Prevalence of the fragile X syndrome in Yugoslav patients with non-specific mental retardation.

abstract：:The molecular analysis of the Notch locus of Drosophila melanogaster demonstrated that it codes for a protein which shows homology to the epidermal growth factor as well as to the products of certain yeast genes involved in the control of the cell cycle (Wharton et al., 1985a; Breeden and Nasmyth, 1987). The structure...

journal_title：Journal of neurogenetics

authors： Markopoulou K,Artavanis-Tsakonas S

更新日期：1989-09-01 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：:A slide taped to a window at the Woods Hole Marine Biology Laboratory was my first introduction to the touch receptor neurons of the nematode Caenorhabditis elegans. Studying these cells as a postdoc with Sydney Brenner gave me a chance to work with John Sulston on a fascinating set of neurons. I would never have gues...

journal_title：Journal of neurogenetics

authors： Chalfie M

更新日期：2020-09-01 00:00:00

abstract：:Based on the staining of Drosophila embryos with neuron-specific monoclonal antibodies we describe the differentiation of the earliest neurons in the central nervous system. The metameric array undergoes a number of changes during development that distinguish several morphological units: metameres, neuromeres and gang...

journal_title：Journal of neurogenetics

authors： Canal I,Ferrús A

更新日期：1986-09-01 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：:Neural tube defects (NTD) are a common birth defect, with both genetic and environmental contributions to their etiology. In mouse, null mutations in Noggin result in fully-penetrant NTDs. We investigated Noggin for mutations that may predispose to human NTDs in 202 NTD cases. One variant allele was identified in a ma...

journal_title：Journal of neurogenetics

authors： Bauer KA,George TM,Enterline DS,Stottmann RW,Melvin EC,Siegel D,Samal S,Hauser MA,Klingensmith J,Nye JS,Speer MC,Neural Tube Defects Collaborative Group.

更新日期：2002-01-01 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：:Glioblastoma multiform (GBM; World Health Organization (WHO) grade IV) and anaplastic astrocytomas (AA; WHO grade III) are highly aggressive and lethal astrocytic brain tumors. To detect cancer-specific somatic mutations in two hot-spot regions of PIK3CA gene, the helical and kinase domains (encoded by exons 9 and 20,...

journal_title：Journal of neurogenetics

authors： Derakhshandeh-Peykar P,Alivi J,Hossein-nezhad A,Rautenstrauss B,Vesal RE,Doriani A

更新日期：2011-12-01 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：:Most insertional mutagenesis screens of Drosophila performed to date have not used target chromosomes that have been checked for their suitability for phenotypic screens for viable phenotypes. To address this, we have generated a selection of stocks carrying either isogenized second chromosomes or isogenized third chr...

journal_title：Journal of neurogenetics

authors： Sharma P,Asztalos Z,Ayyub C,de Bruyne M,Dornan AJ,Gomez-Hernandez A,Keane J,Killeen J,Kramer S,Madhavan M,Roe H,Sherkhane PD,Siddiqi K,Silva E,Carlson JR,Goodwin SF,Heisenberg M,Krishnan K,Kyriacou CP,Partridge L,

更新日期：2005-04-01 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：: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：:Animals make decisions on behavioral choice by evaluating internal and external signals. Individuals often make decisions in different ways, but the underlying neural mechanisms are not well understood. Here, we describe a system for observing the behavior of individual Drosophila melanogaster larvae simultaneously pr...

journal_title：Journal of neurogenetics

authors： Koseki N,Mori S,Suzuki S,Tonooka Y,Kosugi S,Miyakawa H,Morimoto T

更新日期：2016-01-01 00:00:00

abstract：:Some of the very first chemosensory mutants in Drosophila were generated in screens done in the 1970s at Obaid Siddiqi's lab in Tata Institute of Fundamental Research (TIFR), Mumbai. This is a personal account of some of the early work with these mutants, which led to their physiological and molecular characterization...

journal_title：Journal of neurogenetics

authors： Hasan G

更新日期：2012-09-01 00:00:00

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：:Diverse types of neurons must be specified in the developing brain to form the functional neural circuits that are necessary for the execution of daily tasks. Here, we describe the participation of Forkhead box class O (FOXO) in cell fate specification of a small subset of Drosophila ventral olfactory projection neuro...

journal_title：Journal of neurogenetics

authors： Wei JY,Chung PC,Chu SY,Yu HH

更新日期：2019-03-01 00:00:00

abstract：:We have identified helmsman (hlm), which is expressed in the fruit fly photoreceptor cells during neural network development. Hlm is also expressed in the elongating cells of the embryonic trachea. Both photoreceptor neurons and embryonic trachea cells elongate in precise, targeted growth for cell-to-cell specific rec...

journal_title：Journal of neurogenetics

authors： McKay JP,Nightingale B,Pollock JA

更新日期：2008-01-01 00:00:00

abstract：:Abstract: Nuclear factor of activated T cells (NFAT) is a calcium-responsive transcription factor. We describe here an NFAT-based neural tracing method-CaLexA (calcium-dependent nuclear import of LexA)-for labeling active neurons in behaving animals. In this system, sustained neural activity induces nuclear import of ...

journal_title：Journal of neurogenetics

authors： Masuyama K,Zhang Y,Rao Y,Wang JW

更新日期：2012-03-01 00:00:00

abstract：:Courtship suppression is an associative conditioning procedure in Drosophila melanogaster that is ethologically based and capable of being tested on individual flies. We have expanded the range of the courtship conditioning by developing an excitatory procedure in which male flies learn to associate a novel odor with ...

journal_title：Journal of neurogenetics

authors： Broughton SJ,Tully T,Greenspan RJ

更新日期：2003-01-01 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

abstract：:From Sydney Brenner's backyard to hundreds of labs across the globe, inspiring six Nobel Prize winners along the way, Caenorhabditis elegans research has come far in the past half century. The journey is not over. The virtues of C. elegans research are numerous and have been recounted extensively. Here, we focus on th...

journal_title：Journal of neurogenetics

authors： Iliff AJ,Xu XZS

更新日期：2020-09-01 00:00:00

abstract：:A search for the defective gene causing torsion dystonia has been carried out in a family manifesting an autosomal dominant mode of inheritance of this movement disorder. Complete neurologic examination and establishment of lymphoblast lines have been carried out for over 50 members. Linkage analysis, using cloned DNA...

journal_title：Journal of neurogenetics

authors： Breakefield XO,Bressman SB,Kramer PL,Ozelius L,Moskowitz C,Tanzi R,Brin MF,Hobbs W,Kaufman D,Tobin A

更新日期：1986-05-01 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：: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：: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：:Writers' cramp is a movement disorder with dystonic co-contraction of fingers and hand during writing and is part of the clinical spectrum of focal dystonias. Previous studies showed reduced striatal dopamine receptor D2 (DRD2) availability in dystonia. The expression of D2 receptors is modulated by a DRD2/ANKK1-Taq1A...

journal_title：Journal of neurogenetics

authors： Zeuner KE,Acewicz A,Knutzen A,Dressler D,Lohmann K,Witt K

更新日期：2016-01-01 00:00:00

abstract：:We used the hippocampal slice to examine extracellular electrophysiological responses to nicotine and the difference in sensitivity to nicotine-induced electrophysiological effects between the DBA and C3H mouse strains. Nicotine enhanced CA1 population spikes (PS) evoked by Schaffer collateral stimulation in a concent...

journal_title：Journal of neurogenetics

authors： Freund RK,Wehner JM

更新日期：1987-04-01 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：:The slo gene encodes the BK-type Ca(2+)-activated K(+) channels. In Drosophila, expression of slo is induced by organic solvent sedation (benzyl alcohol and ethanol), and this increase in neural slo expression contributes to the production of functional behavioral tolerance (inducible resistance) to these drugs. Withi...

journal_title：Journal of neurogenetics

authors： Li X,Ghezzi A,Krishnan HR,Pohl JB,Bohm AY,Atkinson NS

更新日期：2015-01-01 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