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Heritable disorders

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https://www.readbyqxmd.com/read/28819563/novel-clcn7-compound-heterozygous-mutations-in-intermediate-autosomal-recessive-osteopetrosis
#1
Nana Okamoto, Tomohiro Kohmoto, Takuya Naruto, Kiyoshi Masuda, Takahide Komori, Issei Imoto
Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28819289/escrt-iii-membrane-trafficking-misregulation-contributes-to-fragile-x-syndrome-synaptic-defects
#2
Dominic J Vita, Kendal Broadie
The leading cause of heritable intellectual disability (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-binding translational suppressor Fragile X Mental Retardation Protein (FMRP). In the Drosophila FXS disease model, we found FMRP binds shrub mRNA (human Chmp4) to repress Shrub expression, causing overexpression during the disease state early-use critical period. The FXS hallmark is synaptic overelaboration causing circuit hyperconnectivity. Testing innervation of a central brain learning/memory center, we found FMRP loss and Shrub overexpression similarly increase connectivity...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28817956/the-role-of-intrinsic-brain-functional-connectivity-in-vulnerability-and-resilience-to-bipolar-disorder
#3
Gaelle E Doucet, Danielle S Bassett, Nailin Yao, David C Glahn, Sophia Frangou
OBJECTIVE: Bipolar disorder is a heritable disorder characterized by mood dysregulation associated with brain functional dysconnectivity. Previous research has focused on the detection of risk- and disease-associated dysconnectivity in individuals with bipolar disorder and their first-degree relatives. The present study seeks to identify adaptive brain connectivity features associated with resilience, defined here as avoidance of illness or delayed illness onset in unaffected siblings of patients with bipolar disorder...
August 18, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28816587/dna-methylation-independent-growth-restriction-and-altered-developmental-programming-in-a-mouse-model-of-preconception-male-alcohol-exposure
#4
Richard C Chang, William M Skiles, S Chronister Sarah, Haiqing Wang, Gabrielle I Sutton, Yudhishtar S Bedi, Matthew Snyder, Charles R Long, Michael C Golding
The preconception environment is a significant modifier of dysgenesis and the development of environmentally-induced disease. To date, Fetal Alcohol Spectrum Disorders (FASDs) have been exclusively associated with maternal exposures, yet emerging evidence suggests male-inherited alterations in the developmental program of sperm may be relevant to the growth-restriction phenotypes of this condition. Using a mouse model of voluntary consumption, we find chronic preconception male ethanol exposure associates with fetal growth restriction, decreased placental efficiency, abnormalities in cholesterol trafficking, sex-specific alterations in the genetic pathways regulating hepatic fibrosis, and disruptions in the regulation of imprinted genes...
August 17, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28813562/polygenic-scores-for-major-depressive-disorder-and-risk-of-alcohol-dependence
#5
Allan M Andersen, Robert H Pietrzak, Henry R Kranzler, Li Ma, Hang Zhou, Xiaoming Liu, John Kramer, Samuel Kuperman, Howard J Edenberg, John I Nurnberger, John P Rice, Jay A Tischfield, Alison Goate, Tatiana M Foroud, Jacquelyn L Meyers, Bernice Porjesz, Danielle M Dick, Victor Hesselbrock, Eric Boerwinkle, Steven M Southwick, John H Krystal, Myrna M Weissman, Douglas F Levinson, James B Potash, Joel Gelernter, Shizhong Han
Importance: Major depressive disorder (MDD) and alcohol dependence (AD) are heritable disorders with significant public health burdens, and they are frequently comorbid. Common genetic factors that influence the co-occurrence of MDD and AD have been sought in family, twin, and adoption studies, and results to date have been promising but inconclusive. Objective: To examine whether AD and MDD overlap genetically, using a polygenic score approach. Design, Settings, and Participants: Association analyses were conducted between MDD polygenic risk score (PRS) and AD case-control status in European ancestry samples from 4 independent genome-wide association study (GWAS) data sets: the Collaborative Study on the Genetics of Alcoholism (COGA); the Study of Addiction, Genetics, and Environment (SAGE); the Yale-Penn genetic study of substance dependence; and the National Health and Resilience in Veterans Study (NHRVS)...
August 16, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28813320/the-genetics-and-epigenetics-of-ptsd-overview-recent-advances-and-future-directions
#6
REVIEW
Christina M Sheerin, Mackenzie J Lind, Kaitlin E Bountress, Nicole R Nugent, Ananda B Amstadter
This paper provides a brief summary and commentary on the growing literature and current developments related to the genetic underpinnings of posttraumatic stress disorder (PTSD). We first briefly provide an overview of the behavioral genetic literature on PTSD, followed by a short synopsis of the substantial candidate gene literature with a focus on genes that have been meta-analyzed. We then discuss the genome-wide association studies (GWAS) that have been conducted, followed by an introduction to other molecular platforms used in PTSD genomic studies, such as epigenetic and expression approaches...
April 2017: Current Opinion in Psychology
https://www.readbyqxmd.com/read/28809859/do-regional-brain-volumes-and-major-depressive-disorder-share-genetic-architecture-a-study-of-generation-scotland-n-19%C3%A2-762-uk-biobank-n-24%C3%A2-048-and-the-english-longitudinal-study-of-ageing-n-5766
#7
E M Wigmore, T-K Clarke, D M Howard, M J Adams, L S Hall, Y Zeng, J Gibson, G Davies, A M Fernandez-Pujals, P A Thomson, C Hayward, B H Smith, L J Hocking, S Padmanabhan, I J Deary, D J Porteous, K K Nicodemus, A M McIntosh
Major depressive disorder (MDD) is a heritable and highly debilitating condition. It is commonly associated with subcortical volumetric abnormalities, the most replicated of these being reduced hippocampal volume. Using the most recent published data from Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) consortium's genome-wide association study of regional brain volume, we sought to test whether there is shared genetic architecture between seven subcortical brain volumes and intracranial volume (ICV) and MDD...
August 15, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28809852/the-snp-set-based-association-study-identifies-itga1-as-a-susceptibility-gene-of-attention-deficit-hyperactivity-disorder-in-han-chinese
#8
L Liu, L Zhang, H M Li, Z R Wang, X F Xie, J P Mei, J L Jin, J Shi, L Sun, S C Li, Y L Tan, L Yang, J Wang, H M Yang, Q J Qian, Y F Wang
Genome-wide association studies, which detect the association between single-nucleotide polymorphisms (SNPs) and disease susceptibility, have been extensively applied to study attention-deficit/hyperactivity disorder (ADHD), but genome-wide significant associations have not been found yet. Genetic heterogeneity and insufficient genomic coverage may account for the missing heritability. We performed a two-stage association study for ADHD in the Han Chinese population. In the discovery stage, 1033 ADHD patients and 950 healthy controls were genotyped using both the Affymetrix Genome-Wide Human SNP Array 6...
August 15, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28808052/a-small-molecule-modulator-of-cardiac-myosin-acts-on-multiple-stages-of-the-myosin-chemomechanical-cycle
#9
Raja F Kawas, Robert L Anderson, Sadie R Bartholomew Ingle, Yonghong Song, Arvinder S Sran, Hector M Rodriguez
MYK-461 is a recently discovered novel small-molecule modulator of cardiac myosin that targets the underlying sarcomere hypercontractility of hypertrophic cardiomyopathy (HCM), one of the most prevalent heritable cardiovascular disorders. Studies on isolated cells and muscle fibers, as well as intact animals, have shown that MYK-461 inhibits sarcomere force production, thereby reducing cardiac function. Initial mechanistic studies have suggested that MYK-461 primarily reduces the steady-state ATPase activity by inhibiting the rate of phosphate release of β-cardiac myosin-S1, but the molecular mechanism of action of MYK-461 has not been described...
August 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28797086/epigenetic-differences-between-monozygotic-twins-discordant-for-amyotrophic-lateral-sclerosis-als-provide-clues-to-disease-pathogenesis
#10
Paul E Young, Stephen Kum Jew, Michael E Buckland, Roger Pamphlett, Catherine M Suter
Amyotrophic lateral sclerosis (ALS) is a devastating late-onset neurodegenerative disorder in which only a small proportion of patients carry an identifiable causative genetic lesion. Despite high heritability estimates, a genetic etiology for most sporadic ALS remains elusive. Here we report the epigenetic profiling of five monozygotic twin pairs discordant for ALS, four with classic ALS and one with the progressive muscular atrophy ALS variant, in whom previous whole genome sequencing failed to uncover a genetic basis for their disease discordance...
2017: PloS One
https://www.readbyqxmd.com/read/28782645/marfan-syndrome-a-connective-tissue-disease-at-the-crossroads-of-mechanotransduction-tgf%C3%AE-signaling-and-cell-stemness
#11
REVIEW
Francesco Ramirez, Cristina Caescu, Elisabeth Wondimu, Josephine Galatioto
Mutations in fibrillin-1 cause Marfan syndrome (MFS), the most common heritable disorder of connective tissue. Fibrillin-1 assemblies (microfibrils and elastic fibers) represent a unique dual-function component of the architectural matrix. The first role is structural for they endow tissues with tensile strength and elasticity, transmit forces across them and demarcate functionally discrete areas within them. The second role is instructive in that these macroaggregates modulate a large variety of sub-cellular processes by interacting with mechanosensors, and integrin and syndecan receptors, and by modulating the bioavailability of local TGFβ signals...
August 4, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28780665/sum-scores-in-twin-growth-curve-models-practicality-versus-bias
#12
Justin M Luningham, Daniel B McArtor, Meike Bartels, Dorret I Boomsma, Gitta H Lubke
To study behavioral or psychiatric phenotypes, multiple indices of the behavior or disorder are often collected that are thought to best reflect the phenotype. Combining these items into a single score (e.g. a sum score) is a simple and practical approach for modeling such data, but this simplicity can come at a cost in longitudinal studies, where the relevance of individual items often changes as a function of age. Such changes violate the assumptions of longitudinal measurement invariance (MI), and this violation has the potential to obfuscate the interpretation of the results of latent growth models fit to sum scores...
August 5, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/28777869/-progress-in-genetic-research-on-psoriatic-arthritis
#13
Yan Ju, Erle Dang, Chunxiang Yang, Hongping Song
Psoriatic arthritis is a form of inflammatory arthritis found among patients with psoriasis, which can lead to pain, swelling or stiffness in one or more joints and even movement disorders. Epidemiological studies have shown a higher heritability for psoriatic arthritis compared with psoriasis vulgaris. With the evolvement of DNA sequencing, many genes have been associated with psoriasis vulgaris and psoriatic arthritis, which included MHC, TNF, LCE, IL23R, IL12B, TRAF3IP2 and TNFAIP3, though some, such as MHC, IL-13 and PTPN22, have been specifically associated with psoriatic arthritis...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28769743/neural-response-to-biological-motion-in-healthy-adults-varies-as-a-function-of-autistic-like-traits
#14
Meghan H Puglia, James P Morris
Perception of biological motion is an important social cognitive ability that has been mapped to specialized brain regions. Perceptual deficits and neural differences during biological motion perception have previously been associated with autism, a disorder classified by social and communication difficulties and repetitive and restricted interests and behaviors. However, the traits associated with autism are not limited to diagnostic categories, but are normally distributed within the general population and show the same patterns of heritability across the continuum...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28765789/deep-sequencing-reveals-variations-in-somatic-cell-mosaic-mutations-between-monozygotic-twins-with-discordant-psychiatric-disease
#15
Yoshiro Morimoto, Shinji Ono, Akira Imamura, Yuji Okazaki, Akira Kinoshita, Hiroyuki Mishima, Hideyuki Nakane, Hiroki Ozawa, Koh-Ichiro Yoshiura, Naohiro Kurotaki
Monozygotic (MZ) twins have been thought to be genetically identical. However, recent studies have shown discordant variants between them. We performed whole-exome sequencing (WES) in five MZ twin pairs with discordant neurodevelopmental disorders and one healthy control MZ twin to detect discordant variants. We identified three discordant variants confirmed by deep sequencing after analysis by personalized next-generation sequencing (NGS). Three mutations in FBXO38 (chr5:147774428;T>G), SMOC2 (chr6:169051385;A>G) and TDRP (chr8:442616;A>G), were detected with low allele frequency of mutant alleles on deep sequencing, suggesting that these loci are mosaic due to somatic mutations in a developmental stage...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28761083/revealing-the-complex-genetic-architecture-of-obsessive-compulsive-disorder-using-meta-analysis
#16
(no author information available yet)
Two obsessive-compulsive disorder (OCD) genome-wide association studies (GWASs) have been published by independent OCD consortia, the International Obsessive-Compulsive Disorder Foundation Genetics Collaborative (IOCDF-GC) and the OCD Collaborative Genetics Association Study (OCGAS), but many of the top-ranked signals were supported in only one study. We therefore conducted a meta-analysis from the two consortia, investigating a total of 2688 individuals of European ancestry with OCD and 7037 genomically matched controls...
August 1, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28756946/fragile-x-mental-retardation-protein-requirements-in-activity-dependent-critical-period-neural-circuit-refinement
#17
Caleb A Doll, Dominic J Vita, Kendal Broadie
Activity-dependent synaptic remodeling occurs during early-use critical periods, when naive juveniles experience sensory input. Fragile X mental retardation protein (FMRP) sculpts synaptic refinement in an activity sensor mechanism based on sensory cues, with FMRP loss causing the most common heritable autism spectrum disorder (ASD), fragile X syndrome (FXS). In the well-mapped Drosophila olfactory circuitry, projection neurons (PNs) relay peripheral sensory information to the central brain mushroom body (MB) learning/memory center...
August 7, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28756110/a-comparative-meta-analysis-of-neurocognition-in-first-degree-relatives-of-patients-with-schizophrenia-and-bipolar-disorder
#18
E Bora
OBJECTIVE: Cognitive impairment is a familial and heritable aspect of major psychoses and might be a shared vulnerability marker for schizophrenia and BP. However, it is not clear whether some aspects of cognitive deficits are uniquely associated with risk for specific diagnoses. METHODS: A novel meta-analysis of cognitive functions in first-degree relatives of probands with bipolar disorder (BP-Rel) and schizophrenia (Sch-Rel) was conducted. Current meta-analysis included 20 studies and compared cognitive functions of 1341 Sch-Rel, 939 BP-Rel and 1427 healthy controls...
July 5, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28747541/obesity-a-serious-etiologic-factor-for-male-subfertility-in-modern-society
#19
Yue Liu, Zhide Ding
Obesity, defined as excessive accumulation of fat in adipose tissue, is a metabolic disorder resulting from behavioral, environmental and heritable causes. Such malfunction increases the risk of developing hypertension, diabetes, cardiovascular disease, respiratory problems, osteoarthritis and cancer. Meanwhile, the negative impact of obesity on male reproduction is gradually being recognized. According to clinical investigations and animal experiments, obesity is correlated with reductions in sperm concentration and motility, increases in sperm DNA damage and changes in reproductive hormonal levels...
July 26, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28743113/pulmonary-hypertension-in-a-large-cohort-with-hereditary-hemorrhagic-telangiectasia
#20
Veronique Vorselaars, Sebastiaan Velthuis, Marco van Gent, Cornelis Westermann, Repke Snijder, Johannes Mager, Martijn Post
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by arteriovenous malformations in the brain, liver, and lungs. Pulmonary hypertension (PH) is increasingly recognized as a severe complication of HHT. However, there are no studies describing the prevalence of PH in HHT compared to HHT-negative controls. OBJECTIVE: To assess the estimated prevalence of PH in patients with HHT compared to HHT-negative controls. METHODS: All consecutive subjects screened for HHT with available genetic testing and echocardiography-based peak tricuspid regurgitation velocity (TRV) measurement were included...
July 26, 2017: Respiration; International Review of Thoracic Diseases
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