المؤلفون: Doua Khalid Al Homyani, MD, Lina Al Homaiani, MD

المصدر: AACE Clinical Case Reports, Vol 10, Iss 1, Pp 7-9 (2024)

مصطلحات موضوعية: Neonatal diabetes, INS gene, Diabetic Ketoacidosis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2376060523001451; https://doaj.org/toc/2376-0605

URL الوصول: https://doaj.org/article/5669ec59cbc94605804f20490cac68a6

المؤلفون: Rossana Ruiz-Urbaez, Mariela Viviana Villagómez-Estrada, Carlos Reyes-Silva, Darlyng Quishpe-López, David Males-Maldonado, Jorge Salazar-Vega, Enrique Gea-Izquierdo

المصدر: Medicina, Vol 60, Iss 5, p 830 (2024)

مصطلحات موضوعية: maturity-onset diabetes of the young (MODY), INS gene, nephropathy, retinopathy, hypogonadism, Medicine (General), R5-920

Relation: https://www.mdpi.com/1648-9144/60/5/830; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144; https://doaj.org/article/123e6da348c043b6ab6a889210b3cf23

الاتاحة: https://doi.org/10.3390/medicina60050830
https://doaj.org/article/123e6da348c043b6ab6a889210b3cf23

المؤلفون: Yu. V. Tikhonovich, E. E. Petryaykina, A. V. Timofeev, N. A. Zubkova, A. A. Kolodkina, E. L. Sorkina, E. V. Vasiliev, V. M. Petrov, E. A. Andrianova, L. I. Zilberman, G. N. Svetlova, A. L. Кalinin, P. M. Rubtsov, S. L. Кiselev, A. V. Panova, E. V. Shreder, T. S. Krasnova, B. P. Kulieva, I. V. Gariaeva, I. G. Rybkina, O. A. Malievskiy, A. N. Tyulpakov

المصدر: Сахарный диабет, Vol 24, Iss 5, Pp 414-421 (2022)

مصطلحات موضوعية: neonatal diabetes mellitus, monogenic diabetes mellitus, mody10, ins gene, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: https://www.dia-endojournals.ru/jour/article/view/12737; https://doaj.org/toc/2072-0351; https://doaj.org/toc/2072-0378

URL الوصول: https://doaj.org/article/c8fca7154b1248a094e058083772590f

المؤلفون: Ryznychuk M., Kretsu T., Dmitruk V., Ariychuk N., Kostiv M.

المصدر: The scientific heritage, 125, 32-34, (2023-11-23)

مصطلحات موضوعية: permanent diabetes, INS gene mutation

Relation: https://doi.org/10.5281/zenodo.10199754; https://doi.org/10.5281/zenodo.10199755; oai:zenodo.org:10199755

الاتاحة: https://doi.org/10.5281/zenodo.10199755

المؤلفون: TM Archana, K Soumya, Jesna James, Sudheesh Sudhakaran

المصدر: Clinical Phytoscience, Vol 7, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Anacardium occidentale, Pancreatic β-cells, INS gene, High glucose-induced oxidative stress, qRT PCR, Medicine, Homeopathy, RX1-681

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2199-1197

URL الوصول: https://doaj.org/article/26e79547dadc43db80f204703b6e3ef2

المؤلفون: Can Thi Bich Ngoc, Vu Chi Dung, Elisa De Franco, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Nguyen Huy Hoang, Tran Minh Dien

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: diabetes mellitus in infants, INS mutations, neonatal diabetes mellitus, neonatal diabetes mellitus in Vietnamese infants, outcomes in infants with INS gene mutations, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.866573/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/e52db62c09124980810fa53d5aa4d7f4

المؤلفون: Ying Yang, Hua Shu, Jingxin Hu, Lei Li, Jianyu Wang, Tingting Chen, Jinyang Zhen, Jinhong Sun, Wenli Feng, Yi Xiong, Yumeng Huang, Xin Li, Kai Zhang, Zhenqian Fan, Hui Guo, Ming Liu

المصدر: Frontiers in Endocrinology, Vol 12 (2022)

مصطلحات موضوعية: INS gene, mutation, diabetes, preproinsulin, translocation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2021.774634/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/f181a580e0754ad58bd5fd01e9edebaa

المؤلفون: Al-Sultany, Fadia ‎ H., Al- Saadi ‎, Ali H., Al-Husainy, Ibtihal M

المصدر: مجلة جامعة بابل - للعلوم الصرفه والتطبيقية; مجلد 26 عدد 4 (2018); 75-93 ; JOURNAL OF UNIVERSITY OF BABYLON for Pure and Applied Sciences; Vol. 26 No. 4 (2018); 75-93 ; 2312-8135 ; 1992-0652

مصطلحات موضوعية: up-regulation‎, hepatic INS Gene‎, INSR gene‎, pancreas INS Gene‎, histological sections of pancrease and liver, Cuscuta chinesis Lam, type 1 diabetic rat, جين الانسولين في الكبد، جين الانسولين في البنكرياس، داء السكري النوع الاول

وصف الملف: application/pdf

Relation: https://www.journalofbabylon.com/index.php/JUBPAS/article/view/687/515; https://www.journalofbabylon.com/index.php/JUBPAS/article/view/687

الاتاحة: https://www.journalofbabylon.com/index.php/JUBPAS/article/view/687
https://doi.org/10.29196/jub.v26i4.687

المؤلفون: Ying Yang (24175), Hua Shu (136087), Jingxin Hu (11907080), Lei Li (29537), Jianyu Wang (3808567), Tingting Chen (111216), Jinyang Zhen (11907083), Jinhong Sun (11907086), Wenli Feng (403001), Yi Xiong (142047), Yumeng Huang (591166), Xin Li (51274), Kai Zhang (102844), Zhenqian Fan (11907089), Hui Guo (110581), Ming Liu (105953)

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, INS gene, mutation, diabetes, preproinsulin, translocation

Relation: https://figshare.com/articles/dataset/DataSheet_1_A_Novel_Nonsense_INS_Mutation_Causes_Inefficient_Preproinsulin_Translocation_Into_the_Endoplasmic_Reticulum_docx/17871434

الاتاحة: https://doi.org/10.3389/fendo.2021.774634.s001

المؤلفون: Can Thi Bich Ngoc, Vu Chi Dung, Elisa De Franco, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Nguyen Huy Hoang, Tran Minh Dien

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, diabetes mellitus in infants, INS mutations, neonatal diabetes mellitus, neonatal diabetes mellitus in Vietnamese infants, outcomes in infants with INS gene mutations

Relation: https://figshare.com/articles/dataset/DataSheet_1_Genetic_Etiology_of_Neonatal_Diabetes_Mellitus_in_Vietnamese_Infants_and_Characteristics_of_Those_With_INS_Gene_Mutations_docx/19615290

الاتاحة: https://doi.org/10.3389/fendo.2022.866573.s001
https://figshare.com/articles/dataset/DataSheet_1_Genetic_Etiology_of_Neonatal_Diabetes_Mellitus_in_Vietnamese_Infants_and_Characteristics_of_Those_With_INS_Gene_Mutations_docx/19615290

مصطلحات موضوعية: моногенний діабет, Monogenic diabetes, мутація гена INS, INS-gene mutation, Neonatal diabetes, неонатальний діабет

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f9ddfb85d557d34100358c4aa8816eb1

المؤلفون: Iafusco D, Massa O, Pasquino B, Colombo C, Bizzarri C, Mammì C, Lo Presti D, Suprani T, Schiaffini R, Nichols CG, Russo L, Grasso V, Meschi F, Bonfanti R, Brescianini S, Barbetti F., IUGHETTI, Lorenzo

المساهمون: Iafusco, D, Massa, O, Pasquino, B, Colombo, C, Iughetti, Lorenzo, Bizzarri, C, Mammì, C, Lo Presti, D, Suprani, T, Schiaffini, R, Nichols, Cg, Russo, L, Grasso, V, Meschi, F, Bonfanti, R, Brescianini, S, Barbetti, F.

مصطلحات موضوعية: KCNJ11 gene, ABCC8 gene, INS gene, neonatal diabetes

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21953423; info:eu-repo/semantics/altIdentifier/wos/WOS:000309545800012; volume:49; issue:5; firstpage:405; lastpage:408; journal:ACTA DIABETOLOGICA; http://hdl.handle.net/11380/926708; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84867988456

الاتاحة: http://hdl.handle.net/11380/926708
https://doi.org/10.1007/s00592-011-0331-8

المؤلفون: Fadia H. Al-Sultany, Ibtihal M Al-Husainy, Ali H. Al Saadi

المصدر: Journal of University of Babylon, Vol 26, Iss 4 (2018)

مصطلحات موضوعية: 0106 biological sciences, medicine.medical_specialty, up-regulation‎, pancreas INS Gene‎, 01 natural sciences, Downregulation and upregulation, Internal medicine, Gene expression, medicine, lcsh:Science, Insulin Gene, biology, Cuscuta chinesis Lam, Insulin Receptor Gene, hepatic INS Gene‎, biology.organism_classification, 0104 chemical sciences, histological sections of pancrease and liver, 010404 medicinal & biomolecular chemistry, Endocrinology, lcsh:Q, Cuscuta, INSR gene‎, lcsh:L, 010606 plant biology & botany, lcsh:Education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b153a935e28d75eb567a118582afd03
https://journalofbabylon.com/index.php/JUB/article/view/687

المؤلفون: Millership, S, Da Silva Xavier, G, Choudhury, A, Bertazzo, S, Chabosseau, PL, Pedroni, SMA, Irvine, E, Montoya, A, Faull, P, Taylor, WR, Kerr-Conte, J, Pattou, F, Ferrer, J, Christian, M, John, RM, Latreille, M, Liu, M, Rutter, G, Scott, J, Withers, DJ

المساهمون: Wellcome Trust, Medical Research Council, Medical Research Council (MRC), MRC Programme Grant, INNOVATIVE MEDICINES INITIATIVE, Diabetes UK, Biotechnology and Biological Sciences Research Council (BBSRC), The Royal Society, European Foundation for the Study of Diabetes, Sun Pharmaceutical Industries Limited

مصطلحات موضوعية: Immunology, ENDOPLASMIC-RETICULUM, PROTEIN, Mice, Transgenic, Nerve Tissue Proteins, Research & Experimental Medicine, SACCHAROMYCES-CEREVISIAE, Mice, Insulin-Secreting Cells, Insulin Secretion, Genetics, Insulin, Animals, 11 Medical and Health Sciences, GENE-EXPRESSION, Science & Technology, INS GENE, MUTATIONS, Diabetes, Beta cells, Membrane Proteins, Cell Biology, METABOLIC STATUS, Glucose, Medicine, Research & Experimental, Gene Expression Regulation, SIGNAL PEPTIDASE COMPLEX, MEMBRANE TOPOLOGY, Life Sciences & Biomedicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1032::ba8393e047bb4d9f3759bee46600c0c1
http://hdl.handle.net/10044/1/60230

المؤلفون: Arunagiri, Anoop, Haataja, Leena, Cunningham, Corey N., Shrestha, Neha, Tsai, Billy, Qi, Ling, Liu, Ming, Arvan, Peter

مصطلحات موضوعية: Mutant INS gene–induced Diabetes of Youth, MIDY, protein aggregation, endoplasmic reticulum stress, ER, disulfide mispairing, secretory protein synthesis, ER‐associated degradation, Science (General), Science

وصف الملف: application/pdf

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Endoplasmic reticulum stress response in an INS‐1 pancreatic beta‐cell line with inducible expression of a folding‐deficient proinsulin. BMC Cell Biol. 11: 59.; Zhang, X., Q. Yuan, W. Tang, et al. 2011. Substrate‐favored lysosomal and proteasomal pathways participate in the normal balance control of insulin precursor maturation and disposal in β‐cells. PLoS One 6: e27647.; Hoelen, H., A. Zaldumbide, W.F. van Leeuwen, et al. 2015. Proteasomal degradation of proinsulin requires Derlin‐2, HRD1 and p97. PLoS One 10: e0128206.; Kobayashi, T., S. Ogawa, T. Yura, et al. 2000. Abundant expression of 150‐kDa oxygen‐regulated protein in mouse pancreatic beta cells is correlated with insulin secretion. Biochem. Biophys. Res. Commun. 267: 831 – 837.; Jung, H.S., K.W. Chung, J. Won Kim, et al. 2008. Loss of autophagy diminishes pancreatic beta cell mass and function with resultant hyperglycemia. Cell Metab. 8: 318 – 324.; Bachar‐Wikstrom, E., J.D. Wikstrom, Y. Ariav, et al. 2013. 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Taylor, S.‐L. Tan, et al. 2003. When translation meets metabolism: multiple links to diabetes. Endocr. Rev. 24: 91 – 101.; Julier, C. & M. Nicolino. 2010. Wolcott–Rallison syndrome. Orphanet J. Rare Dis. 5: 29.; Harding, H.P., Y. Zhang, H. Zeng, et al. 2003. An integrated stress response regulates amino acid metabolism and resistance to oxidative stress. Mol. Cell 11: 619 – 633.; Scheuner, D., D. Vander Mierde, B. Song, et al. 2005. Control of mRNA translation preserves reticulum function in beta cells and maintains glucose homeostasis. Nat. Med. 11: 757 – 764.; Scheuner, D., B. Song, E. McEwen, et al. 2001. Translational control is required for the unfolded protein response and in vivo glucose homeostasis. Mol. Cell 7: 1165 – 1176.; Back, S.H., D. Scheuner, J. Han, et al. 2009. Translation attenuation through eIF2alpha phosphorylation prevents oxidative stress and maintains the differentiated state in beta cells. Cell Metab. 10: 13 – 26.; Alarcon, C., B.B. Boland, Y. 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SDF2L1 interacts with the ER‐associated degradation machinery and retards the degradation of mutant proinsulin in pancreatic beta‐cells. J. Cell Sci. 126: 1962 – 1968.; Goodchild, R.E. & W.T. Dauer. 2005. The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. J. Cell Biol. 168: 855 – 862.; Xu, T., L. Yang, C. Yan, et al. 2014. The IRE1α–XBP1 pathway regulates metabolic stress‐induced compensatory proliferation of pancreatic β‐cells. Cell Res. 24: 1137 – 1140.; Tsuchiya, Y., M. Saito & K. Kohno. 2016. Pathogenic mechanism of diabetes development due to dysfunction of unfolded protein response. Yakugaku Zasshi 136: 817 – 825.; Lee, A.H., K. Heidtman, G.S. Hotamisligil, et al. 2011. Dual and opposing roles of the unfolded protein response regulated by IRE1alpha and XBP1 in proinsulin processing and insulin secretion. Proc. Natl. Acad. Sci. USA 108: 8885 – 8890.; Usui, M., S. Yamaguchi, Y. Tanji, et al. 2012. 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الاتاحة: https://hdl.handle.net/2027.42/143748
https://doi.org/10.1111/nyas.13531

المؤلفون: Sophie Gumbert, C. Otzdorff, Stefan Bauersachs, Jerzy Adamski, Barbara Albl, Marco Rosati, Alessandra Palladini, Eckhard Wolf, Andreas Jung, Kaspar Matiasek, Mattias Backman, Birte Rieseberg, Arne Hinrichs, Mathias Ritzmann, Miriam Leipig-Rudolph, Kilian Simmet, Caroline Eberle, Manuel Nicolas Saucedo, Stefan Krebs, Simone Renner, Robert Fux, Alexandra Rieger, Elisabeth Streckel, Serena Haesner, Christina Braun-Reichhart, Judith Steinmetz, Birgit Rathkolb, Christian Simmet, Ünal Coskun, Cornelia Prehn, Andreas Brühschwein, Erica De Monte, Helmut Blum, Nicole Übel, Martin Hrabě de Angelis, Andreas Blutke, Hazal Öztürk, Andrea Bähr, Frauke Groth, Florian Flenkenthaler, Elisabeth Kemter, Rüdiger Wanke, Thomas Fröhlich, Daniela Emrich, Michal Grzybek, Anna Schleicher, Cornelia A. Deeg, Michaela Dmochewitz, Mayuko Kurome, Andrea Meyer-Lindenberg, H.-D. Reichenbach, Georg J. Arnold, Antonia Heitmann, Patrizia Zehetmaier, M. Reichenbach, Marlon R. Schneider, Erik Ländström, Barbara Keßler

المصدر: Molecular Metabolism
Mol. Metab. 6, 931-940 (2017)
Molecular Metabolism, 6 (8)
Molecular Metabolism, Vol 6, Iss 8, Pp 931-940 (2017)

مصطلحات موضوعية: 0301 basic medicine, Proteomics, Swine, medicine.medical_treatment, Stereology, CPT1, carnitine O-palmitoyltransferase 1, Bioinformatics, MIDY, Random systematic sampling, PC, phosphatidylcholine, 0302 clinical medicine, Germany, Insulin, FFA, free fatty acids, Hyperglycemia, Biobank, Metabolomics, Pig model, Insulin insufficiency, Transcriptomics, Body Fluids, Female, FFA - Free fatty acids, lcsh:Internal medicine, TAG, triacylglycerol, 030209 endocrinology & metabolism, Tissue Banks, Brief Communication, CE, cholesterol ester, ER, endoplasmic reticulum, 03 medical and health sciences, Diabetes mellitus, medicine, Animals, lcsh:RC31-1245, Molecular Biology, PCA, principal component analysis, SM, sphingomyelin, business.industry, Cell Biology, medicine.disease, WT, wild-type, Disease Models, Animal, 030104 developmental biology, Diabetes Mellitus, Type 2, MIDY, mutant INS gene-induced diabetes of youth, Insulin Insufficiency, Midy, Pig Model, Random Systematic Sampling, business

وصف الملف: application/pdf; application/application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88b1481c9a2871b73b2f44f0fbd847be

المؤلفون: Piccini, Barbara, Artuso, Rosangela, Lenzi, Lorenzo, Guasti, Monica, Braccesi, Giulia, Barni, Federica, Casalini, Emilio, GIGLIO, SABRINA RITA, Toni, Sonia

المساهمون: Piccini, Barbara, Artuso, Rosangela, Lenzi, Lorenzo, Guasti, Monica, Braccesi, Giulia, Barni, Federica, Casalini, Emilio, Giglio, SABRINA RITA, Toni, Sonia

مصطلحات موضوعية: Children, Monogenic diabete, Next generation sequencing, β-Cell, Maturity-Onset Diabetes of the Young (MODY), Insulin (INS) gene, Next generation sequencing (NGS), MODY3/HNF1α gene, Type 1 diabetes mellitu, Type 2 diabetes mellitus

Relation: info:eu-repo/semantics/altIdentifier/pmid/27659712; info:eu-repo/semantics/altIdentifier/wos/WOS:000388283500008; volume:59; issue:11; firstpage:590; lastpage:595; numberofpages:6; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11584/298088; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84994300010

الاتاحة: http://hdl.handle.net/11584/298088
https://doi.org/10.1016/j.ejmg.2016.09.016

المؤلفون: Russo L, Iafusco D, Brescianini S, Nocerino V, Bizzarri C, Toni S, Monciotti C, Pesavento R, Iughetti L, Bernardini L, Bonfanti R, Gargantini L, Vanelli M, Aguilar Bryan L, Stazi MA, Grasso V, Colombo C, Barbetti F, the ISPED Early Diabetes Study Group, CERUTTI, Franco

المساهمون: Russo L, Iafusco D, Brescianini S, Nocerino V, Bizzarri C, Toni S, Cerutti F, Monciotti C, Pesavento R, Iughetti L, Bernardini L, Bonfanti R, Gargantini L, Vanelli M, Aguilar-Bryan L, Stazi MA, Grasso V, Colombo C, Barbetti F, the ISPED Early Diabetes Study Group

مصطلحات موضوعية: ABCC8 gene . Infancy-onset diabetes mellitus . INS gene . KCNJ11 gene . Monogenic diabetes of infancy . Neonatal diabetes mellitus . Non-syndromic diabetes

Relation: info:eu-repo/semantics/altIdentifier/pmid/21544516; info:eu-repo/semantics/altIdentifier/wos/WOS:000291392000015; volume:54; issue:7; firstpage:1693; lastpage:1701; numberofpages:9; journal:DIABETOLOGIA; http://hdl.handle.net/2318/85463; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79959716801

الاتاحة: http://hdl.handle.net/2318/85463
https://doi.org/10.1007/s00125-011-2094-8

المؤلفون: Rubio-Cabezas, Oscar, Patch, Ann-Marie, Minton, Jayne A. L., Flanagan, Sarah E., Edghill, Emma L., Hussain, Khalid, Balafrej, Amina, Deeb, Asma, Buchanan, Charles R., Jefferson, Ian G., Mutair, Angham, The Neonatal Diabetes International Collaborative Group, Hattersley, Andrew T., Ellard, Sian

مصطلحات موضوعية: Translational control, Activating mutations, INS gene, Mellitus, Insulin

الاتاحة: https://espace.library.uq.edu.au/view/UQ:240662

المؤلفون: Cunningham, Corey

المساهمون: Tsai, Billy, Arvan, Peter, Fingar, Diane C, Fuller, Robert S, Lin, Jiandie

مصطلحات موضوعية: Protein Quality Control, Endoplasmic Reticulum, Mutant INS-gene-induced Diabetes of Youth, ER-associated degradation, ER-autophagy, Biological Chemistry, Molecular, Cellular and Developmental Biology, Science (General), Science

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/149827; orcid:0000-0002-1755-4881; Cunningham, Corey; 0000-0002-1755-4881

الاتاحة: https://hdl.handle.net/2027.42/149827