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Journal of Neurogenetics

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https://www.readbyqxmd.com/read/28812418/neurotoxicity-of-cgmp-in-the-vertebrate-retina-from-the-initial-research-on-rd-mutant-mice-to-zebrafish-genetic-approaches
#1
Maria Iribarne, Ichiro Masai
Zebrafish are an excellent animal model for research on vertebrate development and human diseases. Sophisticated genetic tools including large-scale mutagenesis methodology make zebrafish useful for studying neuronal degenerative diseases. Here, we review zebrafish models of inherited ophthalmic diseases, focusing on cGMP metabolism in photoreceptors. cGMP is the second messenger of phototransduction, and abnormal cGMP levels are associated with photoreceptor death. cGMP concentration represents a balance between cGMP phosphodiesterase 6 (PDE6) and guanylate cyclase (GC) activities in photoreceptors...
August 16, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28812416/role-of-branchiomotor-neurons-in-controlling-food-intake-of-zebrafish-larvae
#2
James R Allen, Kiran D Bhattacharyya, Emilia Asante, Badr Almadi, Kyle Schafer, Jeremy Davis, Jane Cox, Mark Voigt, John A Viator, Anand Chandrasekhar
The physical act of eating or feeding involves the coordinated action of several organs like eyes and jaws, and associated neural networks. Moreover, the activity of the neural networks controlling jaw movements (branchiomotor circuits) is regulated by the visual, olfactory, gustatory and hypothalamic systems, which are largely well characterized at the physiological level. By contrast, the behavioral output of the branchiomotor circuits and the functional consequences of disruption of these circuits by abnormal neural development are poorly understood...
August 16, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28797199/the-power-of-projectomes-genetic-mosaic-labeling-in-the-larval-zebrafish-brain-reveals-organizing-principles-of-sensory-circuits
#3
Estuardo Robles
In no vertebrate species do we possess an accurate, comprehensive tally of neuron types in the brain. This is in no small part due to the vast diversity of neuronal types that comprise complex vertebrate nervous systems. A fundamental goal of neuroscience is to construct comprehensive catalogs of cell types defined by structure, connectivity, and physiological response properties. This type of information will be invaluable for generating models of how assemblies of neurons encode and distribute sensory information and correspondingly alter behavior...
August 10, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28789587/light-on-a-sensory-interface-linking-the-cerebrospinal-fluid-to-motor-circuits-in-vertebrates
#4
Lydia Djenoune, Claire Wyart
The cerebrospinal fluid (CSF) is circulating around the entire central nervous system (CNS). The main function of the CSF has been thought to insure the global homeostasis of the CNS. Recent evidence indicates that the CSF also dynamically conveys signals modulating the development and the activity of the nervous system. The later observation implies that cues from the CSF could act on neurons in the brain and the spinal cord via bordering receptor cells. Candidate neurons to enable such modulation are the cerebrospinal fluid-contacting neurons (CSF-cNs) that are located precisely at the interface between the CSF and neuronal circuits...
August 8, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28762842/molecular-bases-of-anorexia-nervosa-bulimia-nervosa-and-binge-eating-disorder-shedding-light-on-the-darkness
#5
Germán Cuesto, Claude Everaerts, Leticia G León, Angel Acebes
Eating-disorders (EDs) consequences to human health are devastating, involving social, mental, emotional, physical and life-threatening aspects, concluding on impairment and death in cases of extreme anorexia nervosa. It also implies that people suffering an ED need to find psychiatric and psychological help as soon as possible to achieve a fully physical and emotional recovery. Unfortunately, to date, there is a crucial lack of efficient clinical treatment to these disorders. In this review, we present an overview concerning the actual pharmacological and psychological treatments, the knowledge of cells, circuits, neuropeptides, neuromodulators and hormones in the human brain- and other organs- underlying these disorders, the studies in animal models and, finally, the genetic approaches devoted to face this challenge...
August 1, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28714806/loss-of-control-over-the-ethanol-consumption-differential-transcriptional-regulation-in-prefrontal-cortex
#6
Carolina de Paiva Lima, Daniel Almeida da Silva E Silva, Samara Damasceno, Andrea Frozino Ribeiro, Cristiane S Rocha, Alexandre H Berenguer de Matos, Diego Correia, Roseli Boerngen-Lacerda, Ana Lúcia Brunialti Godard
Alcohol use disorder (AUD) is a complex multifactorial disease with heritability of ∼50% and corresponds to the state in which the body triggers a reinforcement or reward compulsive behavior due to ethanol consumption, even when faced with negative consequences. Although several studies have shown the impact of high ethanol intake on the prefrontal cortex (PFC) gene expression, few have addressed the relationship between the patterns of gene expression underlying the compulsive behaviour associated with relapsing...
July 17, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28705044/the-genetics-of-hair-cell-function-in-zebrafish
#7
Teresa Nicolson
Our ears are remarkable sensory organs, providing the important senses of balance and hearing. The complex structure of the inner ear, or 'labyrinth', along with the assorted neuroepithelia, have evolved to detect head movements and sounds with impressive sensitivity. The rub is that the inner ear is highly vulnerable to genetic lesions and environmental insults. According to National Institute of Health estimates, hearing loss is one of the most commonly inherited or acquired sensorineural diseases. To understand the causes of deafness and balance disorders, it is imperative to understand the underlying biology of the inner ear, especially the inner workings of the sensory receptors...
July 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28687063/lgmd2e-is-the-most-common-type-of-sarcoglycanopathies-in-the-iranian-population
#8
Afagh Alavi, Sara Esmaeili, Yalda Nilipour, Shahriar Nafissi, Seyed Hasan Tonekaboni, Gholamreza Zamani, Mahmoud Reza Ashrafi, Kimia Kahrizi, Hossein Najmabadi, Fatemeh Jazayeri
Sarcoglycanopathies (SGCs) which are caused by mutations in SGCA, SGCB, SGCG or SGCD genes are a subgroup of autosomal-recessive limb-girdle-muscular-dystrophies (LGMD2). Although frequencies of mutations in these genes are different among populations, mutations in SGCA and SGCD, respectively, have the highest and lowest frequencies in most populations. Here, we report the proportion of mutations in SGC genes among a group of Iranian SGCs patients. Clinical features and results of SGC genes screening of 25 SGCs probands are presented...
July 7, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28678579/heritable-natural-variation-of-an-anxiety-like-behavior-in-larval-zebrafish
#9
Mahendra Wagle, Juliana Nguyen, Shinwoo Lee, Noah Zaitlen, Su Guo
Complex behaviors are often observed at a spectrum in the population, and psychiatric disorders represent extremes of such behavioral spectra. While grasping the underlying cellular and molecular basis of these disorders represents a major challenge, it is believed that studies of complex behaviors in model organisms, where genotyping and phenotyping can be more conveniently carried out and cause-effect relationships can be further discerned, will help address this challenge. Here we report the characterization of a natural dark aversion behavior in larval zebrafish, which is previously shown to be fear or anxiety-associated...
July 5, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28678567/genetic-approaches-to-retinal-research-in-zebrafish
#10
Stephanie Niklaus, Stephan C F Neuhauss
The zebrafish (Danio rerio) possesses a vertebrate-type retina that is extraordinarily conserved in evolution. This well-organized and anatomically easily accessible part of the central nervous system has been widely investigated in zebrafish, promoting general understanding of retinal development, morphology, function and associated diseases. Over the recent years, genome and protein engineering as well as imaging techniques have experienced revolutionary advances and innovations, creating new possibilities and methods to study zebrafish development and function...
July 5, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28635355/aberrant-wnt-signaling-a-special-focus-in-cns-diseases
#11
Mercedes Arnés, Sergio Casas Tintó
Wnt signals regulate cell proliferation, migration and differentiation during development, as well as synaptic transmission and plasticity in the adult brain. Abnormal Wnt signaling is central to a number of brain pathologies. We review here, the significance of this pathway focused in the contribution of the most frequent alterations in receptors, secretable modulators and downstream targets in Alzheimer's disease (AD) and Glioblastoma (GBM). β-catenin and GSK3 levels are pivotal in the neurodegeneration associated to AD contributing to memory deficits, tau phosphorylation, increased β-amyloid production and modulation of Apolipoprotein E in the brain...
June 21, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28609135/primary-familial-brain-calcifications-linked-with-a-novel-slc20a2-gene-mutation-in-a-chinese-family
#12
Tao-Mian Mi, Wei Mao, Yan-Ning Cai, Cai-Xia Yang, Chao-Dong Wang, Er-He Xu, Hui Zhang, Piu Chan
It has been recently reported that mutations in SLC20A2 gene are a major cause of primary familial brain calcifications, a rare neurodegenerative disorder characterized by symmetrical and bilateral intracranial calcification. We conducted a pedigree study by performing next Generation Sequencing in a Chinese family with three generations. Three members in this family developed Parkinsonism in their sixth decade, also, the proband presented with schizophrenia for 40 years. Next Generation Sequencing identified a novel nonsense heterozygous substitution c...
June 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28608743/obsessive-compulsive-disorder-which-genes-which-functions-which-pathways-an-integrated-holistic-view-regarding-ocd-and-its-complex-genetic-etiology
#13
Ali Bozorgmehr, Mohammad Ghadirivasfi, Esmaeil Shahsavand Ananloo
Obsessive-compulsive disorder (OCD) is characterized by recurrent obtrusive and repetitive acts typically occurred following anxiety. In the last two decades, studies done on the gene sequences, large-scale and point mutations and gene-gene, gene-environment and gene-drug interactions have led to the discovery of hundreds of genes associated with OCD. Although each gene in turn is a part of the etiology of this disorder; however, OCD, like other mental disorders is complex and a comprehensive and integrated view is necessary to understand its genetic basis...
June 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28508690/gene-polymorphisms-associated-with-temperament
#14
Xiaoyan Qiu, Graeme B Martin, Dominique Blache
When individuals are exposed to stressful environmental challenges, the response varies widely in one or more of three components: psychology, behavior and physiology. This variability among individuals can be defined as temperament. In recent years, an increasing large body of evidence suggests that the dimensions of temperament, as well as personality, psychological disorders and behavioral traits, are influenced by genetic factors, and much of the variation appears to involve variation in genes or gene polymorphisms in the hypothalamic-pituitary-adrenocortical (HPA) axis and the behavior-controlling neurotransmitter networks...
May 16, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28502191/a-novel-mutation-in-als2-associated-with-severe-and-progressive-infantile-onset-of-spastic-paralysis
#15
Huma Tariq, Shahid Mukhtar, Sadaf Naz
Infantile onset ascending spastic paralysis (IAHSP) is a type of recessively inherited spastic paraplegia. We investigated the clinical and genetic cause of a recessively inherited disorder in two siblings manifesting severe spasticity in the lower limbs which hindered their gait. A novel homozygous nonsense mutation c.1918 C > T (p.Arg640*) was identified after whole-exome sequencing within ALS2 in the DNA of both patients. The obligate carriers were heterozygous for the mutation and other unaffected members were homozygous for the wild type allele...
May 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28460589/expanding-the-phenotypic-spectrum-of-gabrg2-variants-a-recurrent-gabrg2-missense-variant-associated-with-a-severe-phenotype
#16
Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D Picker, Sharyn Lincoln, David A Sweetser, Lauren C Briere, Chellamani Harini, Eric Marsh, Livija Medne, Raymond Y Wang, Karen Leydiker, Andrew Mower, Gepke Visser, Inge Cuppen, Koen L van Gassen, Jasper van der Smagt, Adeel Yousaf, Michael Tennison, Anita Shanmugham, Elizabeth Butler, Gabriele Richard, Dianalee McKnight
Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c0.316 G > A; p.A106T) in the GABRG2 gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported for GABRG2 missense variants...
May 2, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28552035/novel-pnkp-mutation-in-siblings-with-ataxia-oculomotor-apraxia-type-4
#17
Nicoline Schiess, David S Zee, Khurram A Siddiqui, Miklos Szolics, Ayman W El-Hattab
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a novel PNKP mutation in two siblings with progressive ataxia, abnormal saccades, sensorimotor neuropathy and dystonia consistent with the AOA type 4 phenotype. Laboratory evaluation revealed hypoalbuminemia, hypercholesterolemia with elevated LDL, elevated IgE levels and normal α fetoprotein levels...
March 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28552034/quantitative-analysis-of-visually-induced-courtship-elements-in-drosophila-subobscura
#18
Tomohiro Higuchi, Soh Kohatsu, Daisuke Yamamoto
We developed a new paradigm for quantitative analysis of courtship behavior in flies, Fly Motion-detector with an Actuator-Coupled Stimulator (FlyMacs), in which the stimulation of a fly with a moving visual target and recording of induced behaviors are automated under computer control. We employ FlyMacs for the identification of motion features that trigger specific courtship elements in Drosophila subobscura, whose mating is suggested to be strongly vision dependent. A female abdomen attached to the actuator, when moved in an appropriate pattern, evokes in the test male tapping-like foreleg motions, midleg swing and proboscis extension, which are considered to be elementary actions in male courtship behavior...
March 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28316265/drift-diffusion-model-of-reward-and-punishment-learning-in-rare-alpha-synuclein-gene-carriers
#19
Ahmed A Moustafa, Szabolcs Kéri, Bertalan Polner, Corey White
To understand the cognitive effects of alpha-synuclein polymorphism, we employed a drift diffusion model (DDM) to analyze reward- and punishment-guided probabilistic learning task data of participants with the rare alpha-synuclein gene duplication and age- and education-matched controls. Overall, the DDM analysis showed that, relative to controls, asymptomatic alpha-synuclein gene duplication carriers had significantly increased learning from negative feedback, while they tended to show impaired learning from positive feedback...
March 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28019127/astroglial-transcriptome-dysregulation-in-early-disease-of-an-als-mutant-sod1-mouse-model
#20
Sean J Miller, Ping-Wu Zhang, Jenna Glatzer, Jeffrey D Rothstein
Astroglia are a morphologically diverse and highly abundant cell type in the CNS. Despite these obvious observations, astroglia still remain largely uncharacterized at the cellular and molecular level. In disease contexts such as amyotrophic lateral sclerosis (ALS), it has been widely shown that astroglia downregulate crucial physiological functions, become hypertrophied, reactive, and toxic to motor neurons. However, little is known about the astroglia-specific transcriptomic changes that occur during ALS disease progression, especially early in disease...
December 25, 2016: Journal of Neurogenetics
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