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https://www.readbyqxmd.com/read/28931159/isolation-and-molecular-characterization-of-the-transformer-gene-from-bactrocera-cucurbitae-diptera-tephritidae
#1
Ya Luo, Santao Zhao, Jiahui Li, Peizheng Li, Rihui Yan
transformer (tra) is a switch gene of sex determination in many insects, particularly in Dipterans. However, the sex determination pathway in Bactrocera cucurbitae (Coquillett), a very destructive pest on earth, remains largely uncharacterized. In this study, we have isolated and characterized one female-specific and two male-specific transcripts of the tra gene (Bcutra) of B. cucurbitae. The genomic structure of Bcutra has been determined and the presence of multiple conserved Transformer (TRA)/TRA-2 binding sites in Bcutra has been found...
January 1, 2017: Journal of Insect Science
https://www.readbyqxmd.com/read/28931070/atrazine-induced-epigenetic-transgenerational-inheritance-of-disease-lean-phenotype-and-sperm-epimutation-pathology-biomarkers
#2
Margaux McBirney, Stephanie E King, Michelle Pappalardo, Elizabeth Houser, Margaret Unkefer, Eric Nilsson, Ingrid Sadler-Riggleman, Daniel Beck, Paul Winchester, Michael K Skinner
Ancestral environmental exposures to a variety of environmental toxicants and other factors have been shown to promote the epigenetic transgenerational inheritance of adult onset disease. The current study examined the potential transgenerational actions of the herbicide atrazine. Atrazine is one of the most commonly used herbicides in the agricultural industry, in particular with corn and soy crops. Outbred gestating female rats were transiently exposed to a vehicle control or atrazine. The F1 generation offspring were bred to generate the F2 generation and then the F2 generation bred to generate the F3 generation...
2017: PloS One
https://www.readbyqxmd.com/read/28930842/type-4b-hereditary-hemochromatosis-associated-with-a-novel-mutation-in-the-slc40a1-gene-a-case-report-and-a-review-of-the-literature
#3
Wei Zhang, Tingxia Lv, Jian Huang, Xiaojuan Ou
RATIONALE: Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific region. Recently, non-HFE-related hemochromatosis has been reported in patients from the Asian countries. PATIENT CONCERNS: We report the case of a 48-year-old Chinese Han woman who presented with abnormal liver function, diabetes mellitus, hyperferritinemia, and high transferrin saturation, with severe iron overload in parenchymal cells, Kupffer cells, and periportal fibrosis on liver biopsy...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28930518/microperimetric-biofeedback-training-fundamentals-strategies-and-perspectives
#4
Enzo Maria Vingolo, Giuseppe Napolitano, Serena Fragiotta
Microperimetric biofeedback training (MBFT) is a visual rehabilitative strategy based on fixation stability improvement reinforcing or creating a new preferential fixation locus. The rationale consists in reeducating visual system to a new visual condition, promoting retina-brain transmission, and thus cortical plasticity. The use of MBFT found is major application in visual diseases involving central vision, but later it revealed promising functional outcomes even in myopia, inherited retinal degenerations and nystagmus...
January 1, 2018: Frontiers in Bioscience (Scholar Edition)
https://www.readbyqxmd.com/read/28929788/the-familial-and-the-familiar-locating-relatedness-in-colombian-donor-conception
#5
Malissa Kay Shaw
In this article, I explore how women undergoing in-vitro fertilization with familial or anonymous egg donors located relatedness with a donor-conceived child through familial and social identities. Recognizing gametes as substances that contain biological and sociocultural/behavioral traits, shaped women's narratives around interconnected notions of the familial and familiar, or the social understanding of biological and social inheritance, and knowledge of the genetic materials involved. Women's narratives of relatedness reflect their relationships with family and society and their desire to reproduce these relationships in their child(ren), a process that reproduces prevailing Colombian social values and notions of ideal citizens...
September 20, 2017: Medical Anthropology
https://www.readbyqxmd.com/read/28929227/genetic-predisposition-in-children-with-cancer-affected-families-acceptance-of-trio-wes
#6
Triantafyllia Brozou, Julia Taeubner, Eunike Velleuer, Martin Dugas, Dagmar Wieczorek, Arndt Borkhardt, Michaela Kuhlen
A considerable percentage of childhood cancers are due to cancer predisposition syndromes (CPS). The ratio of CPSs caused by inherited versus de novo germline mutations and the risk of recurrence in other children are unknown. We initiated a prospective study performing whole-exome sequencing (WES) of parent-child trios in children newly diagnosed with cancer. We initially aimed to determine the interest in and acceptance of trio WES among affected families and to systematically collect demographic, medical, and family history data to analyze whether these point to an underlying CPS...
September 19, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28928995/acute-unilateral-renal-infarction-in-the-setting-of-an-inherited-thrombophilia-and-atrial-septal-defect
#7
Siavash Piran, Sam Schulman
We present a case of renal infarction in a 43-year-old female with history of stroke at age 14. She was found to be heterozygous for the prothrombin G20210A gene mutation. Loop monitoring revealed no atrial fibrillation. Transthoracic and transesophageal echocardiograms showed no thrombus. However, there was a small shunt due to an atrial septal defect (ASD). She was treated with warfarin and had device closure of her ASD. This was a suspected case of paradoxical embolism through an ASD leading to renal infarction...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28928639/microglia-polarization-with-m1-m2-phenotype-changes-in-rd1-mouse-model-of-retinal-degeneration
#8
Tian Zhou, Zijing Huang, Xiaowei Sun, Xiaowei Zhu, Lingli Zhou, Mei Li, Bing Cheng, Xialin Liu, Chang He
Microglia activation is recognized as the hallmark of neuroinflammation. However, the activation profile and phenotype changes of microglia during the process of retinal degeneration are poorly understood. This study aimed to elucidate the time-spatial pattern of microglia distribution and characterize the polarized phenotype of activated microglia during retinal neuroinflammation and degeneration in rd1 (Pde6β(rd1/rd1)) mice, the classic model of inherited retinal degeneration. Retinae of rd1 mice at different postnatal days (P7, P14, P21, P28, P56, and P180) were prepared for further analysis...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28928611/brugada-syndrome-in-children-stepping-into-unchartered-territory
#9
REVIEW
Shashank P Behere, Steven N Weindling
Brugada syndrome (BrS) is an autosomal dominant inherited channelopathy. It is associated with a typical pattern of ST-segment elevation in the precordial leads V1-V3 and potentially lethal ventricular arrhythmias in otherwise healthy patients. It is frequently seen in young Asian males, in whom it has previously been described as sudden unexplained nocturnal death syndrome. Although it typically presents in young adults, it is also known to present in children and infants, especially in the presence of fever...
September 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28928274/the-ubiquitin-ligase-e3-psh1p-is-required-for-proper-segregation-of-both-centromeric-and-two-micron-plasmids-in-saccharomyces-cerevisiae
#10
Meredith B Metzger, Jessica L Scales, Mitchell F Dunklebarger, Allan M Weissman
Protein degradation by the ubiquitin-proteasome system is essential to many processes. We sought to assess its involvement in the turnover of mitochondrial proteins in Saccharomyces cerevisiae We find that deletion of a specific ubiquitin ligase (E3), Psh1p, increases the abundance of a temperature-sensitive mitochondrial protein, mia40-4pHA, when it is expressed from a centromeric plasmid. Deletion of Psh1p unexpectedly elevates the levels of other proteins expressed from centromeric plasmids. Loss of Psh1p does not increase the rate of turn-over of mia40-4pHA, affect total protein synthesis, or increase the protein levels of chromosomal genes...
September 19, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28927436/genomic-imprinting-beyond-dna-methylation-a-role-for-maternal-histones
#11
Courtney W Hanna, Gavin Kelsey
Inheritance of DNA methylation states from gametes determines genomic imprinting in mammals. A new study shows that repressive chromatin in oocytes can also confer imprinting.
September 19, 2017: Genome Biology
https://www.readbyqxmd.com/read/28927431/role-of-the-sigma-1-receptor-chaperone-in-rod-and-cone-photoreceptor-degenerations-in-a-mouse-model-of-retinitis-pigmentosa
#12
Huan Yang, Yingmei Fu, Xinying Liu, Pawan K Shahi, Timur A Mavlyutov, Jun Li, Annie Yao, Steven Z-W Guo, Bikash R Pattnaik, Lian-Wang Guo
BACKGROUND: Retinitis pigmentosa (RP) is the most common inherited retinal degenerative disease yet with no effective treatment available. The sigma-1 receptor (S1R), a ligand-regulated chaperone, emerges as a potential retina-protective therapeutic target. In particular, pharmacological activation of S1R was recently shown to rescue cones in the rd10 mouse, a rod Pde6b mutant that recapitulates the RP pathology of autonomous rod degeneration followed by secondary death of cones. The mechanisms underlying the S1R protection for cones are not understood in detail...
September 19, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28927429/the-impact-of-lipoprotein-lipase-deficiency-on-health-related-quality-of-life-a-detailed-structured-qualitative-study
#13
Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S Wierzbicki, Handrean Soran
BACKGROUND: Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaemia, severe hypertriglyceridaemia and an increased risk of recurrent pancreatitis that often requires hospitalisation. This research aimed to improve our understanding of the debilitating impact that LPLD has on the daily lives of patients and their families. METHODS: The research comprised a 2-h interview with the patient and, where possible, a 1-h interview with a family member; a 1-week pre- and post-interview task (written and/or video diary); and a 30-45-min follow-up telephone interview...
September 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28927256/comparison-of-as-pcr-crs-pcr-and-pcr-pira-methods-used-for-screening-cvm-carriers-in-holstein-cattle
#14
Kozet Avanus, Ahmet Altinel
Complex vertebral malformation (CVM) is an inherited and autosomal recessive disorder of Holstein cattle. The aim of this study was comparing sensitivity, specificity, positive and negative predictive values, accuracy and rapidity of three methods; allele specific PCR (AS-PCR), created restriction site PCR (CRS-PCR) and PCR with primer introduced restriction analysis (PCR-PIRA) that were used in identification of CVM carriers in Holstein cattle population. In order to screen G>T mutation in solute carrier family 35 member A3 (SLC35A3) gene DNA sequencing was used as gold standard method...
September 20, 2017: Journal of Veterinary Science
https://www.readbyqxmd.com/read/28927238/factor-v-leiden-is-associated-with-increased-sperm-count
#15
T E van Mens, U N Joensen, Z Bochdanovits, A Takizawa, J Peter, N Jørgensen, P B Szecsi, J C M Meijers, H Weiler, E Rajpert-De Meyts, S Repping, S Middeldorp
STUDY QUESTION: Is the thrombophilia mutation factor V Leiden (FVL) associated with an increased total sperm count? SUMMARY ANSWER: Carriers of FVL have a higher total sperm count than non-FVL-carriers, which could not be explained by genetic linkage or by observations in a FVL-mouse model. WHAT IS KNOWN ALREADY: FVL has a high prevalence in Caucasians despite detrimental health effects. Carriers have been shown to have higher fecundity, which might partly explain this evolutionary paradox...
September 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28926986/efficacy-of-octocog-alfa-advate-in-a-child-with-type-3-von-willebrand-disease-and-alloantibodies
#16
Gianluca Sottilotta, Francesca Luise, Elisabetta Massara, Vincenzo Oriana, Angela Piromalli
Von Willebrand disease (VWD) is the most frequent inherited bleeding disorder and is caused by either a quantitative and/or qualitative defect of the multimeric glycoprotein vonWillebrand factor (VWF).[...].
September 18, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28926971/mini-review-the-contribution-of-intermediate-phenotypes-to-gxe-effects-on-disorders-of-body-composition-in-the-new-omics-era
#17
REVIEW
Edna J Nava-Gonzalez, Esther C Gallegos-Cabriales, Irene Leal-Berumen, Raul A Bastarrachea
Studies of gene-environment (GxE) interactions describe how genetic and environmental factors influence the risk of developing disease. Intermediate (molecular or clinical) phenotypes (IPs) are traits or metabolic biomarkers that mediate the effects of gene-environment influences on risk behaviors. Functional systems genomics discovery offers mechanistic insights into how DNA variations affect IPs in order to detect genetic causality for a given disease. Disorders of body composition include obesity (OB), Type 2 diabetes (T2D), and osteoporosis (OSTP)...
September 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28926781/a-leukomyeloencephalopathy-of-unknown-origin-in-an-azawakh-dog
#18
Maria Teresa Mandara, Alice Reginato, Federica Balducci, Marco Bernardini
A diffuse bilaterally symmetrical leukomyeloencephalopathy was observed in a 6-year-old male Azawakh dog showing a slowly progressive ataxia of six months duration associated with sensory disorders. Severe bilaterally symmetrical demyelination and vacuolisation were confined to the dorsal columns along the entire spinal cord with a minor axonal degeneration. The main changes of myelin sheaths consisted in splitting and intramyelin vacuolization. Naked axons were scattered in a network of astrocytic processes and collagen fibres...
September 5, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#19
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28926220/facile-construction-of-novel-3-dimensional-graphene-amorphous-porous-carbon-hybrids-with-enhanced-lithium-storage-properties
#20
Daming Zhu, Huaqiu Liu, Lixuan Tai, Xiaonan Zhang, Sheng Jiang, Shumin Yang, Lin Yi, Wen Wen, Xiaolong Li
Nowadays, porous materials become essential to many technological applications. In this account, 3-dimensional skeleton composite materials consisted of a core-shell amorphous porous carbon/multi-layer graphene are synthesized by chemical vapor deposition on Ni foam using a facile one-step growth method. The data suggest that these composites have not only outstanding electrical and mechanical properties of the multi-layer graphene but also the mesoporous characteristics of the amorphous carbon. Moreover, the composited carbon materials perfectly inherit the macroporous structure of Ni foam, and the amorphous carbon core in the skeleton serves as a cushion to buffer the volume variation after the removal of Ni...
September 19, 2017: ACS Applied Materials & Interfaces
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