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https://www.readbyqxmd.com/read/29220673/de-novo-variants-in-gria4-lead-to-intellectual-disability-with-or-without-seizures-and-gait-abnormalities
#1
Sonja Martin, Adam Chamberlin, Deepali N Shinde, Maja Hempel, Tim M Strom, Allison Schreiber, Jessika Johannsen, Lilian Bomme Ousager, Martin J Larsen, Lars Kjaersgaard Hansen, Ali Fatemi, Julie S Cohen, Johannes Lemke, Kristina P Sørensen, Katherine L Helbig, Davor Lessel, Rami Abou Jamra
Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and other symptoms. GRIA4 encodes an AMPA receptor subunit known as GluR4, which is found on excitatory glutamatergic synapses and is important for learning and memory. Four of the variants are located in the highly conserved SYTANLAAF motif in the transmembrane protein M3, and the fifth is in an extra-cellular domain. Molecular modeling of the altered protein showed that three of the variants in the SYTANLAAF motif orient toward the center of the pore region and most likely lead to disturbance of the gating mechanism...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29218792/complex-selection-on-a-regulator-of-social-cognition-evidence-of-balancing-selection-regulatory-interactions-and-population-differentiation-in-the-prairie-vole-avpr1a-locus
#2
Alejandro Berrio, Rafael F Guerrero, Galina V Aglyamova, Mariam Okhovat, Mikhail V Matz, Steven M Phelps
Adaptive variation in social behavior depends upon standing genetic variation, but we know little about how evolutionary forces shape genetic diversity relevant to brain and behavior. In prairie voles (Microtus ochrogaster), variants at the Avpr1a locus predict expression of the vasopressin 1a receptor in the retrosplenial cortex (RSC), a brain region that mediates spatial and contextual memory; cortical V1aR abundance in turn predicts diversity in space-use and sexual fidelity in the field. To examine the potential contributions of adaptive and neutral forces to variation at the Avpr1a locus, we explore sequence diversity at the Avpr1a locus and throughout the genome in two populations of wild prairie voles...
December 8, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29215920/effects-of-genetic-variants-of-st8sia2-and-ncam1-genes-on-seasonal-mood-changes-and-circadian-preference-in-the-general-population
#3
So Yung Yang, Ji Hyun Baek, Youngah Cho, Eun-Young Cho, Yujin Choi, Yongkang Kim, Taesung Park, Kyung Sue Hong
ST8SIA2 and NCAM1 are functionally related genes forming polysialic acid (PSA) - neural cell adhesion molecule (NCAM) complex in suprachiasmatic nucleus (SCN), the regulating site of circadian biological rhythm. In this study, the relationship of ST8SIA2 and NCAM1 with circadian and seasonal rhythms of human behavior was explored. Subjects were 261 healthy Korean adults who were free of any history of clinically significant psychiatric symptoms. The phenotypes were circadian preference and seasonal change of mood and behavior (seasonality) measured by the Composite Scale of Morningness and the Seasonal Pattern Assessment Questionnaire, respectively...
December 7, 2017: Chronobiology International
https://www.readbyqxmd.com/read/29215900/apoe-e4-genotype-and-lifestyle-interaction-on-cognitive-performance-results-of-the-life-adult-study
#4
Francisca S Rodriguez, Matthias L Schroeter, Katrin Arélin, A Veronica Witte, Ronny Baber, Ralph Burkhardt, Christoph Engel, Markus Löffler, Joachim Thiery, Arno Villringer, Tobias Luck, Steffi G Riedel-Heller
OBJECTIVE: Previous studies have shown that the e4-allele of the APOE gene is associated with a higher risk of developing dementia. Our study investigated whether well-known associations between lifestyle factors and cognitive functioning may be stronger in individuals who carry the dementia risk variant of the APOE gene and whether this association is amplified with older age. METHOD: Data analysis comprised 7,526 participants (aged 40- to 79-years-old) from the population-based LIFE-Adult-study...
December 7, 2017: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/29214239/protonation-enhances-the-inherent-helix-forming-propensity-of-phlip
#5
Chitrak Gupta, Blake Mertz
Cell-penetrating peptides (CPPs) can be potentially used in targeted delivery of therapeutic cargoes. However, their conformation in solution is poorly understood. We employed molecular dynamics simulations to probe the structural fluctuations of an anionic CPP, pH Low Insertion Peptide (pHLIP), in solution to determine the effects of modifications to selected residues on the structure of pHLIP. Two types of modifications were tested: (1) protonation of aspartic acid residues and (2) point mutations known to affect the acid sensitivity of pHLIP...
November 30, 2017: ACS Omega
https://www.readbyqxmd.com/read/29212393/-noninvasive-follicular-thyroid-neoplasm-with-papillary-like-nuclear-features-with-focal-spindle-cell-metaplasia
#6
Grégoire Arnoux, Marc Pusztaszeri
"Noninvasive follicular thyroid neoplasm with papillary-like nuclear features" (NIFTP) is a recent reclassification of the encapsulated follicular variant of papillary thyroid carcinoma, which is supposed to reflect its indolent clinical behavior and to prevent overtreatment of patients with this neoplasm. The diagnosis of NIFTP can only be made histologically on the surgical specimen according to specific inclusion and exclusion criteria, which requires the examination of the whole nodule and its capsule. Spindle cell proliferations, especially of follicular cell origin, arising within thyroid follicular neoplasms are very rare and may cause diagnostic difficulties...
December 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29210575/phase-separation-behavior-of-supercharged-proteins-and-polyelectrolytes
#7
Chad S Cummings, Allie C Obermeyer
Membraneless organelles, like membrane-bound organelles, are essential to cell homeostasis and provide discrete cellular sub-compartments. Unlike classical organelles, membraneless organelles possess no physical barrier, but rather arise by phase separation of the organelle components from the surrounding cytoplasm or nucleoplasm. Complex coacervation, the liquid-liquid phase separation of oppositely charged polyelectrolytes, is one of several phenomena that is hypothesized to drive the formation and regulation of some membraneless organelles...
December 6, 2017: Biochemistry
https://www.readbyqxmd.com/read/29206867/gnb3-overexpression-causes-obesity-and-metabolic-syndrome
#8
Alev Cagla Ozdemir, Grace M Wynn, Aimee Vester, M Neale Weitzmann, Gretchen N Neigh, Shanthi Srinivasan, M Katharine Rudd
The G-protein beta subunit 3 (GNB3) gene has been implicated in obesity risk; however, the molecular mechanism of GNB3-related disease is unknown. GNB3 duplication is responsible for a syndromic form of childhood obesity, and an activating DNA sequence variant (C825T) in GNB3 is also associated with obesity. To test the hypothesis that GNB3 overexpression causes obesity, we created bacterial artificial chromosome (BAC) transgenic mice that carry an extra copy of the human GNB3 risk allele. Here we show that GNB3-T/+ mice have increased adiposity, but not greater food intake or a defect in satiety...
2017: PloS One
https://www.readbyqxmd.com/read/29206664/chemoresistance-of-gastric-type-mucinous-carcinoma-of-the-uterine-cervix-a-study-of-the-sankai-gynecology-study-group
#9
Atsumi Kojima, Muneaki Shimada, Yoshiki Mikami, Shoji Nagao, Nobuhiro Takeshima, Toru Sugiyama, Norihiro Teramoto, Takako Kiyokawa, Junzo Kigawa, Ryuichiro Nishimura
OBJECTIVE: Gastric-type mucinous carcinoma (GAS) is a novel variant of mucinous carcinoma of the uterine cervix, characterized by aggressive clinical behavior and absence of high-risk human papillomavirus. We conducted this study to evaluate the chemosensitivity of GAS compared with that of usual-type endocervical adenocarcinoma (UEA) in patients who had been enrolled in our previous study. METHODS: Of 52 patients from our previous phase 2 study (SGSG005) of neoadjuvant chemotherapy with docetaxel and carboplatin for stage IB2 to IIB nonsquamous cervical cancer, 47 (stage IB2, 12; stage IIA2, 7; stage IIB, 28) were enrolled in this study with written informed consent...
December 4, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29203782/genetic-pleiotropy-between-nicotine-dependence-and-respiratory-outcomes
#10
Jushan Zhang, Shouneng Peng, Haoxiang Cheng, Yoko Nomura, Antonio Fabio Di Narzo, Ke Hao
Smoking is a major cause of respiratory conditions. To date, the genetic pleiotropy between smoking behavior and lung function/chronic obstructive pulmonary disease (COPD) have not been systematically explored. We leverage large data sets of smoking behavior, lung function and COPD, and addressed two questions, (1) whether the genetic predisposition of nicotine dependence influence COPD risk and lung function; and (2) the genetic pleiotropy follow causal or independent model. We found the genetic predisposition of nicotine dependence was associated with COPD risk, even after adjusting for smoking behavior, indicating genetic pleiotropy and independent model...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29202529/-characteristics-of-cognitive-function-behavioral-and-psychological-symptoms-in-patients-with-alzheimer-s-disease-versus-behavioral-variant-frontotemporal-dementia
#11
L L Zhang, Y Wang, Y Cheng, N Zhang
Objective: To compare the differences in cognitive function and behavioral and psychological symptoms between patients with Alzheimer's disease (AD) and behavioral variant frontotemporal dementia (bvFTD). Methods: Thirty-six AD patients and 20 bvFTD patients at mild-to-moderate stage, who were biomarker-confirmed by positron emission tomography (PET), were assessed with a neuropsychological battery and neuropsychiatry inventory (NPI). Cognitive domains, including memory, language, information processing speed and executive function, and behavioral and psychological symptoms were assessed and compared...
December 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29201014/impaired-interoceptive-accuracy-in-semantic-variant-primary-progressive-aphasia
#12
Charles R Marshall, Chris J D Hardy, Lucy L Russell, Camilla N Clark, Katrina M Dick, Emilie V Brotherhood, Rebecca L Bond, Catherine J Mummery, Jonathan M Schott, Jonathan D Rohrer, James M Kilner, Jason D Warren
Background: Interoception (the perception of internal bodily sensations) is strongly linked to emotional experience and sensitivity to the emotions of others in healthy subjects. Interoceptive impairment may contribute to the profound socioemotional symptoms that characterize frontotemporal dementia (FTD) syndromes, but remains poorly defined. Methods: Patients representing all major FTD syndromes and healthy age-matched controls performed a heartbeat counting task as a measure of interoceptive accuracy...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29200563/problems-of-face-recognition-in-patients-with-behavioral-variant-frontotemporal-dementia
#13
Sadanandavalli Retnaswami Chandra, Ketaki Patwardhan, Anupama Ramakanth Pai
Introduction: Faces are very special as they are most essential for social cognition in humans. It is partly understood that face processing in its abstractness involves several extra striate areas. One of the most important causes for caregiver suffering in patients with anterior dementia is lack of empathy. This apart from being a behavioral disorder could be also due to failure to categorize the emotions of the people around them. Patients and Methods: Inlusion criteria: DSM IV for Bv FTD Tested for prosopagnosia - familiar faces, famous face, smiling face, crying face and reflected face using a simple picture card (figure 1)...
September 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/29199077/evolution-and-genetics-of-precocious-burrowing-behavior-in-peromyscus-mice
#14
Hillery C Metz, Nicole L Bedford, Yangshu Linda Pan, Hopi E Hoekstra
A central challenge in biology is to understand how innate behaviors evolve between closely related species. One way to elucidate how differences arise is to compare the development of behavior in species with distinct adult traits [1]. Here, we report that Peromyscus polionotus is strikingly precocious with regard to burrowing behavior, but not other behaviors, compared to its sister species P. maniculatus. In P. polionotus, burrows were excavated as early as 17 days of age, whereas P. maniculatus did not build burrows until 10 days later...
November 23, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29197507/association-between-a-functional-interleukin-6-receptor-genetic-variant-and-risk-of-depression-and-psychosis-in-a-population-based-birth-cohort
#15
Golam M Khandaker, Stanley Zammit, Stephen Burgess, Glyn Lewis, Peter B Jones
OBJECTIVE: Interleukin 6 (IL-6) levels are commonly elevated in patients with depression and psychosis and in people who are at risk of developing these disorders. A common, functional variant in the IL6R gene (IL6R Asp358Ala; rs2228145 A>C) is known to dampen down inflammation by impairing IL6R signaling. We have examined the association of Asp358Ala with diagnosis of depression and psychosis, serum IL-6, CRP levels, and a number of risk factors commonly linked with inflammation, depression or psychosis...
November 29, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29196644/adaptive-laboratory-evolution-of-corynebacterium-glutamicum-towards-higher-growth-rates-on-glucose-minimal-medium
#16
Eugen Pfeifer, Cornelia Gätgens, Tino Polen, Julia Frunzke
In this work, we performed a comparative adaptive laboratory evolution experiment of the important biotechnological platform strain Corynebacterium glutamicum ATCC 13032 and its prophage-free variant MB001 towards improved growth rates on glucose minimal medium. Both strains displayed a comparable adaptation behavior and no significant differences in genomic rearrangements and mutation frequencies. Remarkably, a significant fitness leap by about 20% was observed for both strains already after 100 generations...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29194642/gene-analysis-and-structure-prediction-for-the-cold-adaption-mechanism-of-trypsin-from-the-krill-euphausia-superba-dana-1852
#17
Tingting Zhou, Xichang Wang, Juan Yan, Yan Li
BACKGROUND: The ability of Antarctic krill, Euphausia superba (Dana, 1852) to thrive in cold environment comes from its capacity to synthesize cold-adapted enzymes. Its trypsin, as a main substance in the metabolic reactions, plays a key role in the adaption to low temperatures. However, the progress of research on its cold-adaption mechanism is being influenced due to the limited information on its gene and spatial structure. RESULTS: In this paper, we studied the gene of E...
November 30, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/29194114/hiv-1-and-hepatitis-c-virus-selection-bottleneck-in-chinese-people-who-inject-drugs
#18
Fan Li, Liying Ma, Yi Feng, Yuhua Ruan, Jing Hu, Hongshuo Song, Pengtao Liu, Jun Ma, Baolin Rui, Kate Kerpen, Benjamin Scheinfeld, Tuhina Srivastava, Metzger David, Hui Li, Katharine J Bar, Yiming Shao
OBJECTIVES: For both HIV-1 and hepatitis C virus (HCV), assessing the stringency of the transmission process is a scientific priority. Enumerations of transmitted/founder (TF) viruses have shown a strict transmission bottleneck in sexual transmission of HIV-1 and a wide range in the multiplicity of infection in HCV. Here, we aim to determine the stringency of parenteral transmission for HIV -1 and HCV in people who inject drugs (PWID). DESIGN: We used molecular sequencing and several complementary analyses to enumerate the TF HIV-1 and HCV variants in a well-described cohort of PWID in Xinjiang, China...
November 30, 2017: AIDS
https://www.readbyqxmd.com/read/29192652/zc3h7b-bcor-high-grade-endometrial-stromal-sarcomas-a-report-of-17-cases-of-a-newly-defined-entity
#19
Natasha Lewis, Robert A Soslow, Deborah F Delair, Kay J Park, Rajmohan Murali, Travis J Hollmann, Ben Davidson, Francesca Micci, Ioannis Panagopoulos, Lien N Hoang, Javier A Arias-Stella, Esther Oliva, Robert H Young, Martee L Hensley, Mario M Leitao, Meera Hameed, Ryma Benayed, Marc Ladanyi, Denise Frosina, Achim A Jungbluth, Cristina R Antonescu, Sarah Chiang
High-grade endometrial stromal sarcoma likely encompasses underrecognized tumors harboring genetic abnormalities besides YWHAE-NUTM2 fusion. Triggered by three initial endometrial stromal sarcomas with ZC3H7B-BCOR fusion characterized by high-grade morphology and aggressive clinical behavior, we herein investigate the clinicopathologic features of this genetic subset by expanding the analysis to 17 such tumors. All of them occurred in adult women with a median age of 54 (range, 28-71) years. They were predominantly based in the endomyometrium and demonstrated tongue-like and/or pushing myometrial invasion...
December 1, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29190530/rare-missense-coding-variants-in-oxytocin-receptor-oxtr-in-schizophrenia-cases-are-associated-with-early-trauma-exposure-cognition-and-emotional-processing
#20
Andre B Veras, Mara Getz, Robert C Froemke, Antonio Egidio Nardi, Gilberto Sousa Alves, Julie Walsh-Messinger, Moses V Chao, Thorsten M Kranz, Dolores Malaspina
BACKGROUND: Oxytocin is a peptide hormone that influences the integration of social cognition with behavior and affect regulation. Oxytocin also prominently directs the transition of neuronal GABA neurotransmission from excitatory to inhibitory after birth. The oxytocin receptor (OXTR) is linked to schizophrenia, a heterogeneous syndrome. Relationships of OXTR polymorphisms with specific clinical features could aid in evaluating any role of oxytocin in the pathogenesis of schizophrenia...
November 22, 2017: Journal of Psychiatric Research
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