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https://www.readbyqxmd.com/read/27926996/small-molecule-modulator-of-sigma-2-receptor-is-neuroprotective-and-reduces-cognitive-deficits-and-neuro-inflammation-in-experimental-models-of-alzheimer-s-disease
#1
Bitna Yi, James J Sahn, Pooneh Memar Ardestani, Andrew K Evans, Luisa Scott, Jessica Z Chan, Sangeetha Iyer, Ashley Crisp, Gabriella Zuniga, Jonathan Pierce-Shimomura, Stephen F Martin, Mehrdad Shamloo
Accumulating evidence suggests that modulating the sigma 2 receptor (Sig2R) can provide beneficial effects for neurodegenerative diseases. Herein, we report the identification of a novel class of Sig2R binding ligands and their cellular and in vivo activity in experimental models of Alzheimer's disease (AD). We report that SAS-0132 and DKR-1051, selective ligands of Sig2R, modulate intracellular Ca(2+) levels in human SK-N-SH neuroblastoma cells. The Sig2R antagonists SAS-0132 and JVW-1009 are neuroprotective in a C...
December 7, 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27926992/inherited-diseases-caused-by-mutations-in-cathepsin-protease-genes
#2
REVIEW
Stephanie Ketterer, Alejandro Gomez-Auli, Larissa E Hillebrand, Agnese Petrera, Anett Ketscher, Thomas Reinheckel
Lysosomal cathepsins are proteolytic enzymes increasingly recognized as prognostic markers and potential therapeutic targets in a variety of diseases. In those conditions the cathepsins are mostly overexpressed, thereby driving the respective pathogenic processes. Although less known, there are also diseases with a genetic deficiency of cathepsins. In fact, nowadays six out of the fifteen human proteases called "cathepsins" have been linked to inherited syndromes. However, only three of these syndromes are typical lysosomal storage diseases, while the others are apparently caused by defective cleavage of specific protein substrates...
December 7, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27926889/precision-medicine-diabetes-and-the-u-s-food-and-drug-administration
#3
Robert J Meyer
The U.S. Food and Drug Administration (FDA) has long sought to achieve the broader use of personalized medicine, which is better targeting of FDA-approved therapies through incorporating precise knowledge of a patient's underlying condition to therapies optimally chosen to match those needs. While some strides have been made in precision medicine-particularly in oncology and rare genetic diseases-most of the standard general medicine indications have yet to realize the benefits of precision-guided therapies...
November 2016: Diabetes Care
https://www.readbyqxmd.com/read/27926857/a-lon-clpp-proteolytic-axis-degrades-complex-i-to-extinguish-ros-production-in-depolarized-mitochondria
#4
Kenneth Robert Pryde, Jan Willem Taanman, Anthony Henry Schapira
Mitochondrial dysfunction is implicated in numerous neurodegenerative disorders and in Parkinson's disease (PD) in particular. PINK1 and Parkin gene mutations are causes of autosomal recessive PD, and these respective proteins function cooperatively to degrade depolarized mitochondria (mitophagy). It is widely assumed that impaired mitophagy causes PD, as toxic reactive oxygen species (ROS)-producing mitochondria accumulate and progressively drive neurodegeneration. Instead, we report that a LON-ClpP proteolytic quality control axis extinguishes ROS in depolarized mitochondria by degrading the complex I ROS-generating domain...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27926541/major-unanswered-questions-in-the-clinical-gout-field
#5
Lisa K Stamp
PURPOSE OF REVIEW: Although gout is one of the most common forms of inflammatory arthritis, it has been relatively neglected until recently. Despite progress in many areas of pathophysiology and genetics of gout and the development of new urate lowering therapies, there remain a number of unanswered clinical questions. With the resurgence of interest in gout it is important to recognize key aspects of gout management that remain challenging and require further research. RECENT FINDINGS: The unanswered clinical issues outlined in this review are basic aspects of gout management that clinicians treating people with gout face on a daily basis and include when urate lowering therapy should be commenced, the most appropriate target serum urate, use of prophylaxis when starting urate lowering therapy and the most appropriate urate lowering therapy, particularly for those with chronic kidney disease...
December 6, 2016: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27926364/chronic-pancreatitis
#6
REVIEW
Michelle Stram, Shu Liu, Aatur D Singhi
Chronic pancreatitis is a debilitating condition often associated with severe abdominal pain and exocrine and endocrine dysfunction. The underlying cause is multifactorial and involves complex interaction of environmental, genetic, and/or other risk factors. The pathology is dependent on the underlying pathogenesis of the disease. This review describes the clinical, gross, and microscopic findings of the main subtypes of chronic pancreatitis: alcoholic chronic pancreatitis, obstructive chronic pancreatitis, paraduodenal ("groove") pancreatitis, pancreatic divisum, autoimmune pancreatitis, and genetic factors associated with chronic pancreatitis...
December 2016: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/27925785/accelerating-scientific-advancement-for-pediatric-rare-lung-disease-research-report-from-a-national-institutes-of-health-nhlbi-workshop-september-3-and-4-2015
#7
Lisa R Young, Bruce C Trapnell, Kenneth D Mandl, Daniel T Swarr, Jennifer A Wambach, Carol J Blaisdell
Pediatric rare lung disease (PRLD) is a term that refers to a heterogeneous group of rare disorders in children. In recent years, this field has experienced significant progress marked by scientific discoveries, multicenter and interdisciplinary collaborations, and efforts of patient advocates. Although genetic mechanisms underlie many PRLDs, pathogenesis remains uncertain for many of these disorders. Furthermore, epidemiology and natural history are insufficiently defined, and therapies are limited. To develop strategies to accelerate scientific advancement for PRLD research, the NHLBI of the National Institutes of Health convened a strategic planning workshop on September 3 and 4, 2015...
December 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27925686/slc4a11-three-dimensional-homology-model-rationalizes-corneal-dystrophy-causing-mutations
#8
Katherine E Badior, Kumari Alka, Joseph R Casey
We studied the structural effects of point mutations of a membrane protein that cause genetic disease. SLC4A11 is a membrane transport protein (OH(-) /H(+) /NH3 /H2 O) of basolateral corneal endothelium, whose mutations cause some cases of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy. We created a three-dimensional homology model of SLC4A11 membrane domain, using Band 3 (SLC4A1) crystal structure as template. The homology model was assessed in silico and by analysis of mutants designed on the basis of the model...
December 7, 2016: Human Mutation
https://www.readbyqxmd.com/read/27925593/a-review-of-machine-learning-and-statistical-approaches-for-detecting-snp-interactions-in-high-dimensional-genomic-data
#9
Suneetha Uppu, Aneesh Krishna, Raj Gopalan
In this era of genome-wide association studies (GWAS), the quest for understanding the genetic architecture of complex diseases is rapidly increasing more than ever before. The development of high throughput genotyping and next generation sequencing technologies enables genetic epidemiological analysis of large scale data. These advances have led to the identification of a number of single nucleotide polymorphisms (SNPs) responsible for disease susceptibility. The interactions between SNPs associated with complex diseases are increasingly being explored in the current literature...
December 2, 2016: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://www.readbyqxmd.com/read/27925230/role-of-abc-transporters-in-trans-epithelial-transport-of-vitamin-k-antagonists
#10
Bernadette Espana, Solange Couturier, Caroline Prouillac
Vitamin K antagonists remain (VKAs) the oral anticoagulant of choice of venous thromboembolic disease. These drugs are characterized by a large inter-individual variability requiring frequent dose tailoring. Genetic polymorphisms for cytochrome CYP2C9 and VKORC1 explain some of the variability, especially in warfarin and acenocoumarol responses. The aim of this study is to assess on cell models the role of ABC transporters in the intestinal transfer of the main coumarin derivatives (warfarin, acenocoumarol) and indanedione derivatives (phenindione, fluindione)...
December 7, 2016: Biopharmaceutics & Drug Disposition
https://www.readbyqxmd.com/read/27925211/impacts-of-fat-from-ruminants-meat-on-cardiovascular-health-and-possible-strategies-to-alter-its-lipid-composition
#11
REVIEW
Vargas-Bello-Pérez E, Larraín R E
In the last decades there has been an increased consumer interest in the fatty acid (FA) composition of ruminant meat due to its content of saturated FA, which have been implicated in diseases associated with modern life. However, recent studies have questioned the recommendations to reduce intake of fat, saturated FA and cholesterol as a mean of reducing risk of cardiovascular disease. Interestingly, ruminant meat has some bioactive lipids such as C18:1t11 and C18:2 c9, t11 which have been reported to have positive effects on human health...
December 7, 2016: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/27925170/associations-of-microrna-single-nucleotide-polymorphisms-and-disease-risk-and-pathophysiology
#12
REVIEW
Xiaoxiao Liu, Zhijun Han, Chengjian Yang
Single nucleotide polymorphisms (SNPs) are genetic variations that contribute to human phenotypes associated with various diseases. SNPs are involved in the regulation of a broad range of physiological and pathological processes, such as cellular senescence, apoptosis, inflammation, and immune response, by up-regulating the expression of classical inflammation markers. Recent studies have suggested that SNPs located in gene-encoding microRNAs (miRNAs) affect various aspects of diseases by regulating the expression or activity of miRNAs...
December 7, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27924948/foxa1-gata3-and-ppar%C3%A9-cooperate-to-drive-luminal-subtype-in-bladder-cancer-a-molecular-analysis-of-established-human-cell-lines
#13
Joshua I Warrick, Vonn Walter, Hironobu Yamashita, Eunah Chung, Lauren Shuman, Vasty Osei Amponsa, Zongyu Zheng, Wilson Chan, Tiffany L Whitcomb, Feng Yue, Tejaswi Iyyanki, Yuka I Kawasawa, Matthew Kaag, Wansong Guo, Jay D Raman, Joo-Seop Park, David J DeGraff
Discrete bladder cancer molecular subtypes exhibit differential clinical aggressiveness and therapeutic response, which may have significant implications for identifying novel treatments for this common malignancy. However, research is hindered by the lack of suitable models to study each subtype. To address this limitation, we classified bladder cancer cell lines into molecular subtypes using publically available data in the Cancer Cell Line Encyclopedia (CCLE), guided by genomic characterization of bladder cancer by The Cancer Genome Atlas (TCGA)...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27924921/birth-weight-and-risk-of-ischemic-heart-disease-a-mendelian-randomization-study
#14
Shiu Lun Au Yeung, Shi Lin Lin, Albert Martin Li, C Mary Schooling
Low birth weight is a risk factor for cardiovascular disease. However, the association could be confounded by many factors. We used Mendelian randomization to clarify the role of birth weight in ischemic heart disease (IHD) and lipids. We used all 7 single nucleotide polymorphisms (SNPs) independently contributing to birth weight at genome wide significance (p < 5 × 10(-8)) in separate sample instrumental variable analysis to estimate the effect of birth weight on IHD using the CARDIoGRAMplusC4D 1000 Genomes based GWAS case (n = 60,801)-control (n = 123,504) study and on lipids using GLGC (n = 188,577)...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27924908/development-of-novel-noninvasive-prenatal-testing-protocol-for-whole-autosomal-recessive-disease-using-picodroplet-digital-pcr
#15
Mun Young Chang, Ah Reum Kim, Min Young Kim, Soyoung Kim, Jinsun Yoon, Jae Joon Han, Soyeon Ahn, Changsoo Kang, Byung Yoon Choi
We developed a protocol of noninvasive prenatal testing (NIPT), employing a higher-resolution picodroplet digital PCR, to detect genetic imbalance in maternal plasma DNA (mpDNA) caused by cell-free fetal DNA (cffDNA). In the present study, this approach was applied to four families with autosomal recessive (AR) congenital sensorineural hearing loss. First, a fraction of the fetal DNA in mpDNA was calculated. Then, we made artificial DNA mixtures (positive and negative controls) to simulate mpDNA containing the fraction of cffDNA with or without mutations...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27924851/senescence-novel-insight-into-dlx3-mutations-leading-to-enhanced-bone-formation-in-tricho-dento-osseous-syndrome
#16
Na Zhao, Dong Han, Haochen Liu, Yue Li, Sing-Wai Wong, Zhengyi Cao, Jian Xu, Xiaowei Zhang, Tao Cai, Yixiang Wang, Hailan Feng
The homeodomain transcription factor distal-less homeobox 3 gene (DLX3) is required for hair, tooth and skeletal development. DLX3 mutations have been found to be responsible for Tricho-Dento-Osseous (TDO) syndrome, characterized by kinky hair, thin-pitted enamel and increased bone density. Here we show that the DLX3 mutation (c.533 A>G; Q178R) attenuates osteogenic potential and senescence of bone mesenchymal stem cells (BMSCs) isolated from a TDO patient, providing a molecular explanation for abnormal increased bone density...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27924642/development-of-an-rt-qpcr-assay-for-the-specific-detection-of-a-distinct-genetic-lineage-of-the-infectious-bursal-disease-virus
#17
Gonzalo Tomás, Martín Hernández, Ana Marandino, Claudia Techera, Sofia Grecco, Diego Hernández, Alejandro Banda, Yanina Panzera, Ruben Pérez
The infectious bursal disease virus (IBDV) is a major health threat to the world's poultry industry despite intensive controls including proper biosafety practices and vaccination. IBDV (Avibirnavirus, Birnaviridae) is a non-enveloped virus with a bisegmented double-stranded RNA genome. The virus is traditionally classified into classic, variant and very virulent strains, each with different epidemiological relevance and clinical implications. Recently, a novel worldwide spread genetic lineage was described and denoted as distinct (d) IBDV...
December 7, 2016: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/27924572/isolation-of-mouse-embryonic-stem-cell-lines-in-the-study-of-erk1-2-map-kinase-signaling
#18
Marc K Saba-El-Leil, Christophe Frémin, Sylvain Meloche
Mouse embryonic stem (ES) cells have proven to be invaluable research tools for dissecting the role of signaling pathways in embryonic development, adult physiology, and various diseases. ES cells are amenable to genetic manipulation by classical gene targeting via homologous recombination or by genome editing technologies. These cells can be used to generate genetically modified mouse models or to study the signaling circuitry regulating self-renewal and early lineage commitment. In this chapter, we describe methods used for the isolation and establishment of mouse ES cell lines from blastocyst embryos and for the measurement of ERK1/2 activity in ES cells...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27924540/targeting-fumonisin-biosynthetic-genes
#19
Robert H Proctor, Martha M Vaughan
The fungus Fusarium is an agricultural problem because it can cause disease on most crop plants and can contaminate crops with mycotoxins. There is considerable variation in the presence/absence and genomic location of gene clusters responsible for synthesis of mycotoxins and other secondary metabolites among species of Fusarium. Here, we describe a quantitative real-time PCR (qPCR) method for distinguishing between and estimating the biomass of two closely related species, F. proliferatum and F. verticillioides, that are pathogens of maize...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27924526/the-p-r151c-polymorphism-in-mc1r-gene-modifies-the-age-of-onset-in-spanish-huntington-s-disease-patients
#20
Gemma Tell-Marti, Joan Anton Puig-Butille, Pol Gimenez-Xavier, Ariadna Segu-Roig, Miriam Potrony, Celia Badenas, Victoria Alvarez, José M Millán, María José Trujillo-Tiebas, María A Ramos-Arroyo, Montserrat Milà, Susana Puig
The expansion of CAG repeats (≥36 CAG) in the HTT gene is the only known genetic cause of Huntington's disease (HD) and the main determinant of the course of the disease. The length of the expanded CAG repeats correlates inversely with the age of onset (AOO) but does not completely determine it. We investigated the role of the melanocortin 1 receptor (MC1R) gene as a modifier factor of AOO in 600 HD patients from Spain. We sequenced the entire region of the MC1R gene and analyzed all the nonsynonymous MC1R genetic variants with a minor allele frequency of at least 0...
December 6, 2016: Molecular Neurobiology
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