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Genetic diseases

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https://www.readbyqxmd.com/read/28324805/limited-role-of-interferon-kappa-ifnk-truncating-mutations-in-common-variable-immunodeficiency
#1
Faranaz Atschekzei, Thilo Dörk, Peter Schürmann, Robert Geffers, Torsten Witte, Reinhold E Schmidt
We used whole exome sequencing to determine the genetic background of CVID in two non-consanguineous German families. We identified IFNK (interferon-kappa) as the only candidate gene that harbored truncating mutations in affected members from both families. One family segregated c.30_31insTGTT, a known frameshift variant, while the other family segregated the novel IFNK mutation p.K199X that creates a premature stop codon. We sequenced the whole coding region of IFNK in a further series of 167 CVID patients and 192 healthy controls...
March 18, 2017: Cytokine
https://www.readbyqxmd.com/read/28324682/gene-expression-analysis-in-untreated-absence-epilepsy-demonstrates-an-inconsistent-pattern
#2
Markus von Deimling, Robert Häsler, Verena Steinbach, Paul-Martin Holterhus, Sarah von Spiczak, Ulrich Stephani, Ingo Helbig, Hiltrud Muhle
OBJECTIVE: Childhood and Juvenile Absence Epilepsy account for 30% of all genetic generalized epilepsies with a strong genetic contribution. At the current state the genetic background remains to be resolved. The aim of this study was to identify disease associated transcripts pinpointing potential underlying disease mechanisms in patients with CAE and JAE. METHODS: We performed gene expression analysis from peripheral blood mononuclear cells (PBMCs) in 30 patients with newly-diagnosed absence epilepsy prior to initiating treatment and 30 healthy age - and gender-matched pediatric controls...
February 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28324493/introduction-to-telomeres-and-telomerase
#3
Zhou Songyang
Telomeres are ends of chromosomes that play an important part in the biology of eukaryotic cells. Continued optimization and development of technologies have enabled researchers to probe the mechanisms of telomere maintenance in ever expanding areas. A combination of molecular, genetic, proteomic, and biochemical approaches has revealed the complex and coordinated action of telomerase and telomere-associated proteins. The length and integrity of telomeres are maintained to prevent telomere dysfunction, which has been linked to senescence, aging, disease, and cancer...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28324486/mitopho8%C3%AE-60-assay-as-a-tool-to-quantitatively-measure-mitophagy-activity
#4
Zhiyuan Yao, Xu Liu, Daniel J Klionsky
Mitophagy, a selective type of macroautophagy (hereafter referred to as autophagy), specifically mediates the vacuole/lysosome-dependent degradation of damaged or surplus mitochondria. Because this process regulates the number and quality of mitochondria, it is vital for proper cellular homeostasis. Mitophagy also plays critical roles in the clearance of paternal mitochondria in C. elegans embryos, in erythroid cell maturation, and in the prevention of neurodegenerative disease and cancer. In order to study the molecular mechanism and regulation of mitophagy, sensitive assays are necessary to quantitatively measure mitophagy activity...
March 22, 2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28324326/the-impact-of-fabry-disease-on-reproductive-fitness
#5
Dawn A Laney, Virginia Clarke, Allison Foley, Eric W Hall, Scott E Gillespie, Myrl Holida, Morgan Simmons, Alexandrea Wadley
Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada...
March 22, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28324303/subtypes-of-parkinson-s-disease-what-do-they-tell-us-about-disease-progression
#6
REVIEW
Seyed-Mohammad Fereshtehnejad, Ronald B Postuma
Parkinson's disease is a widely heterogeneous disorder with a broad list of motor and nonmotor manifestations. Identifying subtypes of Parkinson's disease is one of the top clinical and research priorities. This review aims to summarize the most valid conventional and recent subtyping solutions that have been introduced so far and to update our current knowledge with recent discoveries on the association between subtypes and disease progression. We also discuss the challenges of subtyping in the context of Parkinson's disease, stability of the subtypes over time, and potential clinical implications...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28324302/huntington-s-disease-update-on-treatments
#7
REVIEW
Kara J Wyant, Andrew J Ridder, Praveen Dayalu
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, ending in death. Despite the discovery of the underlying genetic mutation more than 20 years ago, treatment remains focused on symptomatic management. Chorea, the most recognizable symptom, responds to medication that reduces dopaminergic neurotransmission. Psychiatric symptoms such as depression and anxiety may also respond well to symptomatic therapies...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28324300/%C3%AE-synuclein-and-parkinsonism-updates-and-future-perspectives
#8
REVIEW
Kaie Rosborough, Neha Patel, Lorraine V Kalia
Mutations in the SNCA gene, which encodes the α-synuclein protein, were the first discovered genetic causes of familial parkinsonism with Lewy pathology. To date, six different SNCA missense mutations as well as multiplications are known to cause parkinsonism. For this review, we performed a literature search to identify all published cases of SNCA-related parkinsonism to provide an updated summary of the clinical and neuropathological features of parkinsonism due to SNCA mutations. Familial parkinsonism associated with SNCA is rare, but α-synuclein aggregation is a core feature of sporadic parkinsonism, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28324236/efficient-de-novo-synthesis-of-resveratrol-by-metabolically-engineered-escherichia-coli
#9
Junjun Wu, Peng Zhou, Xia Zhang, Mingsheng Dong
Resveratrol has been the subject of numerous scientific investigations due to its health-promoting activities against a variety of diseases. However, developing feasible and efficient microbial processes remains challenging owing to the requirement of supplementing expensive phenylpropanoic precursors. Here, various metabolic engineering strategies were developed for efficient de novo biosynthesis of resveratrol. A recombinant malonate assimilation pathway from Rhizobium trifolii was introduced to increase the supply of the key precursor malonyl-CoA and simultaneously, the clustered regularly interspaced short palindromic repeats interference system was explored to down-regulate fatty acid biosynthesis pathway to inactivate the malonyl-CoA consumption pathway...
March 21, 2017: Journal of Industrial Microbiology & Biotechnology
https://www.readbyqxmd.com/read/28324196/should-we-genetically-select-for-the-beauty-norm-of-fair-skin
#10
Herjeet Marway
Fair skin is often regarded as a beauty ideal in many parts of the world. Genetic selection for non-disease traits may allow reproducers to select fair skin for the purposes of beauty, and may be justified under various procreative principles. In this paper I assess the ethics of genetic selection for fair skin as a beauty feature. In particular, I explore the discriminatory aspects and demands of such selection. Using race and colour hierarchies that many would find objectionable, I argue that selection for beauty that is underpinned by such hierarchies is not a trivial selection...
March 21, 2017: Health Care Analysis: HCA: Journal of Health Philosophy and Policy
https://www.readbyqxmd.com/read/28324046/characteristics-of-pediatric-vs-adult-pheochromocytomas-and-paragangliomas
#11
Christina Pamporaki, Barbora Hamplova, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri J L M Timmers, Martin Fassnacht, Barbara Klink, Maya Lodish, Constantine A Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard O Sinnott, Andrzej Januszewicz, Karel Pacak, Graeme Eisenhofer
Context: Pheochromocytomas and paragangliomas (PPGLs) in children are often hereditary and may present with different characteristics compared to adults. Hereditary PPGLs can be separated into two groups: cluster 1 and cluster 2 tumors due to mutations impacting hypoxia and kinase receptor signaling pathways respectively. Objective: To identify differences in presentation of PPGLs between children and adults. Design: A retrospective cross-sectional clinical study...
January 31, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324039/unique-regenerative-mechanism-to-replace-bone-lost-during-dietary-bone-depletion-in-weanling-mice
#12
Matilda H-C Sheng, Kin-Hing William Lau, Ram Lakhan, Abu Shufian Ishtiaq Ahmed, Charles H Rundle, Patra Biswanath, David J Baylink
This study was undertaken to determine the mechanism whereby calcitropic hormones and mesenchymal stem cell progeny changes involved in bone repletion, a regenerative bone process that restores the bone lost to calcium deficiency. To initiate depletion, weanling mice with a mixed C57BL/6 (75%) and CD1 (25%) genetic background were fed a calcium-deficient diet (0.01%) for 14 days. For repletion, the mice were re-fed a control diet containing 1.2% calcium for 14 days. Depletion decreased plasma calcium and increased plasma PTH, 1,25(OH)2D, and CTX...
January 26, 2017: Endocrinology
https://www.readbyqxmd.com/read/28324025/clinical-and-genetic-features-of-patients-with-type-2-diabetes-and-renal-glycosuria
#13
Siqian Gong, Jiandong Guo, Xueyao Han, Meng Li, Lingli Zhou, Xiaoling Cai, Yu Zhu, Yingying Luo, Simin Zhang, Xianghai Zhou, Yumin Ma, Linong Ji
Context: A sodium glucose cotransporter 2 (SGLT2) inhibitor, which increases urinary glucose excretion, was recently reported to decrease blood glucose levels and deaths among patients with type 2 diabetes mellitus (T2DM) and established cardiovascular disease. Mutations in SLC5A2 and HNF1A are associated with renal glycosuria, but their contributions to renal glycosuria in patients with T2DM are not well understood. Objective: To assess the clinical features of T2DM patients with renal glycosuria and those with low urinary glucose excretion (LUGE) and identify variants in the coding regions of SLC5A2 and HNF1A in patients with renal glycosuria and T2DM...
January 26, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323906/flt-1-gene-polymorphisms-and-protein-expression-profile-in-rheumatoid-arthritis
#14
Agnieszka Paradowska-Gorycka, Anna Sowinska, Andrzej Pawlik, Damian Malinowski, Barbara Stypinska, Ewa Haladyj, Katarzyna Romanowska-Prochnicka, Marzena Olesinska
OBJECTIVES: Inflammation and angiogenesis are a significant element of pathogenesis in rheumatoid arthritis (RA). The FLT-1- triggering factor for production of proinflammatory cytokines-might contributes to inflammation in patients with RA. Association of the FLT-1 polymorphisms with different "angiogenic diseases" suggests that it may be a novel genetic risk factor also for RA. The aim of the study was to identify FLT-1 genetic variants and their possible association with sFLT-1 levels, susceptibility to and severity of RA...
2017: PloS One
https://www.readbyqxmd.com/read/28323884/a-system-for-coordinated-analysis-of-translational-readthrough-and-nonsense-mediated-mrna-decay
#15
Stacey L Baker, J Robert Hogg
The nonsense-mediated mRNA decay (NMD) pathway degrades mRNAs containing premature termination codons, limiting the expression of potentially deleterious truncated proteins. This activity positions the pathway as a regulator of the severity of genetic diseases caused by nonsense mutations. Because many genetic diseases result from nonsense alleles, therapeutics inducing readthrough of premature termination codons and/or inhibition of NMD have been of great interest. Several means of enhancing translational readthrough have been reported to concomitantly inhibit NMD efficiency, but tools for systematic analysis of mammalian NMD inhibition by translational readthrough are lacking...
2017: PloS One
https://www.readbyqxmd.com/read/28323875/the-clinical-features-outcomes-and-genetic-characteristics-of-hypertrophic-cardiomyopathy-patients-with-severe-right-ventricular-hypertrophy
#16
Xiying Guo, Chaomei Fan, Lei Tian, Yanling Liu, Hongyue Wang, Shihua Zhao, Fujian Duan, Xiuling Zhang, Xing Zhao, Fengqi Wang, Hongguang Zhu, Aiqing Lin, Xia Wu, Yishi Li
INTRODUCTION: Severe right ventricular hypertrophy (SRVH) is a rare phenotype in hypertrophic cardiomyopathy (HCM) for which limited information is available. This study was undertaken to investigate the clinical, prognostic and genetic characteristics of HCM patients with SRVH. METHODS: HCM with SRVH was defined as HCM with a maximum right ventricular wall thickness ≥10 mm. Whole-genome sequencing (WGS) was performed in HCM patients with SRVH. Multivariate Cox proportional hazards regression models were used to identify risk factors for cardiac death and events in HCM with SRVH...
2017: PloS One
https://www.readbyqxmd.com/read/28323831/genetic-assessment-of-age-associated-alzheimer-disease-risk-development-and-validation-of-a-polygenic-hazard-score
#17
Rahul S Desikan, Chun Chieh Fan, Yunpeng Wang, Andrew J Schork, Howard J Cabral, L Adrienne Cupples, Wesley K Thompson, Lilah Besser, Walter A Kukull, Dominic Holland, Chi-Hua Chen, James B Brewer, David S Karow, Karolina Kauppi, Aree Witoelar, Celeste M Karch, Luke W Bonham, Jennifer S Yokoyama, Howard J Rosen, Bruce L Miller, William P Dillon, David M Wilson, Christopher P Hess, Margaret Pericak-Vance, Jonathan L Haines, Lindsay A Farrer, Richard Mayeux, John Hardy, Alison M Goate, Bradley T Hyman, Gerard D Schellenberg, Linda K McEvoy, Ole A Andreassen, Anders M Dale
BACKGROUND: Identifying individuals at risk for developing Alzheimer disease (AD) is of utmost importance. Although genetic studies have identified AD-associated SNPs in APOE and other genes, genetic information has not been integrated into an epidemiological framework for risk prediction. METHODS AND FINDINGS: Using genotype data from 17,008 AD cases and 37,154 controls from the International Genomics of Alzheimer's Project (IGAP Stage 1), we identified AD-associated SNPs (at p < 10-5)...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28323826/apoe-related-risk-of-mild-cognitive-impairment-and-dementia-for-prevention-trials-an-analysis-of-four-cohorts
#18
Jing Qian, Frank J Wolters, Alexa Beiser, Mary Haan, M Arfan Ikram, Jason Karlawish, Jessica B Langbaum, John M Neuhaus, Eric M Reiman, J Scott Roberts, Sudha Seshadri, Pierre N Tariot, Beth McCarty Woods, Rebecca A Betensky, Deborah Blacker
BACKGROUND: With the onset of prevention trials for individuals at high risk for Alzheimer disease, there is increasing need for accurate risk prediction to inform study design and enrollment, but available risk estimates are limited. We developed risk estimates for the incidence of mild cognitive impairment (MCI) or dementia among cognitively unimpaired individuals by APOE-e4 dose for the genetic disclosure process of the Alzheimer's Prevention Initiative Generation Study, a prevention trial in cognitively unimpaired APOE-e4/e4 homozygote individuals...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#19
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28323683/genetic-alzheimer-disease-and-sporadic-dementia-with-lewy-bodies-a-comorbidity-presenting-as-primary-progressive-aphasia
#20
Tereza Picková, Radoslav Matěj, Ondrej Bezdicek, Jiří Keller, Julie van der Zee, Christine Van Broeckhoven, Zsolt Cséfalvay, Robert Rusina
We report a 44-year-old woman, with a family history of early-onset dementia, presenting with primary progressive aphasia. This clinically variable syndrome has multiple underlying pathologies, and correlations between clinical manifestations and postmortem neuropathologic findings are controversial. Our patient suffered worsening language impairment with major word-finding difficulties but preserved comprehension. She also developed episodic memory impairment. Her condition progressed to dementia with behavioral changes...
March 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
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