeat stress (CSDS). Adeno-associated virus (AAV)-Cre-mediated Vgf ablation in floxed VGF mice, in dorsal hippocampus (dHc) or NAc, led to pro-depressant or antidepressant behaviors, respectively, while dHc- or NAc-AAV-VGF overexpression induced opposite outcomes...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29158412/induced-gnasr201h-expression-from-the-endogenous-gnas-locus-causes-fibrous-dysplasia-by-up-regulating-wnt-%C3%AE-catenin-signaling
#20
Sanjoy Kumar Khan, Prem Swaroop Yadav, Gene Elliott, Dorothy Zhang Hu, Ruoshi Xu, Yingzi Yang
Fibrous dysplasia (FD; Online Mendelian Inheritance in Man no. 174800) is a crippling skeletal disease caused by activating mutations of the GNAS gene, which encodes the stimulatory G protein Gαs FD can lead to severe adverse conditions such as bone deformity, fracture, and severe pain, leading to functional impairment and wheelchair confinement. So far there is no cure, as the underlying molecular and cellular mechanisms remain largely unknown and the lack of appropriate animal models has severely hampered FD research...
November 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
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