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https://www.readbyqxmd.com/read/28926971/mini-review-the-contribution-of-intermediate-phenotypes-to-gxe-effects-on-disorders-of-body-composition-in-the-new-omics-era
#1
REVIEW
Edna J Nava-Gonzalez, Esther C Gallegos-Cabriales, Irene Leal-Berumen, Raul A Bastarrachea
Studies of gene-environment (GxE) interactions describe how genetic and environmental factors influence the risk of developing disease. Intermediate (molecular or clinical) phenotypes (IPs) are traits or metabolic biomarkers that mediate the effects of gene-environment influences on risk behaviors. Functional systems genomics discovery offers mechanistic insights into how DNA variations affect IPs in order to detect genetic causality for a given disease. Disorders of body composition include obesity (OB), Type 2 diabetes (T2D), and osteoporosis (OSTP)...
September 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28926868/polycystic-ovary-syndrome-pcos-in-juvenile-and-adult-type-1-diabetes-in-a-german-austrian-cohort
#2
Christina Reinauer, Esther Bollow, Elke Fröhlich-Reiterer, Katharina Laubner, Dominik Bergis, Christof Schöfl, Hans-Peter Kempe, Michael Hummel, Pia Hennes, Katja Gollisch, Holger Haberland, Nicolin Datz, Thomas Meissner, Reinhard W Holl
Context While an association between PCOS and type 2 diabetes is well established, to date there have been few data on clinical care of type 1 diabetes (T1D) patients with PCOS. Objective The aim of our study was to characterize T1D patients with the comorbidity of PCOS within the DPV cohort with regard to diabetes phenotype, therapy and metabolic control. Design and Setting Clinical data from the prospective German/Austrian DPV cohort on patients with T1D and documented PCOS (n=76) were compared to female T1D controls (n=32,566) in reproductive age...
September 19, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#3
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28926292/vegf-polymorphisms-among-neovascular-age-related-macular-degenerative-subjects-in-a-multiethnic-population
#4
Nur Afiqah Mohamad, Vasudevan Ramachandran, Patimah Ismail, Hazlita Mohd Isa, Yoke Mun Chan, Nor Fariza Ngah, Norshakimah Md Bakri, Siew Mooi Ching, Fan Kee Hoo, Wan Aliaa Wan Sulaiman
AIM: To determine the association of vascular endothelial growth factor (VEGF) polymorphisms with neovascular age-related macular degeneration (nAMD). MATERIALS AND METHODS: One hundred thirty-five nAMD patients and 135 controls were recruited to determine the association of the -460 C/T, the -2549 I/D, and the +405 G/C polymorphisms with the VEGF gene. Genotyping was conducted using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach, and association analyses were conducted using chi-square analysis and logistic regression analysis...
September 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28925940/zebrafish-as-a-model-for-the-study-of-microvascular-complications-of-diabetes-and-their-mechanisms
#5
REVIEW
Karl Heckler, Jens Kroll
Diabetes mellitus (DM) is a crucial metabolic disease that leads to severe disorders. These include macrovascular complications such as myocardial infarction, stroke, and peripheral artery disease and microvascular complications including diabetic nephropathy, neuropathy, and retinopathy. Diabetes mellitus, along with its associated organ pathologies, is one of the key problems in today's medicine. Zebrafish is an upcoming disease model organism in diabetes research. Its glucose metabolism and the pathways of reactive metabolite formation are very similar to those of humans...
September 19, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28920418/myogenic-satellite-cells-differentiation-with-linolenic-and-retinoic-and-thiazolidenediones-from-prepubertal-korean-black-goat
#6
Sugathan Subi, Sungjin Lee, Supriya Shiwani, Naresh Kumar Singh
Objective: Myogenic satellite cells were isolated from semitendinosus muscle of prepubertal Korean black goat to observe the differential effect of linolenic and retinoic acid in thepresence of thiazolidinediones and also to observe the production insulin sensitive preadipocyte. Methods: Cells were characterized for its stemness with CD 34, CD 13, CD 106, CD44, Vimentin surface markers using flow cytometry. Cells characterized themselves to possess significant (p<0...
September 18, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28919193/association-analysis-of-genetic-variants-with-metabolic-syndrome-components-in-the-moroccan-population
#7
F Lakbakbi El Yaagoubi, H Charoute, I Morjane, H Sefri, H Rouba, A Ainahi, M Kandil, H Benrahma, A Barakat
This study aimed to analyze the association between UBE2E2, G6PC2, PROX1, DUSP9, ADCY5 and APOC3 polymorphisms and the risk of metabolic syndrome (MetS) in Moroccan patients. The study was applied on 316 unrelated individuals from Morocco, 177 MetS patients and 139 controls. The metabolic syndrome was diagnosed according to the International Diabetes Federation (IDF) criteria. All subjects were genotyped for the following polymorphisms: rs7612463 (UBE2E2), rs560887 (G6PC2), rs340874 (PROX1), rs5945326 (DUSP9), rs11708067 (ADCY5) and rs5128 (APOC3) using TaqMan allelic discrimination assay and PCR-RFLP...
September 11, 2017: Current Research in Translational Medicine
https://www.readbyqxmd.com/read/28919064/genetics-of-obesity-what-genetic-association-studies-have-taught-us-about-the-biology-of-obesity-and-its-complications
#8
REVIEW
Mark O Goodarzi
Genome-wide association studies (GWAS) for BMI, waist-to-hip ratio, and other adiposity traits have identified more than 300 single-nucleotide polymorphisms (SNPs). Although there is reason to hope that these discoveries will eventually lead to new preventive and therapeutic agents for obesity, this will take time because such developments require detailed mechanistic understanding of how an SNP influences phenotype (and this information is largely unavailable). Fortunately, absence of functional information has not prevented GWAS findings from providing insights into the biology of obesity...
September 14, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28918587/genome-wide-association-studies-of-albuminuria-towards-genetic-stratification-in-diabetes
#9
REVIEW
Cristian Pattaro
Genome-wide association studies (GWAS) have been very successful in unraveling the polygenic structure of several complex diseases and traits. In the case of albuminuria, despite the large sample size achieved by some studies, results look sparse with a limited number of loci reported so far. This review searched for GWAS studies of albumin excretion, albuminuria, and proteinuria. The resulting picture sets elements of uniqueness for albuminuria GWAS with respect to other complex traits. So far, very few loci associated with albuminuria have been validated by means of genome-wide significant evidence or formal replication...
September 16, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28917077/pancreatic-%C3%AE-cells-and-type-2-diabetes-development
#10
Miranda-Perez Maria Elizabeth, Alarcon-Aguilar, Francisco J, Ortega-Camarillo Clara, Escobar-Villanueva, Maria Del Carmen
Diabetes mellitus (DM) is a group of metabolic disorders characterized by hyperglycemia. In particular, type 2 diabetes (T2D) represents one of the main causes of death in the world, and those suffering from it have a lower quality of life. Although there are multiple hypotheses about the pathophysiological mechanisms that lead to the development of T2D, the effects of this pathology on pancreatic β-cells are often ignored. We now know that in addition to genetic defects, β-cell organellar dysfunction participates in the earliest stages of the disease; other factors also contribute to this dysfunction, such as excessive production of reactive oxygen species and a decrease in cellular volume and mass...
2017: Current Diabetes Reviews
https://www.readbyqxmd.com/read/28916781/6-bromo-indirubin-3-oxime-6bio-a-glycogen-synthase-kinase-3%C3%AE-inhibitor-activates-cytoprotective-cellular-modules-and-suppresses-cellular-senescence-mediated-biomolecular-damage-in-human-fibroblasts
#11
Aimilia D Sklirou, Nicolas Gaboriaud-Kolar, Issidora Papassideri, Alexios-Leandros Skaltsounis, Ioannis P Trougakos
As genetic interventions or extended caloric restriction cannot be applied in humans, many studies have been devoted to the identification of natural products that can prolong healthspan. 6-bromoindirubin-3'-oxime (6BIO), a hemi-synthetic derivative of indirubins found in edible mollusks and plants, is a potent inhibitor of Glycogen synthase kinase 3β (Gsk-3β). This pleiotropic kinase has been implicated in various age-related diseases including tumorigenesis, neurodegeneration and diabetes. Accordingly, 6BIO has shown anti-tumor and anti-neurodegenerative activities; nevertheless, the potential role of 6BIO in normal human cells senescence remains largely unknown...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28916564/modulation-of-the-gut-microbiome-a-systematic-review-of-the-effect-of-bariatric-surgery
#12
Yan Guo, Zhi-Ping Huang, Chao-Qian Liu, Lin Qi, Yuan Sheng, Da-Jin Zou
OBJECTIVE: Bariatric surgery is recommended for patients with obesity and type 2 diabetes. Recent evidence suggested a strong connection between gut microbiota and bariatric surgery. DESIGN: Systematic review. METHODS: The PubMed and OVID Embase were used and articles concerning bariatric surgery and gut microbiota were screened. The main outcome measures were alterations of gut microbiota after bariatric surgery and correlations between gut microbiota and host metabolism...
September 15, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28916390/il-33-receptor-st2-deficiency-attenuates-renal-ischaemia-reperfusion-injury-in-euglycaemic-but-not-streptozotocin-induced-hyperglycaemic-mice
#13
M Sehnine, M Ferhat, S Sena, J M Gombert, J M Goujon, A Thierry, G Touchard, T Hauet, A Herbelin, S Hadjadj
AIM: Kidney hypoxia can predispose to the development of acute and chronic renal failure in diabetes. Ischaemia-reperfusion injury (IRI) causes inflammation, and diabetes is known to exacerbate this inflammatory response in the kidney, whereas alarmin IL-33 could act as an innate immune mediator during kidney IRI. Thus, the present study examined the impact of genetic IL-33 receptor ST2 deficiency (ST2-/-) on renal IRI in euglycaemic and hyperglycaemic mice. METHODS: Hyperglycaemia was induced with streptozotocin (STZ) in adult male C57BL/6JRj wild-type (WT) mice and ST2-/- mice...
September 12, 2017: Diabetes & Metabolism
https://www.readbyqxmd.com/read/28915137/xenoislets-porcine-pancreatic-islets-for-the-treatment-of-type-i-diabetes
#14
Nizar I Mourad, Pierre Rene Gianello
PURPOSE OF REVIEW: Porcine islets are being extensively investigated as alternative sources of insulin-secreting cells for transplantation in insulin-dependent diabetic patients. The present review focuses on recent advances in porcine islet transplantation with particular emphasis on new transgenic pig models, islet encapsulation, and biosafety considerations. RECENT FINDINGS: Genetic modifications aimed to reduce islet cell immunogenicity, to prolong their survival, and to improve their secretory function have been reported...
September 14, 2017: Current Opinion in Organ Transplantation
https://www.readbyqxmd.com/read/28915118/delayed-diagnosis-of-proopiomelanocortin-pomc-deficiency-with-type-1-diabetes-in-a-9-year-old-girl-and-her-infant-sibling
#15
Elif Ozsu, Allison Bahm
BACKGROUND: Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair. CASE PRESENTATION: A 9-year-old girl from a consanguineous family of Iraqi origin was diagnosed with type 1 diabetes...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28914637/signal-transducer-and-activator-of-transcription-gain-of-function-primary-immunodeficiency-immunodysregulation-disorders
#16
Filippo Consonni, Laura Dotta, Francesca Todaro, Donatella Vairo, Raffaele Badolato
PURPOSE OF REVIEW: To describe primary immunodeficiencies caused by gain-of-function (GOF) mutations of signal transducer and activator of transcription (STAT) genes, a group of genetically determined disorders characterized by susceptibility to infections and, in many cases, autoimmune manifestations. RECENT FINDINGS: GOF mutations affecting STAT1 result in increased STAT tyrosine phosphorylation and secondarily increased response to STAT1-signaling cytokines, such as interferons...
September 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28914344/influence-of-genetic-co-factors-on-the-population-pharmacokinetic-model-for-clopidogrel-and-its-active-thiol-metabolite
#17
Dorota Danielak, Marta Karaźniewicz-Łada, Anna Komosa, Paweł Burchardt, Maciej Lesiak, Łukasz Kruszyna, Agnieszka Graczyk-Szuster, Franciszek Główka
PURPOSE: A high interindividual variability is observed in the pharmacokinetics of clopidogrel, a widely used antiplatelet drug. In the present study, a joint parent-metabolite population pharmacokinetic model was developed to adequately describe observed concentrations of clopidogrel and its active thiol metabolite (H4). METHODS: The study included 63 patients undergoing elective coronarography or percutaneous coronary intervention. The population pharmacokinetic model was developed in the NONMEM 7...
September 15, 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28914196/ethnic-disparity-and-increased-prevalence-of-type-2-diabetes-among-south-asians-aetiology-and-future-implications-for-diabetes-prevention-and-management
#18
Venugopal Vijayakumar, Ramesh Mavathur, Manjunath Nk Sharma
BACKGROUND: Type 2 diabetes mellitus (T2DM) is turning out to be a global health crisis. Current available literature clearly indicates an increased risk of type 2 diabetes amongst South Asian population. OBJECTIVE: The objective of this narrative review is to explore the non-modifiable and modifiable risk factors of T2DM in South Asian population, including their beliefs, attitudes, socio economic and cultural barriers and also to explore the possible implications in designing culture specific diabetes prevention and management programs...
September 15, 2017: Current Diabetes Reviews
https://www.readbyqxmd.com/read/28914194/diabetic-retinopathy-recent-updates-on-different-biomarkers-and-some-therapeutic-agents
#19
Amjad Ali Khan, Arshad Husain Rahmani, Yousef Homood Aldebasi
BACKGROUND: Diabetic Retinopathy is a leading cause of sight-threatening complication, which occurs due to a number of physiological and metabolic abnormalities during later stages of diabetes. Many of these abnormal changes are consistent with altered oxidative stress, inflammation, genetic set up, advanced glycation end products, and hematological changes. So the altered levels of different biomolecules related to these changes serve as important biomarkers to assess better evaluation and early treatment of this disease...
September 15, 2017: Current Diabetes Reviews
https://www.readbyqxmd.com/read/28912863/a-novel-mutation-in-the-hepatocyte-nuclear-factor-1%C3%AE-gene-in-maturity-onset-diabetes-of-the-young-5-with-multiple-renal-cysts-and-pancreas-hypogenesis-a-case-report
#20
You Lv, Zhuo Li, Kan He, Ying Gao, Xianchao Xiao, Yujia Liu, Guixia Wang
A 17-year-old Chinese male was hospitalized exhibiting hyperglycemia and increased serum urea nitrogen and creatinine levels in addition to weight loss. The patient was treated with gliclazide. The patient was 150 cm tall, weighed 35 kg and had no family history of diabetes or kidney disease. Physical examination revealed cephalus quadratus, rachitic rosary and a visible toe-out gait. Laboratory examinations revealed that the patient's fasting plasma glucose and glycosylated hemoglobin levels were markedly increased, fasting plasma C-peptide level was slightly increased and no peak 2 h postprandial was observed...
October 2017: Experimental and Therapeutic Medicine
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