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https://www.readbyqxmd.com/read/27789403/induced-pluripotent-stem-cells-ipsc-created-from-skin-fibroblasts-of-patients-with-prader-willi-syndrome-pws-retain-the-molecular-signature-of-pws
#1
Lisa C Burnett, Charles A LeDuc, Carlos R Sulsona, Daniel Paull, Sanaa Eddiry, Brynn Levy, Jean Pierre Salles, Maithe Tauber, Daniel J Driscoll, Dieter Egli, Rudolph L Leibel
Prader-Willi syndrome (PWS) is a syndromic obesity caused by loss of paternal gene expression in an imprinted interval on 15q11.2-q13. Induced pluripotent stem cells were generated from skin cells of three large deletion PWS patients and one unique microdeletion PWS patient. We found that genes within the PWS region, including SNRPN and NDN, showed persistence of DNA methylation after iPSC reprogramming and differentiation to neurons. Genes within the PWS minimum critical deletion region remain silenced in both PWS large deletion and microdeletion iPSC following reprogramming...
August 16, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27763625/identification-and-propagation-of-haploid-human-pluripotent-stem-cells
#2
Ido Sagi, Dieter Egli, Nissim Benvenisty
Haploid human pluripotent stem cells (PSCs) integrate haploidy and pluripotency, providing a novel system for functional genomics and developmental research in humans. We have recently derived haploid human embryonic stem cells (ESCs) by parthenogenesis and demonstrated their wide differentiation potential and applicability for genetic screening. Because haploid cells can spontaneously become diploid, their enrichment at an early passage is key for successful derivation. In this protocol, we describe two methodologies, namely metaphase spread analysis and cell sorting, for the identification of haploid human cells within parthenogenetic ESC lines...
November 2016: Nature Protocols
https://www.readbyqxmd.com/read/27500271/a-proposal-for-early-dosing-regimens-in-heart-transplant-patients-receiving-thymoglobulin-and-calcineurin-inhibition
#3
REVIEW
Markus J Barten, Uwe Schulz, Andres Beiras-Fernandez, Michael Berchtold-Herz, Udo Boeken, Jens Garbade, Stephan Hirt, Manfred Richter, Arjang Ruhpawar, Jan Dieter Schmitto, Felix Schönrath, Rene Schramm, Martin Schweiger, Markus Wilhelm, Andreas Zuckermann
There is currently no consensus regarding the dose or duration of rabbit antithymocyte globulin (rATG) induction in different types of heart transplant patients, or the timing and intensity of initial calcineurin inhibitor (CNI) therapy in rATG-treated individuals. Based on limited data and personal experience, the authors propose an approach to rATG dosing and initial CNI administration. Usually rATG is initiated immediately after exclusion of primary graft failure, although intraoperative initiation may be appropriate in specific cases...
June 2016: Transplantation Direct
https://www.readbyqxmd.com/read/27385103/analysis-of-chromosomal-aberrations-and-recombination-by-allelic-bias-in-rna-seq
#4
Uri Weissbein, Maya Schachter, Dieter Egli, Nissim Benvenisty
Genomic instability has profound effects on cellular phenotypes. Studies have shown that pluripotent cells with abnormal karyotypes may grow faster, differentiate less and become more resistance to apoptosis. Previously, we showed that microarray gene expression profiles can be utilized for the analysis of chromosomal aberrations by comparing gene expression levels between normal and aneuploid samples. Here we adopted this method for RNA-Seq data and present eSNP-Karyotyping for the detection of chromosomal aberrations, based on measuring the ratio of expression between the two alleles...
2016: Nature Communications
https://www.readbyqxmd.com/read/27367166/efficient-generation-of-hypothalamic-neurons-from-human-pluripotent-stem-cells
#5
Liheng Wang, Dieter Egli, Rudolph L Leibel
The hypothalamus comprises neuronal clusters that are essential for body weight regulation and other physiological functions. Insights into the complex cellular physiology of this region of the brain are critical to understanding the pathogenesis of obesity, but human hypothalamic cells are largely inaccessible for direct study. Here we describe a technique for generation of arcuate-like hypothalamic neurons from human pluripotent stem (hPS) cells. Early activation of SHH signaling and inhibition of BMP and TGFβ signaling, followed by timed inhibition of NOTCH, can efficiently differentiate hPS cells into NKX2...
2016: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/27212703/genetic-drift-can-compromise-mitochondrial-replacement-by-nuclear-transfer-in-human-oocytes
#6
Mitsutoshi Yamada, Valentina Emmanuele, Maria J Sanchez-Quintero, Bruce Sun, Gregory Lallos, Daniel Paull, Matthew Zimmer, Shardonay Pagett, Robert W Prosser, Mark V Sauer, Michio Hirano, Dieter Egli
Replacement of mitochondria through nuclear transfer between oocytes of two different women has emerged recently as a strategy for preventing inheritance of mtDNA diseases. Although experiments in human oocytes have shown effective replacement, the consequences of small amounts of mtDNA carryover have not been studied sufficiently. Using human mitochondrial replacement stem cell lines, we show that, even though the low levels of heteroplasmy introduced into human oocytes by mitochondrial carryover during nuclear transfer often vanish, they can sometimes instead result in mtDNA genotypic drift and reversion to the original genotype...
June 2, 2016: Cell Stem Cell
https://www.readbyqxmd.com/read/27064284/hypomorphism-of-fto-and-rpgrip1l-causes-obesity-in-mice
#7
George Stratigopoulos, Lisa Cole Burnett, Richard Rausch, Richard Gill, David Barth Penn, Alicja A Skowronski, Charles A LeDuc, Anthony J Lanzano, Pumin Zhang, Daniel R Storm, Dieter Egli, Rudolph L Leibel
Noncoding polymorphisms in the fat mass and obesity-associated (FTO) gene represent common alleles that are strongly associated with effects on food intake and adiposity in humans. Previous studies have suggested that the obesity-risk allele rs8050136 in the first intron of FTO alters a regulatory element recognized by the transcription factor CUX1, thereby leading to decreased expression of FTO and retinitis pigmentosa GTPase regulator-interacting protein-1 like (RPGRIP1L). Here, we evaluated the effects of rs8050136 and another potential CUX1 element in rs1421085 on expression of nearby genes in human induced pluripotent stem cell-derived (iPSC-derived) neurons...
May 2, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/26982723/derivation-and-differentiation-of-haploid-human-embryonic-stem-cells
#8
Ido Sagi, Gloryn Chia, Tamar Golan-Lev, Mordecai Peretz, Uri Weissbein, Lina Sui, Mark V Sauer, Ofra Yanuka, Dieter Egli, Nissim Benvenisty
Diploidy is a fundamental genetic feature in mammals, in which haploid cells normally arise only as post-meiotic germ cells that serve to ensure a diploid genome upon fertilization. Gamete manipulation has yielded haploid embryonic stem (ES) cells from several mammalian species, but haploid human ES cells have yet to be reported. Here we generated and analysed a collection of human parthenogenetic ES cell lines originating from haploid oocytes, leading to the successful isolation and maintenance of human ES cell lines with a normal haploid karyotype...
April 7, 2016: Nature
https://www.readbyqxmd.com/read/26936885/attitudes-toward-prevention-of-mtdna-related-diseases-through-oocyte-mitochondrial-replacement-therapy
#9
Kristin Engelstad, Miriam Sklerov, Joshua Kriger, Alexandra Sanford, Johnston Grier, Daniel Ash, Dieter Egli, Salvatore DiMauro, John L P Thompson, Mark V Sauer, Michio Hirano
STUDY QUESTION: Among women who carry pathogenic mitochondrial DNA (mtDNA) point mutations and healthy oocyte donors, what are the levels of support for developing oocyte mitochondrial replacement therapy (OMRT) to prevent transmission of mtDNA mutations? SUMMARY ANSWER: The majority of mtDNA carriers and oocyte donors support the development of OMRT techniques to prevent transmission of mtDNA diseases. WHAT IS KNOWN ALREADY: Point mutations of mtDNA cause a variety of maternally inherited human diseases that are frequently disabling and often fatal...
May 2016: Human Reproduction
https://www.readbyqxmd.com/read/26621855/human-embryos-commonly-form-abnormal-nuclei-during-development-a-mechanism-of-dna-damage-embryonic-aneuploidy-and-developmental-arrest
#10
Daniel H Kort, Gloryn Chia, Nathan R Treff, Akemi J Tanaka, Tongji Xing, Lauren Bauer Vensand, Stephanie Micucci, Robert Prosser, Roger A Lobo, Mark V Sauer, Dieter Egli
STUDY QUESTION: What is the prevalence and developmental significance of morphologic nuclear abnormalities in human preimplantation embryos? SUMMARY ANSWER: Nuclear abnormalities are commonly found in human IVF embryos and are associated with DNA damage, aneuploidy, and decreased developmental potential. WHAT IS KNOWN ALREADY: Early human embryonic development is complicated by genomic errors that occur after fertilization. The appearance of extra-nuclear DNA, which has been observed in IVF, may be a result of such errors...
February 2016: Human Reproduction
https://www.readbyqxmd.com/read/26524661/gfp-specific-cd8-t-cells-enable-targeted-cell-depletion-and-visualization-of-t-cell-interactions
#11
Judith Agudo, Albert Ruzo, Eun Sook Park, Robert Sweeney, Veronika Kana, Meng Wu, Yong Zhao, Dieter Egli, Miriam Merad, Brian D Brown
There are numerous cell types with scarcely understood functions, whose interactions with the immune system are not well characterized. To facilitate their study, we generated a mouse bearing enhanced green fluorescent protein (EGFP)-specific CD8(+) T cells. Transfer of the T cells into EGFP reporter animals can be used to kill EGFP-expressing cells, allowing selective depletion of desired cell types, or to interrogate T-cell interactions with specific populations. Using this system, we eliminate a rare EGFP-expressing cell type in the heart and demonstrate its role in cardiac function...
December 2015: Nature Biotechnology
https://www.readbyqxmd.com/read/26282611/from-cloned-frogs-to-patient-matched-stem-cells-induced-pluripotency-or-somatic-cell-nuclear-transfer
#12
REVIEW
Mitsutoshi Yamada, James Byrne, Dieter Egli
Nuclear transfer has seen a remarkable comeback in the past few years. Three groups have independently reported the derivation of stem cell lines by somatic cell nuclear transfer, from either adult, neonatal or fetal cells. Though the ability of human oocytes to reprogram somatic cells to stem cells had long been anticipated, success did not arrive on a straightforward path. Little was known about human oocyte biology, and nuclear transfer protocols developed in animals required key changes to become effective with human eggs...
October 2015: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/26215406/personality-of-adults-who-were-born-very-preterm
#13
Suna Eryigit-Madzwamuse, Victoria Strauss, Nicole Baumann, Peter Bartmann, Dieter Wolke
OBJECTIVES: To examine very preterm (gestational age at birth <32 weeks) and/or very low birth weight (birth weight <1500 g: VP/VLBW) adults' personality and risk taking when compared with term controls. To investigate whether differences between VP/VLBW adults and controls remain after taking their general cognitive abilities into account. DESIGN: The Bavarian Longitudinal Study is a geographically defined prospective cohort study of neonatal at-risk children born in 1985/1986 in Germany...
November 2015: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/26137512/stem-cell-derived-beta-cells-for-treatment-of-type-1-diabetes
#14
Robin Goland, Dieter Egli
No abstract text is available yet for this article.
December 2014: EBioMedicine
https://www.readbyqxmd.com/read/26074423/brain-pathways-to-recovery-from-alcohol-dependence
#15
Changhai Cui, Antonio Noronha, Kenneth R Warren, George F Koob, Rajita Sinha, Mahesh Thakkar, John Matochik, Fulton T Crews, L Judson Chandler, Adolf Pfefferbaum, Howard C Becker, David Lovinger, Barry J Everitt, Mark Egli, Chitra D Mandyam, George Fein, Marc N Potenza, R Adron Harris, Kathleen A Grant, Marisa Roberto, Dieter J Meyerhoff, Edith V Sullivan
This article highlights the research presentations at the satellite symposium on "Brain Pathways to Recovery from Alcohol Dependence" held at the 2013 Society for Neuroscience Annual Meeting. The purpose of this symposium was to provide an up to date overview of research efforts focusing on understanding brain mechanisms that contribute to recovery from alcohol dependence. A panel of scientists from the alcohol and addiction research field presented their insights and perspectives on brain mechanisms that may underlie both recovery and lack of recovery from alcohol dependence...
August 2015: Alcohol
https://www.readbyqxmd.com/read/26071884/glucose-management-in-critically-ill-adults-and-children
#16
REVIEW
Dieter Mesotten, Jean-Charles Preiser, Mikhail Kosiborod
Blood glucose management in people with acute myocardial infarction and critical illness has always attracted controversy. Compared with the era before 2001 when no attention was given to blood glucose management, DIGAMI-1 in 1995 and the first Leuven study in 2001 showed improved outcomes with strict control of blood glucose, thereby suggesting a causal association between hyperglycaemia and mortality risk. These landmark trials have set the standard in clinical practice that excessive hyperglycaemia is not acceptable...
September 2015: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/26034249/maternal-sensitivity-in-parenting-preterm-children-a-meta-analysis
#17
REVIEW
Ayten Bilgin, Dieter Wolke
BACKGROUND AND OBJECTIVES: Preterm birth is a significant stressor for parents and may adversely impact maternal parenting behavior. However, findings have been inconsistent. The objective of this meta-analysis was to determine whether mothers of preterm children behave differently (eg, less responsive or sensitive) in their interactions with their children after they are discharged from the hospital than mothers of term children. METHODS: Medline, PsychInfo, ERIC, PubMed, and Web of Science were searched from January 1980 through May 2014 with the following keywords: "premature", "preterm", "low birth weight" in conjunction with "maternal behavio*r", "mother-infant interaction", "maternal sensitivity", and "parenting"...
July 2015: Pediatrics
https://www.readbyqxmd.com/read/25733347/toward-beta-cell-replacement-for-diabetes
#18
REVIEW
Bjarki Johannesson, Lina Sui, Donald O Freytes, Remi J Creusot, Dieter Egli
The discovery of insulin more than 90 years ago introduced a life-saving treatment for patients with type 1 diabetes, and since then, significant progress has been made in clinical care for all forms of diabetes. However, no method of insulin delivery matches the ability of the human pancreas to reliably and automatically maintain glucose levels within a tight range. Transplantation of human islets or of an intact pancreas can in principle cure diabetes, but this approach is generally reserved for cases with simultaneous transplantation of a kidney, where immunosuppression is already a requirement...
April 1, 2015: EMBO Journal
https://www.readbyqxmd.com/read/25555215/differentiation-of-hypothalamic-like-neurons-from-human-pluripotent-stem-cells
#19
Liheng Wang, Kana Meece, Damian J Williams, Kinyui Alice Lo, Matthew Zimmer, Garrett Heinrich, Jayne Martin Carli, Charles A Leduc, Lei Sun, Lori M Zeltser, Matthew Freeby, Robin Goland, Stephen H Tsang, Sharon L Wardlaw, Dieter Egli, Rudolph L Leibel
The hypothalamus is the central regulator of systemic energy homeostasis, and its dysfunction can result in extreme body weight alterations. Insights into the complex cellular physiology of this region are critical to the understanding of obesity pathogenesis; however, human hypothalamic cells are largely inaccessible for direct study. Here, we developed a protocol for efficient generation of hypothalamic neurons from human embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) obtained from patients with monogenetic forms of obesity...
February 2015: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/25517467/comparable-frequencies-of-coding-mutations-and-loss-of-imprinting-in-human-pluripotent-cells-derived-by-nuclear-transfer-and-defined-factors
#20
Bjarki Johannesson, Ido Sagi, Athurva Gore, Daniel Paull, Mitsutoshi Yamada, Tamar Golan-Lev, Zhe Li, Charles LeDuc, Yufeng Shen, Samantha Stern, Nanfang Xu, Hong Ma, Eunju Kang, Shoukhrat Mitalipov, Mark V Sauer, Kun Zhang, Nissim Benvenisty, Dieter Egli
The recent finding that reprogrammed human pluripotent stem cells can be derived by nuclear transfer into human oocytes as well as by induced expression of defined factors has revitalized the debate on whether one approach might be advantageous over the other. Here we compare the genetic and epigenetic integrity of human nuclear-transfer embryonic stem cell (NT-ESC) lines and isogenic induced pluripotent stem cell (iPSC) lines, derived from the same somatic cell cultures of fetal, neonatal, and adult origin...
November 6, 2014: Cell Stem Cell
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