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Journal of Neurogenetics

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https://www.readbyqxmd.com/read/29199528/gene-networks-associated-with-non-syndromic-intellectual-disability
#1
Soohyun Lee, Stephen Rudd, Jacob Gratten, Peter M Visscher, Johannes B Prins, Paul A Dawson
Non-syndromic intellectual disability (NS-ID) is a genetically heterogeneous disorder, with more than 200 candidate genes to date. Despite the increasing number of novel mutations detected, a relatively low number of recurrently mutated genes have been identified, highlighting the complex genetic architecture of the disorder. A systematic search of PubMed and Medline identified 245 genes harbouring non-synonymous variants, insertions or deletions, which were identified as candidate NS-ID genes from case reports or from linkage or pedigree analyses...
December 4, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29191114/gene-cg15630-fipi-is-involved-in-regulation-of-the-interpulse-interval-in-drosophila-courtship-song
#2
Sergey A Fedotov, Julia V Bragina, Natalia G Besedina, Larisa V Danilenkova, Elena A Kamysheva, Nikolai G Kamyshev
To study the central pattern generators functioning, previously we identified genes, whose neurospecific knockdowns led to deviations in the courtship song of Drosophila melanogaster males. Reduced expression of the gene CG15630 caused a decrease in the interpulse interval. To investigate the role of CG15630, which we have called here fipi (factor of interpulse interval), in the courtship song production, at first, we have characterized fipi transcripts and protein (FIPI) in the mutant flies carrying P insertion and deletions in this gene and in flies with its RNAi knockdown...
November 30, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29191078/novel-mutation-in-the-kcnj10-gene-in-three-siblings-with-seizures-ataxia-and-no-electrolyte-abnormalities
#3
Muna A Al Dhaibani, Ayman W El-Hattab, Kathryn B Holroyd, Jennifer Orthmann-Murphy, Valerie A Larson, Khurram A Siddiqui, Miklos Szolics, Nicoline Schiess
We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellectual disability in two siblings. None had any associated electrolyte abnormalities and no symptomatic hearing deficits were observed.
November 30, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29191065/physiological-responses-of-the-drosophila-labellum-to-amino-acids
#4
Joori Park, John R Carlson
We have systematically studied the physiological responses elicited by amino acids from the principal taste organ of the Drosophila head. Although the detection and coding of sugars and bitter compounds have been examined extensively in this organism, little attention has been paid to the physiology of amino acid taste. We find that one class of sensilla, the S sensilla, yield the strongest responses to amino acids, although these responses were much weaker than the most robust responses to sugar or bitter compounds...
November 30, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29187021/correction-to-alizadeh-et-al-association-of-transcription-factor-4-tcf4-gene-mrna-level-with-schizophrenia-its-psychopathology-intelligence-and-cognitive-impairments
#5
(no author information available yet)
No abstract text is available yet for this article.
November 29, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29168413/computational-prediction-of-the-phenotypic-effects-of-genetic-variants-basic-concepts-and-some-application-examples-in-drosophila-nervous-system-genes
#6
Alejandro Sánchez-Gracia, Sara Guirao-Rico, Silvia Hinojosa-Alvarez, Julio Rozas
Predicting the phenotypic impact of mutations is a central challenge in population and functional genetics. The analysis of DNA and amino acid sequence variation in an evolutionary context is a robust approach to infer the fitness effects of genetic variants. In this review, we discuss the most popular methods based on this approach, covering both theoretical and practical aspects, and introduce compelling software for predicting the functional effects of mutations, and to highlight functionally relevant nucleotide or amino acid candidate positions...
November 23, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29148276/correction-to-albury-et-al-re-six-novel-rare-non-synonymous-mutations-for-migraine-without-aura-identified-by-exome-sequencing
#7
(no author information available yet)
No abstract text is available yet for this article.
November 17, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29125005/neurogenetics-in-spain
#8
Alberto Ferrús
No abstract text is available yet for this article.
November 10, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29119859/novel-genetic-approaches-to-behavior-in-drosophila
#9
Fernando Martín, Esther Alcorta
The study of behavior requires manipulation of the controlling neural circuits. The fruit fly, Drosophila melanogaster, is an ideal model for studying behavior because of its relatively small brain and the numerous sophisticated genetic tools that have been developed for this animal. Relatively recent technical advances allow the manipulation of a small subset of neurons with temporal resolution in flies while they are subject to behavior assays. This review briefly describes the most important genetic techniques, reagents, and approaches that are available to study and manipulate the neural circuits involved in Drosophila behavior...
November 9, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29117754/generation-and-characterization-of-new-alleles-of-quiver-qvr-that-encodes-an-extracellular-modulator-of-the-shaker-potassium-channel
#10
Hongyu Ruan, Atsushi Ueda, Xiaomin Xing, Xuxuan Wan, Benjamin Strub, Spencer Mukai, Kaan Certel, David Green, Kyle Belozerov, Wei-Dong Yao, Wayne Johnson, Jim Jung-Ching Lin, Arthur J Hilliker, Chun-Fang Wu
Our earlier genetic screen uncovered a paraquat-sensitive leg-shaking mutant quiver(1) (qvr(1)), whose gene product interacts with the Shaker (Sh) K(+) channel. We also mapped the qvr locus to EY04063 and noticed altered day-night activity patterns in these mutants. Such circadian behavioral defects were independently reported by another group, who employed the qvr(1) allele we supplied them, and attributed the extreme restless phenotype of EY04063 to the qvr gene. However, their report adopted a new noncanonical gene name sleepless (sss) for qvr...
November 9, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29113536/the-pigmented-epithelium-a-bright-partner-against-photoreceptor-degeneration
#11
Joaquín Letelier, Paola Bovolenta, Juan R Martínez-Morales
Sight depends on the intimate association between photoreceptors and pigment epithelial cells. The evolutionary origin of this cellular tandem can be traced back to the emergence of bilateral animals, at least 450 million years ago, as they define the minimal unit of the ancestral prototypic eye. Phototransduction is a demanding process from the energetic and homeostatic points of view, and not surprisingly photoreceptive cells are particularly susceptible to damage and degeneration. Here, we will examine the different ancillary roles that the pigmented cells play in the physiology and homeostasis of photoreceptors, linking each one of these processes to the most common hereditary retinal diseases...
November 7, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29105529/re-six-novel-rare-non-synonymous-mutations-for-migraine-without-aura-identified-by-exome-sequencing
#12
Cassie L Albury, Zachary F Gerring, Lyn R Griffiths, Dale R Nyholt, Astrid J Rodriguez-Acevedo
No abstract text is available yet for this article.
November 6, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29105523/association-of-transcription-factor-4-tcf4-gene-mrna-level-with-schizophrenia-its-psychopathology-intelligence-and-cognitive-impairments
#13
Fatemeh Alizadeh, Javad Tavakkoly-Bazzaz, Ali Bozorgmehr, Asa'ad Azarnezhad, Mina Tabrizi, Esmaeil Shahsavand Ananloo
Schizophrenia (SCZ), is considered as one of the most debilitating mental disorders around the world. Symptom-based clinical interview and numerous tests have been used to evaluate the diagnosis and also cognitive disturbances in patients with SCZ. All these tests measure phenotype-based functions. Thus, it seems accurate diagnosis of such complex disorders must rely on more valid and reliable factors. In this study, we evaluated the association of transcription factor 4 (TCF4) gene mRNA level in peripheral blood with SCZ, and also its psychopathology, cognitive and intellectual impairments...
November 6, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29105522/orb2-as-modulator-of-brat-and-their-role-at-the-neuromuscular-junction
#14
Elena Santana, Sergio Casas-Tintó
How synapses are built and dismantled is a central question in neurobiology. A wide range of proteins and processes from gene transcription to protein degradation are involved. Orb2 regulates mRNA translation depending on its monomeric or oligomeric state to modulate nervous system development and memory. Orb2 is expressed in Drosophila larval brain and neuromuscular junction (NMJ), Orb2 knockdown causes a reduction of synapse number and defects in neuronal morphology. Brain tumor (Brat) is an Orb2 target; it is expressed in larval brain related with cell growth and proliferation...
November 6, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29098922/overexpression-of-u1-snrna-induces-decrease-of-u1-spliceosome-function-associated-with-alzheimer-s-disease
#15
Zhi Cheng, Yingchun Shang, Shan Gao, Tao Zhang
We recently reported that presenilin-1 (PS1) induced an increase of U1 snRNA expression accompanied with the change of amyloid precursor protein expression, β-amyloid level and cell death. In the present study, our data showed that both overexpression and knockdown of U1 snRNA could cause the loss in the function of U1 snRNA and resulted in PCPA as well as the same downstream phenomena including the expression changes of genes specific to AD, tau hyperphosphorylation on the site of Thr212, the decrease of acetylated α-tubulin, the reduction of cell viability and upregulation of RIPK1, RIPK3 and caspase8...
November 3, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29078722/local-translation-of-the-down-syndrome-cell-adhesion-molecule-dscam-mrna-in-the-vertebrate-central-nervous-system
#16
María Luz Montesinos
Local translation of synaptic mRNAs is an important process related to key aspects of central nervous system development and physiology, including dendritogenesis, axonal growth cone morphology and guidance and synaptic plasticity. Accordingly, local translation is compromised in several intellectual disabilities, including Fragile X syndrome, tuberous sclerosis and Down syndrome. Down Syndrome Cell Adhesion Molecule (DSCAM) is a gene with ascribed functions in neuronal wiring that belongs to the Down Syndrome Critical Region (DSCR) of chromosome 21...
October 27, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29078717/untangling-the-wiring-of-the-drosophila-visual-system-developmental-principles-and-molecular-strategies
#17
Haritz Plazaola-Sasieta, Alejandra Fernández-Pineda, Qi Zhu, Marta Morey
The assembly of neural circuits relies on the accurate establishment of connections between synaptic partners. Precise wiring results from responses that neurons elicit to environmental cues and cell-cell contact events during development. A common design principle in both invertebrate and vertebrate adult nervous systems is the orderly array of columnar and layered synaptic units of certain neuropils. This similarity is particularly striking in the visual system, both at the structural and cell-type levels...
October 27, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29078716/interaction-of-sex-chromosome-complement-gonadal-hormones-and-neuronal-steroid-synthesis-on-the-sexual-differentiation-of-mammalian-neurons
#18
Maria Julia Cambiasso, Carla Daniela Cisternas, Isabel Ruiz-Palmero, Maria Julia Scerbo, Maria Angeles Arevalo, Iñigo Azcoitia, Luis M Garcia-Segura
Female mouse hippocampal and hypothalamic neurons growing in vitro show a faster development of neurites than male mouse neurons. This sex difference in neuritogenesis is determined by higher expression levels of the neuritogenic factor neurogenin 3 in female neurons. Experiments with the four core genotype mouse model, in which XX and XY animals with male gonads and XX and XY animals with female gonads are generated, indicate that higher levels of neurogenin 3 in developing neurons are determined by the presence of the XX chromosome complement...
October 27, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29037100/response-from-original-authors-re-six-novel-rare-nonsynonymous-mutations-for-migraine-without-aura-identified-by-exome-sequencing
#19
Xiao-Ping Wang, Zhi-Xiang Xu, Xiao-Jing Sun, Xingguang Luo
No abstract text is available yet for this article.
October 16, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28868955/neurogenetics-of-drosophila-circadian-clock-expect-the-unexpected
#20
Patricia Jarabo, Francisco A Martin
Daily biological rhythms (i.e. circadian) are a fundamental part of animal behavior. Numerous reports have shown disruptions of the biological clock in neurodegenerative disorders and cancer. In the latter case, only recently we have gained insight into the molecular mechanisms. After 45 years of intense study of the circadian rhtythms, we find surprising similarities among species on the molecular clock that governs biological rhythms. Indeed, Drosophila is one of the most widely used models in the study of chronobiology...
September 4, 2017: Journal of Neurogenetics
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