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https://www.readbyqxmd.com/read/29786878/dietary-omega-3-fatty-acids-differentially-impact-acute-ethanol-responsive-behaviors-and-ethanol-consumption-in-dba-2j-versus-c57bl-6j-mice
#1
Jennifer T Wolstenholme, M Scott Bowers, Alexander B Pais, A Christian Pais, Ryan S Poland, Justin L Poklis, Andrew G Davies, Jill C Bettinger
BACKGROUND: Complex interactions between environmental and genetic factors influence the risk for developing alcohol use disorder (AUD) in humans. To date, studies of the impact of environment on AUD risk have primarily focused on psychological characteristics or on the effects of developmental exposure to ethanol. We recently observed that modifying levels of the long-chain ω-3 (LC ω-3) fatty acid, eicosapentaenoic acid (EPA), alters acute physiological responses to ethanol in C. elegans...
May 22, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29786868/cis-acting-allele-specific-expression-ase-differences-induced-by-alcohol-and-impacted-by-sex-as-well-as-parental-genotype-of-origin
#2
Chiao-Ling Lo, Lawrence Lumeng, Richard L Bell, Tiebing Liang, Amy C Lossie, Williams M Muir, Feng C Zhou
BACKGROUND: Alcohol use disorders (AUDs) are influenced by complex interactions between the genetics of the individual and their environment. We have previously identified hundreds of polygenic genetic variants between the selectively bred high and low alcohol drinking (HAD and LAD) rat lines. Here we report allele specific expression (ASE) differences, between the HAD2 and LAD2 rat lines. METHODS: The HAD2 and LAD2 rats which have been sequenced were reciprocally crossed to generate 10 litters of F1 progeny...
May 22, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29786595/-genetically-determined-abnormal-electrical-activity-of-the-brain-and-the-heart
#3
Iwona Mańka-Gaca, Beata Łabuz-Roszak, Agnieszka Machowska-Majchrzak
Mutations leading to disorders within ion (mainly potassium and sodium) channels, have different degrees of expression in the brain and in the heart, which can cause simultaneous occurrence of disorders in both organs. This is manifested by the occurrence of epileptic seizures and cardiac electrical disturbances, further exacerbated by stimulation of autonomic structures within the central nervous system. In all patients with unclear paroxysmal disorders, and in those with unexplained sudden cardiac death, consideration should be given to the possibility of occurrence of genetically determined disorders in the ion channels...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29786190/-identification-of-a-new-mutation-of-the-nphp1-gene
#4
Antonella La Russa, Rosa Anna Cifarelli, Anna Perri, Angelo Saracino, Giovanni Santarsia, Renzo Bonofiglio
Kidney cystic diseases are inherited disorders causing chronic renal failure. According to the genetic defect they are classified as diseases of the primary ciliary complex and uromodulin-associated diseases. Mutations in genes coding for ciliary proteins are the basis of a broad category of genetic diseases, called ciliopathies. To date, three important ciliopathies are known: the autosomal dominant form and the recessive shape of the polycystic kidney and the nephronophthisis (NPHP). Juvenile Nephronophthisis (NPHP) is a progressive renal tubulo-interstitial disorder with a form of autosomal recessive inheritance that progresses inexorably towards terminal renal failure...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29785970/phenotypic-and-molecular-characteristics-of-androgen-insensitivity-syndrome-patients
#5
Shi-Min Yuan, Ya-Nan Zhang, Juan Du, Wen Li, Chao-Feng Tu, Lan-Lan Meng, Ge Lin, Guang-Xiu Lu, Yue-Qiu Tan
Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS...
May 18, 2018: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29785888/the-impact-of-oprm1-s-genetic-polymorphisms-on-methadone-maintenance-treatment-in-opioid-addicts-a-systematic-review
#6
Bilel Oueslati, Olfa Moula, Rim Ghachem
AIM: Methadone is a long-acting opioid receptor agonist. It is prescribed to patients with opioid-related use disorders. The OPRM1 gene encodes for methadone's main receptor. It appears that polymorphisms in OPRM1 may affect the efficacy of methadone maintenance treatment (MMT). OBJECTIVE: Our purpose was to identify all relevant published papers dealing with the impact ofOPRM1's SNPs  on MMT's efficacy and to summarize results in order to evaluate the relevance of conducting pretherapeutic genotyping in opioid addicts prior to the onset of MMT...
May 22, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29785796/recent-advances-in-understanding-inheritance-of-holoprosencephaly
#7
Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé
Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain characterized by high phenotypic and genetic heterogeneity. HPE was initially defined as an autosomal dominant disease, but recent research has shown that its mode of transmission is more complex. The past decade has witnessed rapid development of novel genetic technologies and significant progresses in clinical studies of HPE. In this review, we recapitulate genetic epidemiological studies of the largest European HPE cohort and summarize the novel genetic discoveries of HPE based on recently developed diagnostic methods...
May 22, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29785763/is-bdnf-val66met-polymorphism-associated-with-psychotic-experiences-and-psychotic-disorder-outcome-evidence-from-a-6-years-prospective-population-based-cohort-study
#8
Umut Kirli, Tolga Binbay, Marjan Drukker, Hayriye Elbi, Bülent Kayahan, Duygu Keskin Gökçelli, Ferda Özkınay, Hüseyin Onay, Köksal Alptekin, Jim van Os
There is little research on genetic risk for the extended psychosis phenotype ranging from psychotic experiences (PEs) to psychotic disorders (PDs). In this general population-based prospective cohort study, the longitudinal associations between BDNF-Val66Met polymorphism and the different levels of the extended psychosis phenotype were investigated. Addresses were contacted in a multistage clustered probability sampling frame covering 11 districts and 302 neighborhoods at baseline (n = 4011). A nested case-control study (n = 366) recruited individuals with PEs and PDs as well as individuals with no psychotic symptoms...
May 21, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29785524/a-9-year-follow-up-study-of-quantitative-muscle-strength-changes-in-myotonic-dystrophy-type-1
#9
Cynthia Gagnon, Émilie Petitclerc, Marie Kierkegaard, Jean Mathieu, Élise Duchesne, Luc J Hébert
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder presenting with major muscle impairments. However, few studies have addressed muscle strength progression using quantitative methods. The aims of this study were to document muscle strength changes in eight muscle groups among adults with DM1 over a 9-year period, and to compare this progression between phenotypes (adult and late-onset) and sex. Patients with a genetic diagnosis of DM1 with the late-onset or the adult phenotype were recruited at baseline through the clinical registry of the Saguenay Neuromuscular Clinic...
May 21, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29785254/low-rates-of-patient-reported-outcome-claims-for-orphan-drugs-approved-by-the-us-food-and-drug-administration
#10
Szymon Jarosławski, Pascal Auquier, Borislav Borissov, Claude Dussart, Mondher Toumi
Background : Claims included in package inserts (PIs) for medicinal products approved by the US Food and Drug Administration (FDA) constitute the regulatory definition of drugs' benefits and risks. Objective : We sought to assess the usage of patient-reported outcome (PRO) claims in a comprehensive set of US FDA orphan drug approvals dated between 1/1/2012 and 31/12/2016, and characterize them. Study design : Orphan drug approval documentation was obtained from the US FDA website. Drug Package Inserts (PI) were analyzed to extract information on PRO-related language...
2018: Journal of Market Access & Health Policy
https://www.readbyqxmd.com/read/29785111/association-of-serotonin-receptor-2a-haplotypes-with-obsessive-compulsive-disorder-and-its-treatment-response-in-iranian-patients-a-genetic-and-pharmacogenetic-study
#11
Marzie Sina, Abolhassan Ahmadiani, Sareh Asadi, Jamal Shams
Introduction: Obsessive-compulsive disorder (OCD) is a debilitating psychiatric disorder causing intrusive thoughts or repetitive behaviors. Serotonin reuptake inhibitors are used for OCD treatment, but 40%-60% of patients do not respond to them adequately. In this study, the associations of serotonin receptor 2a polymorphisms rs6311 and rs6313 with OCD, its familial form and fluvoxamine treatment response in Iranian population were investigated. Patients and methods: Association analyses were conducted in 293 OCD cases fulfilling the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV-TR and 245 controls...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29785013/genetic-identification-of-brain-cell-types-underlying-schizophrenia
#12
Nathan G Skene, Julien Bryois, Trygve E Bakken, Gerome Breen, James J Crowley, Héléna A Gaspar, Paola Giusti-Rodriguez, Rebecca D Hodge, Jeremy A Miller, Ana B Muñoz-Manchado, Michael C O'Donovan, Michael J Owen, Antonio F Pardiñas, Jesper Ryge, James T R Walters, Sten Linnarsson, Ed S Lein, Patrick F Sullivan, Jens Hjerling-Leffler
With few exceptions, the marked advances in knowledge about the genetic basis of schizophrenia have not converged on findings that can be confidently used for precise experimental modeling. By applying knowledge of the cellular taxonomy of the brain from single-cell RNA sequencing, we evaluated whether the genomic loci implicated in schizophrenia map onto specific brain cell types. We found that the common-variant genomic results consistently mapped to pyramidal cells, medium spiny neurons (MSNs) and certain interneurons, but far less consistently to embryonic, progenitor or glial cells...
May 21, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29784875/a-human-specific-truncated-%C3%AE-7-nicotinic-receptor-subunit-assembles-with-full-length-%C3%AE-7-and-forms-functional-receptors-with-different-stoichiometries
#13
Matías Lasala, Jeremías Corradi, Ariana Bruzzone, María Del Carmen Esandi, Cecilia Bouzat
The cholinergic α7 nicotinic receptor gene, CHRNA7, encodes a subunit that forms the homopentameric α7 receptor, involved in learning and memory. In humans, exons 5-10 in CHRNA7 are duplicated and fused to the FAM7A genetic element, giving rise to the hybrid gene CHRFAM7A. Its product, dupα7, is a truncated subunit lacking part of the N-terminal extracellular ligand-binding domain and is associated with neurological disorders, including schizophrenia, and immunomodulation.We combined dupα7 expression on mammalian cells with patch clamp recordings to understand its functional role...
May 21, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29784826/deletion-of-lrrtm1-and-lrrtm2-in-adult-mice-impairs-basal-ampa-receptor-transmission-and-ltp-in-hippocampal-ca1-pyramidal-neurons
#14
Mehdi Bhouri, Wade Morishita, Paul Temkin, Debanjan Goswami, Hiroshi Kawabe, Nils Brose, Thomas C Südhof, Ann Marie Craig, Tabrez J Siddiqui, Robert Malenka
Leucine-rich repeat transmembrane (LRRTM) proteins are synaptic cell adhesion molecules that influence synapse formation and function. They are genetically associated with neuropsychiatric disorders, and via their synaptic actions likely regulate the establishment and function of neural circuits in the mammalian brain. Here, we take advantage of the generation of a LRRTM1 and LRRTM2 double conditional knockout mouse ( LRRTM1,2 cKO) to examine the role of LRRTM1,2 at mature excitatory synapses in hippocampal CA1 pyramidal neurons...
May 21, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29784759/of-what-use-is-connectomics-a-personal-perspective-on-the-drosophila-connectome
#15
REVIEW
Ian A Meinertzhagen
The brain is a network of neurons and its biological output is behaviour. This is an exciting age, with a growing acknowledgement that the comprehensive compilation of synaptic circuits densely reconstructed in the brains of model species is now both technologically feasible and a scientifically enabling possibility in neurobiology, much as 30 years ago genomics was in molecular biology and genetics. Implemented by huge advances in electron microscope technology, especially focused ion beam-scanning electron microscope (FIB-SEM) milling (see Glossary), image capture and alignment, and computer-aided reconstruction of neuron morphologies, enormous progress has been made in the last decade in the detailed knowledge of the actual synaptic circuits formed by real neurons, in various brain regions of the fly Drosophila It is useful to distinguish synaptic pathways that are major, with 100 or more presynaptic contacts, from those that are minor, with fewer than about 10; most neurites are both presynaptic and postsynaptic, and all synaptic sites have multiple postsynaptic dendrites...
May 20, 2018: Journal of Experimental Biology
https://www.readbyqxmd.com/read/29784572/the-burden-of-familial-chylomicronemia-syndrome-results-from-the-global-in-focus-study
#16
Michael Davidson, Michael Stevenson, Andrew Hsieh, Zahid Ahmad, Jeanine Roeters van Lennep, Caroline Crowson, Joseph L Witztum
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia. Patients' burden of illness and quality of life have been poorly addressed in the literature. OBJECTIVE: To understand the ways in which FCS impacts patients' lives. METHODS: Investigation of Findings and Observations Captured in Burden of Illness Survey (IN-FOCUS) was a global web-based survey open to patients with FCS...
April 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29784061/understanding-developmental-language-disorder-the-helsinki-longitudinal-sli-study-helsli-a-study-protocol
#17
Marja Laasonen, Sini Smolander, Pekka Lahti-Nuuttila, Miika Leminen, Hanna-Reetta Lajunen, Kati Heinonen, Anu-Katriina Pesonen, Todd M Bailey, Emmanuel M Pothos, Teija Kujala, Paavo H T Leppänen, Christopher W Bartlett, Ahmed Geneid, Leena Lauronen, Elisabet Service, Sari Kunnari, Eva Arkkila
BACKGROUND: Developmental language disorder (DLD, also called specific language impairment, SLI) is a common developmental disorder comprising the largest disability group in pre-school-aged children. Approximately 7% of the population is expected to have developmental language difficulties. However, the specific etiological factors leading to DLD are not yet known and even the typical linguistic features appear to vary by language. We present here a project that investigates DLD at multiple levels of analysis and aims to make the reliable prediction and early identification of the difficulties possible...
May 21, 2018: BMC Psychology
https://www.readbyqxmd.com/read/29783943/limited-effects-of-dysfunctional-macroautophagy-on-the-accumulation-of-extracellularly-derived-%C3%AE-synuclein-in-oligodendroglia-implications-for-msa-pathogenesis
#18
Lisa Fellner, Edith Buchinger, Dominik Brueck, Regina Irschick, Gregor K Wenning, Nadia Stefanova
BACKGROUND: The progressive neurodegenerative disorder multiple system atrophy (MSA) is characterized by α-synuclein-positive (oligodendro-) glial cytoplasmic inclusions (GCIs). A connection between the abnormal accumulation of α-synuclein in GCIs and disease initiation and progression has been postulated. Mechanisms involved in the formation of GCIs are unclear. Abnormal uptake of α-synuclein from extracellular space, oligodendroglial overexpression of α-synuclein, and/or dysfunctional protein degradation including macroautophagy have all been discussed...
May 21, 2018: BMC Neuroscience
https://www.readbyqxmd.com/read/29783823/-phenotypic-and-genotypic-spectra-of-patients-with-glucose-6-phosphate-dehydrogenase-deficiency-gene-known-pathogenic-variants-a-single-center-study
#19
X Chen, L Yang, H J Wang, B B Wu, Y L Lu, X R Dong, W H Zhou
Objective: To analyze the hotspots of known pathogenic disease-causing variants of glucose-6-phosphate dehydrogenase (G6PD) and the phenotype spectrum of neonatal patients with known pathogenic disease-causing variants of G6PD. Methods: The known pathogenic disease-causing variants of G6PD were collected from Human Gene Mutation Database. Screening was performed for these variants among the 7 966 cases (2 357 neonatal, 5 609 non-neonatal) in the database of sequencing at Molecular Diagnosis Center, Children's Hospital of Fudan University...
May 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#20
Pinar Arican, Pinar Gencpinar, Dilek Cavusoglu, Nihal Olgac Dundar
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations...
May 21, 2018: Neuropediatrics
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