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https://www.readbyqxmd.com/read/28453785/structural-and-functional-characterization-of-the-pnkp-xrcc4-ligiv-dna-repair-complex
#1
R Daniel Aceytuno, Cortt G Piett, Zahra Havali-Shahriari, Ross A Edwards, Martial Rey, Ruiqiong Ye, Fatima Javed, Shujuan Fang, Rajam Mani, Michael Weinfeld, Michal Hammel, John A Tainer, David C Schriemer, Susan P Lees-Miller, J N Mark Glover
Non-homologous end joining (NHEJ) repairs DNA double strand breaks in non-cycling eukaryotic cells. NHEJ relies on polynucleotide kinase/phosphatase (PNKP), which generates 5΄-phosphate/3΄-hydroxyl DNA termini that are critical for ligation by the NHEJ DNA ligase, LigIV. PNKP and LigIV require the NHEJ scaffolding protein, XRCC4. The PNKP FHA domain binds to the CK2-phosphorylated XRCC4 C-terminal tail, while LigIV uses its tandem BRCT repeats to bind the XRCC4 coiled-coil. Yet, the assembled PNKP-XRCC4-LigIV complex remains uncharacterized...
April 27, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28449119/mutations-in-thap11-cause-an-inborn-error-of-cobalamin-metabolism-and-developmental-abnormalities
#2
Anita M Quintana, Hung-Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A Geiger, Abigail Watson, Victoria L Castro, Warren Cheung, Shu-Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S Rosenblatt, Tamim H Shaikh
CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a transcriptional co-regulator which interacts with multiple transcription factors, have been associated with cblX. HCFC1 regulates cobalamin metabolism via the regulation of MMACHC expression through its interaction with THAP11, a THAP domain-containing transcription factor. The HCFC1/THAP11 complex potentially regulates genes involved in diverse cellular functions including cell cycle, proliferation, and transcription...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448695/long-term-memory-in-older-children-adolescents-and-adults-with-autism-spectrum-disorder
#3
Diane L Williams, Nancy J Minshew, Gerald Goldstein, Carla A Mazefsky
This study extends prior memory reports in autism spectrum disorders (ASD) by investigating memory for narratives after longer recall periods and by examining developmental aspects of narrative memory using a cross-sectional design. Forty-seven older children/adolescents with ASD and 31 youth with typical development (TD) and 39 adults with ASD and 45 TD adults were compared on memory for stories from standardized measures appropriate for each age group at three intervals (immediate, 30 min, and 2 day). Both the youth with and without ASD had difficulty with memory for story details with increasing time intervals...
April 27, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28448366/project-tendr
#4
Laura Anderko
: Chemicals are ubiquitous in the food we eat, the water we drink, the air we breathe, and the products we use at work and in our personal lives. Toxic chemicals increase the risk of cognitive, behavioral, and neurodevelopmental disorders throughout the life span. The Toxic Substances Control Act of 1976 was intended to allow for the collection of data on and regulation of these chemicals but has been criticized for its significant limitations in protecting the public's health. In recognition of the scientific evidence demonstrating the connection between toxic environmental chemicals and neurodevelopmental disorders, Project TENDR (Targeting Environmental Neuro-Developmental Risks)-a collaborative initiative of scientists, health professionals, and children's health advocates-produced a call to action last July with the aim of reducing exposure to chemicals and pollutants that contribute to the development of these disorders...
May 2017: American Journal of Nursing
https://www.readbyqxmd.com/read/28448061/grand-maternal-smoking-in-pregnancy-and-grandchild-s-autistic-traits-and-diagnosed-autism
#5
Jean Golding, Genette Ellis, Steven Gregory, Karen Birmingham, Yasmin Iles-Caven, Dheeraj Rai, Marcus Pembrey
Although there is considerable research into the genetic background of autism spectrum disorders, environmental factors are likely to contribute to the variation in prevalence over time. Rodent experiments indicate that environmental exposures can have effects on subsequent generations, and human studies indicate that parental prenatal exposures may play a part in developmental variation. Here we use the Avon Longitudinal Study of Parents and Children (ALSPAC) to test the hypothesis that if the mother or father (F1) had been exposed to their own mother's (F0) smoking during pregnancy, the offspring (F2) would be at increased risk of autism...
April 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28448044/generation-of-ipsc-derived-human-brain-organoids-to-model-early-neurodevelopmental-disorders
#6
Elke Gabriel, Jay Gopalakrishnan
The restricted availability of suitable in vitro models that can reliably represent complex human brain development is a significant bottleneck that limits the translation of basic brain research into clinical application. While induced pluripotent stem cells (iPSCs) have replaced the ethically questionable human embryonic stem cells, iPSC-based neuronal differentiation studies remain descriptive at the cellular level but fail to adequately provide the details that could be derived from a complex, 3D human brain tissue...
April 14, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28447491/mobile-communication-jacket-for-people-with-severe-speech-impairment
#7
Renée Lampe, Tobias Blumenstein, Varvara Turova, Ana Alves-Pinto
PURPOSE: Cerebral palsy is a movement disorder caused by damage to motor control areas of the developing brain during early childhood. Motor disorders can also affect the ability to produce clear speech and to communicate. The aim of this study was to develop and to test a prototype of an assistive tool with an embedded mobile communication device to support patients with severe speech impairments. METHODS: A prototype was developed by equipping a cycling jacket with a display, a small keyboard, a LED and an alarm system, all controlled by a microcontroller...
April 27, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28447305/a-discrepancy-in-comprehension-and-production-in-early-language-development-in-asd-is-it-clinically-relevant
#8
Meghan M Davidson, Susan Ellis Weismer
This study examined the extent to which a discrepant comprehension-production profile (i.e., relatively more delayed comprehension than production) is characteristic of the early language phenotype in autism spectrum disorders (ASD) and tracked the developmental progression of the profile. Our findings indicated that a discrepant comprehension-production profile distinguished toddlers (30 months) with ASD from late talkers without ASD (91% sensitivity, 100% specificity) in groups that were comparable on expressive language, age, and socioeconomic status...
April 26, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28446869/fnirs-studies-on-hemispheric-asymmetry-in-atypical-neural-function-in-developmental-disorders
#9
REVIEW
Hirokazu Doi, Kazuyuki Shinohara
Functional lateralization is highly replicable trait of human neural system. Many previous studies have indicated the possibility that people with attention-deficits/hyperactivity-disorder (ADHD) and autism spectrum disorder (ASD) show hemispheric asymmetry in atypical neural function. However, despite the abundance of relevant studies, there is still ongoing controversy over this issue. In the present mini-review, we provide an overview of the hemispheric asymmetry in atypical neural function observed in fNIRS studies on people with these conditions...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28446117/prevalence-of-microcephaly-in-an-australian-population-based-birth-defects-register-1980-2015
#10
Michele Hansen, Paul K Armstrong, Carol Bower, Gareth S Baynam
OBJECTIVES: To describe the prevalence and characteristics of microcephaly in a geographically defined Australian population. DESIGN, SETTING AND PARTICIPANTS: Descriptive epidemiological study of microcephaly cases ascertained by the Western Australian Register of Developmental Anomalies, 1980-2015, defining microcephaly as an occipito-frontal head circumference below the third percentile or more than two standard deviations below the mean sex- and age-appropriate distribution curve...
May 1, 2017: Medical Journal of Australia
https://www.readbyqxmd.com/read/28444573/the-effect-of-different-types-of-nanoparticles-on-fus-and-tdp-43-solubility-and-subcellular-localization
#11
Jasna Lojk, Sonja Prpar Mihevc, Vladimir Boštjan Bregar, Mojca Pavlin, Boris Rogelj
Increased environmental pollution has been suggested as one of the possible causes for increased incidence of neurodegenerative and developmental disorders. Through the environmental pollution, everyday consumer products and nanomedical applications, we are also exposed to various nanoparticles (NPs). Specific types of NPs have been shown to be able to cause neural damage in vivo through processes such as disruption of the blood-brain barrier, induction of neuroinflammation, increase in oxidative stress and protein aggregation...
April 25, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28444245/can-a-community-of-practice-improve-physical-therapists-self-perceived-practice-in-developmental-coordination-disorder
#12
Chantal Camden, Lisa M Rivard, Karen Hurtubise, Léa Héguy, Jade Berbari
Background: Communities of practice (CoP ) are useful knowledge translation (KT) strategies but little is known about their impact on physical therapists' (PTs) self-perceived practice. Purpose: We evaluated the impact of a CoP on PTs' self-perceived practice, and explored factors influencing changes in self-perceived knowledge, skills, and practice related to developmental coordination disorder (DCD). Design: We used an explanatory sequential mixed-methods design, guided by The Theory of Reasoned Action and Theory of Planned Behavior...
April 21, 2017: Physical Therapy
https://www.readbyqxmd.com/read/28443736/brain-resting-state-functional-connectivity-is-preserved-under-sevoflurane-anesthesia-in-patients-with-pervasive-developmental-disorders-a-pilot-study
#13
Lakshmikumar Venkat Raghavan, Suparna Bharadwaj, Vincent Wourms, Audrey Tan, Michael T Jurkiewicz, David J Mikulis, Adrian P Crawley
Background Functional connectivity studies play a huge role in understanding the relationship between the network connections and the behavioral phenotype of patients with Pervasive developmental disorders (PDD). However, some patients with PDD may not tolerate the imaging procedure while awake and they often need general anesthesia. General anesthesia is a confounding factor in functional imaging studies due to its effect on the functional connectivity. The objective of this study is to look at the resting state functional connectivity (RS-FC) under sevoflurane anesthesia in patients with pervasive developmental disorders...
April 26, 2017: Brain Connectivity
https://www.readbyqxmd.com/read/28443508/nutritional-deficiency-in-early-life-facilitates-aging-associated-cognitive-decline
#14
Yu Kang, Yun Zhang, Zijuan Feng, Mingjing Liu, Yanhua Li, Huan Yang, Dan Wang, Lingling Zheng, Dandan Lou, Liangping Cheng, Chunjiang Chen, Weitao Zhou, Yi Feng, Xiaoyong Li, Jianzhong Duan, Mengjiao Yu, Shou Yang, Yuhang Liu, Xin Wang, Bo Deng, Chenghui Liu, Xiuqing Yao, Chi Zhu, Chunrong Liang, Xiaolong Zeng, Sisi Ren, Qunying Li, Yin Zhong, Yong Zhang, Jun Kang, Yong Yan, Huaqing Meng, Zhaohui Zhong, Weihui Zhou, Yanjiang Wang, Tingyu Li, Weihong Song
BACKGROUND: Nutrition is important for the fetal developmental programming. Nutritional deficiency in early life could increase the susceptibility to many aging-related disorders including cognitive decline. OBJECTIVE: Our study aims to investigate the effect of early famine exposure on aging-associated cognitive function. METHODS: We recruited 6790 subjects born between 1956 to 1964 during which the Great Chinese Famine occurred (1959-1961)...
April 24, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28443027/personalized-medication-response-prediction-for-attention-deficit-hyperactivity-disorder-learning-in-the-model-space-vs-learning-in-the-data-space
#15
Hin K Wong, Paul A Tiffin, Michael J Chappell, Thomas E Nichols, Patrick R Welsh, Orla M Doyle, Boryana C Lopez-Kolkovska, Sarah K Inglis, David Coghill, Yuan Shen, Peter Tiño
Attention-Deficit Hyperactive Disorder (ADHD) is one of the most common mental health disorders amongst school-aged children with an estimated prevalence of 5% in the global population (American Psychiatric Association, 2013). Stimulants, particularly methylphenidate (MPH), are the first-line option in the treatment of ADHD (Reeves and Schweitzer, 2004; Dopheide and Pliszka, 2009) and are prescribed to an increasing number of children and adolescents in the US and the UK every year (Safer et al., 1996; McCarthy et al...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28442404/meta-analytic-investigations-of-common-and-distinct-grey-matter-alterations-in-youths-and-adults-with-obsessive-compulsive-disorder
#16
REVIEW
Xinyu Hu, Mingying Du, Lizhou Chen, Lei Li, Ming Zhou, Lianqing Zhang, Qi Liu, Lu Lu, Kunal Mreedha, Xiaoqi Huang, Qiyong Gong
Obsessive-compulsive disorder (OCD) is a disabling illness with onset generally in childhood. OCD-youths differ from OCD-adults with regard to gender distribution, comorbidity patterns and treatment options. However, little is known about the neural correlate differences underpin those two populations. The current meta-analysis summarizes voxel based morphometry findings to elucidate whether differences of neural correlates exist between these two populations. Both OCD-youths and OCD-adults demonstrated greater striatal volume and smaller prefrontal grey matter volume (GMV)...
April 22, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28442047/increased-frequency-of-chromosome-congression-defects-and-aneuploidy-in-mouse-oocytes-cultured-at-lower-temperature
#17
Jitka Danadova, Natalie Matijescukova, Anna Mac Gillavry Danylevska, Martin Anger
Optimal culture conditions are essential for successful IVM of mammalian oocytes and for their further development into an embryo. In the present study we used live cell imaging microscopy to assess the effects of suboptimal culture temperature on various aspects of IVM, including duration of meiosis I, dynamics of polar body extrusion, chromosome congression, anaphase-promoting complex/cyclosome (APC/C) activation and aneuploidy. The data showed that even a small deviation from the optimal incubation temperature causes marked changes in the duration and synchronicity of meiosis, APC/C activity and the frequency of chromosome congression and segregation errors...
April 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/28441629/sex-matters-the-effects-of-biological-sex-on-adipose-tissue-biology-and-energy-metabolism
#18
REVIEW
Teresa G Valencak, Anne Osterrieder, Tim J Schulz
Adipose tissue is a complex and multi-faceted organ. It responds dynamically to internal and external stimuli, depending on the developmental stage and activity of the organism. The most common functional subunits of adipose tissue, white and brown adipocytes, regulate and respond to endocrine processes, which then determine metabolic rate as well as adipose tissue functions. While the molecular aspects of white and brown adipose biology have become clearer in the recent past, much less is known about sex-specific differences in regulation and deposition of adipose tissue, and the specific role of the so-called pink adipocytes during lactation in females...
April 13, 2017: Redox Biology
https://www.readbyqxmd.com/read/28440294/next-generation-dna-sequencing-identifies-novel-gene-variants-and-pathways-involved-in-specific-language-impairment
#19
Xiaowei Sylvia Chen, Rose H Reader, Alexander Hoischen, Joris A Veltman, Nuala H Simpson, Clyde Francks, Dianne F Newbury, Simon E Fisher
A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity. Developmental language disorders are highly heritable with substantial societal impact. Molecular studies have begun to identify candidate loci, but much of the underlying genetic architecture remains undetermined. We performed whole-exome sequencing of 43 unrelated probands affected by severe specific language impairment, followed by independent validations with Sanger sequencing, and analyses of segregation patterns in parents and siblings, to shed new light on aetiology...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28440058/atypical-inter-hemispheric-communication-correlates-with-altered-motor-inhibition-during-learning-of-a-new-bimanual-coordination-pattern-in-developmental-coordination-disorder
#20
Mélody Blais, David Amarantini, Jean-Michel Albaret, Yves Chaix, Jessica Tallet
Impairment of motor learning skills in developmental coordination disorder (DCD) has been reported in several studies. Some hypotheses on neural mechanisms of motor learning deficits in DCD have emerged but, to date, brain-imaging investigations are scarce. The aim of the present study is to assess possible changes in communication between brain areas during practice of a new bimanual coordination task in teenagers with DCD (n = 10) compared to matched controls (n = 10). Accuracy, stability and number of mirror movements were computed as behavioural variables...
April 25, 2017: Developmental Science
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