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Genetic disorder

Maryam Al Shehhi, Eva B Forman, Jacqueline EFitzgerald, Veronica McInerney, Janusz Krawczyk, Sanbing Shen, David R Betts, Linda Mc Ardle, Kathleen M Gorman, Mary D King, Andrew Green, Louise Gallagher, Sally A Lynch
The spectrum of phenotypes associated with heterozygous deletions of neurexin-1 (NRXN1) is diverse and includes: autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, mood disorders and congenital malformations. Reduced penetrance and variable expressivity of deletions in this gene remain a challenge for genetic counselling. We clinically reviewed 67 NRXN1 deletions from 34 families to document the phenotype and determine odds ratio. Thirty-four probands (5 adults, 29 children (<16 years)) were initially identified from a cohort clinically referred for arrayCGH...
July 18, 2018: European Journal of Medical Genetics
Maxim Dobretsov, Abdallah Hayar, Neriman T Kockara, Maxim Kozhemyakin, Kim E Light, Pankaj Patyal, Dwight R Pierce, Patricia A Wight
The α3 Na+ ,K+ -ATPase (α3 NKA) is one of four known α isoforms of the mammalian transporter. A deficiency in α3 NKA is linked to severe movement control disorders. Understanding the pathogenesis of these disorders is limited by an incomplete knowledge of α3 NKA expression in the brain as well as the challenges associated with identifying living cells that express the isoform for subsequent electrophysiological studies. To address this problem, transgenic mice were generated on the C57BL/6 genetic background, which utilize the mouse α3 subunit gene (Atp1a3) promoter to drive the expression of ZsGreen1 fluorescent protein...
July 18, 2018: Neuroscience
David Kh Lo, Marianne S Muhlebach, Alan R Smyth
BACKGROUND: Cystic fibrosis is an inherited recessive disorder of chloride transport that is characterised by recurrent and persistent pulmonary infections from resistant organisms that result in lung function deterioration and early mortality in sufferers.Meticillin-resistant Staphylococcus aureus (MRSA) has emerged as, not only an important infection in people who are hospitalised, but also as a potentially harmful pathogen in cystic fibrosis. Chronic pulmonary infection with MRSA is thought to confer people with cystic fibrosis with a worse clinical outcome and result in an increased rate of lung function decline...
July 21, 2018: Cochrane Database of Systematic Reviews
Aliasghar Keramatinia, Alireza Ahadi, Mohammad Esmaeil Akbari, Maryam Mohseny, Alireza Mosavi Jarahi, Ayad Bahadori-Monfared, Mehrdad Hashemi, Afshin Moradi, Narjes Mehrvar, Elham Kazemi, Abolfazl Movafagh
Chronic Myeloid Leukemia (CML) is a myeloproliferative disorder characterized by the genetic translocation t(9;22) (q34;q11.2) encoding for the BCR-ABL fusion oncogene. Growing body of evidence suggests that epigenetic abnormalities are involved in tyrosine kinase resistance in CML, leading to leukemic clone escape and disease propagation. The significant of therapeutic role in chronic myeloid leukemia (CML) depends on both genetic and epigenetic mechanisms.  This article focused on the CML and epigenetic and clinical significance...
June 30, 2018: Cellular and Molecular Biology
Jose L Salazar, Shinya Yamamoto
Notch signaling research dates back to more than one hundred years, beginning with the identification of the Notch mutant in the fruit fly Drosophila melanogaster. Since then, research on Notch and related genes in flies has laid the foundation of what we now know as the Notch signaling pathway. In the 1990s, basic biological and biochemical studies of Notch signaling components in mammalian systems, as well as identification of rare mutations in Notch signaling pathway genes in human patients with rare Mendelian diseases or cancer, increased the significance of this pathway in human biology and medicine...
2018: Advances in Experimental Medicine and Biology
Diana M Ho, K G Guruharsha, Spyros Artavanis-Tsakonas
The Notch pathway controls a very broad spectrum of cell fates in metazoans during development, influencing proliferation, differentiation and cell death. Given its central role in normal development and homeostasis, misregulation of Notch signals can lead to various disorders including cancer. How the Notch pathway mediates such pleiotropic and differential effects is of fundamental importance. It is becoming increasingly clear through a number of large-scale genetic and proteomic studies that Notch interacts with a staggeringly large number of other genes and pathways in a context-dependent, complex, and highly regulated network, which determines the ultimate biological outcome...
2018: Advances in Experimental Medicine and Biology
Mandy Johnstone, Robert F Hillary, David St Clair
The inception of human-induced pluripotent stem cell (hiPSCs) technology has provided an exciting platform upon which the modelling and treatment of human neurodevelopmental and neuropsychiatric disorders may be expedited. Although the genetic architecture of these disorders is far more complex than previously imagined, many key loci have at last been identified. This has allowed in vivo and in vitro technologies to be refined to model specific high-penetrant genetic loci involved in both disorders. Animal models of neurodevelopmental disorders, such as schizophrenia and autism spectrum disorders, show limitations in recapitulating the full complexity and heterogeneity of human neurodevelopmental disease states...
July 21, 2018: Current Topics in Behavioral Neurosciences
Donatella Aiello, Antonino Giambona, Filippo Leto, Cristina Passarello, Gianfranca Damiani, Aurelio Maggio, Carlo Siciliano, Anna Napoli
Coelomic fluid (CF) is the earliest dynamic and complex fluid of the gestational sac. CF contains maternal cells and proteins produced by embryonic cells, tissues and excretions. The biochemical composition of CF is modified throughout the first trimester of pregnancy and its protein profile reflects both physiological/pathological changes affecting the embryo and mother. Identification of variations in the balance of proteins might indicate particular types of pathologies, or ascertain specific genetic disorders...
July 20, 2018: Scientific Reports
Venugopal Mudgundi, Geoffrey Williams, Katherine Manou, Robert Block
Familial hypercholesterolaemia (FH) is a genetic condition that results in elevated low-density lipoprotein (LDL) cholesterol (LDL-C) levels with consequent increased risk for premature cardiovascular disease events. Although it is considered an autosomal-dominant genetic condition, the underlying genetic causes of FH can be complex. Currently most guidelines rely on clinical criteria to diagnose FH. But this approach has some pitfalls. We present a patient who was not formally diagnosed with FH using commonly used and well-accepted clinical criteria but via genetic testing was found to have a mutation for this disorder...
July 19, 2018: BMJ Case Reports
L Ukkola-Vuoti, M Torniainen-Holm, A Ortega-Alonso, V Sinha, A Tuulio-Henriksson, T Paunio, J Lönnqvist, J Suvisaari, W Hennah
Schizophrenia is a heterogeneous disorder characterized by a spectrum of symptoms and many different underlying causes. Thus, instead of using the broad diagnosis, intermediate phenotypes can be used to possibly decrease the underlying complexity of the disorder. Alongside the classical symptoms of delusions and hallucinations, cognitive deficits are a core feature of schizophrenia. To increase our understanding of the biological processes related to these cognitive deficits, we performed a genome-wide gene expression analysis...
July 17, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
Sarah F Barclay, Casey M Rand, Lisa Nguyen, Richard J A Wilson, Rachel Wevrick, William T Gibson, N Torben Bech-Hansen, Debra E Weese-Mayer
BACKGROUND: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to Prader-Willi syndrome (PWS) because both share childhood obesity as one of their most prominent and recognizable signs, and because other symptoms such as hypoventilation and autonomic dysfunction are seen in both. These phenotypic similarities suggest they might be etiologically related conditions...
July 20, 2018: Orphanet Journal of Rare Diseases
Kun Li, Rui Li, Ya Ni, Peibei Sun, Ye Liu, Dan Zhang, Hefeng Huang
BACKGROUND: Sperm selection is essential for the health of offspring conceived via assistive reproductive technology (ART). Various methods of sperm preparation for in vitro fertilization and intracytoplasmic sperm injection have been developed to acquire sperm with better quality and to avoid potential genetic disorders. However, current sperm processing and selection techniques bypass the natural selection that occurs during fertilization in vivo. The aim of this study was to present a novel distance-progesterone-combined selection approach with an original device based on the human female reproductive tract, and to report on its effectiveness based on sperm progressive motility, as well as chemotaxis...
July 20, 2018: Journal of Translational Medicine
Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica De Gregorio, Claudia Nesti, Angelo Valetto, Veronica Bertini, Benedetta Toschi, Roberta Battini, Maria Adelaide Caligo
BACKGROUND: Leigh Syndrome (LS, OMIM 256000) is an early-onset, progressive neurodegenerative disorder characterized by broad clinical and genetic heterogeneity; it is the most frequent disorder of mitochondrial energy production in children. LS inheritance is complex because patients may present mutations in mitochondrial DNA (mtDNA) or in nuclear genes, which predominantly encode proteins involved in respiratory chain structure and assembly or in coenzyme Q10 biogenesis. However, during the last 15 years, the discovery of several genetic mutations and improved knowledge of the natural history of LS has significantly increased our understanding of this mitochondrial disorder...
July 20, 2018: BMC Neurology
Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, Mohammad Silawi, Mohammad Ali Farazi Fard, Ali Adib, Ali Kafashan, Zahra Tabatabaei, Forough Sadeghipour, Mohammad Ali Faghihi
BACKGROUND: Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency due to mutations in Wiskott-Aldrich syndrome (WAS) gene. WAS gene is encoded for a multifunctional protein with key roles in actin polymerization, signaling pathways, and cytoskeletal rearrangement. Therefore, the impaired protein or its absence cause phenotypic spectrum of the disease. Since identification of novel mutations in WAS gene can help uncover the exact pathogenesis of Wiskott-Aldrich syndrome, the purpose of this study was to investigate disease causing-mutation in an Iranian male infant suspicious of this disorder...
July 20, 2018: BMC Medical Genetics
Peter Hedera, Paolo Moretti, Jane Howard, Jiali Zhao
Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurological disorders. HSP is classified as pure when only a spastic weakness of the lower extremities is present. Complex HSP comes with additional neurological or systemic abnormalities. Complex HSP with skeletal abnormalities is rare and mostly seen in autosomal recessive HSP. Autosomal dominant (AD) complex HSP with skeletal abnormalities are consistently seen only in SPG9 (spastic gait type 9). In this paper, we report a kindred condition with AD HSP among four living affected individuals who had progressive, adult onset spastic paraparesis that was associated with a distal arthrogryposis (DA) in every affected individual...
July 19, 2018: Brain Sciences
Alan R Tall
Plasma HDL levels have an inverse relationship to coronary artery disease (CAD) risk, which led to the idea that increasing HDL levels therapeutically would ameliorate atherosclerosis. Human genetic deficiency of CETP caused markedly elevated HDL and moderately reduced non-HDL cholesterol levels, suggesting that CETP inhibitors might produce cardiovascular benefit. The CETP inhibitor anacetrapib reproduced the phenotype of homozygous CETP deficiency and showed a highly significant benefit for CAD in the REVEAL trial...
July 4, 2018: Atherosclerosis
Gabriel Núñez-Vivanco, Angélica Fierro, Pablo Moya, Patricio Iturriaga-Vásquez, Miguel Reyes-Parada
The study of binding site similarities can be relevant to understand the interaction of different drugs at several molecular targets. The increasing availability of protein crystal structures and the development of novel algorithms designed to evaluate three-dimensional similarities, represent a great opportunity to explore the existence of electronic and shape features shared by clinically relevant proteins, which could assist drug design and discovery. Proteins involved in the recognition of monoaminergic neurotransmitters, such as monoamine transporters or monoamine oxidases (MAO) have been related to several psychiatric and neurological disorders such as depression or Parkinson's disease...
2018: PloS One
Li-Lin Rao, Yuan Zhou, Dang Zheng, Liu-Qing Yang, Shu Li
Excessive risk-taking behaviors have been implicated as a potential endophenotype for substance use disorders and psychopathological gambling. However, the genetic and environmental influences on risk taking and the risk-related brain activations remain unclear. This study investigated the heritability of risk taking and the genetic influence on individual variation in risk-related brain activation. The Balloon Analogue Risk Task was used to assess individuals' risk-taking behavior. In a sample of 244 pairs of young adult twins, we found that there was a moderate heritability (41%) of risk taking...
July 1, 2018: Psychological Science
Irina Benenson, Sallie Porter
Sickle cell disease (SCD) is a group of inherited disorders caused by a mutation of the hemoglobin gene, resulting in the formation of abnormal, sickle-shaped red blood cells. It is a lifelong condition characterized by anemia, vaso-occlusion, and decreased blood flow to vital tissues. Sickle cell disease affects every major organ and significantly reduces life expectancy of the affected individuals. Patients with SCD are at an increased risk for developing musculoskeletal complications that decrease quality of life and contribute to the significant burden of the disease...
July 2018: Orthopaedic Nursing
Surajit Sarkar
Tauopathies represent a group of neurodegenerative disorder which are characterized by the presence of tau positive specialized argyrophilic and insoluble intraneuronal and glial fibrillar lesions known as neurofibrillary tangles (NFTs). Tau is a neuron specific microtubule binding protein which is required for the integrity and functioning of neuronal cells, and hyperphosphorylation of tau and its subsequent aggregation and paired helical filaments (PHFs) and NFTs has emerged as one of the major pathogenic mechanisms of tauopathies in human and mammalian model systems...
July 2018: Journal of Genetics
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