Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation.

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：:A new autosomal recessive mutation, characterized by an early defect in righting reflex and stiffened gait, progression to severe spasticity, tremor and rigidity, and death before weaning, appeared spontaneously on the C57BL/6 background. It was shown to be an allele of the mutant spastic spa, and shall be known as sp...

journal_title：Journal of neurogenetics

authors： White WF,Regan LJ,Roe AW,Messer A

更新日期：1987-08-01 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：: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：: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 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：:Altered synaptic strength underlies information storage in neural circuits. Neuromodulatory transmitters such as norepinephrine (NE) facilitate long-lasting synaptic plasticity by recruiting and modifying multiple molecular elements of synaptic signaling, including specific transmitter receptors, intracellular protein...

journal_title：Journal of neurogenetics

authors： Nguyen PV,Gelinas JN

更新日期：2018-09-01 00:00:00

abstract：:Mutations at two fragile sites, FRAXA and FRAXE, loci are caused by an expansion of a CGG/GCC trinucleotide repeat and are characterized by mental retardation. Here we report molecular screening survey of 97 unrelated individuals diagnosed with non-specific mental retardation (MR), which produced positive test for FRA...

journal_title：Journal of neurogenetics

authors： Major T,Culjkovic B,Stojkovic O,Gucscekic M,Lakic A,Romac S

更新日期：2003-04-01 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：: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：: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：: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：:C. elegans animals mutant for the unc-119 gene exhibit movement, sensory and behavioral abnormalities. Consistent with a nervous system role, unc-119 reporter genes are expressed throughout the C. elegans nervous system. The UNC-119 protein has strong sequence similarity to the predicted protein from a human gene, HRG...

journal_title：Journal of neurogenetics

authors： Maduro MF,Gordon M,Jacobs R,Pilgrim DB

更新日期：2000-01-01 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：:Intrahippocampal microinjections with anti-Met-enkephalin antiserum enhanced novelty-induced vertically oriented exploratory acts and horizontal locomotor activity in inbred mouse strain DBA/2 and reduced these behaviors in C57BL/6 so that strain differences originally present between the normal serum controls were el...

journal_title：Journal of neurogenetics

authors： van Abeelen JH,Gerads HJ

更新日期：1986-05-01 00:00:00

abstract：:Some cases of Alzheimer's disease are inherited as a dominant trait in humans. To date, mutations in three genes account for some of them: the amyloid precursor protein (APP) and presenilins 1 and 2 (PS-1 and PS-2, respectively). The function of the presenilins is still unclear, although they belong to a transmembrane...

journal_title：Journal of neurogenetics

authors： Marfany G,Del-Favero J,Valero R,De Jonghe C,Woodrow S,Hendriks L,Van Broeckhoven C,Gonzàlez-Duarte R

更新日期：1998-01-01 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：: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：:This is the first of two reviews that include some of the studies that we, members of the Pak lab and collaborators, carried out from 1998 to 2010 on the functional and physical interactions among several Drosophila phototransduction components. The report includes our studies on the regulations and/or the functions o...

journal_title：Journal of neurogenetics

authors： Leung HT,Shino S,Kim E

更新日期：2012-06-01 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：: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：:Mutants displaying generalized behavioral defects and one mutant having an enzyme deficiency were examined for electroretinogram (ERG) defects. Mutations in nine genes were examined that cause ERG defects. Two, parats4 and slrpD, cause reversibly temperature dependent loss of the off-transients in the ERG. stnC and Ty...

journal_title：Journal of neurogenetics

authors： Homyk T Jr,Pye Q

更新日期：1989-01-01 00:00:00

abstract：:The development of the olfactory sense organs on the antenna of the fruit fly Drosophila utilises mechanisms distinct from those used in the rest of the adult peripheral nervous system. Lozenge (lz) is the only locus hither-to identified as required for the development of antennal sense organs. In addition to effects ...

journal_title：Journal of neurogenetics

authors： Gupta BP,Rodrigues V

更新日期：1995-12-01 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：: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：: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：:This review outlines research into the cellular and molecular mechanisms underlying a simple behavior in the soil-dwelling nematode, C. elegans. A tap administered to the side of a petri plate acts as a nonlocalized mechanical stimulus to the worms within. Most adult worms respond to this tap stimulus with backward lo...

journal_title：Journal of neurogenetics

authors： Ardiel EL,Rankin CH

更新日期：2008-01-01 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：:Multiple Sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system (CNS) resulting in accumulating neurological disability. The disorder is more prevalent at higher latitudes. To investigate VDR gene variation using three intragenic restriction fragment length polymorphisms (Apa I, T...

journal_title：Journal of neurogenetics

authors： Tajouri L,Ovcaric M,Curtain R,Johnson MP,Griffiths LR,Csurhes P,Pender MP,Lea RA

更新日期：2005-01-01 00:00:00