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Developmental programming

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https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#1
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28212892/atf2-a-paradigm-of-the-multifaceted-regulation-of-transcription-factors-in-biology-and-disease
#2
REVIEW
Gregory Watson, Ze'ev Ronai, Eric Lau
Stringent transcriptional regulation is crucial for normal cellular biology and organismal development. Perturbations in the proper regulation of transcription factors can result in numerous pathologies, including cancer. Thus, understanding how transcription factors are regulated and how they are dysregulated in disease states is key to the therapeutic targeting of these factors and/or the pathways that they regulate. Activating transcription factor 2 (ATF2) has been studied in a number of developmental and pathological conditions...
February 14, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28212315/developmental-programming-of-adult-disease-reprogramming-by-melatonin
#3
REVIEW
You-Lin Tain, Li-Tung Huang, Chien-Ning Hsu
Adult-onset chronic non-communicable diseases (NCDs) can originate from early life through so-called the "developmental origins of health and disease" (DOHaD) or "developmental programming". The DOHaD concept offers the "reprogramming" strategy to shift the treatment from adulthood to early life, before clinical disease is apparent. Melatonin, an endogenous indoleamine produced by the pineal gland, has pleiotropic bioactivities those are beneficial in a variety of human diseases. Emerging evidence support that melatonin is closely inter-related to other proposed mechanisms contributing to the developmental programming of a variety of chronic NCDs...
February 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28211869/non-apoptotic-cell-death-in-animal-development
#4
REVIEW
Lena M Kutscher, Shai Shaham
Programmed cell death (PCD) is an important process in the development of multicellular organisms. Apoptosis, a form of PCD characterized morphologically by chromatin condensation, membrane blebbing, and cytoplasm compaction, and molecularly by the activation of caspase proteases, has been extensively investigated. Studies in Caenorhabditis elegans, Drosophila, mice, and the developing chick have revealed, however, that developmental PCD also occurs through other mechanisms, morphologically and molecularly distinct from apoptosis...
February 17, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28211476/novel-roles-for-staufen1-in-embryonal-and-alveolar-rhabdomyosarcoma-via-c-myc-dependent-and-independent-events
#5
Tara E Crawford Parks, Kristen A Marcellus, Jonathan Langill, Aymeric Ravel-Chapuis, Jean Michaud, Kyle N Cowan, Jocelyn Côté, Bernard J Jasmin
Rhabdomyosarcoma is the most common soft tissue sarcoma in children and young adults. Rhabdomyosarcomas are skeletal muscle-like tumours that typically arise in muscle beds, and express key myogenic regulatory factors. However, their developmental program remains blocked in the proliferative phase with cells unable to exit the cell cycle to fuse into myotubes. Recently, we uncovered a key role for the RNA-binding protein Staufen1 during myogenic differentiation through the regulation of c-myc translation. Given the known implication of c-myc in rhabdomyosarcoma, we hypothesized in the current work that Staufen1 controls rhabdomyosarcoma tumorigenesis...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28209604/birth-size-risk-factors-across-life-and-cognition-in-late-life-protocol-of-prospective-longitudinal-follow-up-of-the-mynah-mysore-studies-of-natal-effects-on-ageing-and-health-cohort
#6
Murali Krishna, G Mohan Kumar, S R Veena, G V Krishnaveni, Kalyanaraman Kumaran, Samuel Christaprasad Karat, Patsy Coakley, Clive Osmond, John R M Copeland, Giriraj Chandak, Dattatray Bhat, Mathew Varghese, Martin Prince, Caroline Fall
INTRODUCTION: For late-life neurocognitive disorders, as for other late-life chronic diseases, much recent interest has focused on the possible relevance of Developmental Origins of Health and Disease (DOHaD). Programming by undernutrition in utero, followed by overnutrition in adult life may lead to an increased risk, possibly mediated through cardiovascular and metabolic pathways. This study will specifically examine, if lower birth weight is associated with poorer cognitive functioning in late life in a south Indian population...
February 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/28208659/developmental-origins-of-chronic-kidney-disease-should-we-focus-on-early-life
#7
REVIEW
You-Lin Tain, Chien-Ning Hsu
Chronic kidney disease (CKD) is becoming a global burden, despite recent advances in management. CKD can begin in early life by so-called "developmental programming" or "developmental origins of health and disease" (DOHaD). Early-life insults cause structural and functional changes in the developing kidney, which is called renal programming. Epidemiological and experimental evidence supports the proposition that early-life adverse events lead to renal programming and make subjects vulnerable to developing CKD and its comorbidities in later life...
February 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28207551/health-promotion-in-young-adults-at-a-university-in-korea-a-cross-sectional-study-of-625-participants-in-a-university
#8
Hee-Kyung Joh, Hyun-Ji Kim, Young-Oh Kim, Jae-Young Lee, BeLong Cho, Chun Soo Lim, Sung-Eun Jung
Young adulthood is a critical developmental period for establishing life-long health behaviors. However, too little attention has been paid to young adult health promotion. The purpose of this study was to describe the processes of development and implementation involved in a collaborative university-wide health promotion program and to evaluate the achievements of the program.A 3-day university-wide health promotion program was developed and implemented in the nation's largest public university in South Korea in September 2013...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28203244/pistil-transcriptome-analysis-to-disclose-genes-and-gene-products-related-to-aposporous-apomixis-in-hypericum-perforatum-l
#9
Giulio Galla, Sara Zenoni, Linda Avesani, Lothar Altschmied, Paride Rizzo, Timothy F Sharbel, Gianni Barcaccia
Unlike sexual reproduction, apomixis encompasses a number of reproductive strategies, which permit maternal genome inheritance without genetic recombination and syngamy. The key biological features of apomixis are the circumvention of meiosis (i.e., apomeiosis), the differentiation of unreduced embryo sacs and egg cells, and their autonomous development in functional embryos through parthenogenesis, and the formation of viable endosperm either via fertilization-independent means or following fertilization with a sperm cell...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28197914/sumoylation-in-development-and-differentiation
#10
Adeline F Deyrieux, Van G Wilson
Tissue morphogenesis is a fascinating aspect of both developmental biology and regeneration of certain adult organs, and timely control of cellular differentiation is a key to these processes. During development, events interrupting cellular differentiation and leading to organ failure are embryonic lethal; likewise, perturbation of differentiation in regenerating tissues leads to dysfunction and disease. At the molecular level, cellular differentiation is orchestrated by a well-coordinated cascade of transcription factors (TFs) and chromatin remodeling complexes that drive gene expression...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28197719/regulatory-crosstalk-between-micrornas-and-hormone-signalling-cascades-controls-the-variation-on-seed-dormancy-phenotype-at-arabidopsis-thaliana-seed-set
#11
Yang Liu, Yousry A El-Kassaby
We employed an Illumina sequencing approach to identify candidate microRNA cohorts that may greatly contribute to seed dormancy modulation and to construct a microRNA-gene regulatory network in hormone signalling cascades. MicroRNAs (miRNAs) are important signalling molecules and regulate many developmental programs of plants. Some miRNAs have been integrated into gene regulatory networks (GRNs) and coordinate developmental plasticity, but few study systematically investigated how phenotypical variations are regulated through differential expression of miRNA tags in GRNs during seed set...
February 14, 2017: Plant Cell Reports
https://www.readbyqxmd.com/read/28197373/systemic-activation-of-antigen-presenting-cells-via-rna-loaded-nanoparticles
#12
Elias J Sayour, Gabriel De Leon, Christina Pham, Adam Grippin, Hanna Kemeny, Joshua Chua, Jianping Huang, John H Sampson, Luis Sanchez-Perez, Catherine Flores, Duane A Mitchell
While RNA-pulsed dendritic cell (DC) vaccines have shown promise, the advancement of cellular therapeutics is fraught with developmental challenges. To circumvent the challenges of cellular immunotherapeutics, we developed clinically translatable nanoliposomes that can be combined with tumor-derived RNA to generate personalized tumor RNA-nanoparticles (NPs) with considerable scale-up capacity. RNA-NPs bypass MHC restriction, are amenable to central distribution, and can provide near immediate immune induction...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28194826/mapping-out-p38mapk
#13
Elizabeth A Bonney
To generate new hypotheses, sometimes a "systems" approach is needed. In this review, I focus on the mitogen-activated kinase p38 because it has been recently shown to play an important role in the developmental programing and senescence of normal and stressed reproductive tissues. What follows is an overview of (i) pathways of p38 activation and their involvement in basic biological processes, (ii) evidence that p38 is involved in the homeostasis of reproductive tissues, (iii) how focus on p38 can be incorporated into investigation of normal and stressed pregnancies...
February 13, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28194805/fetal-adaptations-in-insulin-secretion-result-from-high-catecholamines-during-placental-insufficiency
#14
Sean W Limesand, Paul J Rozance
Placental insufficiency and intrauterine growth restriction (IUGR) of the fetus affects approximately 8% of all pregnancies and is associated with short- and long-term disturbances in metabolism. In pregnant sheep, experimental models with a small, defective placenta that restricts delivery of nutrients and oxygen to the fetus result in IUGR. Low blood oxygen concentrations increase fetal plasma catecholamine concentrations, which lower fetal insulin concentrations. All of these observations in sheep models with placental insufficiency are consistent with cases of human IUGR...
February 14, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28194564/xylogenesis-in-zinnia-zinnia-elegans-cell-cultures-unravelling%C3%A2-the-regulatory-steps-in-a-complex-developmental-programmed-cell-death-event
#15
REVIEW
Elena T Iakimova, Ernst J Woltering
Physiological and molecular studies support the view that xylogenesis can largely be determined as a specific form of vacuolar programmed cell death (PCD). The studies in xylogenic zinnia cell culture have led to many breakthroughs in xylogenesis research and provided a background for investigations in other experimental models in vitro and in planta . This review discusses the most essential earlier and recent findings on the regulation of xylem elements differentiation and PCD in zinnia and other xylogenic systems...
February 13, 2017: Planta
https://www.readbyqxmd.com/read/28194435/foxp3-drives-oxidative-phosphorylation-and-protection-from-lipotoxicity
#16
Duncan Howie, Stephen Paul Cobbold, Elizabeth Adams, Annemieke Ten Bokum, Andra Stefania Necula, Wei Zhang, Honglei Huang, David J Roberts, Benjamin Thomas, Svenja S Hester, David J Vaux, Alexander G Betz, Herman Waldmann
Tregs can adopt a catabolic metabolic program with increased capacity for fatty acid oxidation-fueled oxidative phosphorylation (OXPHOS). It is unclear why this form of metabolism is favored in Tregs and, more specifically, whether this program represents an adaptation to the environment and developmental cues or is "hardwired" by Foxp3. Here we show, using metabolic analysis and an unbiased mass spectroscopy-based proteomics approach, that Foxp3 is both necessary and sufficient to program Treg-increased respiratory capacity and Tregs' increased ability to utilize fatty acids to fuel oxidative phosphorylation...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28194214/single-center-experience-of-the-korean-developmental-screening-test-for-infants-and-children
#17
Chae-Ri Suh, Su Ye Sohn, Gun-Ha Kim, Seong-Kwan Jung, Baik-Lin Eun
PURPOSE: We investigated the number of test takers of the Korean-Developmental Screening Test (K-DST) in a single children's hospital within a year, according to age, referral rate, and follow-up percentage. METHODS: For this study, 4,062 children who visited and received K-DST at Woorisoa Children's Hospital between January and December 2015 were enrolled. Seven test sets were used according to the Korean National Health Screening Program for infants and children in the following age groups: 4 to 6, 9 to 12, 18 to 24, 30 to 36, 42 to 48, 54 to 60, and 66 to 71 months...
December 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28193317/identification-of-differentially-expressed-placental-transcripts-during-multiple-gestations-in-the-eurasian-beaver-castor-fiber-l
#18
A Lipka, L Paukszto, M Majewska, J P Jastrzebski, K Myszczynski, G Panasiewicz, B Szafranska
The Eurasian beaver is one of the largest rodents that, despite its high impact on the environment, is a non-model species that lacks a reference genome. Characterising genes critical for pregnancy outcome can serve as a basis for identifying mechanisms underlying effective reproduction, which is required for the success of endangered species conservation programs. In the present study, high-throughput RNA sequencing (RNA-seq) was used to analyse global changes in the Castor fiber subplacenta transcriptome during multiple pregnancy...
February 14, 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/28192974/combinatorial-strategy-to-identify-fluorescent-probes-for-biothiol-and-thiophenol-based-on-diversified-pyrimidine-moieties-and-their-biological-applications
#19
Xilei Xie, Mengmeng Li, Fuyan Tang, Yong Li, Leilei Zhang, Xiaoyun Jiao, Xu Wang, Bo Tang
We present a feasible paradigm of developing original fluorescent probes for target biomolecules via combinatorial chemistry. In this developmental program, pyrimidine moieties were investigated and optimized as unique recognition units for thiols for the first time through a parallel synthesis in combination with a rapid screening process. This time-efficient and cost-saving process effectively facilitated the developmental progress and provided detailed structure-reactivity relationships. As a result, Res-Biot and Flu-Pht were identified as optimal fluorescent probes for biothiol and thiophenol, respectively...
February 15, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28192818/-benefits-of-measures-to-promote-development-in-language-mathematics-and-singing-in-kindergardeners-analysis-of-data-collected-at-school-entrance-examination-in-the-county-of-biberach
#20
Ulrike Hart, Manfred Wildner, Daniela Krämer, Alexander Crispin
To evaluate the benefits of implementing measures to promote skills in the areas of language, mathematics and singing in kindergardeners by statistical analysis of data collected during the school entrance examination (ESU) of 4-5-year-old children from the county of Biberach. Study 1 employs multivariate regression analysis to analyse - in chronological order - the ESU data on 4 cohorts (2011-2014; n=7 148) of children of the Biberach county. Study 2 qualitatively compares identical data representative of the entire state of Baden-Württemberg (N=3×80 000) with the Biberach results...
February 13, 2017: Das Gesundheitswesen
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