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https://www.readbyqxmd.com/read/28918081/developmental-alcohol-exposure-impairs-synaptic-plasticity-without-overtly-altering-microglial-function-in-mouse-visual-cortex
#1
Elissa L Wong, Nina M Lutz, Victoria A Hogan, Cassandra E Lamantia, Helene R McMurray, Jason R Myers, John M Ashton, Ania K Majewska
Fetal alcohol spectrum disorder (FASD), caused by gestational ethanol (EtOH) exposure, is one of the most common causes of non-heritable and life-long mental disability worldwide, with no standard treatment or therapy available. While EtOH exposure can alter the function of both neurons and glia, it is still unclear how EtOH influences brain development to cause deficits in sensory and cognitive processing later in life. Microglia play an important role in shaping synaptic function and plasticity during neural circuit development and have been shown to mount an acute immunological response to EtOH exposure in certain brain regions...
September 13, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28905228/genetic-susceptibility-in-childhood-acute-lymphoblastic-leukemia
#2
REVIEW
Angela Gutierrez-Camino, Idoia Martin-Guerrero, Africa García-Orad
Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and a leading cause of death due to disease in children. The genetic basis of ALL susceptibility has been supported by its association with certain congenital disorders and, more recently, by several genome-wide association studies (GWAS). These GWAS identified common variants in ARID5B, IKZF1, CEBPE, CDKN2A, PIP4K2A, LHPP and ELK3 influencing ALL risk. However, the risk variants of these SNPs were not validated in all populations, suggesting that some of the loci could be population specific...
September 13, 2017: Medical Oncology
https://www.readbyqxmd.com/read/28902459/exome-sequences-of-multiplex-multigenerational-families-reveal-schizophrenia-risk-loci-with-potential-implications-for-neurocognitive-performance
#3
Mark Z Kos, Melanie A Carless, Juan Peralta, Joanne E Curran, Ellen E Quillen, Marcio Almeida, August Blackburn, Lucy Blondell, David R Roalf, Michael F Pogue-Geile, Ruben C Gur, Harald H H Göring, Vishwajit L Nimgaonkar, Raquel E Gur, Laura Almasy
Schizophrenia is a serious mental illness, involving disruptions in thought and behavior, with a worldwide prevalence of about one percent. Although highly heritable, much of the genetic liability of schizophrenia is yet to be explained. We searched for susceptibility loci in multiplex, multigenerational families affected by schizophrenia, targeting protein-altering variation with in silico predicted functional effects. Exome sequencing was performed on 136 samples from eight European-American families, including 23 individuals diagnosed with schizophrenia or schizoaffective disorder...
September 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28901686/shifting-the-focus-toward-rare-variants-in-schizophrenia-to-close-the-gap-from-genotype-to-phenotype
#4
REVIEW
M Leonor Bustamante, Luisa Herrera, Pablo A Gaspar, Rodrigo Nieto, Alejandro Maturana, María José Villar, Valeria Salinas, Hernán Silva
Schizophrenia (SZ) is a disorder with a high heritability and a complex architecture. Several dozen genetic variants have been identified as risk factors through genome-wide association studies including large population-based samples. However, the bulk of the risk cannot be accounted for by the genes associated to date. Rare mutations have been historically seen as relevant only for some infrequent, Mendelian forms of psychosis. Recent findings, however, show that the subset of patients that present a mutation with major effect is larger than expected...
October 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28901453/the-role-of-gene-polymorphisms-in-endometriosis
#5
Michail Matalliotakis, Maria I Zervou, Charoula Matalliotaki, Nilufer Rahmioglu, George Koumantakis, Ioannis Kalogiannidis, Ioannis Prapas, Krina Zondervan, Demetrios A Spandidos, Ioannis Matalliotakis, George N Goulielmos
Endometriosis is a benign gynecologic disorder, affecting up to 10% of women, characterized by the presence of functional endometrial tissue at ectopic positions generally within the peritoneum. It is a heritable condition influenced by multiple genetic and environmental factors, with an overall heritability estimated at approximately 50%. In this study, we investigated whether single nucleotide polymorphisms (SNPs) rs7521902, rs10859871 and rs11031006, mapping to WNT4, VEZT and FSHB genetic loci, respectively, are associated with risk for endometriosis in a Greek population...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28892420/eating-disorders-insights-from-imaging-and-behavioral-approaches-to-treatment
#6
Eric Stice, Heather Shaw
Understanding factors that contribute to eating disorders, which affect 13% of females, is critical to developing effective prevention and treatment programs. In this paper, we summarize results from prospective studies that identified factors predicting onset and persistence of eating disorders and core symptom dimensions. Next, implications for intervention targets for prevention, and treatment interventions from the risk- and maintenance-factor findings are discussed. Third, given that evidence suggests eating disorders are highly heritable, implying biological risk and maintenance factors for eating disorders, we offer working hypotheses about biological factors that might contribute to eating disorders, based on extant risk factor findings, theory, and cross-sectional studies...
August 1, 2017: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/28887386/fragile-x-mental-retardation-protein-restricts-small-dye-iontophoresis-entry-into-central-neurons
#7
Tyler Kennedy, Kendal Broadie
Fragile X Mental Retardation Protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by autism, intellectual disability, hyperactivity and seizures. FMRP is both an RNA- and channel-binding regulator, with critical roles in neural circuit formation and function. However, it remains unclear how these FMRP activities relate to each other and how dysfunction in their absence underlies FXS neurological symptoms. In testing circuit level defects in the Drosophila FXS model, we discovered a completely unexpected and highly robust neuronal dye iontophoresis phenotype in the well-mapped Giant Fiber (GF) circuit...
September 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28881669/genetic-evaluations-of-chinese-patients-with-odontohypophosphatasia-resulting-from-heterozygosity-for-mutations-in-the-tissue-non-specific-alkaline-phosphatase-gene
#8
Jia Wan, Li Zhang, Tang Liu, Yewei Wang
BACKGROUND: Hypophosphatasia is a rare heritable metabolic disorder characterized by defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific (liver/bone/kidney) isoenzyme of alkaline phosphatase activity, caused by a number of loss-of-function mutations in the alkaline phosphatase liver type gene. We seek to explore the clinical manifestations and identify the mutations associated with the disease in a Chinese odonto- hypophosphatasia family. RESULTS: The proband and his younger brother affected with premature loss of primary teeth at their 2-year-old...
August 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28879196/assessment-of-whole-exome-sequence-data-in-attempted-suicide-within-a-bipolar-disorder-cohort
#9
Eric T Monson, Mehdi Pirooznia, Jennifer Parla, Melissa Kramer, Fernando S Goes, Marie E Gaine, Sophia C Gaynor, Kelly de Klerk, Dubravka Jancic, Rachel Karchin, W Richard McCombie, Peter P Zandi, James B Potash, Virginia L Willour
Suicidal behavior is a complex and devastating phenotype with a heritable component that has not been fully explained by existing common genetic variant analyses. This study represents the first large-scale DNA sequencing project designed to assess the role of rare functional genetic variation in suicidal behavior risk. To accomplish this, whole-exome sequencing data for ∼19,000 genes were generated for 387 bipolar disorder subjects with a history of suicide attempt and 631 bipolar disorder subjects with no prior suicide attempts...
July 2017: Molecular Neuropsychiatry
https://www.readbyqxmd.com/read/28878125/human-hepatic-organoids-for-the-analysis-of-human-genetic-diseases
#10
Yuan Guan, Dan Xu, Phillip M Garfin, Ursula Ehmer, Melissa Hurwitz, Greg Enns, Sara Michie, Manhong Wu, Ming Zheng, Toshihiko Nishimura, Julien Sage, Gary Peltz
We developed an in vitro model system where induced pluripotent stem cells (iPSCs) differentiate into 3-dimensional human hepatic organoids (HOs) through stages that resemble human liver during its embryonic development. The HOs consist of hepatocytes, and cholangiocytes, which are organized into epithelia that surround the lumina of bile duct-like structures. The organoids provide a potentially new model for liver regenerative processes, and were used to characterize the effect of different JAG1 mutations that cause: (a) Alagille syndrome (ALGS), a genetic disorder where NOTCH signaling pathway mutations impair bile duct formation, which has substantial variability in its associated clinical features; and (b) Tetralogy of Fallot (TOF), which is the most common form of a complex congenital heart disease, and is associated with several different heritable disorders...
September 7, 2017: JCI Insight
https://www.readbyqxmd.com/read/28875252/childhood-trauma-and-two-stages-of-alcohol-use-in-african-american-and-european-american-women-findings-from-a-female-twin-sample
#11
Carolyn E Sartor, Julia D Grant, Lauren R Few, Kimberly B Werner, Vivia V McCutcheon, Alexis E Duncan, Elliot C Nelson, Pamela A F Madden, Kathleen K Bucholz, Andrew C Heath, Arpana Agrawal
The current investigation assessed for moderating effects of childhood trauma on genetic and environmental contributions to timing of alcohol use initiation and alcohol use disorder in African American (AA) and European American (EA) women. Data were drawn from diagnostic telephone interviews conducted with 3786 participants (14.6% AA) in a longitudinal female twin study. Childhood trauma was defined alternately as child maltreatment and more broadly to include other events (e.g., witnessing violence). Phenotypic associations between childhood trauma and alcohol outcomes were estimated using logistic regression analyses...
September 5, 2017: Prevention Science: the Official Journal of the Society for Prevention Research
https://www.readbyqxmd.com/read/28870844/inhibitory-synapse-deficits-caused-by-familial-%C3%AE-1-gabaa-receptor-mutations-in-epilepsy
#12
Xiumin Chen, Nela Durisic, Joseph W Lynch, Angelo Keramidas
Epilepsy is a spectrum of neurological disorders with many causal factors. The GABA type-A receptor (GABAAR) is a major genetic target for heritable human epilepsies. Here we examine the functional effects of three epilepsy-causing mutations to the α1 subunit (α1(T10'I), α1(D192N) and α1(A295D)) on inhibitory postsynaptic currents (IPSCs) mediated by the major synaptic GABAAR isoform, α1β2γ2L. We employed a neuron - HEK293 cell heterosynapse preparation to record IPSCs mediated by mutant-containing GABAARs in isolation from other GABAAR isoforms...
September 1, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28868239/is-the-association-between-offspring-intelligence-and-parents-educational-attainment-influenced-by-schizophrenia-or-mood-disorder-in-parents
#13
Aja Neergaard Greve, Ole Mors, Erik Lykke Mortensen, Sandra Melanie Meier, John J McGrath, Liselotte Petersen
Results from twin, family, and adoption studies all suggest that general intelligence is highly heritable. Several studies have shown lower premorbid intelligence in individuals before the onset of both mood disorders and psychosis, as well as in children and adolescents at genetic high risk for developing schizophrenia. Based on these findings, we aim to investigate if the association between educational achievement in parents and intelligence in their offspring is influenced by schizophrenia or mood disorder in parents...
September 2017: Schizophrenia Research. Cognition
https://www.readbyqxmd.com/read/28867940/genetics-of-generalized-anxiety-disorder-and-related-traits
#14
Michael G Gottschalk, Katharina Domschke
This review serves as a systematic guide to the genetics of generalized anxiety disorder (GAD) and further focuses on anxiety-relevant endophenotypes, such as pathological worry fear of uncertainty, and neuroticism. We inspect clinical genetic evidence for the familialityl heritability of GAD and cross-disorder phenotypes based on family and twin studies. Recent advances of linkage studies, genome-wide association studies, and candidate gene studies (eg, 5-HTT, 5-HT1A, MAOA, BDNF) are outlined. Functional and structural neuroimaging and neurophysiological readouts relating to peripheral stress markers and psychophysiology are further integrated, building a multilevel disease framework...
June 2017: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28867280/interaction-between-childhood-maltreatment-on-immunogenetic-risk-in-depression-discovery-and-replication-in-clinical-case-control-samples
#15
S Cohen-Woods, H L Fisher, D Ahmetspahic, K Douroudis, D Stacey, G M Hosang, A Korszun, M Owen, N Craddock, V Arolt, U Dannowski, G Breen, I W Craig, A Farmer, B T Baune, C M Lewis, R Uher, P McGuffin
Major depressive disorder (MDD) is a prevalent disorder with moderate heritability. Both MDD and interpersonal adversity, including childhood maltreatment, have been consistently associated with elevated inflammatory markers. We investigated interaction between exposure to childhood maltreatment and extensive genetic variation within the inflammation pathway (CRP, IL1b, IL-6, IL11, TNF, TNFR1, and TNFR2) in relation to depression diagnosis. The discovery RADIANT sample included 262 cases with recurrent DSM-IV/ICD-10 MDD, and 288 unaffected controls...
August 31, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28866801/recent-advances-in-assays-for-the-fragile-x-related-disorders
#16
REVIEW
Bruce E Hayward, Daman Kumari, Karen Usdin
The fragile X-related disorders are a group of three clinical conditions resulting from the instability of a CGG-repeat tract at the 5' end of the FMR1 transcript. Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are disorders seen in carriers of FMR1 alleles with 55-200 repeats. Female carriers of these premutation (PM) alleles are also at risk of having a child who has an FMR1 allele with >200 repeats. Most of these full mutation (FM) alleles are epigenetically silenced resulting in a deficit of the FMR1 gene product, FMRP...
September 2, 2017: Human Genetics
https://www.readbyqxmd.com/read/28860775/a-case-of-paroxysmal-kinesigenic-dyskinesia-which-exhibited-the-phenotype-of-anxiety-disorder
#17
Yasuto Kunii, Nozomu Matsuda, Hirooki Yabe
BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is a rare heritable neurologic disorder characterized by attacks of involuntary movement induced by sudden voluntary movements. No previous reports have described cases showing comorbidity with psychiatric disease or symptoms. In this case, we showed a patient with PKD who exhibited several manifestations of anxiety disorder. CASE: A 35-year-old Japanese man with PKD had been maintained on carbamazepine since he was 16 years of age without any attacks...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28858097/how-frequent-is-osteogenesis-imperfecta-in-patients-with-idiopathic-osteoporosis-case-reports
#18
Ali Al Kaissi, Christian Windpassinger, Farid Ben Chehida, Maher Ben Ghachem, Nabil M Nassib, Vladimir Kenis, Eugene Melchenko, Ekatrina Morenko, Sergey Ryabykh, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: The term idiopathic osteoporosis itself is quite a non-specific disease label, which fails to address the etiological understanding. Bone mineral density alone is not a reliable parameter to detect patients at high risk of fracture. The diversity of the clinical phenotypes of discolored teeth, blueness of the sclera, back and joint pain, cardiovascular disease, Diabetes type II, hearing problems and a long list of orthopedic problems are have to be considered. PATIENTS CONCERNS: Our study has been designed in accordance with the clinical and radiological phenotype of eleven index cases with the provisional diagnosis of OI, which was followed by genotypic confirmation...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28855605/attempts-to-replicate-genetic-associations-with-schizophrenia-in-a-cohort-from-north-india
#19
Suman Prasad, Triptish Bhatia, Prachi Kukshal, Vishwajit L Nimgaonkar, Smita N Deshpande, B K Thelma
Schizophrenia is a chronic, severe, heritable disorder. Genome-wide association studies, conducted predominantly among Caucasians, have indicated > 100 risk alleles, with most significant SNPs on chromosome 6. There is growing interest as to whether these risk alleles are relevant in other ethnic groups as well. Neither an Indian genome-wide association studies nor a systematic replication of GWAS findings from other populations are reported. Thus, we analyzed 32 SNPs, including those associated in the Caucasian ancestry GWAS and other candidate gene studies, in a north Indian schizophrenia cohort (n = 1009 patients; n = 1029 controls) using a Sequenom mass array...
August 30, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28854576/genetics-of-age-related-macular-degeneration-amd
#20
Margaret M DeAngelis, Leah A Owen, Margaux A Morrison, Denise J Morgan, Mingyao Li, Akbar Shakoor, Albert Vitale, Sudha Iyengar, Dwight Stambolian, Ivana K Kim, Lindsay A Farrer
Age-related macular degeneration (AMD) is a progressive blinding disease and represents the leading cause of visual impairment in the aging population. AMD affects central vision which impairs one's ability to drive, read and recognize faces. There is no cure for this disease and current treatment modalities for the exudative form of the disease require repeated intravitreal injections which may be painful, are incompletely efficacious, and represent a significant treatment burden for both the patient and physician...
August 1, 2017: Human Molecular Genetics
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