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https://www.readbyqxmd.com/read/29782524/leucocytes-telomere-length-and-breast-cancer-risk-susceptibility-a-case-control-study
#1
Sofia Pavanello, Liliana Varesco, Viviana Gismondi, Paolo Bruzzi, Claudia Bolognesi
BACKGROUND: Telomere length in peripheral blood leukocytes (PBL-TL) was proposed as a biomarker of cancer risk. Recent scientific evidence suggested PBL-TL plays a diverse role in different cancers. Inconsistent results were obtained on PBL-TL in relation to breast cancer risk and specifically to the presence of BRCA1 and BRCA2 mutations. The aim of the present case-control study was to analyse the correlation between family history of breast cancer or presence of a BRCA mutation and PBL-TL in the hypothesis that TL is a modifier of cancer risk...
2018: PloS One
https://www.readbyqxmd.com/read/29781975/novel-best1-mutations-detected-by-next-generation-sequencing-in-a-chinese-population-with-vitelliform-macular-dystrophy
#2
Jingli Guo, Fengjuan Gao, Wenyi Tang, Yuhe Qi, Yi Xuan, Wei Liu, Lei Li, Xiaofeng Ye, Gezhi Xu, Jihong Wu, Yongjin Zhang
PURPOSE: To characterize novel BEST1 mutations and the phenotype-genotype correlations in vitelliform macular dystrophy in a Chinese population. METHODS: Seventeen individuals affected by vitelliform macular dystrophy underwent detailed ophthalmic examinations, including a best-corrected visual acuity test, slit-lamp biomicroscopy, fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence, fluorescein angiography, and optical coherence tomography angiography...
May 16, 2018: Retina
https://www.readbyqxmd.com/read/29781741/slowly-progressive-retinitis-pigmentosa-caused-by-two-novel-mutations-in-the-mak-gene
#3
Joanna Monika Gray, Harry Otway Orlans, Morag Shanks, Penny Clouston, Robert Elvis MacLaren
BACKGROUND: The growing number of clinical trials currently underway for inherited retinal diseases has highlighted the importance of achieving a molecular diagnosis for all new cases presenting to hospital eye services. The male germ cell-associated kinase (MAK) gene encodes a cilium-associated protein selectively expressed in the retina and testis, and has recently been implicated in autosomal recessive retinitis pigmentosa (RP). Whole exome sequencing has previously identified a homozygous Alu insertion in probands with recessive RP and nonsense and missense mutations have also been reported...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#4
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29781334/surgical-treatment-of-dystonia
#5
Rubens G Cury, Suneil K Kalia, Binit B Shah, Joohi Jimenez-Shahed, L K Prashanth, Elena Moro
Treatment of dystonia should be individualized and tailored to the specific needs of patients. Surgical treatment is an important option in medically refractory cases. Several issues regarding type of the surgical intervention, targets, and predict factors of benefit are still under debate. Areas covered: To date, several clinical trials have proven the benefit and safety of deep brain stimulation (DBS) for inherited and idiopathic isolated dystonia, whereas there is still insufficient evidence in combined and acquired dystonia...
May 21, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29780904/benign-yellow-dot-maculopathy
#6
Elad Moisseiev
Purpose: To describe a new family with benign yellow dot maculopathy. Observations: A young male patient was found to have bilateral multiple small yellow dots in both maculae. Visual acuity and color vision were normal, and no pathological findings were demonstrated on automated visual field, optical coherence tomography (OCT) and electrophysiological testing. Examination of his parents revealed similar findings in his mother, suggesting autosomal dominant inheritance...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29780408/an-intelligent-grey-wolf-optimizer-algorithm-for-distributed-compressed-sensing
#7
Haiqiang Liu, Gang Hua, Hongsheng Yin, Yonggang Xu
Distributed Compressed Sensing (DCS) is an important research area of compressed sensing (CS). This paper aims at solving the Distributed Compressed Sensing (DCS) problem based on mixed support model. In solving this problem, the previous proposed greedy pursuit algorithms easily fall into suboptimal solutions. In this paper, an intelligent grey wolf optimizer (GWO) algorithm called DCS-GWO is proposed by combining GWO and q -thresholding algorithm. In DCS-GWO, the grey wolves' positions are initialized by using the q -thresholding algorithm and updated by using the idea of GWO...
2018: Computational Intelligence and Neuroscience
https://www.readbyqxmd.com/read/29779598/metabolic-myopathies-and-the-respiratory-system
#8
REVIEW
Patrick Koo, Jigme M Sethi
Metabolic myopathies are a heterogeneous group of disorders characterized by inherited defects of enzymatic pathways involved in muscle cellular energetics and adenosine triphosphate synthesis. Skeletal and respiratory muscles are most affected. There are multiple mechanisms of disease. The age of onset and prognosis vary. Metabolic myopathies cause exercise intolerance, myalgia, and increase in muscle breakdown products during exercise. Some affect smooth muscle like the diaphragm and cause respiratory failure...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29779502/multi-locus-phylogenetics-of-the-midichloria-endosymbionts-reveals-variable-specificity-of-association-with-ticks
#9
M Buysse, O Duron
Candidatus Midichloria mitochondrii is a maternally inherited bacterium of ticks with a unique intra-mitochondrial lifestyle. Here, we investigate on the evolutionary history of these associations and the degree of Midichloria-tick specificity. While previous surveys used the 16S rRNA gene as an exclusive molecular marker, we rather developed a multi-locus typing method based on four more variable housekeeping genes (groEL, rpoB, dnaK and ftsZ) and on one flagellum gene (fliC) present in Midichloria genomes...
May 21, 2018: Parasitology
https://www.readbyqxmd.com/read/29779243/co-occurrence-of-schwannomatosis-and-rhabdoid-tumor-predisposition-syndrome-1
#10
Hildegard Kehrer-Sawatzki, Uwe Kordes, Simone Seiffert, Anna Summerer, Christian Hagel, Ulrich Schüller, Said Farschtschi, Reinhard Schneppenheim, Martin Bendszus, Tim Godel, Victor-Felix Mautner
BACKGROUND: The clinical phenotype associated with germline SMARCB1 mutations has as yet not been fully documented. It is known that germline SMARCB1 mutations may cause rhabdoid tumor predisposition syndrome (RTPS1) or schwannomatosis. However, the co-occurrence of rhabdoid tumor and schwannomas in the same patient has not so far been reported. METHODS: We investigated a family with members harboring a germline SMARCB1 deletion by means of whole-body MRI as well as high-resolution microstructural magnetic resonance neurography (MRN)...
May 20, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29779206/old-new-and-emerging-immunohistochemical-markers-in-pheochromocytoma-and-paraganglioma
#11
REVIEW
Veronica K Y Cheung, Anthony J Gill, Angela Chou
The evolution of genetic research over the past two decades has greatly improved the understanding of pheochromocytomas and paragangliomas. It is now accepted that more than one third of pheochromocytoma and paragangliomas arise in the context of syndromic disease, usually hereditary. The genetic profile of these tumors also has important prognostic implications which may help guide treatment. Accompanying the changing molecular landscape is the development of new immunohistochemical markers. Initially used in assisting with diagnosis, immunohistochemical markers have now become an important adjunct to screening programs for inherited conditions and subsequently as prognostic markers...
May 19, 2018: Endocrine Pathology
https://www.readbyqxmd.com/read/29779151/genetic-portrait-and-phylogenetic-analysis-of-an-aksu-uyghur-population-based-on-the-19-x-str-system
#12
Ye Li, Jihong Zeng, Yujiang Fan, Guanglin He, Mingkun Xie, Tianzhen Gao, Shouyu Wang, Jin Wu
The X chromosome has a special mode of inheritance, and is thus a rich resource for population studies. In this study, the allele frequencies and forensic statistics of the 19 X chromosomal short tandem repeat loci were evaluated in 500 Uyghur individuals from Aksu Prefecture in northwest China. We further aimed to study whether the Uyghur populations located in various regions of Xinjiang share similar allele and haplotype frequency distributions, as they have experienced genetic exchanges. Population comparisons, PCA and MDS were performed for the Uyghurs and 27 populations and the results indicate that the Uyghur minority in Aksu has a relatively close phylogenetic relationship with East Asians, especially the Kazakh minority...
May 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29779094/-cell-grafting-a-new-approach-for-transferring-cytoplasmic-or-nuclear-genome-between-plants
#13
Vladimir Sidorov, Charles Armstrong, Thomas Ream, Xudong Ye, Annie Saltarikos
A new method based on mixing and wounding of callus tissue was used to transfer plastid or nuclear DNA between cells. Methods alternative to sexual hybridization can be powerful tools for crop improvement. We have developed a new hybridization technology based on wounding a mixed population of cells of two parents growing in vitro as callus ("cell grafting"), and have demonstrated the utility of this system for plastid or nuclear genome transfer. In our proof-of concept experiments, non-organized growing tissue (callus) from tobacco var...
May 19, 2018: Plant Cell Reports
https://www.readbyqxmd.com/read/29778777/modeling-the-dynamics-of-recognition-memory-testing-with-an-integrated-model-of-retrieval-and-decision-making
#14
Adam F Osth, Anna Jansson, Simon Dennis, Andrew Heathcote
A robust finding in recognition memory is that performance declines monotonically across test trials. Despite the prevalence of this decline, there is a lack of consensus on the mechanism responsible. Three hypotheses have been put forward: (1) interference is caused by learning of test items (2) the test items cause a shift in the context representation used to cue memory and (3) participants change their speed-accuracy thresholds through the course of testing. We implemented all three possibilities in a combined model of recognition memory and decision making, which inherits the memory retrieval elements of the Osth and Dennis (2015) model and uses the diffusion decision model (DDM: Ratcliff, 1978) to generate choice and response times...
May 17, 2018: Cognitive Psychology
https://www.readbyqxmd.com/read/29778713/concluding-commentary-on-current-trends-to-enhance-the-clinical-safety-of-pediatric-transfusion-focusing-on-prevention-of-untoward-complications-of-hsc-transplantation-newer-strategies-for-improving-the-standards-of-safety-quality-of-stem-cells-expansion-for
#15
REVIEW
Irena Sniecinski, Jerard Seghatchian
Clinical practice and related diagnostic, development and research [DDR] strategies in pediatric transfusion and transplantation cover a broad range of multidisciplinary studies, performed by many professionals involved in this most challenging clinical field [1]. This commentary on the current position and future perspectives in pediatric transfusion field is aimed to highlight major unresolved transfusion complications in pediatric patients, namely red blood cell and platelet alloimmunisation, and new ones such as nosocomial infection, thrombosis and multi-organ failure...
May 16, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29778643/inheritance-of-co-edited-genes-by-crispr-based-targeted-nucleotide-substitutions-in-rice
#16
Zenpei Shimatani, Ushio Fujikura, Hisaki Ishii, Yusuke Matsui, Minoru Suzuki, Yuki Ueke, Ken-Ichiro Taoka, Rie Terada, Keiji Nishida, Akihiko Kondo
The CRISPR/Cas9 system is a revolutionary genome-editing tool for directed gene editing in various organisms. Cas9 variants can be applied as molecular homing devices when combined with various functional effectors such as transcriptional activators or DNA modification enzymes. Target-AID is a synthetic complex of nuclease deficient Cas9 fused to an activation-induced cytidine deaminase (AID) that enables targeted nucleotide substitution (C to T or G to A). We previously demonstrated that the introduction of desired point mutations into target genes by Target-AID confers herbicide tolerance to rice callus...
April 25, 2018: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/29778627/impaired-spatial-processing-in-a-mouse-model-of-fragile-x-syndrome
#17
Mohamed Ghilan, Luis Bettio, Athena Noonan, Patricia S Brocardo, Joana Gil-Mohapel, Brian R Christie
Fragile X syndrome (FXS) is the most common form of inherited intellectual impairment. The Fmr1-/y mouse model has been previously shown to have deficits in context discrimination tasks but not in the elevated plus-maze. To further characterize this FXS mouse model and determine whether hippocampal-mediated behaviours are affected in these mice, dentate gyrus (DG)-dependent spatial processing and Cornu Ammonis 1 (CA1)-dependent temporal order discrimination tasks were evaluated. In agreement with previous findings of long-term potentiation deficits in the DG of this transgenic model of FXS, the results reported here demonstrate that Fmr1-/y mice perform poorly in the DG-dependent metric change spatial processing task...
May 17, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29778426/germline-cytoskeletal-and-extra-cellular-matrix-related-single-nucleotide-variations-associated-with-distinct-cancer-survival-rates
#18
Shayan Falasiri, Tasnif Rahman, Yaping N Tu, Timothy J Fawcett, George Blanck
BACKGROUND: Human mutagenesis has a large stochastic component. Thus, large coding regions, especially cytoskeletal and extra-cellular matrix protein (CECMP) coding regions are particularly vulnerable to mutations. Recent results have verified a high level of somatic mutations in the CECMP coding regions in the cancer genome atlas (TCGA), and a relatively common occurrence of germline, deleterious mutations in the TCGA breast cancer dataset. METHODS: The objective of this study was to determine the correlations of CECMP coding region, germline nucleotide variations with both overall survival (OS) and disease-free survival (DFS)...
May 17, 2018: Gene
https://www.readbyqxmd.com/read/29778030/retrospective-genotype-phenotype-analysis-in-a-305-patient-cohort-referred-for-testing-of-a-targeted-epilepsy-panel
#19
Andrew N Hesse, Jennifer Bevilacqua, Kritika Shankar, Honey V Reddi
PURPOSE: Epilepsy is a diverse neurological condition with extreme genetic and phenotypic heterogeneity. The introduction of next-generation sequencing into the clinical laboratory has made it possible to investigate hundreds of associated genes simultaneously for a patient, even in the absence of a clearly defined syndrome. This has resulted in the detection of rare and novel mutations at a rate well beyond our ability to characterize their effects. This retrospective study reviews genotype data in the context of available phenotypic information on 305 patients spanning the epileptic spectrum to identify established and novel patterns of correlation...
May 16, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29777911/deficiency-in-gnrh-receptor-trafficking-due-to-a-novel-homozygous-mutation-causes-idiopathic-hypogonadotropic-hypogonadism-in-three-prepubertal-siblings
#20
Rui Zhang, Siyuan Linpeng, Zhuo Li, Yingxi Cao, Hu Tan, Desheng Liang, Lingqian Wu
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients are diagnosed in late adolescence or early adulthood. Determining the diagnosis of IHH in prepubertal patients can be challenging. Making a timely, correct diagnosis has important clinical implications. Here we aimed to identify the genetic cause of IHH in three prepubertal siblings from a Chinese Han family and give appropriate treatment advice. Using whole exome sequencing (WES), we identified a novel homozygous GNRHR mutation (NM_000406; c...
May 16, 2018: Gene
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