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https://www.readbyqxmd.com/read/28719815/receptiveness-to-participation-in-genetic-research-a-pilot-study-comparing-views-of-people-with-depression-diabetes-or-no-illness
#1
Laura Weiss Roberts, Jane Paik Kim
BACKGROUND: Genetic research in human health relies on the participation of individuals with or at-risk for different types of diseases, including health conditions that may be stigmatized, such as mental illnesses. This preliminary study examines the differences in attitudes toward participation in genetic research among individuals with a psychiatric disorder, individuals with a physical disorder, and individuals with no known illness. METHODS: Seventy-nine individuals with a history of diabetes or depression, or no known illness, underwent a simulated consent process for a hypothetical genetic research study...
July 4, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28716905/mitoneet-dependent-formation-of-intermitochondrial-junctions
#2
Alexandre Vernay, Anna Marchetti, Ayman Sabra, Tania N Jauslin, Manon Rosselin, Philipp E Scherer, Nicolas Demaurex, Lelio Orci, Pierre Cosson
MitoNEET (mNEET) is a dimeric mitochondrial outer membrane protein implicated in many facets of human pathophysiology, notably diabetes and cancer, but its molecular function remains poorly characterized. In this study, we generated and analyzed mNEET KO cells and found that in these cells the mitochondrial network was disturbed. Analysis of 3D-EM reconstructions and of thin sections revealed that genetic inactivation of mNEET did not affect the size of mitochondria but that the frequency of intermitochondrial junctions was reduced...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28716011/association-study-to-evaluate-tfpi-gene-in-cad-in-han-chinese
#3
Ying Zhao, Yanbo Yu, Maowei Shi, Xi Yang, Xueqi Li, Feng Jiang, Yundai Chen, Xiaoli Tian
BACKGROUND: Tissue factor pathway inhibitor (TFPI) is the main physiological inhibitor of TF-induced blood coagulation process, and may play essential roles in the pathogenesis of major adverse cardiac events. This study was designed to determine whether the variation of TFPI was related with coronary artery disease (CAD) in the Han Chinese populations. METHODS: A total of 1271 patients with coronary atherosclerosis and 1287 normal individuals from northern China were enrolled in the present study...
July 17, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28713862/metabolic-surgery-gastric-bypass-for-the-treatment-of-type-2-diabetes-mellitus
#4
REVIEW
Maria Del Pilar Quevedo, Mariano Palermo, Edgardo Serra, Marianela A Ackermann
Type 2 diabetes mellitus (T2DM) is one of the largest health emergencies of the 21st century given the worldwide increase of obesity during the last decades and its close association. T2DM is an inherited, polygenic and chronic disease caused by the interaction between several genetic variants in genes and the environment. The continuous search for new and more effective tools to achieve appropriate glycemic control became imperative in order to reduce long-term complications and mortality rates related to T2DM...
2017: Translational Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28713835/rapid-detection-of-the-mt3243a%C3%A2-%C3%A2-g-mutation-using-urine-sediment-in-elderly-chinese-type-2-diabetic-patients
#5
Yinan Zhang, Xiujuan Du, Xinqian Geng, Chen Chu, Huijuan Lu, Yixie Shen, Ruihua Chen, Pingyan Fang, Yanmei Feng, Xiaojie Zhang, Yan Chen, Yanping Zhou, Congrong Wang, Weiping Jia
OBJECTIVE: In this study, we aimed to identify mt3243A > G mutation carriers in a group of Chinese elderly type 2 diabetic patients by a rapid and noninvasive diagnostic system. METHODS: DNA was extracted from blood, saliva, and urine sediment samples. The mutation screening and quantitation of heteroplasmy were performed by high-resolution melting (HRM) curve and pyrosequencing, respectively. Patients with mt3243A > G mutation underwent a detailed audiometric, ophthalmologic, neurological, and cardiac examination...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28713269/the-emerging-role-for-zinc-in-depression-and-psychosis
#6
REVIEW
Matthew A Petrilli, Thorsten M Kranz, Karine Kleinhaus, Peter Joe, Mara Getz, Porsha Johnson, Moses V Chao, Dolores Malaspina
Zinc participation is essential for all physiological systems, including neural functioning, where it participates in a myriad of cellular processes. Converging clinical, molecular, and genetic discoveries illuminate key roles for zinc homeostasis in association with clinical depression and psychosis which are not yet well appreciated at the clinical interface. Intracellular deficiency may arise from low circulating zinc levels due to dietary insufficiency, or impaired absorption from aging or medical conditions, including alcoholism...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28712039/cutaneous-manifestations-of-scleroderma-and-scleroderma-like-disorders-a-comprehensive-review
#7
REVIEW
Caterina Ferreli, Giulia Gasparini, Aurora Parodi, Emanuele Cozzani, Franco Rongioletti, Laura Atzori
Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations...
July 16, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28711970/does-a-male-polycystic-ovarian-syndrome-equivalent-exist
#8
REVIEW
R Cannarella, R A Condorelli, L M Mongioì, S La Vignera, A E Calogero
The occurrence of a genetic background in the etiology of polycystic ovarian syndrome (PCOS) represents the rational basis to postulate the existence of a male PCOS equivalent. Hormonal and metabolic abnormalities have been described in male relatives of women with PCOS. These males also have a higher prevalence of early onset (<35 years) androgenetic alopecia (AGA). Hence, this feature has been proposed as a clinical sign of the male PCOS equivalent. Clinical evidence has shown that men with early onset AGA have hormonal and metabolic abnormalities...
July 15, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28711742/microcephaly-with-simplified-gyral-pattern-epilepsy-and-permanent-neonatal-diabetes-syndrome-meds-a-new-patient-and-review-of-the-literature
#9
Irene Valenzuela, Susana Boronat, Elena Martínez-Sáez, María Clemente, Ángel Sánchez-Montañez, Francina Munell, Antonio Carrascosa, Alfons Macaya
Microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS) is a recently described, autosomal recessive-inherited syndrome. We report the case of an infant presenting with lethargy at age five weeks and clinical findings of persistent hyperglycaemia and microcephaly with simplified gyration, suggestive of MEDS. The diagnosis was confirmed by the detection of a known c.233 T > C mutation in the IER3IP1 gene. Only eight cases of MEDS have been reported in the literature...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28711549/a-case-of-hypocholesterolemia-and-steatosis-in-a-carrier-of-a-pcsk9-loss-of-function-mutation-and-polymorphisms-predisposing-to-nonalcoholic-fatty-liver-disease
#10
Mathilde Di Filippo, Benoit Vokaer, Nabil G Seidah
We report a new case of hypobetalipoproteinemia in a 44-year-old man of Peruvian origin exhibiting a heterozygous PCSK9 missense mutation (c.946 G>T, p. Gly316Cys). In vitro functional studies demonstrated that this mutation leads to a loss of function of PCSK9 on low-density lipoprotein receptor degradation. This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, p.Ile148Met (rs738409) and p.Glu167Lys (rs58542926) on PNPLA3 and TM6SF2 gene, respectively, previously shown to be associated with nonalcoholic steatosis and fibrosis evolution...
June 13, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28707298/melatonin-receptors-molecular-pharmacology-and-signaling-in-the-context-of-system-bias
#11
REVIEW
Erika Cecon, Atsuro Oishi, Ralf Jockers
Melatonin, N-acetyl-5-methoxytryptamine, an evolutionally old molecule, is produced by the pineal gland in vertebrates and it binds with high affinity to melatonin receptors, which are members of the G protein-coupled receptor family. Among the multiple effects attributed to melatonin we will focus here on those that are dependent on the activation of the two mammalian MT1 and MT2 melatonin receptors. We briefly summarize the latest developments on synthetic melatonin receptor ligands, including multi-target-directed ligands, and the characterization of signaling-biased ligands...
July 13, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28706613/major-components-of-metabolic-parameters-and-nutritional-intakes-in-different-genotypes-of-adiponectin-276-g-t-gene-polymorphism-in-non-diabetes-and-non-alcoholic-iranian-fatty-liver-patients
#12
Fatemeh Mohseni, Sahar Moghbelinejad, Reza Najafipour
BACKGROUND: Genetic and environmental factors are both involved in the etiology of Non-Alcoholic Fatty Liver Disease (NAFLD). Among the genetic factors, certain polymorphisms of adiponectin gene are associated with NAFLD. In the current study, we investigated the association between metabolic parameters with different genotypes of adiponectin +276 G>T polymorphism among the Iranian NAFLD patients, and the effect of nutritional intake with development of NAFLD. METHODS: In this study, 75 patients with NAFLD and 76 healthy individuals were enrolled...
July 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/28701371/population-based-assessment-of-a-biomarker-based-screening-pathway-to-aid-diagnosis-of-monogenic-diabetes-in-young-onset-patients
#13
Beverley M Shields, Maggie Shepherd, Michelle Hudson, Timothy J McDonald, Kevin Colclough, Jaime Peters, Bridget Knight, Chris Hyde, Sian Ellard, Ewan R Pearson, Andrew T Hattersley
OBJECTIVE: Monogenic diabetes, a young-onset form of diabetes, is often misdiagnosed as type 1 diabetes, resulting in unnecessary treatment with insulin. A screening approach for monogenic diabetes is needed to accurately select suitable patients for expensive diagnostic genetic testing. We used C-peptide and islet autoantibodies, highly sensitive and specific biomarkers for discriminating type 1 from non-type 1 diabetes, in a biomarker screening pathway for monogenic diabetes. RESEARCH DESIGN AND METHODS: We studied patients diagnosed aged 30 years or younger, currently younger than 50 years, in two U...
July 12, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28700623/utilization-of-genetic-data-can-improve-the-prediction-of-type-2-diabetes-incidence-in-a-swedish-cohort
#14
Hadi Zarkoob, Sarah Lewinsky, Peter Almgren, Olle Melander, Hossein Fakhrai-Rad
The aim of this study was to measure the impact of genetic data in improving the prediction of type 2 diabetes (T2D) in the Malmö Diet and Cancer Study cohort. The current study was performed in 3,426 Swedish individuals and utilizes of a set of genetic and environmental risk data. We first validated our environmental risk model by comparing it to both the Finnish Diabetes Risk Score and the T2D risk model derived from the Framingham Offspring Study. The area under the curve (AUC) for our environmental model was 0...
2017: PloS One
https://www.readbyqxmd.com/read/28699988/type-2-diabetes-associated-genetic-variants-of-fto-lepr-pparg-and-tcf7l2-in-gestational-diabetes-in-a-brazilian-population
#15
Mauren Isfer Anghebem-Oliveira, Bruna Rodrigues Martins, Dayane Alberton, Edneia Amancio de Souza Ramos, Geraldo Picheth, Fabiane Gomes de Moraes Rego
Objective: Gestational diabetes mellitus (GDM) is a metabolic disorder that shares pathophysiologic features with type 2 diabetes mellitus. The aim of this study was to investigate the association of the polymorphisms fat mass and obesity-associated (FTO) rs1421085, leptin receptor (LEPR) rs1137100, rs1137101, peroxisome proliferator-activated receptor gamma (PPARg) rs1801282, and transcription factor 7-like 2 (TCF7L2) rs7901695 with GDM. Subjects and methods: 252 unrelated Euro-Brazilian pregnant women were classified into two groups according to the 2015 criteria of the American and Brazilian Diabetes Association: healthy pregnant women (n = 125) and pregnant women with GDM (n = 127), matched by age...
May 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28699639/loss-of-mtorc1-signalling-impairs-%C3%AE-cell-homeostasis-and-insulin-processing
#16
Manuel Blandino-Rosano, Rebecca Barbaresso, Margarita Jimenez-Palomares, Nadejda Bozadjieva, Joao Pedro Werneck-de-Castro, Masayuki Hatanaka, Raghavendra G Mirmira, Nahum Sonenberg, Ming Liu, Markus A Rüegg, Michael N Hall, Ernesto Bernal-Mizrachi
Deregulation of mTOR complex 1 (mTORC1) signalling increases the risk for metabolic diseases, including type 2 diabetes. Here we show that β-cell-specific loss of mTORC1 causes diabetes and β-cell failure due to defects in proliferation, autophagy, apoptosis and insulin secretion by using mice with conditional (βraKO) and inducible (MIP-βraKO(f/f)) raptor deletion. Through genetic reconstitution of mTORC1 downstream targets, we identify mTORC1/S6K pathway as the mechanism by which mTORC1 regulates β-cell apoptosis, size and autophagy, whereas mTORC1/4E-BP2-eIF4E pathway regulates β-cell proliferation...
July 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/28698285/therapeutic-antibody-targeting-of-notch3-signaling-prevents-mural-cell-loss-in-cadasil
#17
Arturo I Machuca-Parra, Alexander A Bigger-Allen, Angie V Sanchez, Anissa Boutabla, Jonathan Cardona-Vélez, Dhanesh Amarnani, Magali Saint-Geniez, Christian W Siebel, Leo A Kim, Patricia A D'Amore, Joseph F Arboleda-Velasquez
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a neurological syndrome characterized by small vessel disease (SVD), stroke, and vascular cognitive impairment and dementia caused by mutations in NOTCH3 No therapies are available for this condition. Loss of mural cells, which encompass pericytes and vascular smooth muscle cells, is a hallmark of CADASIL and other SVDs, including diabetic retinopathy, resulting in vascular instability. Here, we showed that Notch3 signaling is both necessary and sufficient to support mural cell coverage in arteries using genetic rescue in Notch3 knockout mice...
July 11, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28698188/a-dab2ip-genotype-sex-interaction-is-associated-with-abdominal-aortic-aneurysm-expansion
#18
Zi Ye, Erin Austin, Daniel J Schaid, Kent R Bailey, Patricia A Pellikka, Iftikhar J Kullo
A faster expansion rate of abdominal aortic aneurysm (AAA) increases the risk of rupture. Women are at higher risk of rupture than men, but the mechanisms underlying this increased risk are unknown. We investigated whether genetic variants that influence susceptibility for AAA (CDKN2A-2B, SORT1, DAB2IP, LRP1 and LDLR) are associated with AAA expansion and whether these associations differ by sex in 650 patients with AAA (mean age 70±8 years, 17% women) enrolled in the Mayo Clinic Vascular Disease Biorepository...
July 11, 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/28698040/role-of-class-ii-p-fimbriae-and-cytokine-response-in-the-pathogenesis-of-escherichia-coli-kidney-infection-in-diabetic-mice
#19
Chin-Chung Tseng, Ming-Cheng Wang, Wei-Hung Lin, I-Chuang Liao, Wen-Chung Chen, Ching-Hao Teng, Jing-Jou Yan, An-Bang Wu, Jiunn-Jong Wu
BACKGROUND: The role of class II P fimbriae (P fimbriae II) in diabetic kidney infections is uncertain, although some genetic and epidemiological studies suggest a lower prevalence of P fimbriae II genes in Escherichia coli strains isolated from diabetic patients with complicated kidney infections. METHODS: We inoculated a P fimbriae II deficient E. coli (DH5αT) or an isogenic P fimbriae II expressing transformant (DH5αTP) into the bladders of diabetic and non-diabetic BALB/C mice, and sacrificed them after 3 days...
June 29, 2017: Journal of Microbiology, Immunology, and Infection, Wei Mian Yu Gan Ran za Zhi
https://www.readbyqxmd.com/read/28695611/prediction-of-type-1-diabetes-using-a-genetic-risk-model-in-the-diabetes-autoimmunity-study-in-the-young
#20
Brigitte I Frohnert, Michael Laimighofer, Jan Krumsiek, Fabian J Theis, Christiane Winkler, Jill M Norris, Anette-Gabriele Ziegler, Marian J Rewers, Andrea K Steck
BACKGROUND: Genetic predisposition for type 1 diabetes (T1D) is largely determined by human leukocyte antigen (HLA) genes; however, over 50 other genetic regions confer susceptibility. We evaluated a previously reported 10-factor weighted model derived from the Type 1 Diabetes Genetics Consortium to predict the development of diabetes in the Diabetes Autoimmunity Study in the Young (DAISY) prospective cohort. Performance of the model, derived from individuals with first-degree relatives (FDR) with T1D, was evaluated in DAISY general population (GP) participants as well as FDR subjects...
July 11, 2017: Pediatric Diabetes
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