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https://www.readbyqxmd.com/read/29142765/duplication-of-19p13-3-in-11-year-old-male-patient-with-dysmorphic-features-and-intellectual-disability-a-review
#1
Irina Novikova, Paushpala Sen, Ann Manzardo, Merlin G Butler
We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142333/approaches-to-macroevolution-1-general-concepts-and-origin-of-variation
#2
David Jablonski
Approaches to macroevolution require integration of its two fundamental components, i.e. the origin and the sorting of variation, in a hierarchical framework. Macroevolution occurs in multiple currencies that are only loosely correlated, notably taxonomic diversity, morphological disparity, and functional variety. The origin of variation within this conceptual framework is increasingly understood in developmental terms, with the semi-hierarchical structure of gene regulatory networks (GRNs, used here in a broad sense incorporating not just the genetic circuitry per se but the factors controlling the timing and location of gene expression and repression), the non-linear relation between magnitude of genetic change and the phenotypic results, the evolutionary potential of co-opting existing GRNs, and developmental responsiveness to nongenetic signals (i...
2017: Evolutionary Biology
https://www.readbyqxmd.com/read/29133184/jnk-is-antagonized-to-ensure-the-correct-number-of-interommatidial-cells-pattern-the-drosophila-retina
#3
Henry L Bushnell, Christina E Feiler, Kwami F Ketosugbo, Mark B Hellerman, Valerie L Nazzaro, Ruth I Johnson
Apoptosis is crucial during the morphogenesis of most organs and tissues, and is utilized for tissues to achieve their proper size, shape and patterning. Many signaling pathways contribute to the precise regulation of apoptosis. Here we show that Jun N-terminal Kinase (JNK) activity contributes to the coordinated removal of interommatidial cells via apoptosis in the Drosophila pupal retina. This is consistent with previous findings that JNK activity promotes apoptosis in other epithelia. However, we found that JNK activity is repressed by Cindr (the CIN85 and CD2AP ortholog) in order to promote cell survival...
November 10, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29126862/cortical-activity-in-fine-motor-tasks-in-children-with-developmental-coordination-disorder-a-preliminary-fnirs-study
#4
Priscila Caçola, Nancy Getchell, Dhivya Srinivasan, Georgios Alexandrakis, Hanli Liu
Developmental Coordination Disorder (DCD) is as a neurodevelopmental condition characterized by poor motor proficiency, which impacts academic performance and activities of daily living. Several studies have determined that children with DCD activate different regions of the brain when performing motor skills in comparison to typically developing (TD) children. However, none have used Functional Near-Infrared Spectroscopy (fNIRS) to explore cortical activation in this population. With that, the goal of this preliminary study was to investigate cortical activation using fNIRS in six children with DCD and six TD children between ages of 8 and 12 years...
November 7, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29123539/the-ap2-erf-transcription-factor-drnl-modulates-gynoecium-development-and-affects-its-response-to-cytokinin
#5
Yolanda Durán-Medina, Joanna Serwatowska, J Irepan Reyes-Olalde, Stefan de Folter, Nayelli Marsch-Martínez
The gynoecium is the female reproductive system in flowering plants. It is a complex structure formed by different tissues, some that are essential for reproduction and others that facilitate the fertilization process and nurture and protect the developing seeds. The coordinated development of these different tissues during the formation of the gynoecium is important for reproductive success. Both hormones and genetic regulators guide the development of the different tissues. Auxin and cytokinin in particular have been found to play important roles in this process...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29123533/identifying-developmental-zones-in-maize-lateral-root-cell-length-profiles-using-multiple-change-point-models
#6
Beatriz Moreno-Ortega, Guillaume Fort, Bertrand Muller, Yann Guédon
The identification of the limits between the cell division, elongation and mature zones in the root apex is still a matter of controversy when methods based on cellular features, molecular markers or kinematics are compared while methods based on cell length profiles have been comparatively underexplored. Segmentation models were developed to identify developmental zones within a root apex on the basis of epidermal cell length profiles. Heteroscedastic piecewise linear models were estimated for maize lateral roots of various lengths of both wild type and two mutants affected in auxin signaling (rtcs and rum-1)...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29121339/conserved-non-coding-elements-developmental-gene-regulation-meets-genome-organization
#7
Dimitris Polychronopoulos, James W D King, Alexander J Nash, Ge Tan, Boris Lenhard
Comparative genomics has revealed a class of non-protein-coding genomic sequences that display an extraordinary degree of conservation between two or more organisms, regularly exceeding that found within protein-coding exons. These elements, collectively referred to as conserved non-coding elements (CNEs), are non-randomly distributed across chromosomes and tend to cluster in the vicinity of genes with regulatory roles in multicellular development and differentiation. CNEs are organized into functional ensembles called genomic regulatory blocks-dense clusters of elements that collectively coordinate the expression of shared target genes, and whose span in many cases coincides with topologically associated domains...
November 7, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29118207/emerging-mechanisms-underlying-dynamics-of-gabaergic-synapses
#8
Arianna Maffei, Cécile Charrier, Maddalena Delma Caiati, Andrea Barberis, Vivek Mahadevan, Melanie A Woodin, Shiva K Tyagarajan
Inhibitory circuits are diverse, yet with a poorly understood cell biology. Functional characterization of distinct inhibitory neuron subtypes has not been sufficient to explain how GABAergic neurotransmission sculpts principal cell activity in a relevant fashion. Our Mini-Symposium brings together several emerging mechanisms that modulate GABAergic neurotransmission dynamically from either the presynaptic or the postsynaptic site. The first two talks discuss novel developmental and neuronal subtype-specific contributions to the excitatory/inhibitory balance and circuit maturation...
November 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29118190/juvenile-hormone-and-20-hydroxyecdysone-coordinately-control-the-developmental-timing-of-matrix-metalloproteinase-induced-fat-body-cell-dissociation
#9
Qiangqiang Jia, Suning Liu, Di Wen, Yongxu Cheng, William G Bendena, Jian Wang, Sheng Li
Tissue remodeling is a crucial process in animal development and disease progression. Coordinately controlled by the two main insect hormones, juvenile hormone (JH) and 20-hydroxyecdysone (20E), tissues are remodeled context-specifically during insect metamorphosis. We previously discovered that two matrix metalloproteinases (Mmps) cooperatively induce fat body cell dissociation in Drosophila. However, the molecular events involved in this Mmps-mediated dissociation are unclear. Here we report that JH and 20E coordinately and precisely control the developmental timing of Mmps-induced fat body cell dissociation...
November 8, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29114251/a-role-for-the-transcription-factor-arid3a-in-mouse-b2-lymphocyte-expansion-and-peritoneal-b1a-generation
#10
Katrin Habir, Shahin Aeinehband, Fredrik Wermeling, Stephen Malin
The initiation, commitment, and terminal differentiation of the B cell lineage is stringently controlled by the coordinated action of various transcription factors. Among these, Arid3a has previously been implicated in regulating early B lymphopoiesis, humoral immune responses to phosphocholine, and furthermore to promote the B1 over the B2 cell lineage. We have now interrogated the function of Arid3a in the adult mouse using conditional mutagenesis. We demonstrate that loss of Arid3a does not affect early B cell development or lineage commitment but rather loss of this transcription factor results in a broad expansion of bone marrow B lymphopoiesis in a manner that reflects its developmental expression pattern...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29113110/two-paralogous-genes-encoding-auxin-efflux-carrier-differentially-expressed-in-bitter-gourd-momordica-charantia
#11
Yi-Li Li, Yun-Shan Lin, Pung-Ling Huang, Yi-Yin Do
The phytohormone auxin regulates various developmental programs in plants, including cell growth, cell division and cell differentiation. The auxin efflux carriers are essential for the auxin transport. To show an involvement of auxin transporters in the coordination of fruit development in bitter gourd, a juicy fruit, we isolated novel cDNAs (referred as McPIN) encoding putative auxin efflux carriers, including McPIN1, McPIN2 (allele of McPIN1) and McPIN3, from developing fruits of bitter gourd. Both McPIN1 and McPIN3 genes possess six exons and five introns...
November 6, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29111710/effect-of-pachybasin-on-general-toxicity-and-developmental-toxicity-in-vivo
#12
Yi-Ruu Lin, Ming-Huan Chan, Huan-Lin Peng, Kou-Cheng Peng, Shu-Ying Liu
In order to document the safety of pachybasin, a secondary metabolite of Trichoderma harzianum, for use as a bio-agricultural agent, it was subjected to general toxicological testing in mice and developmental toxicity in zebrafish. With either 5 or 20 mg kg-1 pachybasin i.p. injection, mice behavioral responses such as motor coordination, spontaneous locomotor activity, or nociceptive pain was not influenced. In long-term effect (daily injection for 14 days), the physiological, haematological, liver, and kidney functions were not altered either...
November 7, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/29108016/behavioral-and-pathophysiological-outcomes-associated-with-caffeine-consumption-and-repetitive-mild-traumatic-brain-injury-rmtbi-in-adolescent-rats
#13
Glenn R Yamakawa, Connor Lengkeek, Sabrina Salberg, Simon C Spanswick, Richelle Mychasiuk
Given that caffeine consumption is exponentially rising in adolescents and they are at increased risk for repetitive mild traumatic brain injury (RmTBI), we sought to examine the pathophysiological outcomes associated with early life caffeine consumption and RmTBI. Adolescent male and female Sprague Dawley rats received either caffeine in the drinking water or normal water and were then randomly assigned to 3 mild injuries using our lateral impact device or 3 sham procedures. Following injury induction, behavioral outcomes were measured with a test battery designed to examine symptoms consistent with clinical manifestation of PCS (balance and motor coordination, anxiety, short-term working memory, and depressive-like behaviours)...
2017: PloS One
https://www.readbyqxmd.com/read/29106906/transcriptional-regulation-of-nfix-by-nfib-drives-astrocytic-maturation-within-the-developing-spinal-cord
#14
Elise Matuzelski, Jens Bunt, Danyon Harkins, Jonathan W C Lim, Richard M Gronostajski, Linda J Richards, Lachlan Harris, Michael Piper
During mouse spinal cord development, ventricular zone progenitor cells transition from producing neurons to producing glia at approximately embryonic day 11.5, a process known as the gliogenic switch. The transcription factors Nuclear Factor I (NFI) A and B initiate this developmental transition, but the contribution of a third NFI member, NFIX, remains unknown. Here, we reveal that ventricular zone progenitor cells within the spinal cord express NFIX after the onset of NFIA and NFIB expression, and after the gliogenic switch has occurred...
October 26, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29106864/six-month-old-infants-with-deformational-plagiocephaly-do-not-differ-from-unaffected-infants-with-respect-to-vocal-control
#15
Kathleen Wermke, Christian Linz, Annette Hasenberg, Felix Kunz, Philipp Meyer-Marcotty, Tilmann Schweitzer
OBJECTIVES: The recommendation of a supine sleeping position led to a significant reduction of SIDS, but increased positional skull deformities (DP). Here, a quantitative analysis of babbling aims to complement previous studies of language-relevant competence based on items of the Bayley-scales that suggested the presence of developmental language delays in DP infants. Measures of fundamental frequency variability as proxies for vocal control are well suited for testing this assumption, since the laryngeal neuro-muscular system matures early and is coupled with brain function while working rapidly in coordinating the structures and mechanisms involved in infant sound production...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29104520/metabolomic-analysis-of-tomato-seed-germination
#16
Rashid H Kazmi, Leo A J Willems, Ronny V L Joosen, Noorullah Khan, Wilco Ligterink, Henk W M Hilhorst
Introduction: Seed germination is inherently related to seed metabolism, which changes throughout its maturation, desiccation and germination processes. The metabolite content of a seed and its ability to germinate are determined by underlying genetic architecture and environmental effects during development. Objective: This study aimed to assess an integrative approach to explore genetics modulating seed metabolism in different developmental stages and the link between seed metabolic- and germination traits...
2017: Metabolomics: Official Journal of the Metabolomic Society
https://www.readbyqxmd.com/read/29104120/methylmercury-exposure-causes-a-persistent-inhibition-of-myogenin-expression-and-c2c12-myoblast-differentiation
#17
Lisa M Prince, Matthew D Rand
Methylmercury (MeHg) is a ubiquitous environmental toxicant, best known for its selective targeting of the developing nervous system. MeHg exposure has been shown to cause motor deficits such as impaired gait and coordination, muscle weakness, and muscle atrophy, which have been associated with disruption of motor neurons. However, recent studies have suggested that muscle may also be a target of MeHg toxicity, both in the context of developmental myogenic events and of low-level chronic exposures affecting muscle wasting in aging...
November 2, 2017: Toxicology
https://www.readbyqxmd.com/read/29100916/molecular-characterization-ontogeny-and-expression-profiling-of-mitochondrial-antiviral-signaling-adapter-mavs-from-asian-seabass-lates-calcarifer-bloch-1790
#18
Rahul Krishnan, P Girish Babu, K Jeena, Gayathri Tripathi, Kurcheti Pani Prasad
Mitochondrial antiviral signaling protein (MAVS), an innate immune signaling adapter coordinates the signals received from two independent cytosolic pathogen recognition receptors (RIG-1 and MDA5) to induce antiviral genes. In the present study the MAVS gene of Lates calcarifer (LcMAVS) was cloned and characterized. The complete cDNA sequence of LcMAVS was 3160 bp and encodes a poly peptide of 577 amino acids. Structural analysis of LcMAVS revealed an N-terminal CARD-like domain, central proline-rich domain and a C-terminal transmembrane domain...
October 31, 2017: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/29097958/unresolved-congenital-torticollis-and-its-consequences-a-report-of-2-cases
#19
Mette Hobaek Siegenthaler
Objective: The purpose of this report was to describe the clinical presentation and case management of 2 children with congenital torticollis. Clinical Features: Two male children (ages 6 and 10 years) presented to a chiropractic clinic with a history of congenital torticollis. They showed signs and symptoms of postural deficiency and developmental delay: posterior plagiocephaly, facial scoliosis, head tilt, compensatory thoracic scoliosis, decreased range of motion in the cervical spine, palpable decreased segmental motion of the upper cervical spine, and an age-related delay in throwing and catching a ball and in one-leg standing...
September 2017: Journal of Chiropractic Medicine
https://www.readbyqxmd.com/read/29095486/critical-disease-windows-shaped-by-stress-exposure-alter-allocation-trade-offs-between-development-and-immunity
#20
Lucas J Kirschman, Erica J Crespi, Robin W Warne
1.Ubiquitous environmental stressors are often thought to alter animal susceptibility to pathogens and contribute to disease emergence. However, duration of exposure to a stressor is likely critical, because while chronic stress is often immunosuppressive, acute stress can temporarily enhance immune function. Furthermore, host susceptibility to stress and disease often varies with ontogeny; increasing during critical developmental windows. How the duration and timing of exposure to stressors interact to shape critical windows and influence disease processes is not well tested...
November 2, 2017: Journal of Animal Ecology
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