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https://www.readbyqxmd.com/read/28934671/the-hnf1a-mutant-ala180val-clinical-challenges-in-determining-causality-of-a-rare-hnf1a-variant-in-familial-diabetes
#1
J V Sagen, L Bjørkhaug, B I Haukanes, L Grevle, J Molnes, B G Nedrebø, O Søvik, P R Njølstad, S Johansson, A Molven
AIMS: Heterozygous mutations in hepatocyte nuclear factor-1A (HNF1A) cause maturity-onset diabetes of the young type 3 (MODY3). Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance. METHODS: The HNF1A gene was sequenced in two independently recruited families from the Norwegian MODY Registry. Both familes were phenotyped clinically and biochemically. Microsatellite markers around and within the HNF1A locus were used for haplotyping...
September 1, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28934503/a-novel-requirement-for-drosha-in-maintenance-of-mammalian-cg-methylation
#2
Athanasia Stathopoulou, Jyoti B Chhetri, John C Ambrose, Pierre-Olivier Estève, Lexiang Ji, Hediye Erdjument-Bromage, Guoqiang Zhang, Thomas A Neubert, Sriharsa Pradhan, Javier Herrero, Robert J Schmitz, Steen K T Ooi
In mammals, faithful inheritance of genomic methylation patterns ensures proper gene regulation and cell behaviour, impacting normal development and fertility. Following establishment, genomic methylation patterns are transmitted through S-phase by the maintenance methyltransferase Dnmt1. Using a protein interaction screen, we identify Microprocessor component DROSHA as a novel DNMT1-interactor. Drosha-deficient embryonic stem (ES) cells display genomic hypomethylation that is not accounted for by changes in the levels of DNMT proteins...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28934431/genetic-profiling-and-comorbidities-of-zika-infection
#3
Mohammad Ali Moni, Pietro Lio'
Background: The difficulty in distinguishing infection by Zika virus (ZIKV) from other flaviviruses is a global health concern, particularly given the high risk of neurologic complications (including Guillain-Barré syndrome [GBS]) with ZIKV infection. Methods: We developed quantitative frameworks to compare and explore infectome, diseasome, and comorbidity of ZIKV infections. We analyzed gene expression microarray and RNA-Seq data from ZIKV, West Nile fever (WNF), chikungunya, dengue, yellow fever, Japanese encephalitis virus, GBS, and control datasets...
September 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28934397/a-modifier-of-huntington-s-disease-onset-at-the-mlh1-locus
#4
Jong-Min Lee, Michael J Chao, Denise Harold, Kawther Abu Elneel, Tammy Gillis, Peter Holmans, Lesley Jones, Michael Orth, Richard H Myers, Seung Kwak, Vanessa C Wheeler, Marcy E MacDonald, James F Gusella
Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by an expanded CAG repeat in HTT. Many clinical characteristics of HD such as age at motor onset are determined largely by the size of HTT CAG repeat. However, emerging evidence strongly supports a role for other genetic factors in modifying the disease pathogenesis driven by mutant huntingtin. A recent genome-wide association analysis to discover genetic modifiers of HD onset age provided initial evidence for modifier loci on chromosomes 8 and 15 and suggestive evidence for a locus on chromosome 3...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934391/homozygous-kidins220-loss-of-function-variants-in-fetuses-with-cerebral-ventriculomegaly-and-limb-contractures
#5
I-L Mero, H H Mørk, Y Sheng, A Blomhoff, G L Opheim, Aa Erichsen, M D Vigeland, K K Selmer
Heterozygous mutations in KIDINS220 were recently suggested a cause of spastic paraplegia, intellectual disability, nystagmus and obesity. All patients carried terminal nonsense de novo mutations that seemed to escape nonsense-mediated mRNA decay. The mechanism for pathogenicity is yet unexplained, as it seems that heterozygous loss-of-function variants of KIDINS220 are generally well tolerated. We present a consanguineous couple who experienced four pregnancy terminations due to repeated findings in the fetuses comprising enlarged cerebral ventricles and limb contractures...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934121/current-status-of-early-blight-resistance-in-tomato-an-update
#6
REVIEW
Pragya Adhikari, Yeonyee Oh, Dilip R Panthee
Early blight (EB) is one of the dreadful diseases of tomato caused by several species of Alternaria including Alternaria linariae (which includes A. solani and A. tomatophila), as well as A. alternata. In some instances, annual economic yield losses due to EB have been estimated at 79%. Alternaria are known only to reproduce asexually, but a highly-virulent isolate has the potential to overcome existing resistance genes. Currently, cultural practices and fungicide applications are employed for the management of EB due to the lack of strong resistant cultivars...
September 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28933640/the-impact-of-antithrombin-deficiency-on-women-s-reproductive-health-experiences-and-healthcare-decision-making
#7
Ariela L Marshall, Juliana Perez Botero, Aneel A Ashrani, Rajiv K Pruthi, John A Heit, Ashish Chintakuntlawar, Jennifer C Guenther, Mrinal M Patnaik
BACKGROUND: Women with inherited antithrombin (AT) deficiency are at high risk for venous thromboembolism (VTE), especially during times of estrogen exposure, but little is known about patient-oriented reproductive decision-making in this population. MATERIALS AND METHODS: Provider-administered survey of women with AT deficiency. Participants were asked to discuss their diagnosis of AT deficiency and questioned about (1) contraception, (2) pregnancies, and (3) menorrhagia, and the impact of their AT deficiency on each reproductive health experience...
September 21, 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/28933411/mitochondrial-dysfunction-in-lysosomal-storage-disorders
#8
REVIEW
Mario de la Mata, David Cotán, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M Suárez-Rivero, Gustavo Tiscornia, Manuel Oropesa-Ávila
Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested material in lysosomes. The accumulation of substances affects the function of lysosomes and other organelles, resulting in secondary alterations such as impairment of autophagy, mitochondrial dysfunction, inflammation and apoptosis. LSDs frequently involve the central nervous system (CNS), where neuronal dysfunction or loss results in progressive neurodegeneration and premature death...
October 11, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933302/smart-organic-inorganic-nanogels-for-activatable-theranostics
#9
Fangyuan Li, Zeyu Liang, Daishun Ling
Intelligent polymeric nanogels, with the rationally designed stimuli-responsive drug delivery and controlled drug release, have attracted considerable attention as an ideal nanoplatform for activatable therapy. On the other hand, functional inorganic nanomaterials are widely used as medical imaging agents due to their unique magnetic or optical properties. The construction of stimuli-responsive polymeric nanogels incorporating with functional inorganic nanomaterials inherits the excellent properties of both polymers and inorganic nanomaterials, consequently, the resulted organic-inorganic hybrid nanogels naturally exhibit stimuli-responsive multi-functionalities for both imaging and therapy...
September 20, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28933282/molecular-mechanisms-of-epigenetic-regulators-as-activatable-targets-in-cancer-theranostics
#10
Yinglu Li, Zhiming Li, Wei-Guo Zhu
Epigenetics is defined as somatically inheritable changes that are not accompanied by alterations in DNA sequence. Epigenetics encompasses DNA methylation, covalent histone modifications, non-coding RNA as well as nucleosome remodeling. Notably, abnormal epigenetic changes play a critical role in cancer development including malignant transformation, metastasis, prognosis, drug resistance and tumor recurrence, which can provide effective targets for cancer prognosis, diagnosis and therapy. Understanding these changes provide effective means for cancer diagnosis and druggable targets for better clinical applications...
September 20, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28933074/-genomic-research-of-traditional-chinese-medicines-in-vivo-metabolism
#11
Shui-Ming Xiao, Rui Bai, Xiao-Yan Zhang
Gene is the base of in vivo metabolism and effectiveness for traditional Chinese medicines (TCM), and the gene expression, regulation and modification are used as the research directions to perform the TCM multi-component, multi-link and multi-target in vivo metabolism studies, which will improve the research on TCM metabolic proecess, effect target and molecular mechanism. Humans are superorganisms with 1% genes inherited from parents and 99% genes from various parts of the human body, mainly coming from the microorganisms in intestinal flora...
November 2016: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/28932927/screening-for-germline-mutations-in-mismatch-repair-genes-in-patients-with-lynch-syndrome-by-next-generation-sequencing
#12
Barbara Luísa Soares, Ayslan Castro Brant, Renan Gomes, Tatiane Pastor, Naye Balzan Schneider, Ândrea Ribeiro-Dos-Santos, Paulo Pimentel de Assumpção, Maria Isabel W Achatz, Patrícia Ashton-Prolla, Miguel Angelo Martins Moreira
Lynch syndrome (LS) is an autosomal dominant disorder, with high penetrance that affects approximately 3% of the cases of colorectal cancer. Affected individuals inherit germline mutations in genes responsible for DNA mismatch repair, mainly at MSH2, MLH1, MSH6 and PMS2. The molecular screening of these individuals is frequently costly and time consuming due to the large size of these genes. In addition, PMS2 mutation detection is often a challenge because there are 16 different pseudogenes identified until now...
September 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28932656/oxygen-rich-lithium-oxide-phases-formed-at-high-pressure-for-potential-lithium-air-battery-electrode
#13
Wenge Yang, Duck Young Kim, Liuxiang Yang, Nana Li, Lingyun Tang, Khalil Amine, Ho-Kwang Mao
The lithium-air battery has great potential of achieving specific energy density comparable to that of gasoline. Several lithium oxide phases involved in the charge-discharge process greatly affect the overall performance of lithium-air batteries. One of the key issues is linked to the environmental oxygen-rich conditions during battery cycling. Here, the theoretical prediction and experimental confirmation of new stable oxygen-rich lithium oxides under high pressure conditions are reported. Three new high pressure oxide phases that form at high temperature and pressure are identified: Li2O3, LiO2, and LiO4...
September 2017: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://www.readbyqxmd.com/read/28932277/a-retrospective-review-of-the-multidisciplinary-management-of-medullary-thyroid-cancer-eligibility-for-systemic-therapy
#14
Georgia Geller, Janessa Laskin, Winson Y Cheung, Cheryl Ho
BACKGROUND: Medullary thyroid carcinoma (MTC) accounts for 1-2% of all thyroid cancers. The clinical course of metastatic disease can be indolent. Our aim was to characterize the natural history of disease to evaluate the true proportion of patients who would be eligible for the currently available systemic therapies. METHODS: The British Columbia Cancer Agency (BCCA) provides cancer care to a population of 4.6 million. A retrospective chart review was conducted of all patients with MTC referred to the BCCA from 1991 to 2013...
2017: Thyroid Research
https://www.readbyqxmd.com/read/28932060/synophrys-epidemiological-study
#15
Pramod Kumar
INTRODUCTION: Fusion of eyebrows above the bridge of nose is known as synophrys and is a normal variation. This variation is also recognized as a clinical feature of several genetic disorders, Cornelia De Lange syndrome being the commonest. Several studies, on aesthetics of face and eyebrows have been conducted, also on the role of eyebrows in emotional expression and nonverbal communication. A recent study has pointed a gene associated with synophrys. Surprisingly, however synophrys and its prevalence in the normal population is not known thus we conducted a study of its prevalence in Oman...
July 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/28931740/single-sperm-sequencing-reveals-the-accelerated-mitochondrial-mutation-rate-in-male-daphnia-pulex-crustacea-cladocera
#16
Sen Xu, Kenny Van Tran, Swatantra Neupane, Marelize Snyman, Trung Viet Huynh, Way Sung
Mutation rate in the nuclear genome differs between sexes, with males contributing more mutations than females to their offspring. The male-biased mutation rates in the nuclear genome is most likely to be driven by a higher number of cell divisions in spermatogenesis than in oogenesis, generating more opportunities for DNA replication errors. However, it remains unknown whether male-biased mutation rates are present in mitochondrial DNA (mtDNA). Although mtDNA is maternally inherited and male mtDNA mutation typically does not contribute to genetic variation in offspring, male mtDNA mutations are critical for male reproductive health...
September 27, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28931574/enhanced-nociception-in-angelman-syndrome-model-mice
#17
Eric S McCoy, Bonnie Taylor-Blake, Megumi Aita, Jeremy M Simon, Benjamin D Philpot, Mark J Zylka
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutation or deletion of the maternal UBE3A allele. The maternal UBE3A allele is expressed in nearly all neurons of the brain and spinal cord, whereas the paternal UBE3A allele is repressed by an extremely long antisense transcript (UBE3A-ATS). Little is known about expression of UBE3A in the peripheral nervous system, where loss of maternal UBE3A might contribute to AS phenotypes. Here we sought to examine maternal and paternal Ube3a expression in dorsal root ganglia (DRG) neurons and to evaluate whether nociceptive responses were affected in AS model mice (global deletion of maternal Ube3a allele; Ube3a(m-/p+) )...
September 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28931564/towards-precision-medicine-for-hypertension-a-review-of-genomic-epigenomic-and-microbiomic-effects-on-blood-pressure-in-experimental-rat-models-and-humans
#18
REVIEW
Sandosh Padmanabhan, Bina Joe
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions that are causally associated with hypertension. In more recent times, genome-wide studies in humans have also begun to improve our understanding of the inheritance of polygenic forms of hypertension. Based on the chronological progression of research into the genetics of hypertension as the "structural backbone," this review catalogs and discusses the rat and human genetic elements mapped and implicated in blood pressure regulation...
October 1, 2017: Physiological Reviews
https://www.readbyqxmd.com/read/28931560/ret-mediated-modulation-of-tumour-microenvironment-and-immune-response-in-men2
#19
Maria Domenica Castellone, Rosa Marina Melillo
Medullary thyroid carcinomas (MTC) arise from thyroid parafollicular, calcitonin-producing C-cells and can occur either as sporadic or as hereditary diseases in the context of familial syndromes, including multiple endocrine neoplasia 2A (MEN2A), multiple endocrine neoplasia 2B (MEN2B) and familial MTC (FMTC). In a large fraction of sporadic cases, and virtually in all inherited cases of MTC, activating point mutations of the RET proto-oncogene are found. RET encodes for a receptor tyrosine kinase protein endowed with transforming potential on thyroid parafollicular cells...
September 20, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28931159/isolation-and-molecular-characterization-of-the-transformer-gene-from-bactrocera-cucurbitae-diptera-tephritidae
#20
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
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