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https://www.readbyqxmd.com/read/28821923/ankg-hemizygous-mice-present-cognitive-impairment-and-elevated-anxiety-depressive-like-traits-associated-with-decreased-expression-of-gaba-receptors-and-postsynaptic-density-protein
#1
Cui Liu, Ling Zhang, Jie Wu, Xiaolong Sui, Yanfeng Xu, Lan Huang, Yunlin Han, Hua Zhu, Yanhong Li, Xiuping Sun, Chuan Qin
Recent genome-wide association studies (GWAS) of patient populations and genetic linkage assessments have demonstrated that the ankyrin-G (AnkG) gene is involved in neuropsychiatric disorders, including bipolar disorder, schizophrenia, and Alzheimer's disease, but it remains unclear how the genetic variants of AnkG contribute to neuropsychiatric disorders. Here, we generated AnkG hemizygous mice using the gene trapping approach. Homozygous AnkG was embryonically lethal. Western blotting and real-time polymerase chain reaction (qPCR) assessments of wild type (WT) and AnkG (+/-) mutant mice demonstrated a 50% reduction of ANKG levels, at the gene and protein levels, in AnkG hemizygous mice...
August 18, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28819537/-nod2-gene-mutation-in-moroccan-patients-with-crohn-s-disease-prevalence-genotypic-study-and-correlation-of-nod2-gene-mutation-with-the-phenotype-of-crohn-s-disease
#2
Mouna Tamzaourte, Ikram Errabih, Hayat Krami, Fadlouallah Maha, Lahmiri Maria, Nadia Benzzoubeir, Laaziza Ouazzani, Ahmed Sefiani, Houria Ouazzani
The aim of this study was to determine the prevalence of NOD2/CARD15 gene mutations in a group of Moroccan patients with Crohn's disease and to study its correlation with genotype-phenotypic expression. We conducted a cross-sectional case-control study over a period of 16 months. 101 patients with Crohn's disease were enrolled between January 2012 and April 2013 as well as a control group of 107 patients. We performed a genetic analysis to identify 3 NOD2 gene variants: p.Arg702Trp, p.Gly908Arg and p.Leu1007fsins...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28817699/cooperative-dynamics-of-neighborhood-economic-status-in-cities
#3
Anand Sahasranaman, Henrik Jeldtoft Jensen
We significantly extend our earlier variant of the Schelling model, incorporating a neighborhood Potential function as well as an agent wealth gain function to study the long term evolution of the economic status of neighborhoods in cities. We find that the long term patterns of neighborhood relative economic status (RES) simulated by this model reasonably replicate the empirically observed patterns from American cities. Specifically, we find that larger fractions of rich and poor neighborhoods tend to, on average, retain status for longer than lower- and upper-middle wealth neighborhoods...
2017: PloS One
https://www.readbyqxmd.com/read/28817303/chrna7-deletions-are-enriched-in-risperidone-treated-children-and-adolescents
#4
Madelyn A Gillentine, Janson J White, Christopher M Grochowski, James R Lupski, Christian P Schaaf, Chadi A Calarge
OBJECTIVE: Aggression is among the most common indications for referral to child and adolescent mental health services and is often challenging to treat. Understanding the biological underpinnings of aggression could help optimize treatment efficacy. Neuronal nicotinic acetylcholine receptors (nAChRs), specifically the α7 nAChR, encoded by the gene CHRNA7, have been implicated in aggressive behaviors in animal models as well as humans. Copy number variants (CNVs) of CHRNA7 are found in individuals with neuropsychiatric disorders, often with comorbid aggression...
August 17, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#5
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A Bernstein, Christian P Schaaf, Fernando Scaglia, Christine M Eng, Yaping Yang
DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous HNRNPU loss-of-function mutations detected by clinical whole exome sequencing: c...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815216/epistatic-interactions-within-the-influenza-a-virus-polymerase-complex-mediate-mutagen-resistance-and-replication-fidelity
#6
Matthew D Pauly, Daniel M Lyons, William J Fitzsimmons, Adam S Lauring
Lethal mutagenesis is a broad-spectrum antiviral strategy that employs mutagenic nucleoside analogs to exploit the high mutation rate and low mutational tolerance of many RNA viruses. Studies of mutagen-resistant viruses have identified determinants of replicative fidelity and the importance of mutation rate to viral population dynamics. We have previously demonstrated the effective lethal mutagenesis of influenza A virus using three nucleoside analogs as well as the virus's high genetic barrier to mutagen resistance...
July 2017: MSphere
https://www.readbyqxmd.com/read/28814400/mediation-and-modification-of-genetic-susceptibility-to-obesity-by-eating-behaviors
#7
Blandine de Lauzon-Guillain, Emma Ad Clifton, Felix R Day, Karine Clément, Soren Brage, Nita G Forouhi, Simon J Griffin, Yves Akoli Koudou, Véronique Pelloux, Nicholas J Wareham, Marie-Aline Charles, Barbara Heude, Ken K Ong
Background: Many genetic variants show highly robust associations with body mass index (BMI). However, the mechanisms through which genetic susceptibility to obesity operates are not well understood. Potentially modifiable mechanisms, including eating behaviors, are of particular interest to public health.Objective: Here we explore whether eating behaviors mediate or modify genetic susceptibility to obesity.Design: Genetic risk scores for BMI (BMI-GRSs) were calculated for 3515 and 2154 adults in the Fenland and EDEN (Etude des déterminants pré et postnatals de la santé et du développement de l'enfant) population-based cohort studies, respectively...
August 16, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28813755/genetics-of-alcoholism
#8
Ena C Zhu, Timothy J Soundy, Yueshan Hu
Consuming excessive amounts of alcohol has the potential to modify an individual's brain and lead to alcohol dependence. Alcohol use leads to 88,000 deaths every year in the U.S. alone and can lead to other health issues including cancers, such as colorectal cancer, and mental health problems. While drinking behavior varies due to environmental factors, genetic factors also contribute to the risk of alcoholism. Certain genes affecting alcohol metabolism and neurotransmitters have been found to contribute to or inhibit the risk...
May 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28813486/differentiating-between-subtypes-of-primary-progressive-aphasia-and-mild-cognitive-impairment-on-a-modified-version-of-the-frontal-behavioral-inventory
#9
Donna C Tippett, Carol B Thompson, Cornelia Demsky, Rajani Sebastian, Amy Wright, Argye E Hillis
Behavioral assessment has been investigated in frontotemporal lobar degeneration and Alzheimer's disease, but has not been explored extensively in subtypes of primary progressive aphasia (PPA). We explored the ability of a modified version of the Frontal Behavioral Inventory (FBI-mod) to discriminate between patients with distinct subtypes of PPA and patients with mild cognitive impairment (MCI). We hypothesized that individuals with nonfluent agrammatic PPA (nfaPPA) would have higher negative behavior scores than other groups and that individuals with semantic variant PPA (svPPA) would have higher disinhibition scores than other groups...
2017: PloS One
https://www.readbyqxmd.com/read/28813088/cognitive-dysfunction-in-corticobasal-degeneration
#10
Laís Machado de Oliveira, Igor Barcellos, Hélio A G Teive, Renato Puppi Munhoz
Corticobasal degeneration (CBD) was originally described as a distinct clinicopathological entity in 1967. Since then, different phenotypic presentations have emerged as possible manifestations of CBD histopathological findings. In addition, pathophysiological findings and the molecular basis have been delineated and several aspects of its cognitive manifestations have been clarified. Thus, not only the spectrum of what is currently designated as CBD has expanded, but overlap with other degenerative and even secondary disorders has made clinical diagnostic certainty even more challenging in the absence of specific and readily-available markers...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28807995/regulation-of-the-cell-cycle-and-inflammatory-arthritis-by-the-transcription-cofactor-lbh-gene
#11
Shinji Matsuda, Deepa Hammaker, Katharyn Topolewski, Karoline J Briegel, David L Boyle, Steven Dowdy, Wei Wang, Gary S Firestein
Rheumatoid arthritis (RA) fibroblast-like synoviocytes (FLS) display unique aggressive behavior, invading the articular cartilage and promoting inflammation. Using an integrative analysis of RA risk alleles, the transcriptome and methylome in RA FLS, we recently identified the limb bud and heart development (LBH) gene as a key dysregulated gene in RA and other autoimmune diseases. Although some evidence suggests that LBH could modulate the cell cycle, the precise mechanism is unknown and its impact on inflammation in vivo has not been defined...
August 14, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#12
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K Conlin, Bryan L Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R Lemke, Marie-José van den Boogaardt, Rikke S Møller, Bobby P C Koeleman
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28805754/-a-phenomenological-analysis-of-non-suicidal-self-injuries-in-adolescents
#13
O B Levkovskaja, Ju S Shevchenko, L Ju Danilova, V V Grachev
AIM: To perform a phenomenological/clinical/psychopathological analysis of non-suicidal self-injury behavior (NSSI) in adolescents. MATERIAL AND METHODS: The authors studied 155 adolescents, 140 girls and 15 boys, aged 12-17 years, including 111 with self-cutting, 5 with self-burning, 4 with self-beating. Other cases included combined, multiple and other variants of NSSI. RESULTS AND CONCLUSION: NSSI develop more often in female teenagers...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28805574/nonmotor-symptoms-in-vascular-and-other-secondary-parkinsonism
#14
Oleg S Levin, Achcha Sh Chimagomedova, Natalia A Skripkina, Elena A Lyashenko, Olga V Babkina
Vascular parkinsonism (VP) is a relatively frequent variant of secondary parkinsonism caused by ischemic or hemorrhagic lesions of basal ganglia, midbrain, or their links with frontal cortex. According to different investigations, various forms of cerebrovascular disease cause 1%-15% of parkinsonism cases. Nonmotor symptoms are frequently found in VP and may negatively influence on quality of life. However, nonmotor symptoms such as hallucinations, orthostatic hypotension, REM-sleep behavior disorder, and anosmia are rarely revealed in VP, which may be noted to another diagnosis or mixed pathology...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28803942/an-adaptive-individualized-fmri-delay-discounting-procedure-to-increase-flexibility-and-optimize-scanner-time
#15
Mikhail N Koffarnus, Harshawardhan U Deshpande, Jonathan M Lisinski, Anders Eklund, Warren K Bickel, Stephen M LaConte
Research on the rate at which people discount the value of future rewards has become increasingly prevalent as discount rate has been shown to be associated with many unhealthy patterns of behavior such as drug abuse, gambling, and overeating. fMRI research points to a fronto-parietal-limbic pathway that is active during decisions between smaller amounts of money now and larger amounts available after a delay. Researchers in this area have used different variants of delay discounting tasks and reported various contrasts between choice trials of different types from these tasks...
August 10, 2017: NeuroImage
https://www.readbyqxmd.com/read/28803444/atypical-parkinsonian-syndromes-a-general-neurologist-s-perspective
#16
REVIEW
Angela B Deutschländer, Owen A Ross, Dennis W Dickson, Zbigniew K Wszolek
The differential diagnosis of atypical parkinsonian syndromes is challenging. These severe and often rapidly progressive neurodegenerative disorders are clinically heterogeneous and show significant phenotypic overlap. Here we review clinical, imaging, neuropathologic and genetic features of multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal lobar degeneration (FTLD). The terms CBD and FTLD refer to pathologically confirmed cases of corticobasal syndrome (CBS) and frontotemporal dementia (FTD)...
August 12, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28802498/cutaneous-squamous-cell-carcinoma
#17
REVIEW
Vishwas Parekh, John T Seykora
Cutaneous squamous cell carcinoma (cSCC) is a malignant neoplasm of the skin characterized by an aberrant proliferation of keratinocytes. Cutaneous SCC is the second most common malignancy globally, and usually arises in the chronically sun-damaged skin of elderly white individuals. From a pathologist's perspective, it is important to differentiate cSCC from the benign and reactive squamoproliferative lesions and identify the high-risk features associated with aggressive tumor behavior. In this article, we provide an up-to-date overview of cSCC along with its precursor lesions and important histologic variants, with a particular emphasis on the histopathologic features and molecular pathogenesis...
September 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28800142/alcohol-mediated-missplicing-of-mcl-1-pre-mrna-is-involved-in-neurotoxicity
#18
Rahsan Sariyer, Francesca I De Simone, Martina Donadoni, Jan B Hoek, Sulie L Chang, Ilker Kudret Sariyer
BACKGROUND: Heavy and chronic ethanol (EtOH) exposure can cause significant structural and functional damage to the adult brain. The most devastating consequence of EtOH exposure is the neurotoxicity associated with the depletion of neurons. Regulation of splice variants in the brain can modulate protein functions, which may ultimately affect behaviors associated with alcohol dependence and EtOH-mediated neurotoxicity. Since alcohol consumption is associated with neurotoxicity, it is possible that altered splicing of survival and pro-survival factors during the development of alcoholism may contribute to the neurotoxicity...
August 11, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28799092/dissociable-learning-processes-in-comparative-psychology
#19
REVIEW
J David Smith, Barbara A Church
Comparative and cognitive psychologists interpret performance in different ways. Animal researchers invoke a dominant construct of associative learning. Human researchers acknowledge humans' capacity for explicit-declarative cognition. This article offers a way to bridge a divide that defeats productive cross-talk. We show that animals often challenge the associative-learning construct, and that it does not work to try to stretch the associative-learning construct to encompass these performances. This approach thins and impoverishes that important construct...
August 10, 2017: Psychonomic Bulletin & Review
https://www.readbyqxmd.com/read/28798004/clear-cell-variant-of-calcifying-epithelial-odontogenic-tumor-a-rare-clinical-entity
#20
Husain Sabir, Subhash Kumbhare, Saurabh Redij, Namrata Gajbhiye
Calcifying epithelial odontogenic tumor (CEOT) is a rare benign odontogenic neoplasm of the jaws. Although clear cells have been reported in approximately 8% of cases of CEOT, the exact nature of these cells in clear cell calcifying epithelial odontogenic tumor (CCEOT) has not been elucidated. Presence of clear cells in CEOT may confer a more aggressive behavior to the lesion and a tendency for recurrence and metastatic spread. We report of a case of CCEOT in a 63 year old female patient which was first treated with enucleation; however recurrence prompted a segmental resection along with coronoid and condyle...
May 2017: Gulf Journal of Oncology
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