keyword
MENU ▼
Read by QxMD icon Read
search

Genetic disease

keyword
https://www.readbyqxmd.com/read/29917197/crispr-technology-new-paradigm-to-target-the-infectious-disease-pathogens
#1
M A Bakhrebah, M S Nassar, M S Alsuabeyl, W A Zaher, S A Meo
OBJECTIVE: Infectious diseases are one of the prime causes of death worldwide. An innovative sequence specific editing technology "Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)" has been tested on a broad range of microorganisms to target and destroy invading foreign DNA to human cells or tissues. This study aimed to discuss the mechanism and therapeutic usage of CRISPR/Cas9 genome editing technology in the management of various infectious disease pathogens...
June 2018: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29917155/molecular-characteristic-and-pathogenicity-analysis-of-a-virulent-recombinant-avain-infectious-bronchitis-virus-isolated-in-china
#2
K Y Feng, T Chen, X Zhang, G M Shao, Y Cao, D K Chen, W C Lin, F Chen, Q M Xie
A virulent infectious bronchitis virus (IBV), designated as CK/CH/GD/QY16 (referred as QY16), was isolated from a diseased chicken farm in Guangdong province, China, in 2016. The complete genome of the strain was sequenced and analyzed. The results show that the genome of QY16 consists of 27,670 nucleotides, excluding poly (A) tail, and that its genome organization is 5' UTR-1a-1b-S-3a-3b-E-M-4b-4c-5a-5b-N-6b-3' UTR-poly (A) tail. Sequence comparison among QY16 and other IBV strains was conducted and its results demonstrate that the S1 gene of QY16 has the highest nucleotide sequence identity with that of 4/91, and the other part of its genome is highly similar to that of YX10...
June 15, 2018: Poultry Science
https://www.readbyqxmd.com/read/29917126/genetic-susceptibility-to-thirdhand-smoke-induced-lung-cancer-development
#3
Bo Hang, Jian-Hua Mao, Antoine M Snijders
THS, the residual tobacco smoke remaining in the environment after tobacco has been smoked, represents an underestimated public health hazard. Evidence supports its widespread presence in indoor environments. Vulnerable populations are believed to include infants and children living in a smoking household exposed to THS and/or SHS and exposure has been identified as a risk factor for lung cancer later in life. These and future studies will provide novel and important evidence of how early-life exposure to THS affects cancer development and other diseases, which should be useful for framing and enforcing new policies against passive smoking in the the world...
June 16, 2018: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/29917075/proteomic-analysis-reveals-co-ordinated-alterations-in-protein-synthesis-and-degradation-pathways-in-lrrk2-knockout-mice
#4
Laura Pellegrini, David N Hauser, Yan Li, Adamantios Mamais, Alexandra Beilina, Ravindran Kumaran, Andrea Wetzel, George Heaton, Iakov Rudenko, Mor Alkaslasi, Natalie Ivanina, Heather L Melrose, Mark R Cookson, Kirsten Harvey
Mutations in leucine-rich repeat kinase 2 (LRRK2) segregate with familial Parkinson's disease (PD) and genetic variation around LRRK2 contributes to risk of sporadic disease. Although knockout of LRRK2 or knock-in of pathogenic mutations into the mouse germline does not result in a PD phenotype, several defects have been reported in the kidneys of LRRK2 knockout mice. To understand LRRK2 function in vivo, we used an unbiased approach to determine which protein pathways are affected in LRRK2 knockout kidneys...
June 18, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29916847/haploinsufficiency-of-a20-and-other-paediatric-inflammatory-disorders-with-mucosal-involvement
#5
Florence A Aeschlimann, Ronald M Laxer
PURPOSE OF REVIEW: This review aims at summarizing the current knowledge of A20 haploinsufficiency and other paediatric inflammatory disorders with mucosal involvement. RECENT FINDINGS: A20 haploinsufficiency is a newly described autoinflammatory disease caused by loss-of-function mutations in TNFAIP3 that result in the activation of the nuclear factor (NF)-kB pathway. Patients may present with dominantly inherited, early-onset systemic inflammation and a Behçet-like disease, or a variety of autoinflammatory and autoimmune features...
June 16, 2018: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/29916806/zmynd10-functions-in-a-chaperone-relay-during-axonemal-dynein-assembly
#6
Girish R Mali, Patricia L Yeyati, Seiya Mizuno, Daniel O Dodd, Peter A Tennant, Margaret A Keighren, Petra Zur Lage, Amelia Shoemark, Amaya Garcia-Munoz, Atsuko Shimada, Hiroyuki Takeda, Frank Edlich, Satoru Takahashi, Alex von Kreisheim, Andrew Paul Jarman, Pleasantine Mill
Molecular chaperones promote the folding and macromolecular assembly of a diverse set of 'client' proteins. How ubiquitous chaperone machineries direct their activities towards specific sets of substrates is unclear. Through the use of mouse genetics, imaging and quantitative proteomics we uncover that ZMYND10 is a novel co-chaperone that confers specificity for the FKBP8-HSP90 chaperone complex towards axonemal dynein clients required for cilia motility. Loss of ZMYND10 perturbs the chaperoning of axonemal dynein heavy chains, triggering broader degradation of dynein motor subunits...
June 19, 2018: ELife
https://www.readbyqxmd.com/read/29916391/amyloodiniosis-in-cultured-dicentrarchus-labrax-parasitological-and-molecular-diagnosis-and-an-improved-treatment-protocol
#7
Mohamed Bessat, Amr Fadel
Amyloodinium ocellatum, the causative agent of amyloodiniosis (marine velvet, velvet disease), affects marine and brackish fish in various warm and temperate habitats. We recorded disease outbreaks with high morbidity and mortality rates in marine-cultured European seabass Dicentrarchus labrax fry at 2 locations in northwest Egypt. The sudden outbreak, high morbidity and mortality rates, and skin lesions with a velvety appearance in affected fish all indicated A. ocellatum infection. This was further confirmed by microscopic findings of the parasitic stage (trophonts) in skin and gill smears...
June 19, 2018: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/29916386/type-1-diabetes
#8
REVIEW
Linda A DiMeglio, Carmella Evans-Molina, Richard A Oram
Type 1 diabetes is a chronic autoimmune disease characterised by insulin deficiency and resultant hyperglycaemia. Knowledge of type 1 diabetes has rapidly increased over the past 25 years, resulting in a broad understanding about many aspects of the disease, including its genetics, epidemiology, immune and β-cell phenotypes, and disease burden. Interventions to preserve β cells have been tested, and several methods to improve clinical disease management have been assessed. However, wide gaps still exist in our understanding of type 1 diabetes and our ability to standardise clinical care and decrease disease-associated complications and burden...
June 16, 2018: Lancet
https://www.readbyqxmd.com/read/29916364/a-new-mode-of-pancreatic-islet-innervation-revealed-by-live-imaging-in-zebrafish
#9
Yu Hsuan Carol Yang, Koichi Kawakami, Didier Yr Stainier
Pancreatic islets are innervated by autonomic and sensory nerves that influence their function. Analyzing the innervation process should provide insight into the nerve-endocrine interactions and their roles in development and disease. Here, using in vivo time-lapse imaging and genetic analyses in zebrafish, we determined the events leading to islet innervation. Comparable neural density in the absence of vasculature indicates that it is dispensable for early pancreatic innervation. Neural crest cells are in close contact with endocrine cells early in development...
June 19, 2018: ELife
https://www.readbyqxmd.com/read/29916344/antimicrobial-resistance-in-pasteurellaceae-of-veterinary-origin
#10
Geovana B Michael, Janine T Bossé, Stefan Schwarz
Members of the highly heterogeneous family Pasteurellaceae cause a wide variety of diseases in humans and animals. Antimicrobial agents are the most powerful tools to control such infections. However, the acquisition of resistance genes, as well as the development of resistance-mediating mutations, significantly reduces the efficacy of the antimicrobial agents. This article gives a brief description of the role of selected members of the family Pasteurellaceae in animal infections and of the most recent data on the susceptibility status of such members...
May 2018: Microbiology Spectrum
https://www.readbyqxmd.com/read/29916064/investigating-the-genetic-diversity-of-echinococcus-granulosus-sensu-stricto-with-new-microsatellites
#11
Gérald Umhang, Frédéric Grenouillet, Vanessa Bastid, Selim M'Rad, Benoît Valot, Myriam Oudni-M'Rad, Hamouda Babba, Franck Boué
Cystic echinococcosis is a zoonotic disease with worldwide distribution caused by the larval stage of the Cestode parasite Echinococcus granulosus sensu lato. Due to the predominance or even the exclusive presence of E. granulosus sensu stricto (s.s.) among E. granulosus species in many areas, the genetic diversity needs to be further investigated at the species level to better understand the inter- and intra-focus epidemiological features. Short sequences of mitochondrial or nuclear genes generally lack or have limited discriminatory power, hindering the detection of polymorphisms to reflect geographically based peculiarities and/or any history of infection...
June 18, 2018: Parasitology Research
https://www.readbyqxmd.com/read/29916049/psp-phenotype-in-sca8-case-report-and-systemic-review
#12
Makoto Samukawa, Makito Hirano, Kazumasa Saigoh, Shigeru Kawai, Yukihiro Hamada, Daisuke Takahashi, Yusaku Nakamura, Susumu Kusunoki
Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by expanded CTA/CTG repeats in the ATXN8OS gene. Many patients had pure cerebellar ataxia, while some had parkinsonism, both without causal explanation. We analyzed the ATXN8OS gene in 150 Japanese patients with ataxia and 76 patients with Parkinson's disease or related disorders. We systematically reassessed 123 patients with SCA8, both our patients and those reported in other studies. Two patients with progressive supranuclear palsy (PSP) had mutations in the ATXN8OS gene...
June 19, 2018: Cerebellum
https://www.readbyqxmd.com/read/29916023/senataxin-a-novel-helicase-at-the-interface-of-rna-transcriptome-regulation-and-neurobiology-from-normal-function-to-pathological-roles-in-motor-neuron-disease-and-cerebellar-degeneration
#13
Craig L Bennett, Albert R La Spada
Senataxin (SETX) is a DNA-RNA helicase whose C-terminal region shows homology to the helicase domain of the yeast protein Sen1p. Genetic discoveries have established the importance of SETX for neural function, as recessive mutations in the SETX gene cause Ataxia with Oculomotor Apraxia type 2 (AOA2) (OMIM: 606002), which is the third most common form of recessive ataxia, after Friedreich's ataxia and Ataxia-Telangiectasia. In addition, rare, dominant SETX mutations cause a juvenile-onset form of Amyotrophic Lateral Sclerosis (ALS), known as ALS4...
2018: Advances in Neurobiology
https://www.readbyqxmd.com/read/29916014/an-epigenetic-spin-to-als-and-ftd
#14
Mark T W Ebbert, Rebecca J Lank, Veronique V Belzil
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two devastating and lethal neurodegenerative diseases seen comorbidly in up to 15% of patients. Despite several decades of research, no effective treatment or disease-modifying strategies have been developed. We now understand more than before about the genetics and biology behind ALS and FTD, but the genetic etiology for the majority of patients is still unknown and the phenotypic variability observed across patients, even those carrying the same mutation, is enigmatic...
2018: Advances in Neurobiology
https://www.readbyqxmd.com/read/29915816/from-genotype-to-phenotype-a-primer-on-the-functional-follow-up-of-genome-wide-association-studies-in-cardiovascular-disease
#15
Jennie Lin, Kiran Musunuru
Genome-wide association studies (GWASs) have implicated many human genomic loci in the development of complex traits. The loci identified by these studies are potentially involved in novel pathways that contribute to disease pathophysiology. However, eventual therapeutic targeting of these pathways relies on bridging the gap between genetic association and function, a task that first requires validation of causal genetic variants, casual genes, and directionality of effect. Executing this task requires basic knowledge of interpreting GWAS results and prioritizing candidates for further study, in addition to understanding the experimental methods available for evaluating candidate variants...
February 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29915775/severe-hypertriglyceridemia-presenting-as-eruptive-xanthomatosis
#16
Sameera S Vangara, Kyle D Klingbeil, Raymond M Fertig, Jason L Radick
Eruptive xanthomatosis is described as the sudden eruption of erythematous yellow papules in the presence of hypertriglyceridemia, often associated with serum triglyceride levels above 2000 mg/dl. Severe hypertriglyceridemia can be caused by primary genetic mutations, secondary chronic diseases, or a combination of both. Uncontrolled diabetes mellitus is a known risk factor. It is imperative for physicians to be aware of eruptive xanthomatosis as a warning sign for severe hypertriglyceridemia due to the underlying risk for the potentially fatal complication of acute pancreatitis...
January 2018: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/29915773/a-rare-case-of-acute-intermittent-porphyria-with-ichthyosis-vulgaris-in-a-young-boy
#17
Garima Agrawal Varshney, Purti Agrawal Saini, Upendra Ghure
Acute intermittent porphyria (AIP) and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations. Although rare in the first decade of life, the presence of reddish urine with a typical presentation such as abdominal pain, hypertension, seizure, and paresthesias lead us to the diagnosis of AIP...
January 2018: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/29915644/right-ventricular-dysplasia-management-and-treatment-in-light-of-current-evidence
#18
REVIEW
Amr Idris, Syed Raza Shah, Ki Park
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cardiovascular disease that predisposes to ventricular arrhythmias potentially leading to sudden cardiac death (SCD). ARVC varies considerably with multiple clinical presentations, ranging from no symptoms to cardiac arrhythmias to SCD. ARVC prevalence is not well known, but the estimated prevalence in the general population is 1:5000. Diagnosis of ARVC can be made by using the Revised European Society of Cardiology criteria for ARVC that includes ventricular structural and functional changes, ECG abnormalities, arrhythmias, family and genetic factors...
2018: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29915596/chronic-granulomatous-disease-first-diagnosed-in-adulthood-presenting-with-spinal-cord-infection
#19
Philipp Schwenkenbecher, Alexandra Neyazi, Frank Donnerstag, Felix C Ringshausen, Roland Jacobs, Matthias Stoll, Philip Kirschner, Florian Peter Länger, Emil Valizada, Stefan Gingele, Florian Wegner, Kurt-Wolfram Sühs, Martin Stangel, Thomas Skripuletz
Chronic granulomatous disease (CGD) is a rare genetic immunodeficiency, which is characterized by recurrent severe bacterial and fungal infections caused by a defect in phagocytic cells due to loss of superoxide production. The disease usually manifests within the first years of life. Early diagnosis allows therapeutic intervention to improve the limited life expectancy. Nevertheless, only half of the patients exceed the age of 25. Here, we present the case of a 41-year old female patient who presented with an extensive spinal cord infection and atypical pneumonia mimicking tuberculosis...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29915589/immunoglobulin-g-fragment-crystallizable-glycosylation-after-hematopoietic-stem-cell-transplantation-is-dissimilar-to-donor-profiles
#20
Noortje de Haan, Maarten J D van Tol, Gertjan J Driessen, Manfred Wuhrer, Arjan C Lankester
Immunoglobulin G (IgG) fragment crystallizable (Fc) N -glycosylation has a large influence on the affinity of the antibody for binding to Fcγ-receptors (FcγRs) and C1q protein, thereby influencing immune effector functions. IgG Fc glycosylation is known to be partly regulated by genetics and partly by stimuli in the microenvironment of the B cell. Following allogeneic hematopoietic stem cell transplantation (HSCT), and in the presence of (almost) complete donor chimerism, IgG is expected to be produced by, and glycosylated in, B cells of donor origin...
2018: Frontiers in Immunology
keyword
keyword
105064
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"