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Neurodevelopmental diseases

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https://www.readbyqxmd.com/read/28319609/developmental-alterations-in-huntington-s-disease-neural-cells-and-pharmacological-rescue-in-cells-and-mice
#1
(no author information available yet)
Neural cultures derived from Huntington's disease (HD) patient-derived induced pluripotent stem cells were used for 'omics' analyses to identify mechanisms underlying neurodegeneration. RNA-seq analysis identified genes in glutamate and GABA signaling, axonal guidance and calcium influx whose expression was decreased in HD cultures. One-third of gene changes were in pathways regulating neuronal development and maturation. When mapped to stages of mouse striatal development, the profiles aligned with earlier embryonic stages of neuronal differentiation...
March 20, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28317875/chd7-is-indispensable-for-mammalian-brain-development-through-activation-of-a-neuronal-differentiation-programme
#2
Weijun Feng, Daisuke Kawauchi, Huiqin Körkel-Qu, Huan Deng, Elisabeth Serger, Laura Sieber, Jenna Ariel Lieberman, Silvia Jimeno-González, Sander Lambo, Bola S Hanna, Yassin Harim, Malin Jansen, Anna Neuerburg, Olga Friesen, Marc Zuckermann, Vijayanad Rajendran, Jan Gronych, Olivier Ayrault, Andrey Korshunov, David T W Jones, Marcel Kool, Paul A Northcott, Peter Lichter, Felipe Cortés-Ledesma, Stefan M Pfister, Hai-Kun Liu
Mutations in chromatin modifier genes are frequently associated with neurodevelopmental diseases. We herein demonstrate that the chromodomain helicase DNA-binding protein 7 (Chd7), frequently associated with CHARGE syndrome, is indispensable for normal cerebellar development. Genetic inactivation of Chd7 in cerebellar granule neuron progenitors leads to cerebellar hypoplasia in mice, due to the impairment of granule neuron differentiation, induction of apoptosis and abnormal localization of Purkinje cells, which closely recapitulates known clinical features in the cerebella of CHARGE patients...
March 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28304078/moving-messages-in-the-developing-brain-emerging-roles-for-mrna-transport-and-local-translation-in-neural-stem-cells
#3
REVIEW
Louis-Jan Pilaz, Debra L Silver
The mammalian cerebral cortex is a complex brain structure integral to our higher cognition. During embryonic cortical development, radial glial progenitors (RGCs) produce neurons and serve as physical structures for migrating neurons. Recent discoveries highlight new roles for RNA localization and local translation in RGCs, both at the cell body and at distal structures called basal endfeet. By implementing technologies from the field of RNA research to brain development, investigators can manipulate RNA binding proteins as well as visualize single molecule RNAs, live movement of mRNAs and their binding proteins, and translation...
March 17, 2017: FEBS Letters
https://www.readbyqxmd.com/read/28303968/sex-differences-in-dna-methylation-of-the-cord-blood-are-related-to-sex-bias-psychiatric-diseases
#4
Mariana Maschietto, Laura Caroline Bastos, Ana Carolina Tahira, Elen Pereira Bastos, Veronica Luiza Vale Euclydes, Alexandra Brentani, Günther Fink, Angelica de Baumont, Aloísio Felipe-Silva, Rossana Pulcineli Vieira Francisco, Gisele Gouveia, Sandra Josefina Ferraz Ellero Grisi, Ana Maria Ulhoa Escobar, Carlos Alberto Moreira-Filho, Guilherme Vanoni Polanczyk, Euripedes Constantino Miguel, Helena Brentani
Sex differences in the prevalence of psychiatric disorders are well documented, with exposure to stress during gestation differentially impacting females and males. We explored sex-specific DNA methylation in the cord blood of 39 females and 32 males born at term and with appropriate weight at birth regarding their potential connection to psychiatric outcomes. Mothers were interviewed to gather information about environmental factors (gestational exposure) that could interfere with the methylation profiles in the newborns...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28302742/neurodevelopmental-abnormalities-and-congenital-heart-disease-insights-into-altered-brain-maturation
#5
Paul D Morton, Nobuyuki Ishibashi, Richard A Jonas
In the past 2 decades, it has become evident that individuals born with congenital heart disease (CHD) are at risk of developing life-long neurological deficits. Multifactorial risk factors contributing to neurodevelopmental abnormalities associated with CHD have been identified; however, the underlying causes remain largely unknown, and efforts to address this issue have only recently begun. There has been a dramatic shift in focus from newly acquired brain injuries associated with corrective and palliative heart surgery to antenatal and preoperative factors governing altered brain maturation in CHD...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28300603/a-comprehensive-guide-to-the-mage-family-of-ubiquitin-ligases
#6
REVIEW
Anna K Lee, Patrick Ryan Potts
Melanoma antigen (MAGE) genes are conserved in all eukaryotes and encode for proteins sharing a common MAGE homology domain. Although only a single MAGE gene exists in lower eukaryotes, the MAGE family rapidly expanded in eutherians and consists of more than 50 highly conserved genes in humans. A subset of MAGEs initially garnered interest as cancer biomarkers and immunotherapeutic targets due to their antigenic properties and unique expression pattern that is primary restricted to germ cells and aberrantly re-activated in various cancers...
March 11, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28299803/toxicity-of-inhaled-particulate-matter-on-the-central-nervous-system-neuroinflammation-neuropsychological-effects-and-neurodegenerative-disease
#7
REVIEW
Yan Wang, Lilin Xiong, Meng Tang
Particulate matter (PM) combined with meteorological factors cause the haze, which brings inconvenience to people's daily life and deeply endanger people's health. Accumulating literature, to date, reported that PM are closely related to cardiopulmonary disease. Outpatient visits and admissions as a result of asthma and heart attacks gradually increase with an elevated concentration of PM. Owing to its special physicochemical property, the brain could be a potential target beyond the cardiopulmonary system...
March 16, 2017: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/28298623/length-dependent-gene-misexpression-is-associated-with-alzheimer-s-disease-progression
#8
Shahar Barbash, Thomas P Sakmar
Recent reports show transcription preference for long genes in neuronal tissues compared with non-neuronal tissues, and a gene-length dependent change in expression in the neurodevelopmental disease Rett syndrome (RTT). Whether the gene-length dependent changes in expression seen in RTT might also be seen in neurodegenerative diseases is not yet known. However, a reasonable hypothesis is that similar effects might be seen in neurodegenerative diseases as well as in RTT since a common general feature of both illnesses involves progressive dysfunction of synapses...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28289903/gut-microbiota-and-attention-deficit-hyperactivity-disorder-new-perspectives-for-a-challenging-condition
#9
REVIEW
María Carmen Cenit, Isabel Campillo Nuevo, Pilar Codoñer-Franch, Timothy G Dinan, Yolanda Sanz
A bidirectional communication between the gut and the brain (gut-brain axis) is well recognized with the gut microbiota viewed as a key regulator of this cross-talk. Currently, a body of preclinical and to a lesser extent epidemiological evidence supports the notion that host-microbe interactions play a key role in brain development and function and in the etiology of neurodevelopmental disorders. Early life events and shifts away from traditional lifestyles are known to impact gut microbiota composition and function and, thereby, may increase the risk of developing neurodevelopmental disorders...
March 13, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28289279/next-gen-sequencing-identifies-non-coding-variation-disrupting-mirna-binding-sites-in-neurological-disorders
#10
P Devanna, X S Chen, J Ho, D Gajewski, S D Smith, A Gialluisi, C Francks, S E Fisher, D F Newbury, S C Vernes
Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes...
March 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28288694/mtor-inhibitors-in-the-pharmacologic-management-of-tuberous-sclerosis-complex-and-their-potential-role-in-other-rare-neurodevelopmental-disorders
#11
REVIEW
David N Franz, Jamie K Capal
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is implicated in the disease pathology, and evidence exists to support the use of mTOR inhibitors in treatment. The mTOR pathway has also been investigated as a potential treatment target for several other rare diseases. TSC research has highlighted the value of pursuing targeted therapies based on underlying molecular pathophysiology...
March 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28285024/shorter-telomere-length-in-people-with-schizophrenia-a-preliminary-study-from-australia
#12
Cherrie Galletly, Varinderpal S Dhillon, Dennis Liu, Ryan P Balzan, Lisa A Hahn, Michael F Fenech
Schizophrenia is a complex mental illness affecting the normal functioning of the brain, interfering with the ability to think, feel and act. It can be conceptualised as a syndrome of accelerated ageing, with early onset of cardiovascular disease and high rates of premature mortality. Telomere attrition increases with oxidative stress and is considered a biomarker of ageing. Previous studies have assessed abnormalities in telomere length in schizophrenia, but the results are inconsistent. The present study used a case-control design to assess whether people with schizophrenia have shortened telomeres, indicative of accelerated ageing...
March 8, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28279351/single-cell-profiling-of-an-in%C3%A2-vitro-model-of-human-interneuron-development-reveals-temporal-dynamics-of-cell-type-production-and-maturation
#13
Jennie L Close, Zizhen Yao, Boaz P Levi, Jeremy A Miller, Trygve E Bakken, Vilas Menon, Jonathan T Ting, Abigail Wall, Anne-Rachel Krostag, Elliot R Thomsen, Angel M Nelson, John K Mich, Rebecca D Hodge, Soraya I Shehata, Ian A Glass, Susan Bort, Nadiya V Shapovalova, N Kiet Ngo, Joshua S Grimley, John W Phillips, Carol L Thompson, Sharad Ramanathan, Ed Lein
GABAergic interneurons are essential for neural circuit function, and their loss or dysfunction is implicated in human neuropsychiatric disease. In vitro methods for interneuron generation hold promise for studying human cellular and functional properties and, ultimately, for therapeutic cell replacement. Here we describe a protocol for generating cortical interneurons from hESCs and analyze the properties and maturation time course of cell types using single-cell RNA-seq. We find that the cell types produced mimic in vivo temporal patterns of neuron and glial production, with immature progenitors and neurons observed early and mature cortical neurons and glial cell types produced late...
March 8, 2017: Neuron
https://www.readbyqxmd.com/read/28277152/visuospatial-processing-in-adolescents-with-critical-congenital-heart-disease-organization-integration-and-implications-for-academic-achievement
#14
Jessica L Bean Jaworski, Matthew T White, David R DeMaso, Jane W Newburger, David C Bellinger, Adam R Cassidy
Among the most significant factors affecting quality of life in individuals with critical congenital heart disease (CCHD) are neurodevelopmental challenges, including deficits in visuospatial processing and academic achievement. Few studies have compared outcomes across CCHD subgroups, despite their significant differences in anatomy/physiology and medical/surgical courses. This study compared visuospatial processing abilities using the Developmental Scoring System for the Rey-Osterrieth Complex Figure (DSS-ROCF) across groups of adolescents with CCHD (d-transposition of the great arteries [TGA, n = 139], Tetralogy of Fallot [TOF, n = 68], single-ventricle cardiac anatomy requiring the Fontan operation [SVF, n = 145]) and a group of healthy controls (CTR, n = 111), and examined the validity of visuospatial processing in predicting concurrent academic outcomes...
February 16, 2017: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
https://www.readbyqxmd.com/read/28274546/long-term-outcome-of-patients-with-x-linked-adrenoleukodystrophy-a-retrospective-cohort-study
#15
Christel Tran, Jaina Patel, Hewson Stacy, Eva G Mamak, Hanna Faghfoury, Julian Raiman, Joe T R Clarke, Susan Blaser, Saadet Mercimek-Mahmutoglu
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder associated with leukodystrophy, myeloneuropathy and adrenocortical insufficiency. We performed a retrospective cohort study to evaluate long-term outcome of patients with X-ALD. METHOD: All patients with X-ALD diagnosed between 1989 and 2012 were included. Electronic patient charts were reviewed for clinical features, biochemical investigations, molecular genetic testing, neuroimaging, long-term outcome and treatment...
February 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28272117/altered-functional-connectivity-in-sickle-cell-disease-exists-at-rest-and-during-acute-pain-challenge
#16
William T Zempsky, Michael C Stevens, James P Santanelli, Alexandra M Gaynor, Sabin Khadka
OBJECTIVES: Sickle cell disease (SCD) is a chronic pain disorder in which abnormally shaped red blood cells obstruct microcirculation causing ischemia and pain. The lack of SCD responsiveness to analgesics has led many to propose that nociceptive neural systems engaged when detecting pain become sensitized, resulting in an enhancement of pain response. METHODS: SCD patients and healthy controls were exposed to a painful stimuli of varying intensity using a pressure algometer and underwent several neuroimaging tasks...
March 7, 2017: Clinical Journal of Pain
https://www.readbyqxmd.com/read/28265118/risk-alleles-of-genes-with-monoallelic-expression-are-enriched-in-gain-of-function-variants-and-depleted-in-loss-of-function-variants-for-neurodevelopmental-disorders
#17
V Savova, S Vinogradova, D Pruss, A A Gimelbrant, L A Weiss
Over 3000 human genes can be expressed from a single allele in one cell, and from the other allele-or both-in neighboring cells. Little is known about the consequences of this epigenetic phenomenon, monoallelic expression (MAE). We hypothesized that MAE increases expression variability, with a potential impact on human disease. Here, we use a chromatin signature to infer MAE for genes in lymphoblastoid cell lines and human fetal brain tissue. We confirm that across clones MAE status correlates with expression level, and that in human tissue data sets, MAE genes show increased expression variability...
March 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28264088/association-of-patent-ductus-arteriosus-ligation-with-death-or-neurodevelopmental-impairment-among-extremely-preterm-infants
#18
Dany E Weisz, Lucia Mirea, Erin Rosenberg, Maximus Jang, Linh Ly, Paige T Church, Edmond Kelly, S Joseph Kim, Amish Jain, Patrick J McNamara, Prakesh S Shah
Importance: Observational studies have associated patent ductus arteriosus (PDA) ligation among preterm infants with adverse neonatal outcomes and neurodevelopmental impairment in early childhood, with a resultant secular trend away from surgical treatment. However, to our knowledge, studies have inadequately addressed sources of residual bias, including survival bias and major neonatal morbidities arising before exposure to ligation. Objective: Evaluate the association between PDA ligation vs medical management and neonatal and neurodevelopmental outcomes...
March 6, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28261508/urea-cycle-defects-early-onset-disease-associated-with-a208t-mutation-in-otc-gene-expanding-the-clinical-phenotype
#19
Ana Isabel Sánchez, Alejandra Rincón, Mary García, Fernando Suárez-Obando
Ornithine transcarbamylase deficiency (OMIM: 311250) is the most common disorder of urea cycle disorders, accounting for nearly 50% of all cases. We report a case of a two-month- old male patient, who attends our medical genetics consultation because of low citrulline levels and elevated glutamine to citrulline ratio detected by expanded newborn screening with tandem mass spectrometry. He is an asymptomatic male with a normal physical examination and appropriate neurodevelopmental milestones. The patient has a family history of one older brother who died at 18 months old from severe and sudden hyperammonemia and a maternal aunt who suddenly died at two years old...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28261067/palatable-hyper-caloric-foods-impact-on-neuronal-plasticity
#20
REVIEW
Jean-Pascal Morin, Luis F Rodríguez-Durán, Kioko Guzmán-Ramos, Claudia Perez-Cruz, Guillaume Ferreira, Sofia Diaz-Cintra, Gustavo Pacheco-López
Neural plasticity is an intrinsic and essential characteristic of the nervous system that allows animals "self-tuning" to adapt to their environment over their lifetime. Activity-dependent synaptic plasticity in the central nervous system is a form of neural plasticity that underlies learning and memory formation, as well as long-lasting, environmentally-induced maladaptive behaviors, such as drug addiction and overeating of palatable hyper-caloric (PHc) food. In western societies, the abundance of PHc foods has caused a dramatic increase in the incidence of overweight/obesity and related disorders...
2017: Frontiers in Behavioral Neuroscience
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