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 defect, in any of these SG proteins, results in instability of the whole complex. This effect can be helpful in interpreting muscle biopsy results. Autozygosity mapping is a gene mapping approach which can be applied in large consanguineous families for tracking the defective gene in most autosomal recessive disorders. In the present study, we used autozygosity mapping, to find the gene responsible for muscular dystrophy. Proband was a 10-year-old boy referred to our center for ruling out DMD (Duchenne muscular dystrophy). According to the pedigree and clinical reports, we assessed him for SGPs. Haplotyping, using the four short tandem repeat (STR) markers for each of the SG genes, showed that the phenotype may segregate with SGCB gene; and observing two crossing overs which occurred within the gene suggested that the mutation might be in the first two exons of SGCB gene. Mutation analysis showed a 26 bp duplication (10 bp before the initiation codon till 13 bp after the ATG start codon). This will cause a frameshift in protein synthesis.
journal_name
J Neurogenetjournal_title
Journal of neurogeneticsauthors
Mojbafan M,Nilipour Y,Tonekaboni SH,Bagheri SD,Bagherian H,Sharifi Z,Zeinali Z,Tavakkoly-Bazzaz J,Zeinali Sdoi
10.3109/01677063.2016.1141208subject
Has Abstractpub_date
2016-03-01 00:00:00pages
1-4issue
1eissn
0167-7063issn
1563-5260journal_volume
30pub_type
杂志文章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
pub_type: 杂志文章
doi:10.3109/01677063.2015.1091452
更新日期:2015-01-01 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
pub_type: 杂志文章
doi:10.1080/01677063.2020.1734001
更新日期:2020-09-01 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
pub_type: 历史文章,杂志文章
doi:10.3109/01677063.2012.687796
更新日期:2012-09-01 00:00:00
abstract::otal (ota=olfactory trap abnormal), an X-linked mutation of Drosophila isolated by virtue of abnormal olfactory behavior, is shown to be an allele of rdgB (retinal degeneration B), a gene required for normal visual system physiology. rdgB function is shown to be necessary for olfactory response of both adult files and...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677060701695441
更新日期:2007-10-01 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
pub_type: 杂志文章
doi:10.1080/01677063.2016.1202949
更新日期:2016-01-01 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
pub_type: 杂志文章,评审
doi:10.3109/01677063.2011.650253
更新日期:2012-06-01 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
pub_type: 杂志文章
doi:10.3109/01677063.2012.694932
更新日期:2012-09-01 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
pub_type: 杂志文章
doi:10.1080/neg.17.2-3.223.230
更新日期:2003-04-01 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
pub_type: 杂志文章
doi:10.1080/01677060801893276
更新日期:2008-01-01 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
pub_type: 杂志文章
doi:10.3109/01677069809108560
更新日期:1998-11-01 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
pub_type: 杂志文章
doi:10.3109/01677060009084494
更新日期:2000-01-01 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
pub_type: 杂志文章
doi:10.3109/01677068909167263
更新日期:1989-01-01 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
pub_type: 杂志文章
doi:
更新日期:2003-01-01 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
pub_type: 杂志文章
doi:10.1080/01677063.2018.1497629
更新日期:2018-09-01 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
pub_type: 传,历史文章,杂志文章
doi:10.3109/01677063.2011.647144
更新日期:2012-03-01 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
pub_type: 杂志文章
doi:10.3109/01677069809108554
更新日期:1998-01-01 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
pub_type: 杂志文章
doi:10.1080/01677063.2018.1526934
更新日期:2019-03-01 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
pub_type: 杂志文章
doi:10.3109/01677063.2014.917645
更新日期:2014-09-01 00:00:00
abstract::One of the most fascinating questions in evolutionary biology is how traits unique to humans, such as their high cognitive abilities, erect bipedalism, and hairless skin, are encoded in the genome. Recent advances in genomics have begun to reveal differences between the genomes of the great apes. It has become evident...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677063.2013.789512
更新日期:2013-09-01 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
pub_type: 杂志文章,评审
doi:10.1080/01677063.2018.1497630
更新日期:2018-09-01 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
pub_type: 杂志文章
doi:10.3109/01677068909107103
更新日期:1989-11-01 00:00:00
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
pub_type: 杂志文章
doi:10.3109/01677068909107097
更新日期:1989-09-01 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
pub_type: 杂志文章
doi:10.3109/01677068509101424
更新日期:1985-12-01 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
pub_type: 杂志文章
doi:
更新日期:2002-01-01 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
pub_type: 杂志文章
doi:10.1080/01677060590949692
更新日期:2005-01-01 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
pub_type: 杂志文章
doi:10.3109/01677068609106856
更新日期:1986-09-01 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
pub_type: 杂志文章
doi:10.3109/01677068409107092
更新日期:1984-12-01 00:00:00
abstract::We have cloned the cDNA encoding human liver glycogen phosphorylase (glycogenosis type VI) from a fetal brain cDNA library. Liver(L) and muscle(M) phosphorylase cDNA probes were used to determine the relative abundance of mRNA encoding the L- and M-isozymes of phosphorylase in human fetal and adult tissues. The transc...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:
更新日期:1987-12-01 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
pub_type: 杂志文章
doi:10.3109/01677069609107063
更新日期:1996-12-01 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
pub_type: 杂志文章
doi:10.3109/01677063.2011.642910
更新日期:2012-03-01 00:00:00