Variation in the vitamin D receptor gene is associated with multiple sclerosis in an Australian population.

abstract：:To date, less than 10 pedigrees have been reported with ZNF335 mutations since it was discovered in 2012 and little is known about ZNF335-related clinical spectrum. We describe a 12 years old male patient who is only child of nonconsanguineous Turkish parents. Trio whole genome sequencing identified previously unrepor...

journal_title：Journal of neurogenetics

authors： Caglayan AO,Yaghouti K,Kockaya T,Kemer D,Cankaya T,Ameziane N,Cogulu O,Coker M,Yalcinkaya C

更新日期：2020-11-20 00:00:00

abstract：:The shape of a neuron, its morphological signature, dictates the neuron's function by establishing its synaptic partnerships. Here, we review various anatomical methods used to reveal neuron shape and the contributions these have made to our current understanding of neural function in the Drosophila brain, especially ...

journal_title：Journal of neurogenetics

authors： Meinertzhagen IA,Takemura SY,Lu Z,Huang S,Gao S,Ting CY,Lee CH

更新日期：2009-01-01 00:00:00

abstract：:Single-gene mutants of Drosophila have not only increased our understanding of the biochemical processes underlying learning and memory processes, but also established structure-function relationships. The first relevant mutants were identified by Martin Heisenberg nearly 30 years ago in a screen for altered adult bra...

journal_title：Journal of neurogenetics

authors： Hovhanyan A,Raabe T

更新日期：2009-01-01 00:00:00

abstract：:This report contains additional observations on the cell lineage relationships of the motor neurons of the facial nucleus and of the cerebellar Purkinje cells of the mouse. These cell populations were quantitatively analyzed in the mosaic brains of experimental aggregation chimeras. The cell markers used to perform th...

journal_title：Journal of neurogenetics

authors： Herrup K,Wetts R,Diglio TJ

更新日期：1984-12-01 00:00:00

abstract：:A telomere is a repetitive DNA structure at chromosomal ends that stabilizes the chromosome structure and prevents harmful end-to-end recombinations. The telomere length of somatic cells becomes shorter with aging because of the "end replication problem." This telomere shortening is accelerated by pathophysiological c...

journal_title：Journal of neurogenetics

authors： Maeda T,Guan JZ,Koyanagi M,Higuchi Y,Makino N

更新日期：2012-06-01 00:00:00

abstract：:Inbred mice of the DBA/2J and C57BL/6J strains are known to differ in physiological and behavioral characteristics that are partially controlled by nuclei in the preoptic area/anterior hypothalamus. We describe a distinguishing nucleus of darkly staining, densely packed cells, which we term the medioventral pars compa...

journal_title：Journal of neurogenetics

authors： Robinson SM,Fox TO,Sidman RL

更新日期：1985-12-01 00:00:00

abstract：: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...

journal_title：Journal of neurogenetics

authors： Qiu X,Martin GB,Blache D

更新日期：2017-01-01 00:00:00

abstract：:SPG3A/atlastin-1 gene mutations cause an autosomal dominant form of hereditary spastic paraplegia (SPG3A-HSP). We used positron emission tomography with [(11)C]DTBZ to assess nigrostriatal dopaminergic integrity in two unrelated adults with SPG3A-HSP due to the common SPG3A/atlastin-1 mutation, R239C. Nigrostriatal do...

journal_title：Journal of neurogenetics

authors： Albin RL,Koeppe RA,Rainier S,Fink JK

更新日期：2008-01-01 00:00:00

abstract：:Sarcoglycanopathies (SGPs) constitute a subgroup of autosomal recessive limb girdle muscular dystrophies (LGMDs) which are caused by mutations in sarcoglycan (SGs) genes. SG proteins form a core complex consisting of α, β, γ and δ sarcoglycans which are encoded by SGCA, SGCB, SGCG and SGCD genes, respectively. Genetic...

journal_title：Journal of neurogenetics

authors： Mojbafan M,Nilipour Y,Tonekaboni SH,Bagheri SD,Bagherian H,Sharifi Z,Zeinali Z,Tavakkoly-Bazzaz J,Zeinali S

更新日期：2016-03-01 00:00:00

abstract：:Trembler-J, TrJ, is a peripheral hypomyelinating murine mutant. In intercrosses (TrJ/ + X TrJ/ +) there are severely affected (behaviorally and pathologically), mildly affected, and normal offspring, while backcrosses (TrJ/ + X + / +) produce only mildly affected and normal offspring. We used the closely linked marker...

journal_title：Journal of neurogenetics

authors： Henry EW,Sidman RL

更新日期：1983-09-01 00:00:00

abstract：:The serotonin transporter is an important regulator of serotonergic signaling. In order to analyze where the Drosophila melanogaster ortholog of the mammalian serotonin transporter (dSERT) is expressed in the nervous system, a dSERT antibody serum was used. Ectopic expression studies and loss of function analysis reve...

journal_title：Journal of neurogenetics

authors： Giang T,Ritze Y,Rauchfuss S,Ogueta M,Scholz H

更新日期：2011-03-01 00:00:00

abstract：:Immature D. melanogaster males, like virgin females, often elicit vigorous courtship from mature males. Since males perform the same behaviors in response to attractive males and females, the question arises as to whether the foci--cells in the courting male's nervous system that must be haplo-X for the fly to perform...

journal_title：Journal of neurogenetics

authors： Napolitano LM,Tompkins L

更新日期：1989-11-01 00:00:00

abstract：:The cell-surface-signaling protein Notch, is required for numerous developmental processes and typically specifies which of two adjacent cells will adopt a non-neuronal developmental fate. It has recently been implicated in long-term memory formation in mammals and Drosophila. Here, we investigated whether activity-de...

journal_title：Journal of neurogenetics

authors： de Bivort BL,Guo HF,Zhong Y

更新日期：2009-01-01 00:00:00

abstract：:In the homozygous staggerer (sg/sg) mutant mouse, most of the Purkinje cells (the primary targets for olivocerebellar climbing fibers) are missing or ectopic. In this study, the organization and cell number of the inferior olivary complex in sg/sg were determined and compared to the inferior olive of the wildtype (+/+...

journal_title：Journal of neurogenetics

authors： Blatt GJ,Eisenman LM

更新日期：1985-02-01 00:00:00

abstract：:Messenger RNA editing of transcripts encoding voltage-sensitive ion channels has not been extensively analyzed--least of all in Drosophila, for which several channel-encoding genes are known. Previous sequence studies of D. melanogaster's cacophony gene, which encodes an alpha 1 calcium-channel subunit called Dmca1A, ...

journal_title：Journal of neurogenetics

authors： Smith LA,Peixoto AA,Hall JC

更新日期：1998-11-01 00:00:00

abstract：:Chemosensory glomus cells of the carotid bodies release transmitters, including ATP and dopamine mainly via the exocytosis of small dense core granules (SDCGs, vesicular diameter of ∼100 nm). Using carbon-fiber amperometry, we showed previously that with a modest uniform elevation in cytosolic Ca2+ concentration ([Ca2...

journal_title：Journal of neurogenetics

authors： Tse A,Lee AK,Takahashi N,Gong A,Kasai H,Tse FW

更新日期：2018-09-01 00:00:00

abstract：:Cacna1f gene mutation could lead to incomplete congenital stationary night blindness (iCSNB) disease. The CSNB-like phenotype rat is a spontaneous rat model caused by Cacna1f gene mutation. The present study explored the phenotypic properties of behavior performance in CSNB rats further. The vision-related behaviors o...

journal_title：Journal of neurogenetics

authors： An J,Wang L,Guo Q,Li L,Xia F,Zhang Z

更新日期：2012-09-01 00:00:00

abstract：:Disturbances in sleep are encountered in the majority of patients with depressive disorder. To elucidate the molecular mechanisms behind this relationship, we examined gene expression changes in a rodent model for disturbed sleep and depression. The animals were treated with daily injections of clomipramine to affect ...

journal_title：Journal of neurogenetics

authors： Lagus M,Gass N,Saharinen J,Savelyev S,Porkka-Heiskanen T,Paunio T

更新日期：2012-09-01 00:00:00

abstract：:Myoclonic status in nonprogressive encephalopathy (MSNE) is an early-onset, drug-resistant epileptic syndrome characterized by occurrence of continuous diffuse epileptiform abnormalities, associated with positive and/or negative phenomena and accompanied by transient and recurring motor, cognitive, and behavioral impa...

journal_title：Journal of neurogenetics

authors： Nicita F,Garone G,Papetti L,Consoli F,Magliozzi M,De Luca A,Spalice A

更新日期：2015-01-01 00:00:00

abstract：:The metabolism of leucine was studied in cultured human fibroblasts derived from patients with defects in each of the major steps in the catabolism of the amino acid. Intact fibroblasts were incubated with [U-14C]leucine and the organic acid products were isolated by liquid partition chromatography. In control fibrobl...

journal_title：Journal of neurogenetics

authors： Yoshida I,Søvik O,Sweetman L,Nyhan WL

更新日期：1985-12-01 00:00:00

abstract：:The bidirectional and positive relation between the ingestion of fat and alcohol has become the subject of extensive discussion. However, this relation is more studied in animal models of binge eating with intermittent access of high-fat diet or in a model of short period of this diet consumption. Here, we developed a...

journal_title：Journal of neurogenetics

authors： Martins de Carvalho L,Lauar Gonçalves J,Sondertoft Braga Pedersen A,Damasceno S,Elias Moreira Júnior R,Uceli Maioli T,Faria AMC,Brunialti Godard AL

更新日期：2019-03-01 00:00:00

abstract：:Abstract: This essay is dedicated to Obaid on the occasion of his 80th birthday. We both worked on the behavior of Drosophila and on what underlies behavior in the fly brain. Is that the fly's mind? The essay is about some limitations of brain science. It is just a little piece of writing. It is meant to honor Obaid f...

journal_title：Journal of neurogenetics

authors： Heisenberg M

更新日期：2012-09-01 00:00:00

abstract：:Kinase-mediated signaling cascades regulate a number of different molecular mechanisms involved in cellular homeostasis, and are viewed as one of the most common intracellular processes that are robustly dysregulated in the pathophysiology of mood disorders such as depression. Newly emerged, rapid acting antidepressan...

journal_title：Journal of neurogenetics

authors： Yuan LL,Wauson E,Duric V

更新日期：2016-01-01 00:00:00

abstract：:The Drosophila receptor oscillation A (rosA) mutations, which cause electroretinogram (ERG) defects, including oscillations, were localized to the 24F4-25A2 region of chromosome 2L. Genomic fragments from this region, isolated from bacteriophage P1 clones, included those that detect transcriptional defects in rosA mut...

journal_title：Journal of neurogenetics

authors： Burg MG,Geng C,Guan Y,Koliantz G,Pak WL

更新日期：1996-12-01 00:00:00

abstract：:Visual systems have a rich history as model systems for the discovery and understanding of basic principles underlying neuronal connectivity. The compound eyes of insects consist of up to thousands of small unit eyes that are connected by photoreceptor axons to set up a visual map in the brain. The photoreceptor axon ...

journal_title：Journal of neurogenetics

authors： Agi E,Langen M,Altschuler SJ,Wu LF,Zimmermann T,Hiesinger PR

更新日期：2014-09-01 00:00:00

abstract：:Predictions from the theory of transfection, Karl-Friedrich Fischbach's first paper, were confirmed 20 years later. Also a model, proposed already in 1977 by Karl-Friedrich and colleagues, to explain the nonmonotonous dependence on light intensity of phototaxis in Drosophila, finds support in recent studies of functio...

journal_title：Journal of neurogenetics

authors： Spatz HC

更新日期：2014-09-01 00:00:00

abstract：:Caenorhabditis elegans has a simple nervous system of 302 neurons. It however senses environmental cues incredibly precisely and produces various behaviors by processing information in the neural circuit. In addition to classical genetic analysis, fluorescent proteins and calcium indicators enable in vivo monitoring o...

journal_title：Journal of neurogenetics

authors： Takeishi A,Takagaki N,Kuhara A

更新日期：2020-09-01 00:00:00

abstract：:The horizontal system and vertical system cells of the dipteran optic lobes are well understood regarding their physiology and role in visually guided behavior. Little is known, however, about their development. Drosophila optomotor-blind (omb) is required for the development of the HS/VS cells which are lacking in th...

journal_title：Journal of neurogenetics

authors： Sen A,Grimm S,Hofmeyer K,Pflugfelder GO

更新日期：2014-09-01 00:00:00

abstract：:The aim of this review is to summarize the history of Dr. Yoshiki Hotta and his collaborators' contributions to the research field of Drosophila phototransduction. The electroretinogram-defective mutants reported in 1970 by Dr. Hotta and Dr. Seymour Benzer in the article entitled "Genetic dissection of the Drosophila ...

journal_title：Journal of neurogenetics

authors： Suzuki E,Masai I,Inoue H

更新日期：2012-03-01 00:00:00

abstract：:Learnt predictive behavior faces a dilemma: predictive stimuli will never 'replay' exactly as during the learning event, requiring generalization. In turn, minute differences can become meaningful, prompting discrimination. To provide a study case for an adaptive adjustment of this generalization-discrimination balanc...

journal_title：Journal of neurogenetics

authors： Mishra D,Louis M,Gerber B

更新日期：2010-09-01 00:00:00