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Vertebral development

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https://www.readbyqxmd.com/read/28087737/a-homozygous-mutation-in-trim36-causes-autosomal-recessive-anencephaly-in-an-indian-family
#1
Nivedita Singh, Vishwanath Kumble Bhat, Ankana Tiwari, Srinivas G Kodaganur, Sagar J Tontanahal, Astha Sarda, K V Malini, Arun Kumar
Anencephaly is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to anencephaly. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of anencephaly has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C>A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive anencephaly (APH) in an Indian family...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087735/relationships-linking-emotional-motor-cognitive-and-gabaergic-dysfunctions-in-dystrophin-deficient-mdx-mice
#2
Cyrille Vaillend, Rémi Chaussenot
Alterations in the Duchenne muscular dystrophy (DMD) gene have been associated with enhanced stress reactivity in vertebrate species, suggesting a role for brain dystrophin in fear-related behavioral and cognitive processes. Because the loss of dystrophin (Dp427) reduces clustering of central GABAA receptors, it is suspected that local inhibitory tuning and modulation of neuronal excitability are perturbed in a distributed brain circuit that normally controls such critical behavioral functions. In this study we undertook a large-scale behavioral study to evaluate fear-related behavioral disturbances in dystrophin-deficient mdx mice...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087639/vegfd-modulates-both-angiogenesis-and-lymphangiogenesis-during-zebrafish-embryonic-development
#3
Neil I Bower, Adam J Vogrin, Ludovic Le Guen, Huijun Chen, Steven A Stacker, Marc G Achen, Benjamin M Hogan
Vascular endothelial growth factors (VEGFs) control angiogenesis and lymphangiogenesis during development and in pathological conditions. In the zebrafish trunk, Vegfa controls the formation of intersegmental arteries by primary angiogenesis and Vegfc is essential for secondary angiogenesis, the formation of veins and lymphatics. VEGFD has been largely thought of as dispensable for vascular development in vertebrates. Here, we generated a zebrafish vegfd mutant by genome editing. vegfd mutants display significant defects in facial lymphangiogenesis independent of vegfc function...
January 13, 2017: Development
https://www.readbyqxmd.com/read/28087459/wnt-signaling-balances-specification-of-the-cardiac-and-pharyngeal-muscle-fields
#4
Amrita Mandal, Andrew Holowiecki, Yuntao Charlie Song, Joshua S Waxman
Canonical Wnt/β-catenin (Wnt) signaling plays multiple conserved roles during fate specification of cardiac progenitors in developing vertebrate embryos. Although lineage analysis in ascidians and mice has indicated there is a close relationship between the cardiac second heart field (SHF) and pharyngeal muscle (PM) progenitors, the signals underlying directional fate decisions of the cells within the cardio-pharyngeal muscle field in vertebrates are not yet understood. Here, we examined the temporal requirements of Wnt signaling in cardiac and PM development...
January 10, 2017: Mechanisms of Development
https://www.readbyqxmd.com/read/28087301/molecular-characterization-and-quantification-of-estrogen-receptors-in-turbot-scophthalmus-maximus
#5
Peng Hu, Zheng Meng, Yudong Jia
Estrogens regulate various reproductive processes via estrogen receptor (ER)-mediated signaling pathway in vertebrates. In this study, full-length sequences coding for ERα, ERβ1 and ERβ2 were isolated from female turbot (Scophthalmus maximus) by homology cloning and a strategy based on rapid amplification of cDNA end-polymerase chain reaction (RACE-PCR). The nucleotide and amino acid sequences of turbot ERs showed high homologies with the corresponding sequences of other fish species and significant homology with the Japaenese flounder (Paralichthys olivaceus) and the European sea bass (Dicentrarchus labrax)...
January 10, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28086748/genetic-mechanisms-of-bone-digestion-and-nutrient-absorption-in-the-bone-eating-worm-osedax-japonicus-inferred-from-transcriptome-and-gene-expression-analyses
#6
Norio Miyamoto, Masa-Aki Yoshida, Hiroyuki Koga, Yoshihiro Fujiwara
BACKGROUND: Bone-eating worms of the genus Osedax (Annelida, Siboglinidae) have adapted to whale fall environments by acquiring a novel characteristic called the root, which branches and penetrates into sunken bones. The worms lack a digestive tract and mouth opening, and it has been suggested that Osedax degrade vertebrate bones and uptake nutrients through acidification and secretion of enzymes from the root. Symbiotic bacteria in the root tissue may have a crucial role in the metabolism of Osedax...
January 13, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28079810/risk-of-vertebral-compression-fractures-in-multiple-myeloma-patients-a-finite-element-study
#7
D Anitha, Baum Thomas, Kirschke S Jan, Karupppasamy Subburaj
The purpose of this study was to develop and validate a finite element (FE) model to predict vertebral bone strength in vitro using multidetector computed tomography (MDCT) images in multiple myeloma (MM) patients, to serve as a complementing tool to assess fracture risk. In addition, it also aims to differentiate MM patients with and without vertebral compression fractures (VCFs) by performing FE analysis on vertebra segments (T1-L5) obtained from in vivo routine MDCT imaging scans. MDCT-based FE models were developed from the in vitro vertebrae samples and were then applied to the in vivo vertebrae segments of MM patients (n = 4) after validation...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28079273/abnormal-fetal-muscle-forces-result-in-defects-in-spinal-curvature-and-alterations-in-vertebral-segmentation-and-shape
#8
Rebecca A Rolfe, James H Bezer, Tyler Kim, Ahmed Z Zaidon, Michelle L Oyen, James C Iatridis, Niamh C Nowlan
The incidence of congenital spine deformities, including congenital scoliosis, kyphosis and lordosis, may be influenced by the in utero mechanical environment, and particularly by fetal movements at critical time-points. There is a limited understanding of the influence of fetal movements on spinal development, despite the fact that mechanical forces have been shown to play an essential role in skeletal development of the limb. This study investigates the effects of muscle forces on spinal curvature, vertebral segmentation and vertebral shape by inducing rigid or flaccid paralysis in the embryonic chick...
January 12, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28078105/asymmetric-facial-bone-fragmentation-mirrors-asymmetric-distribution-of-cranial-neuromasts-in-blind-mexican-cavefish
#9
Joshua B Gross, Andrew Gangidine, Amanda K Powers
Craniofacial asymmetry is a convergent trait widely distributed across animals that colonize the extreme cave environment. Although craniofacial asymmetry can be discerned easily, other complex phenotypes (such as sensory organ position and numerical variation) are challenging to score and compare. Certain bones of the craniofacial complex demonstrate substantial asymmetry, and co-localize to regions harboring dramatically expanded numbers of mechanosensory neuromasts. To determine if a relationship exists between this expansion and bone fragmentation in cavefish, we developed a quantitative measure of positional symmetry across the left-right axis...
November 2016: Symmetry
https://www.readbyqxmd.com/read/28077779/embryonic-exposure-to-tcdd-impacts-osteogenesis-of-the-axial-skeleton-in-japanese-medaka-oryzias-latipes
#10
AtLee T D Watson, Antonio Planchart, Carolyn J Mattingly, Christoph Winkler, David M Reif, Seth W Kullman
Recent studies from mammalian, fish, and in vitro models have identified bone and cartilage development as sensitive targets for dioxins and other aryl hydrocarbon receptor ligands. In this study, we assess how embryonic 2,3,7,8-tetrachlorochlorodibenzo-p-dioxin (TCDD) exposure impacts axial osteogenesis in Japanese medaka (Oryzias latipes), a vertebrate model of human bone development. Embryos from inbred wild-type Orange-red Hd-dR and 3 transgenic medaka lines (twist:EGFP, osx/sp7:mCherry, col10a1:nlGFP) were exposed to 0...
November 15, 2016: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28075421/mx-is-not-responsible-for-the-antiviral-activity-of-interferon-%C3%AE-against-japanese-encephalitis-virus
#11
Jing Zhou, Shi-Qi Wang, Jian-Chao Wei, Xiao-Min Zhang, Zhi-Can Gao, Ke Liu, Zhi-Yong Ma, Pu-Yan Chen, Bin Zhou
Mx proteins are interferon (IFN)-induced dynamin-like GTPases that are present in all vertebrates and inhibit the replication of myriad viruses. However, the role Mx proteins play in IFN-mediated suppression of Japanese encephalitis virus (JEV) infection is unknown. In this study, we set out to investigate the effects of Mx1 and Mx2 expression on the interferon-α (IFNα) restriction of JEV replication. To evaluate whether the inhibitory activity of IFNα on JEV is dependent on Mx1 or Mx2, we knocked down Mx1 or Mx2 with siRNA in IFNα-treated PK-15 cells and BHK-21 cells, then challenged them with JEV; the production of progeny virus was assessed by plaque assay, RT-qPCR, and Western blotting...
January 10, 2017: Viruses
https://www.readbyqxmd.com/read/28075017/intrapopulation-variability-in-the-timing-of-ontogenetic-habitat-shifts-in-sea-turtles-revealed-using-%C3%AE-15-n-values-from-bone-growth-rings
#12
Calandra N Turner Tomaszewicz, Jeffrey A Seminoff, S Hoyt Peckham, Larisa Avens, Carolyn M Kurle
Determining location and timing of ontogenetic shifts in the habitat use of highly migratory species, along with possible intrapopulation variation in these shifts, is essential for understanding mechanisms driving alternate life histories and assessing overall population trends. Measuring variations in multi-year habitat-use patterns is especially difficult for remote oceanic species. To investigate the potential for differential habitat use among migratory marine vertebrates, we measured the naturally occurring stable nitrogen isotope (δ(15) N) patterns that differentiate distinct ocean regions to create a 'regional isotope characterization', analysed the δ(15) N values from annual bone growth layer rings from dead-stranded animals, and then combined the bone and regional isotope data to track individual animal movement patterns over multiple years...
January 11, 2017: Journal of Animal Ecology
https://www.readbyqxmd.com/read/28073824/a-drosophila-toolkit-for-defining-gene-function-in-spermatogenesis
#13
Nicole A Siddall, Gary R Hime
Expression profiling and genomic sequencing methods enable the accumulation of vast quantities of data that relate to expression of genes during the maturation of male germ cells from primordial germ cells to spermatozoa, and potential mutations that underlie male infertility. However, determination of gene function in specific aspects of spermatogenesis or linking abnormal gene function with infertility remain rate limiting, as even in an era of CRISPR analysis of gene function in mammalian models, this still requires considerable resources and time...
January 10, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28072705/posterior-only-vertebral-column-resection-for-revision-surgery-in-post-laminectomy-rotokyphoscoliosis-associated-with-late-onset-paraplegia-a-case-report-and-literature-review
#14
Youping Tao, Jigong Wu, Huasong Ma
RATIONALE: Severe post-laminectomy spinal deformity associated with late-onset paraplegia is a complex and rare disorder. Little is known about revision surgery in post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia treated by the single stage posterior-only vertebral column resection (VCR) procedure. PATIENT CONCERNS AND DIAGNOSES: The patient was a 14-year-old male diagnosed as post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28071947/presacral-abscess-as-a-rare-complication-of-sacral-nerve-stimulator-implantation
#15
A Gumber, S Ayyar, H Varia, S Pettit
A 50-year-old man with intractable anal pain attributed to proctalgia fugax underwent insertion of a sacral nerve stimulator via the right S3 vertebral foramen for pain control with good symptomatic relief. Thirteen months later, he presented with signs of sepsis. Computed tomography (CT) and magnetic resonance imaging (MRI) showed a large presacral abscess. MRI demonstrated increased enhancement along the pathway of the stimulator electrode, indicating that the abscess was caused by infection introduced at the time of sacral nerve stimulator placement...
January 10, 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28071684/genome-wide-identification-of-novel-ovarian-predominant-mirnas-new-insights-from-the-medaka-oryzias-latipes
#16
Amine Bouchareb, Aurélie Le Cam, Jérôme Montfort, Stéphanie Gay, Thaovi Nguyen, Julien Bobe, Violette Thermes
MicroRNAs (miRNAs) are small, highly conserved non-coding RNAs that play important roles in the regulation of many physiological processes. However, the role of miRNAs in vertebrate oocyte formation (i.e., oogenesis) remains poorly investigated. To gain new insights into the roles of miRNAs in oogenesis, we searched for ovarian-predominant miRNAs. Using a microarray displaying 3,800 distinct miRNAs originating from different vertebrate species, we identified 66 miRNAs that are expressed predominantly in the ovary...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28070685/porcine-spine-finite-element-model-a-complementary-tool-to-experimental-scoliosis-fusionless-instrumentation
#17
Bahe Hachem, Carl-Eric Aubin, Stefan Parent
PURPOSE: Developing fusionless devices to treat pediatric scoliosis necessitates lengthy and expensive animal trials. The objective was to develop and validate a porcine spine numerical model as an alternative platform to assess fusionless devices. METHODS: A parametric finite element model (FEM) of an osseoligamentous porcine spine and rib cage, including the epiphyseal growth plates, was developed. A follower-type load replicated physiological and gravitational loads...
January 9, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28070614/outgroup-alignment-and-modelling-improvements-indicate-that-two-tnfsf13-like-genes-existed-in-the-vertebrate-ancestor
#18
Anthony K Redmond, Rita Pettinello, Helen Dooley
The molecular machinery required for lymphocyte development and differentiation appears to have emerged concomitantly with distinct B- and T-like lymphocyte subsets in the ancestor of all vertebrates. The TNFSF superfamily (TNFSF) members BAFF (TNFSF13/Blys) and APRIL (TNFSF13) are key regulators of B cell development survival, and activation in mammals, but the temporal emergence of these molecules, and their precise relationship to the newly identified TNFSF gene BALM (BAFF and APRIL-like molecule), have not yet been elucidated...
January 9, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28069465/effect-of-rnai-mediated-knockdown-of-nltor-gene-on-fertility-of-male-nilaparvata-lugens
#19
Ji-Chong Zhuo, Jian Xue, Jia-Bao Lu, Hai-Jian Huang, Hai-Jun Xu, Chuan-Xi Zhang
The target gene of rapamycin (TOR) is conserved from invertebrates to vertebrates, and plays critical roles in cell growth, nutrient sensing, lifespan and reproduction. In this paper, we employed RNA interference (RNAi) to study the function of TOR in male brown planthoppers (BPH), Nilaparvata lugens. Here we discovered that no offspring was produced when wildtype females BPH mated with NlTOR RNAi males. To understand the influence of NlTOR on male BPH infertility, we dissected the reproductive system of a NlTOR RNAi male, and found that the testes were normal and the seminal vesicles were full of sperm, while the accessory gland was poorly developed after knocking down NlTOR expression...
January 6, 2017: Journal of Insect Physiology
https://www.readbyqxmd.com/read/28069391/wireless-electrophysiology-of-the-brain-of-freely-swimming-goldfish
#20
Ehud Vinepinsky, Opher Donchin, Ronen Segev
BACKGROUND: Fish are a diverse group of vertebrates with very different brain structures. The study of the neurobiology of fish can thus lead to many important insights on information processing in the brain in a variety of environments. NEW METHOD: We developed a novel wireless technique to record extracellular neural signal activity in freely behaving fish. The system is based on a data logger and enables continues recording of up to 2.5hours. RESULTS: For proof of concept we recorded from the optic tectum of goldfish...
January 6, 2017: Journal of Neuroscience Methods
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