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https://www.readbyqxmd.com/read/28107566/recent-advances-in-understanding-clonal-haematopoiesis-in-aplastic-anaemia
#1
REVIEW
Natasha Stanley, Timothy S Olson, Daria V Babushok
Acquired aplastic anaemia (AA) is an immune-mediated bone marrow failure disorder inextricably linked to clonal haematopoiesis. The majority of AA patients have somatic mutations and/or structural chromosomal abnormalities detected as early as at diagnosis. In contrast to other conditions linked to clonal haematopoiesis, the clonal signature of AA reflects its immune pathophysiology. The most common alterations are clonal expansions of cells lacking glycophosphotidylinositol-anchored proteins, loss of human leucocyte antigen alleles, and mutations in BCOR/BCORL1, ASXL1 and DNMT3A...
January 20, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28107443/identification-of-the-pla2g6-c-1579g-a-missense-mutation-in-papillon-dog-neuroaxonal-dystrophy-using-whole-exome-sequencing-analysis
#2
Masaya Tsuboi, Manabu Watanabe, Kazumi Nibe, Natsuko Yoshimi, Akihisa Kato, Masahiro Sakaguchi, Osamu Yamato, Miyuu Tanaka, Mitsuru Kuwamura, Kazuya Kushida, Takashi Ishikura, Tomoyuki Harada, James Kenn Chambers, Sumio Sugano, Kazuyuki Uchida, Hiroyuki Nakayama
Whole exome sequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to canine genome research. We conducted WES analysis of neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is histopathologically characterized by severe axonal swelling, known as "spheroids," throughout the nervous system. By sequencing all eleven DNA samples from one NAD-affected Papillon dog and her parents, two unrelated NAD-affected Papillon dogs, and six unaffected control Papillon dogs, we identified 10 candidate mutations...
2017: PloS One
https://www.readbyqxmd.com/read/28107248/how-mice-are-indispensable-for-understanding-obesity-and-diabetes-genetics
#3
Alan D Attie, Gary A Churchill, Joseph H Nadeau
PURPOSE OF REVIEW: The task of cataloging human genetic variation and its relation to disease is rapidly approaching completion. The new challenge is to discover the function of disease-associated genes and to understand the pathways that lead to human disease. We propose that achieving this new level of understanding will increasingly rely on the use of model organisms. We discuss the advantages of the mouse as a model organism. RECENT FINDINGS: The collection of available mouse strains represents as much genetic and phenotype variation as is found in the human population...
January 19, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28107058/rapid-changes-in-the-sex-linkage-of-male-coloration-in-introduced-guppy-populations
#4
Swanne P Gordon, Andrés López-Sepulcre, Diana Rumbo, David N Reznick
Theory predicts that the sex linkage of sexually selected traits can influence the direction and rate of evolution and should itself evolve in response to sex-specific selection. Some studies have found intraspecific differences in sex linkage associated with differences in selection pressures, but we know nothing about how fast these differences can evolve. Here we show that introduced guppy populations showing rapid evolution of male coloration also show rapid changes in sex-linkage patterns. A comparison, using hormonal manipulations in females, of introduced populations of different ages suggests a consistent increase of autosomal or X-linked coloration 2 years after introduction from high- to low-predation environments...
February 2017: American Naturalist
https://www.readbyqxmd.com/read/28106827/neuroprotective-strategy-in-retinal-degeneration-suppressing-er-stress-induced-cell-death-via-inhibition-of-the-mtor-signal
#5
REVIEW
Bin Fan, Ying-Jian Sun, Shu-Yan Liu, Lin Che, Guang-Yu Li
The retina is a specialized sensory organ, which is essential for light detection and visual formation in the human eye. Inherited retinal degenerations are a heterogeneous group of eye diseases that can eventually cause permanent vision loss. UPR (unfolded protein response) and ER (endoplasmic reticulum) stress plays an important role in the pathological mechanism of retinal degenerative diseases. mTOR (the mammalian target of rapamycin) kinase, as a signaling hub, controls many cellular processes, covering protein synthesis, RNA translation, ER stress, and apoptosis...
January 19, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28106826/colorectal-carcinoma-a-general-overview-and-future-perspectives-in-colorectal-cancer
#6
REVIEW
Inés Mármol, Cristina Sánchez-de-Diego, Alberto Pradilla Dieste, Elena Cerrada, María Jesús Rodriguez Yoldi
Colorectal cancer (CRC) is the third most common cancer and the fourth most common cause of cancer-related death. Most cases of CRC are detected in Western countries, with its incidence increasing year by year. The probability of suffering from colorectal cancer is about 4%-5% and the risk for developing CRC is associated with personal features or habits such as age, chronic disease history and lifestyle. In this context, the gut microbiota has a relevant role, and dysbiosis situations can induce colonic carcinogenesis through a chronic inflammation mechanism...
January 19, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28106378/cell-selective-apoptosis-induced-by-polymorphic-alteration-of-self-assembled-silica-nano-webs
#7
Meysam Keshavarz, Bo Tan, Krishnan Venkatakrishnan
The biocompatibility of silicon-based nanomaterial makes it suitable for biophysical and biomedical applications. However, the application of silicon-based nanomaterials has been mainly restricted to nanoparticles (NPs) as a potential drug carrier and the extracellular matrix (ECM) as a platform for cell adhesion and proliferation. Here, we introduced silica NPs self-assembled into a 3D nano-web architecture that was shown to inherit the therapeutic and proliferative attributes of both NPs and ECMs. The self-assembled silica nano-web (SNW) has, therefore, not only shown targeted drug-like behavior in HeLa cells without the use of bio-markers but also has shown ECM characteristics...
January 20, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28106309/transposable-elements-tes-contribute-to-stress-related-long-intergenic-noncoding-rnas-in-plants
#8
Dong Wang, Zhipeng Qu, Lan Yang, Qingzhu Zhang, Zhi-Hong Liu, Trung Do, David L Adelson, Zhen-Yu Wang, Iain Searle, Jian-Kang Zhu
Noncoding RNAs have been extensively described in plant and animal transcriptomes by using high-throughput sequencing technology. Of these non-coding RNAs, a growing number of long intergenic noncoding RNAs (lincRNAs) have been described in multicellular organisms, however the origins and functions of many lincRNAs remain to be explored. In many eukaryotic genomes, transposable elements (TEs) are widely distributed and often account for large fractions of plant and animal genomes yet the contribution of TEs to lincRNAs is largely unknown...
January 20, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28106113/genetic-risk-variants-for-metabolic-traits-in-arab-populations
#9
Prashantha Hebbar, Naser Elkum, Fadi Alkayal, Sumi Elsa John, Thangavel Alphonse Thanaraj, Osama Alsmadi
Despite a high prevalence of metabolic trait related diseases in Arabian Peninsula, there is a lack of convincingly identified genetic determinants for metabolic traits in this population. Arab populations are underrepresented in global genome-wide association studies. We genotyped 1965 unrelated Arab individuals from Kuwait using Cardio-MetaboChip, and tested SNP associations with 13 metabolic traits. Models based on recessive mode of inheritance identified Chr15:40531386-rs12440118/ZNF106/W->R as a risk variant associated with glycated-hemoglobin at close to 'genome-wide significant' p-value and five other risk variants 'nominally' associated (p-value ≤ 5...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28106087/dynamical-states-possibilities-and-propagation-of-stress-signal
#10
Md Zubbair Malik, Shahnawaz Ali, Soibam Shyamchand Singh, Romana Ishrat, R K Brojen Singh
The stress driven dynamics of Notch-Wnt-p53 cross-talk is subjected to a few possible dynamical states governed by simple fractal rules, and allowed to decide its own fate by choosing one of these states which are contributed from long range correlation with varied fluctuations due to active molecular interaction. The topological properties of the networks corresponding to these dynamical states have hierarchical features with assortive structure. The stress signal driven by nutlin and modulated by mediator GSK3 acts as anti-apoptotic signal in this system, whereas, the stress signal driven by Axin and modulated by GSK3 behaves as anti-apoptotic for a certain range of Axin and GSK3 interaction, and beyond which the signal acts as favor-apoptotic signal...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28105956/vrn1-genes-variability-in-tetraploid-wheat-species-with-a-spring-growth-habit
#11
Irina Konopatskaia, Valeriya Vavilova, Elena Ya Kondratenko, Alexandr Blinov, Nikolay P Goncharov
BACKGROUND: Vernalization genes VRN1 play a major role in the transition from vegetative to reproductive growth in wheat. In di-, tetra- and hexaploid wheats the presence of a dominant allele of at least one VRN1 gene homologue (Vrn-A1, Vrn-B1, Vrn-G1 or Vrn-D1) determines the spring growth habit. Allelic variation between the Vrn-1 and vrn-1 alleles relies on mutations in the promoter region or the first intron. The origin and variability of the dominant VRN1 alleles, determining the spring growth habit in tetraploid wheat species have been poorly studied...
November 16, 2016: BMC Plant Biology
https://www.readbyqxmd.com/read/28105929/a-compendium-of-human-genes-regulating-feeding-behavior-and-body-weight-its-functional-characterization-and-identification-of-gwas-genes-involved-in-brain-specific-ppi-network
#12
Elena V Ignatieva, Dmitry A Afonnikov, Olga V Saik, Evgeny I Rogaev, Nikolay A Kolchanov
BACKGROUND: Obesity is heritable. It predisposes to many diseases. The objectives of this study were to create a compendium of genes relevant to feeding behavior (FB) and/or body weight (BW) regulation; to construct and to analyze networks formed by associations between genes/proteins; and to identify the most significant genes, biological processes/pathways, and tissues/organs involved in BW regulation. RESULTS: The compendium of genes controlling FB or BW includes 578 human genes...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28105926/the-gene-expression-profile-of-renal-medulla-in-isiah-rats-with-inherited-stress-induced-arterial-hypertension
#13
Marina A Ryazanova, Larisa A Fedoseeva, Nikita I Ershov, Vadim M Efimov, Arcady L Markel, Olga E Redina
BACKGROUND: The changes in the renal function leading to a reduction of medullary blood flow can have a great impact on sodium and water homeostasis and on the long-term control of arterial blood pressure. The RNA-Seq approach was used for transcriptome profiling of the renal medulla from hypertensive ISIAH and normotensive WAG rats to uncover the genetic basis of the changes underlying the renal medulla function in the ISIAH rats being a model of the stress-sensitive arterial hypertension and to reveal the genes which possibly may contribute to the alterations in medullary blood flow...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28104679/genome-sequencing-of-the-behaviour-manipulating-virus-lbfv-reveals-a-possible-new-virus-family
#14
D Lepetit, B Gillet, S Hughes, K Kraaijeveld, J Varaldi
Parasites are sometimes able to manipulate the behaviour of their hosts. However, the molecular cues underlying this phenomenon are poorly documented. We previously reported that the parasitoid wasp Leptopilina boulardi which develops from Drosophila larvae is often infected by an inherited DNA virus. In addition to being maternally transmitted, the virus benefits from horizontal transmission in superparasitized larvae (Drosophila that have been parasitized several times). Interestingly, the virus forces infected females to lay eggs in already parasitized larvae, thus increasing the chance of being horizontally transmitted...
January 19, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28104544/molecular-genetics-of-familial-hypercholesterolemia-in-israel-revisited
#15
Ronen Durst, Uche Ken Ibe, Shoshi Shpitzen, Daniel Schurr, Osnat Eliav, Marta Futema, Ros Whittall, Auryan Szalat, Vardiella Meiner, Hilla Knobler, Dov Gavish, Yaakov Henkin, Avishay Ellis, Ardon Rubinstein, Dror Harats, Rafael Bitzur, Bruno Hershkovitz, Steve E Humphries, Eran Leitersdorf
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes for LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type9 (PCSK9). The purpose of the current investigation was to define the current spectrum of mutations causing FH in Israel. METHODS: New families were collected through the MEDPED (Make Early Diagnosis Prevent Early Death) FH program. Molecular analysis of the LDLR, PCSK9 and APOB genes was done using High Resolution Melt and direct sequencing in 67 index cases...
December 18, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28104397/pink1-alleviates-myocardial-hypoxia-reoxygenation-injury-by-ameliorating-mitochondrial-dysfunction
#16
Yang Li, Liangxian Qiu, Xiping Liu, Zhiwen Hou, Bo Yu
PTEN inducible kinase-1 (PINK1) mutant induces mitochondrial dysfunction of cells, resulting in an inherited form of Parkinson's disease. However its exact role in the cardiomyocytes is unclear. The present study examined the function of PINK1 in hypoxia-reoxygenation (H/R) induced H9c2 cell damage and its potential mechanism. The H/R model in H9c2 cells was established by 6 h of hypoxia and 12 h of reoxygenation. The CCK8 and LDH assay indicated that the cell viability was obviously reduced after H/R. The expression of PINK1 was decreased in H/R-induced H9c2 cells compared with control group...
January 16, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28104002/-ten-day-periodical-of-traditional-chinese-medicine-and-its-concept-of-confluence-of-chinese-and-western-medicine
#17
S B Zhang, Z W Wang
The Ten-day Periodical of Traditional Chinese Medicine, a TCM Journal founded by the Xiamen Professional School of Traditional Chinese Medicine in July 1934, had published a lot of essays written by many TCM physicians that interpret the concept of traditional Chinese medicine by western medicine, offering the academic way of probing confluence of Chinese and Western Medicine in Xiamen. The aim of the Journal includes "developing TCM academy" and the "confluence of TCM with western medicine" , the exploration of TCM and the penetration of Chinese and western medicine, and getting rid of blind faith on "science" to set up the belief of TCM and to prove the ideas of visceral theory and its gasification by the anatomical knowledge of western medicine...
September 28, 2016: Zhonghua Yi Shi za Zhi, Chinese Journal of Medical History
https://www.readbyqxmd.com/read/28103901/pathogenic-lrrk2-variants-are-gain-of-function-mutations-that-enhance-lrrk2-mediated-repression-of-%C3%AE-catenin-signaling
#18
Daniel C Berwick, Behzad Javaheri, Andrea Wetzel, Mark Hopkinson, Jonathon Nixon-Abell, Simone Grannò, Andrew A Pitsillides, Kirsten Harvey
BACKGROUND: LRRK2 mutations and risk variants increase susceptibility to inherited and idiopathic Parkinson's disease, while recent studies have identified potential protective variants. This, and the fact that LRRK2 mutation carriers develop symptoms and brain pathology almost indistinguishable from idiopathic Parkinson's disease, has led to enormous interest in this protein. LRRK2 has been implicated in a range of cellular events, but key among them is canonical Wnt signalling, which results in increased levels of transcriptionally active β-catenin...
January 19, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28103888/photoreceptor-protection-via-blockade-of-bet-epigenetic-readers-in-a-murine-model-of-inherited-retinal-degeneration
#19
Lei Zhao, Jun Li, Yingmei Fu, Mengxue Zhang, Bowen Wang, Jonathan Ouellette, Pawan K Shahi, Bikash R Pattnaik, Jyoti J Watters, Wai T Wong, Lian-Wang Guo
BACKGROUND: The bromodomain and extraterminal domain (BET) family proteins (BET2, BET3, and BET4) "read" (bind) histone acetylation marks via two distinct bromodomains (Brom1 and Brom2) facilitating transcriptional activation. These epigenetic "readers" play crucial roles in pathogenic processes such as inflammation. The role of BETs in influencing the degenerative process in the retina is however unknown. METHODS: We employed the rd10 mouse model (Pde6b (rd10) mutation) of retinitis pigmentosa (RP) to examine the involvement of BET proteins in retinal neurodegeneration...
January 19, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28103633/irf4-rs12203592-functional-variant-and-melanoma-survival
#20
Miriam Potrony, Aida Rebollo-Morell, Pol Giménez-Xavier, Lisa Zimmer, Joan Anton Puig-Butille, Gemma Tell-Marti, Antje Sucker, Celia Badenas, Cristina Carrera, Josep Malvehy, Dirk Schadendorf, Susana Puig
Inherited genetic factors may modulate clinical outcome in melanoma. Some low to medium risk genes in melanoma susceptibility play a role in melanoma outcome. Our aim was to assess the role of the functional IRF4 SNP rs12203592 in melanoma prognosis in two independent sets (Barcelona N=493 and Essen N=438). Genotype association analyses showed that the IRF4 rs12203592 T allele increased the risk of dying from melanoma in both sets (Barcelona: Odds Ratio [OR]=6.53, 95%CI 1.38 to 30.87, Adj P=0.032; Essen: OR=1...
January 19, 2017: International Journal of Cancer. Journal International du Cancer
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