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https://www.readbyqxmd.com/read/29166669/frequency-of-five-disease-causing-genetic-mutations-in-a-large-mixed-breed-dog-population-2011-2012
#1
Sharon Zierath, Angela M Hughes, Neale Fretwell, Mark Dibley, Kari J Ekenstedt
BACKGROUND: A large and growing number of inherited genetic disease mutations are now known in the dog. Frequencies of these mutations are typically examined within the breed of discovery, possibly in related breeds, but nearly always in purebred dogs. No report to date has examined the frequencies of specific genetic disease mutations in a large population of mixed-breed dogs. Further, veterinarians and dog owners typically dismiss inherited/genetic diseases as possibilities for health problems in mixed-breed dogs, assuming hybrid vigor will guarantee that single-gene disease mutations are not a cause for concern...
2017: PloS One
https://www.readbyqxmd.com/read/29166659/sex-specific-influences-of-mtdna-mitotype-and-diet-on-mitochondrial-functions-and-physiological-traits-in-drosophila-melanogaster
#2
Wen C Aw, Michael R Garvin, Richard G Melvin, J William O Ballard
Here we determine the sex-specific influence of mtDNA type (mitotype) and diet on mitochondrial functions and physiology in two Drosophila melanogaster lines. In many species, males and females differ in aspects of their energy production. These sex-specific influences may be caused by differences in evolutionary history and physiological functions. We predicted the influence of mtDNA mutations should be stronger in males than females as a result of the organelle's maternal mode of inheritance in the majority of metazoans...
2017: PloS One
https://www.readbyqxmd.com/read/29166502/outcomes-of-long-term-treatments-of-type-i-hereditary-angioedema-in-a-turkish-family
#3
Gulsen Akoglu, Belgin Kesim, Gokhan Yildiz, Ahmet Metin
BACKGROUND: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE: We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS: The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. RESULTS: Five members had experienced recurrent swellings on the face and extremities triggered by trauma...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29166365/cdc-grand-rounds-improving-the-lives-of-persons-with-sickle-cell-disease
#4
Mary Hulihan, Kathryn L Hassell, Jean L Raphael, Kim Smith-Whitley, Phoebe Thorpe
Approximately 100,000 Americans have sickle cell disease (SCD), a group of recessively inherited red blood cell disorders characterized by abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in the red blood cells. Persons with hemoglobin SS or hemoglobin Sß(0) thalassemia, also known as sickle cell anemia (SCA), have the most severe form of SCD. Hemoglobin SC disease and hemoglobin Sß(+) thalassemia are other common forms of SCD. Red blood cells that contain sickle hemoglobin are inflexible and can stick to vessel walls, causing a blockage that slows or stops blood flow...
November 24, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29165759/transient-receptor-potential-melastatin-4-cation-channel-in-pediatric-heart-block
#5
J Tian, X-J An, M-Y Fu
Progressive cardiac conduction disease (PCCD) is a common pediatric heart conduction disorder. It is an autosomal inheritance of rare mutations, which leads to familial cases of PCCD. In these cases, the His-Purkinje system's conductive capacity is progressively deranged, involving either right or left bundle branch block. Also, QRS complexes display widening is an important characteristic that culminates in complete AV block, syncope, and sudden death. Mutations in TRPM4 gene that encodes for transient receptor potential melastatin 4 have recently been reported to cause familial cases of PCCD and heart block...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29165739/inhibitors-in-patients-with-congenital-bleeding-disorders-other-than-hemophilia
#6
Massimo Franchini, Giuseppe Marano, Carlo Mengoli, Vanessa Piccinini, Simonetta Pupella, Stefania Vaglio, Giancarlo Maria Liumbruno
The most worrying complication of replacement therapy for severe hemophilia A and B is currently the occurrence of inhibitory alloantibodies against infused factor VIII and factor IX, respectively. Inhibitors compromise the management of hemorrhage in affected patients, with a considerable increase in complications, disability, and costs. While these alloantibodies have been extensively studied in the past years in hemophilia A and B, those occurring in patients with other inherited bleeding disorders are less well characterized and still poorly understood, mostly due to the rarity of these hemorrhagic conditions...
November 17, 2017: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29165738/alloantibodies-in-von-willebrand-disease
#7
Massimo Franchini, Pier Mannuccio Mannucci
von Willebrand disease (VWD), the most commonly known inherited bleeding disorder, is caused by a partial (type 1) or total (type 3) deficiency or dysfunction (type 2) of von Willebrand factor (VWF). Its management encompasses the prevention or treatment of bleeding by raising endogenous VWF levels using a synthetic agent, such as desmopressin, or providing exogenous VWF concentrates. The development of inhibitory alloantibodies against VWF is a rare but often severe complication encountered during the treatment of type 3 VWD, which is associated with a lack of hemostatic response to infused VWF concentrates and more rarely with allergic, even anaphylactic, reactions...
November 17, 2017: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29165578/clues-for-polygenic-inheritance-of-pituitary-stalk-interruption-syndrome-by-exome-sequencing-in-20-patients
#8
Nitash Zwaveling-Soonawala, Marielle Alders, Aldo Jongejan, Lidija Kovacic, Floor A Duijkers, Saskia M Maas, Eric Fliers, A S Paul van Trotsenburg, Raoul C Hennekam
Context: Pituitary stalk interruption syndrome (PSIS) consists of a small/absent anterior pituitary lobe, interrupted/absent pituitary stalk, and an ectopic posterior pituitary lobe. Mendelian forms of PSIS are detected infrequently (< 5%), and a polygenic etiology has been suggested. GLI2 variants have been reported in a relatively high frequency in PSIS. Objective: To provide further evidence for a non-Mendelian, polygenic etiology of PSIS. Methods: Exome sequencing (trio approach) in 20 patients with isolated PSIS...
November 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29164982/spinocerebellar-ataxia-type-3-presenting-with-writer-s-cramp-without-ataxia
#9
A Méndez-Guerrero, D Uriarte-Pérez de Urabayen, S Llamas-Velasco
Spinocerebellar ataxia type 3 is the most common cause of autosomal dominant inherited ataxia worldwide. Clinically, it exhibits wide phenotypic variability. Presentation as isolated dystonia is exceptional. Here, the case of a woman with writer´s cramp without ataxia is presented as a paucisymptomatic manifestation of this disease. This association has not been described to date and extends the clinical variability of the disease.
November 22, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29164348/delineation-of-inheritance-pattern-of-aleurone-layer-colour-through-chemical-tests-in-rice
#10
Chandu Singh, Sripathy K V, Jeevan Kumar S P, Bhojaraja Naik K, Govind Pal, Udaya Bhaskar K, Ramesh K V, Somasundaram G
BACKGROUND: Rice aleurone layer develops different colours with various chemical tests that may help to develop some rapid tests for identification/grouping of rice varieties. Understanding the colour inheritance pattern could enable to develop chemical clues that may help for genetic purity analysis along with grow-out-test. RESULTS: In this study, inheritance pattern of aleurone layer colour was studied in parents, F1 and F2 progenies derived from the crosses IR 36 × Acc...
November 21, 2017: Rice
https://www.readbyqxmd.com/read/29163631/prenatal-diagnosis-of-fragile-x-can-a-full-mutation-allele-in-the-fmr1-gene-contract-to-a-normal-size
#11
Esther Manor, Azhar Jabareen, Nurit Magal, Arei Kofman, Randi J Hagerman, Flora Tassone
Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range (19 CGG repeats). Haplotype analysis showed that the fetus 19 CGG repeats allele derived from the maternal unstable allele which was inherited from his maternal grandmother. No size mosaicism was detected by testing the DNA from in vitro cultured samples, including seventh passage culture as well as from two amniocentesis samples...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29163576/quantitative-trait-loci-and-maternal-effects-affecting-the-strong-grain-dormancy-of-wild-barley-hordeum-vulgare-ssp-spontaneum
#12
Shingo Nakamura, Mohammad Pourkheirandish, Hiromi Morishige, Mohammad Sameri, Kazuhiro Sato, Takao Komatsuda
Wild barley (Hordeum vulgare ssp. spontaneum) has strong grain dormancy, a trait that may enhance its survival in non-cultivated environments; by contrast, cultivated barley (Hordeum vulgare ssp. vulgare) has weaker dormancy, allowing uniform germination in cultivation. Malting barley cultivars have been bred for especially weak dormancy to optimize their use in malt production. Here, we analyzed the genetic mechanism of this difference in seed dormancy, using recombinant inbred lines (RILs) derived from a cross between the wild barley accession 'H602' and the malting barley cultivar 'Kanto Nakate Gold (KNG)'...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29163575/quantitative-resistance-to-plant-pathogens-in-pyramiding-strategies-for-durable-crop-protection
#13
REVIEW
Marie-Laure Pilet-Nayel, Benoît Moury, Valérie Caffier, Josselin Montarry, Marie-Claire Kerlan, Sylvain Fournet, Charles-Eric Durel, Régine Delourme
Quantitative resistance has gained interest in plant breeding for pathogen control in low-input cropping systems. Although quantitative resistance frequently has only a partial effect and is difficult to select, it is considered more durable than major resistance (R) genes. With the exponential development of molecular markers over the past 20 years, resistance QTL have been more accurately detected and better integrated into breeding strategies for resistant varieties with increased potential for durability...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29163366/clinical-genetic-and-protein-structural-aspects-of-familial-dysalbuminemic-hyperthyroxinemia-and-hypertriiodothyroninemia
#14
REVIEW
Ulrich Kragh-Hansen, Monica Galliano, Lorenzo Minchiotti
Familial dysalbuminemic hyperthyroxinemia (FDH-T4) and hypertriiodothyroninemia (FDH-T3) are dominantly inherited syndromes characterized by a high concentration of thyroid hormone in the blood stream. The syndromes do not cause disease, because the concentration of free hormone is normal, but affected individuals are at risk of erroneous treatment. FDH-T4 is the most common cause of euthyroid hyperthyroxinemia in Caucasian populations in which its prevalence is about 1 in 10,000 individuals, but the prevalence can be much higher in some ethnic groups...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29163336/two-novel-mutations-associated-with-ataxia-telangiectasia-identified-using-an-ion-ampliseq-inherited-disease-panel
#15
Maria V Kuznetsova, Dmitry Yu Trofimov, Ekaterina S Shubina, Taisiya O Kochetkova, Natalia A Karetnikova, Ilya Yu Barkov, Vladimir A Bakharev, Oleg A Gusev, Gennady T Sukhikh
Ataxia-telangiectasia (A-T), or Louis-Bar syndrome, is a rare neurodegenerative disorder associated with immunodeficiency. For families with at least one affected child, timely A-T genotyping during any subsequent pregnancy allows the parents to make an informed decision about whether to continue to term when the fetus is affected. Mutations in the ATM gene, which is 150 kb long, give rise to A-T; more than 600 pathogenic variants in ATM have been characterized since 1990 and new mutations continue to be discovered annually...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29163333/mutation-analysis-of-consanguineous-moroccan-patients-with-parkinson-s-disease-combining-microarray-and-gene-panel
#16
Ahmed Bouhouche, Christelle Tesson, Wafaa Regragui, Mounia Rahmani, Valérie Drouet, Houyam Tibar, Zouhayr Souirti, Rafiqua Ben El Haj, Naima Bouslam, Mohamed Yahyaoui, Alexis Brice, Ali Benomar, Suzanne Lesage
During the last two decades, 15 different genes have been reported to be responsible for the monogenic form of Parkinson's disease (PD), representing a worldwide frequency of 5-10%. Among them, 10 genes have been associated with autosomal recessive PD, with PRKN and PINK1 being the most frequent. In a cohort of 145 unrelated Moroccan PD patients enrolled since 2013, 19 patients were born from a consanguineous marriage, of which 15 were isolated cases and 4 familial. One patient was homozygous for the common LRRK2 G2019S mutation and the 18 others who did not carry this mutation were screened for exon rearrangements in the PRKN gene using Affymetrix Cytoscan HD microarray...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29163032/lipid-involvement-in-neurodegenerative-diseases-of-the-motor-system-insights-from-lysosomal-storage-diseases
#17
REVIEW
James C Dodge
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare inherited metabolic diseases that are frequently triggered by the accumulation of lipids inside organelles of the endosomal-autophagic-lysosomal system (EALS). There is now a growing realization that disrupted lysosomal homeostasis (i.e., lysosomal cacostasis) also contributes to more common neurodegenerative disorders such as Parkinson disease (PD). Lipid deposition within the EALS may also participate in the pathogenesis of some additional neurodegenerative diseases of the motor system...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29162896/%C3%AE-adrenergic-stimulation-augments-transmural-dispersion-of-repolarization-via-modulation-of-delayed-rectifier-currents-iks-and-ikr-in-the-human-ventricle
#18
C Kang, A Badiceanu, J A Brennan, C Gloschat, Y Qiao, N A Trayanova, I R Efimov
Long QT syndrome (LQTS) is an inherited or drug induced condition associated with delayed repolarization and sudden cardiac death. The cardiac potassium channel, IKr, and the adrenergic-sensitive cardiac potassium current, IKs, are two primary contributors to cardiac repolarization. This study aimed to elucidate the role of β-adrenergic (β-AR) stimulation in mediating the contributions of IKr and IKs to repolarizing the human left ventricle (n = 18). Optical mapping was used to measure action potential durations (APDs) in the presence of the IKs blocker JNJ-303 and the IKr blocker E-4031...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29162676/the-role-of-genetic-counseling-in-pompe-disease-after-patients-are-identified-through-newborn-screening
#19
Andrea M Atherton, Debra Day-Salvatore
An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with an affected child and all adults diagnosed with Pompe disease...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/29162500/the-emerging-role-of-immune-dysfunction-in-mitochondrial-diseases-as-a-paradigm-for-understanding-immunometabolism
#20
REVIEW
Senta M Kapnick, Susan E Pacheco, Peter J McGuire
Immunometabolism aims to define the role of intermediary metabolism in immune cell function, with bioenergetics and the mitochondria recently taking center stage. To date, the medical literature on mitochondria and immune function extols the virtues of mouse models in exploring this biologic intersection. While the laboratory mouse has become a standard for studying mammalian biology, this model comprises part of a comprehensive approach. Humans, with their broad array of inherited phenotypes, serve as a starting point for studying immunometabolism; specifically, patients with mitochondrial disease...
November 18, 2017: Metabolism: Clinical and Experimental
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