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https://www.readbyqxmd.com/read/29779243/co-occurrence-of-schwannomatosis-and-rhabdoid-tumor-predisposition-syndrome-1
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/29777226/genetic-contribution-to-waist-to-hip-ratio-in-mexican-children-and-adolescents-based-on-12-loci-validated-in-european-adults
#12
Michelle Turcotte, Arkan Abadi, Jesus Peralta-Romero, Fernando Suarez, Hudson Reddon, Jaime Gomez-Zamudio, Ana I Burguete-Garcia, Miguel Cruz, David Meyre
BACKGROUND/OBJECTIVES: The prevalence of abdominal obesity in Mexican children has risen dramatically in the past decade. Genome-wide association studies (GWAS) for waist-to-hip ratio (WHR) performed predominantly in European descent adult  populations have identified multiple single-nucleotide polymorphisms (SNPs) with larger effects in women. The contribution of these SNPs to WHR in non-European children is unknown. SUBJECTS/METHODS: Mexican children and adolescents (N = 1421, 5-17 years) were recruited in Mexico City...
March 13, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29777207/clinical-progression-and-metachronous-paragangliomas-in-a-large-cohort-of-sdhd-germline-variant-carriers
#13
Berdine L Heesterman, Lisa M H de Pont, Andel Gl van der Mey, Jean-Pierre Bayley, Eleonora Pm Corssmit, Frederik J Hes, Berit M Verbist, Peter Paul G van Benthem, Jeroen C Jansen
Although it is well established that paternally transmitted germline variants in SDHD are associated with multifocal paragangliomas and lifelong follow-up is generally advised, the risk of metachronous lesions is presently unknown. In a large Dutch cohort of SDHD variant carriers, we studied the development of new paragangliomas, and the evolution of symptoms and cranial nerve impairment. Recurrent event analysis and the Kaplan-Meier product limit estimator were used to study the risk of new lesions. The relation between several predictors and development of new symptoms was assessed using logistic regression...
May 18, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29777105/phenotypic-diversification-by-enhanced-genome-restructuring-after-induction-of-multiple-dna-double-strand-breaks
#14
Nobuhiko Muramoto, Arisa Oda, Hidenori Tanaka, Takahiro Nakamura, Kazuto Kugou, Kazuki Suda, Aki Kobayashi, Shiori Yoneda, Akinori Ikeuchi, Hiroki Sugimoto, Satoshi Kondo, Chikara Ohto, Takehiko Shibata, Norihiro Mitsukawa, Kunihiro Ohta
DNA double-strand break (DSB)-mediated genome rearrangements are assumed to provide diverse raw genetic materials enabling accelerated adaptive evolution; however, it remains unclear about the consequences of massive simultaneous DSB formation in cells and their resulting phenotypic impact. Here, we establish an artificial genome-restructuring technology by conditionally introducing multiple genomic DSBs in vivo using a temperature-dependent endonuclease TaqI. Application in yeast and Arabidopsis thaliana generates strains with phenotypes, including improved ethanol production from xylose at higher temperature and increased plant biomass, that are stably inherited to offspring after multiple passages...
May 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29776397/the-conserved-p-arg108-residue-in-s1pr2-dfnb68-is-fundamental-for-proper-hearing-evidence-from-a-consanguineous-iranian-family
#15
Michaela A H Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf, Barbara Vona
BACKGROUND: Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked to autosomal recessive hearing loss (DFNB68) in two Pakistani families. We describe a segregating novel homozygous c.323G>A, p.Arg108Gln pathogenic variant in S1PR2 that was identified in four affected individuals from a consanguineous five generation Iranian family...
May 18, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29776335/using-genomic-relationship-likelihood-for-parentage-assignment
#16
Kim E Grashei, Jørgen Ødegård, Theo H E Meuwissen
BACKGROUND: Parentage assignment is usually based on a limited number of unlinked, independent genomic markers (microsatellites, low-density single nucleotide polymorphisms (SNPs), etc.). Classical methods for parentage assignment are exclusion-based (i.e. based on loci that violate Mendelian inheritance) or likelihood-based, assuming independent inheritance of loci. For true parent-offspring relations, genotyping errors cause apparent violations of Mendelian inheritance. Thus, the maximum proportion of such violations must be determined, which is complicated by variable call- and genotype error rates among loci and individuals...
May 18, 2018: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/29775652/advances-and-prospects-of-bacillus-subtilis-cellular-factories-from-rational-design-to-industrial-applications
#17
REVIEW
Yang Gu, Xianhao Xu, Yaokang Wu, Tengfei Niu, Yanfeng Liu, Jianghua Li, Guocheng Du, Long Liu
Bacillus subtilis is the most characterized gram-positive bacterium that has significant attributes, such as growing well on cheap carbon sources, possessing clear inherited backgrounds, having mature genetic manipulation methods, and exhibiting robustness in large-scale fermentations. Till date, B. subtilis has been identified as attractive hosts for the production of recombinant proteins and chemicals. By applying various systems and synthetic biology tools, the productivity features of B. subtilis can be thoroughly analyzed and further optimized via metabolic engineering...
May 15, 2018: Metabolic Engineering
https://www.readbyqxmd.com/read/29775580/znfx-1-functions-within-perinuclear-nuage-to-balance-epigenetic-signals
#18
Takao Ishidate, Ahmet R Ozturk, Daniel J Durning, Rita Sharma, En-Zhi Shen, Hao Chen, Meetu Seth, Masaki Shirayama, Craig C Mello
Animal cells have a remarkable capacity to adopt durable and heritable gene expression programs or epigenetic states that define the physical properties and diversity of somatic cell types. The maintenance of epigenetic programs depends on poorly understood pathways that prevent gain or loss of inherited signals. In the germline, epigenetic factors are enriched in liquid-like perinuclear condensates called nuage. Here, we identify the deeply conserved helicase-domain protein, ZNFX-1, as an epigenetic regulator and component of nuage that interacts with Argonaute systems to balance epigenetic inheritance...
May 17, 2018: Molecular Cell
https://www.readbyqxmd.com/read/29775273/the-role-of-clpp-protease-in-bacterial-pathogenesis-and-human-diseases
#19
Vaibhav Bhandari, Keith S Wong, Jin Lin Zhou, Mark F Mabanglo, Robert A Batey, Walid A Houry
In prokaryotic cells and eukaryotic organelles, the ClpP protease plays an important role in proteostasis. The disruption of ClpP function has been shown to influence the infectivity and virulence of a number of bacterial pathogens. More recently, ClpP has been found to be involved in various forms of carcinomas and in Perrault syndrome, which is an inherited condition characterized by hearing loss in males and females and by ovarian abnormalities in females. Hence, targeting ClpP is a potentially viable, attractive option for the treatment of different ailments...
May 18, 2018: ACS Chemical Biology
https://www.readbyqxmd.com/read/29774869/genetic-epidemiology-and-risk-factors-for-brain-tumors
#20
Xuejun Li, Hang Cao, Yanhong Liu
This report summarized current knowledge and findings relevant to environmental and genetic risk factors in brain tumors, with a particular focus on glioma. To date, the established risk factors for brain tumors are family history and ionizing radiation exposure; whereas there is an inverse association between tumors and other factors such as history of allergies, atopic conditions, chickenpox, and varicella zoster virus infection. To identify inherited genetic variants impacting susceptibility of brain tumors, large scale familial linkage-scan pedigree analysis, population-based candidate genes, and genome-wide association study were performed...
April 28, 2018: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
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