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https://www.readbyqxmd.com/read/28306229/the-2017-international-classification-of-the-ehlers-danlos-syndromes
#1
Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel-Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan Hakim, Xavier Jeunemaitre, Diana Johnson, Birgit Juul-Kristensen, Ines Kapferer-Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E Lavallee, Howard Levy, Roberto Mendoza-Londono, Melanie Pepin, F Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda J Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad Tinkle
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306225/the-ehlers-danlos-syndromes-rare-types
#2
REVIEW
Angela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke, Fransiska Malfait
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28304131/copy-number-variation-in-19-italian-multiplex-families-with-autism-spectrum-disorder-importance-of-synaptic-and-neurite-elongation-genes
#3
Carla Lintas, Chiara Picinelli, Ignazio Stefano Piras, Roberto Sacco, Claudia Brogna, Antonio M Persico
Autism Spectrum Disorder (ASD) is endowed with impressive heritability estimates and high recurrence rates. Its genetic underpinnings are nonetheless very heterogeneous, with common, and rare contributing variants located in hundreds of different loci, each characterized by variable levels of penetrance. Multiplex families from single ethnic groups represent a useful means to reduce heterogeneity and enhance genetic load. We screened 19 Italian ASD multiplex families (3 triplets and 16 duplets, total N = 41 ASD subjects), using array-CGH (Agilent 180 K)...
March 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28300615/heritability-of-brain-activity-related-to-response-inhibition-a-longitudinal-genetic-study-in-adolescent-twins
#4
Andrey P Anokhin, Simon Golosheykin, Julia D Grant, Andrew C Heath
The ability to inhibit prepotent but context- or goal-inappropriate responses is essential for adaptive self-regulation of behavior. Deficits in response inhibition, a key component of impulsivity, have been implicated as a core dysfunction in a range of neuropsychiatric disorders such as ADHD and addictions. Identification of genetically transmitted variation in the neural underpinnings of response inhibition can help to elucidate etiological pathways to these disorders and establish the links between genes, brain, and behavior...
March 11, 2017: International Journal of Psychophysiology
https://www.readbyqxmd.com/read/28295416/validating-harmful-alcohol-use-as-a-phenotype-for-genetic-discovery-using-phosphatidylethanol-and-a-polymorphism-in-adh1b
#5
Amy C Justice, Kathleen A McGinnis, Jan Tate, Ke Xu, William C Becker, Hongyu Zhao, Joel Gelernter, Henry R Kranzler
BACKGROUND: Although alcohol risk is heritable, few genetic risk variants have been identified. Longitudinal (EHR) data offer a largely untapped source of phenotypic information for genetic studies, but EHR-derived phenotypes for harmful alcohol exposure have yet to be validated. Using a variant of known effect, we used electronic health record (EHR) data to develop and validate a phenotype for harmful alcohol exposure that can be used to identify unknown genetic variants in large samples...
March 11, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28286248/cell-migration-in-schizophrenia-schizophrenia-patient-derived-cells-do-not-regulate-motility-in-response-to-extracellular-matrix
#6
Jing Yang Tee, Ratneswary Sutharsan, Yongjun Fan, Alan Mackay-Sim
Schizophrenia is a highly heritable psychiatric disorder linked to a large number of risk genes. The function of these genes in disease etiology is not fully understood but pathway analyses of genomic data suggest developmental dysregulation of cellular processes such as neuronal migration and axon guidance. Previous studies of patient-derived olfactory cells show them to be more motile than control-derived cells when grown on a fibronectin substrate, motility that is dependent on focal adhesion kinase signaling...
March 9, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28283857/gene-environment-interactions-in-adhd-the-roles-of-ses-and-chaos
#7
Karen L Gould, William L Coventry, Richard K Olson, Brian Byrne
Although attention-deficit/hyperactivity disorder (ADHD) is highly heritable, emerging evidence suggests symptoms are associated with interactions between genes and the environment (GxE) during development. This study tested whether heritability of ADHD symptoms is moderated by two environmental factors: socioeconomic status (SES) and chaos (household disorganisation). A population sample of 520 twin pairs (N = 1040, 52.3% female) from 6 to 15 years completed measures of behavior and home environment. Structural equation modelling was then used to test whether environmental factors were associated with a change in the extent to which genes explain variability in ADHD symptoms...
March 10, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28283809/genes-related-to-oxytocin-and-arginine-vasopressin-pathways-associations-with-autism-spectrum-disorders
#8
REVIEW
Rong Zhang, Hong-Feng Zhang, Ji-Sheng Han, Song-Ping Han
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorders characterized by impaired social interactions, communication deficits, and repetitive behavior. Although the mechanisms underlying its etiology and manifestations are poorly understood, several lines of evidence from rodent and human studies suggest involvement of the evolutionarily highly-conserved oxytocin (OXT) and arginine-vasopressin (AVP), as these neuropeptides modulate various aspects of mammalian social behavior. As far as we know, there is no comprehensive review of the roles of the OXT and AVP systems in the development of ASD from the genetic aspect...
March 10, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28281572/genome-wide-copy-number-variation-analysis-in-a-chinese-autism-spectrum-disorder-cohort
#9
Hui Guo, Yu Peng, Zhengmao Hu, Ying Li, Guanglei Xun, Jianjun Ou, Liangdan Sun, Zhimin Xiong, Yanling Liu, Tianyun Wang, Jingjing Chen, Lu Xia, Ting Bai, Yidong Shen, Qi Tian, Yiqiao Hu, Lu Shen, Rongjuan Zhao, Xuejun Zhang, Fengyu Zhang, Jingping Zhao, Xiaobing Zou, Kun Xia
Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with high heritability, although the underlying genetic determinants of ASDs remain largely unknown. Large-scale whole-genome studies of copy number variation in Han Chinese samples are still lacking. We performed a genome-wide copy number variation analysis of 343 ASD trios, 203 patients with sporadic cases and 988 controls in a Chinese population using Illumina genotyping platforms to identify CNVs and related genes that may contribute to ASD risk...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28276850/associations-between-period-3-gene-polymorphisms-and-sleep-chronotype-related-variables-in-patients-with-late-life-insomnia
#10
Hader A Mansour, Joel Wood, Kodavali V Chowdari, Divya Tumuluru, Mikhil Bamne, Timothy H Monk, Martica H Hall, Daniel J Buysse, Vishwajit L Nimgaonkar
A variable number tandem repeat polymorphism (VNTR) in the period 3 (PER3) gene has been associated with heritable sleep and circadian variables, including self-rated chronotypes, polysomnographic (PSG) variables, insomnia and circadian sleep-wake disorders. This report describes novel molecular and clinical analyses of PER3 VNTR polymorphisms to better define their functional consequences. As the PER3 VNTR is located in the exonic (protein coding) region of PER3, we initially investigated whether both alleles (variants) are transcribed into messenger RNA in human fibroblasts...
February 27, 2017: Chronobiology International
https://www.readbyqxmd.com/read/28275544/polygenic-risk-for-five-psychiatric-disorders-and-cross-disorder-and-disorder-specific-neural-connectivity-in-two-independent-populations
#11
Tianqi Wang, Xiaolong Zhang, Ang Li, Meifang Zhu, Shu Liu, Wen Qin, Jin Li, Chunshui Yu, Tianzi Jiang, Bing Liu
Major psychiatric disorders, including attention deficit hyperactivity disorder (ADHD), autism (AUT), bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SZ), are highly heritable and polygenic. Evidence suggests that these five disorders have both shared and distinct genetic risks and neural connectivity abnormalities. To measure aggregate genetic risks, the polygenic risk score (PGRS) was computed. Two independent general populations (N = 360 and N = 323) were separately examined to investigate whether the cross-disorder PGRS and PGRS for a specific disorder were associated with individual variability in functional connectivity...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28273291/an-integrated-neuroscience-perspective-on-formulation-and-treatment-planning-for-posttraumatic-stress-disorder-an-educational-review
#12
David A Ross, Melissa R Arbuckle, Michael J Travis, Jennifer B Dwyer, Gerrit I van Schalkwyk, Kerry J Ressler
Importance: Posttraumatic stress disorder (PTSD) is a common psychiatric illness, increasingly in the public spotlight in the United States due its prevalence in the soldiers returning from combat in Iraq and Afghanistan. This educational review presents a contemporary approach for how to incorporate a modern neuroscience perspective into an integrative case formulation. The article is organized around key neuroscience "themes" most relevant for PTSD. Within each theme, the article highlights how seemingly diverse biological, psychological, and social perspectives all intersect with our current understanding of neuroscience...
March 8, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28272467/meta-analysis-identifies-novel-risk-loci-and-yields-systematic-insights-into-the-biology-of-male-pattern-baldness
#13
Stefanie Heilmann-Heimbach, Christine Herold, Lara M Hochfeld, Axel M Hillmer, Dale R Nyholt, Julian Hecker, Asif Javed, Elaine G Y Chew, Sonali Pechlivanis, Dmitriy Drichel, Xiu Ting Heng, Ricardo C-H Del Rosario, Heide L Fier, Ralf Paus, Rico Rueedi, Tessel E Galesloot, Susanne Moebus, Thomas Anhalt, Shyam Prabhakar, Rui Li, Stavroula Kanoni, George Papanikolaou, Zoltán Kutalik, Panos Deloukas, Michael P Philpott, Gérard Waeber, Tim D Spector, Peter Vollenweider, Lambertus A L M Kiemeney, George Dedoussis, J Brent Richards, Michael Nothnagel, Nicholas G Martin, Tim Becker, David A Hinds, Markus M Nöthen
Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We identify 63 MPB-associated loci (P<5 × 10(-8), METAL) of which 23 have not been reported previously. The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes (FGF5, IRF4, DKK2) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the development of novel therapeutic options...
March 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28272115/further-evidence-for-genetic-variation-at-the-serotonin-transporter-gene-slc6a4-contributing-toward-anxiety
#14
Andreas J Forstner, Stefanie Rambau, Nina Friedrich, Kerstin U Ludwig, Anne C Böhmer, Elisabeth Mangold, Anna Maaser, Timo Hess, Alexandra Kleiman, Antje Bittner, Markus M Nöthen, Jessica Becker, Franziska Geiser, Johannes Schumacher, Rupert Conrad
OBJECTIVES: Social anxiety disorder (SAD) is a common and heritable psychiatric disorder. However, genetic studies in SAD are rare and only a few candidate genes have been implicated so far. In the present study, we investigated whether single-nucleotide polymorphisms (SNPs) associated with other psychiatric disorders also contribute toward the development of SAD and followed up variants associated with SAD on the phenotypic level. PATIENTS AND METHODS: We genotyped a total of 24 SNPs in a German sample of 321 SAD patients and 804 controls...
March 7, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28266107/refining-patterns-of-joint-hypermobility-habitus-and-orthopedic-traits-in-joint-hypermobility-syndrome-and-ehlers-danlos-syndrome-hypermobility-type
#15
Silvia Morlino, Chiara Dordoni, Isabella Sperduti, Marina Venturini, Claudia Celletti, Filippo Camerota, Marina Colombi, Marco Castori
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features...
March 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28259864/-an-attempt-to-identify-22q11-2-microdeletions-in-samples-of-the-hungarian-schizophrenia-dna-bank-by-multiplex-ligation-based-probe-amplification-mlpa-literature-review-methodology-and-results
#16
Izabella Klein, Katalin Szocs, Katalin Vincze, Judit Benkovits, Szilvia Somogyi, Levente Herman, Janos M Rethelyi
Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and social isolation) and a life-time prevalence of 0.5-1.2%. In spite of the efforts to uncover the etiology of the disorder, its pathogenesis and neurobiological background are poorly understood. Given the high heritability in schizophrenia, genetic research remains an important area of focus...
December 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28242325/genetic-approaches-for-the-study-of-ptsd-advances-and-challenges
#17
REVIEW
Sunayana B Banerjee, Filomene G Morrison, Kerry J Ressler
Post-traumatic stress disorder (PTSD) is a highly debilitating stress and anxiety-related disorder that occurs in response to specific trauma or abuse. Genetic risk factors may account for up to 30-40% of the heritability of PTSD. Understanding the gene pathways that are associated with PTSD, and how those genes interact with the fear and stress circuitry to mediate risk and resilience for PTSD will enable the development of targeted therapies to prevent the occurrence of or decrease the severity of this complex multi-gene disorder...
February 24, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28239525/reproducibility-of-tract-based-white-matter-microstructural-measures-using-the-enigma-dti-protocol
#18
Ashley Acheson, S Andrea Wijtenburg, Laura M Rowland, Anderson Winkler, Charles W Mathias, L Elliot Hong, Neda Jahanshad, Binish Patel, Paul M Thompson, Stephen A McGuire, Paul M Sherman, Peter Kochunov, Donald M Dougherty
BACKGROUND: In preparation for longitudinal analyses of white matter development in youths with family histories of substance use disorders (FH+) or without such histories (FH-), we examined the reproducibility and reliability of global and regional measures of fractional anisotropy (FA) values, measured using the Enhancing Neuro Imaging Genetics Through Meta Analysis (ENIGMA)-diffusion tensor imaging (DTI) protocol. Highly reliable measures are necessary to detect any subtle differences in brain development...
February 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28235828/independent-maternal-and-fetal-genetic-effects-on-mid-gestational-circulating-levels-of-environmental-pollutants
#19
Michela Traglia, Lisa A Croen, Kristen Lyall, Gayle C Windham, Marty Kharrazi, Gerald N DeLorenze, Anthony R Torres, Lauren A Weiss
Maternal exposure to environmental pollutants could affect fetal brain development and increase autism spectrum disorder (ASD) risk in conjunction with differential genetic susceptibility. Organohalogen congeners measured in maternal mid-pregnancy blood samples have recently shown significant, but negative associations with offspring ASD outcome. We report the first large scale maternal and fetal genetic study of the mid-pregnancy serum levels of a set of 21 organohalogens in a subset of 790 genotyped women and 764 children collected in California by the Early Markers for Autism (EMA) Project...
February 24, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28235601/a-part-of-patients-with-autism-spectrum-disorder-has-haploidy-of-hpc-1-syntaxin1a-gene-that-possibly-causes-behavioral-disturbance-as-in-experimentally-gene-ablated-mice
#20
Takefumi Kofuji, Yuko Hayashi, Tomonori Fujiwara, Masumi Sanada, Masao Tamaru, Kimio Akagawa
Autism spectrum disorder (ASD) is highly heritable and encompasses a various set of neuropsychiatric disorders with a wide-ranging presentation. HPC-1/syntaxin1A (STX1A) encodes a neuronal plasma membrane protein that regulates the secretion of neurotransmitters and neuromodulators. STX1A gene ablated mice (null and heterozygote mutant) exhibit abnormal behavioral profiles similar to human autistic symptoms, accompanied by reduction of monoamine secretion. To determine whether copy number variation of STX1A gene and the change of its expression correlate with ASD as in STX1A gene ablated mice, we performed copy number assay and real-time quantitative RT-PCR using blood or saliva samples from ASD patients...
February 22, 2017: Neuroscience Letters
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