المؤلفون: Louis Marois, MD, PhD, Caridad Le Gal, MD, Guilhem Cros, MD, Emilia Liana Falcone, MD, PhD, Hugo Chapdelaine, MD

المصدر: JAAD Case Reports, Vol 49, Iss , Pp 22-24 (2024)

مصطلحات موضوعية: empagliflozin, G6PC3 deficiency, neutropenia, SGLT2 inhibitor, wound healing, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512624001371; https://doaj.org/toc/2352-5126

URL الوصول: https://doaj.org/article/c551de959bad4e9cadd51275e9719bc6

المؤلفون: Negar Moradian, Samaneh Zoghi, Elham Rayzan, Simin Seyedpour, Raul Jimenez Heredia, Kaan Boztug, Nima Rezaei

المصدر: Allergy, Asthma & Clinical Immunology, Vol 19, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Severe congenital neutropenia, G6PC3 deficiency, Whole exome sequencing, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1710-1492

URL الوصول: https://doaj.org/article/7e4962c5348b4d47934e5e225d7ee5d8

المؤلفون: Sima Torabidastgerdooei, Marie-Eve Roy, Borhane Annabi

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: glioblastoma, glucose-6-phosphatase system, G6PC3, G6PT, SLC37A2, SLC37A4, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1265698/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/43150942dd5a440d9c1811bcd81cd9ce

المؤلفون: Paola Marcolongo, Virginia Barone, Stefano Luisi

المصدر: AboutOpen, Vol 10, Iss 1 (2023)

مصطلحات موضوعية: G6PC3, G6PT, 1,5-Anhydroglucitol-6-phosphate, Glycolysis, Uterine leiomyomas, Medicine

وصف الملف: electronic resource

Relation: https://journals.aboutscience.eu/index.php/aboutopen/article/view/2511; https://doaj.org/toc/2465-2628

URL الوصول: https://doaj.org/article/0ab44ccc9c1a42eca003b523c1768a36

المؤلفون: Dewulf, Joseph P., Marie, Sandrine, Chevalier, Nathalie, Veiga da Cunha, Maria

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de biochimie médicale, UCL - SSS/IREC/LTAP - Louvain Centre for Toxicology and Applied Pharmacology

المصدر: Molecular Genetics and Metabolism, Vol. 140, no. 3 (2023)

مصطلحات موضوعية: GSD1B, G6PC3, SGLT2 inhibitors, Neutropenia, 5-anhydroglucitol, Dried blood spots monitoring, Diabetes, Glifozins

Time: 1

Relation: boreal:279096; http://hdl.handle.net/2078.1/279096; urn:ISSN:1096-7192; urn:EISSN:1096-7206

الاتاحة: http://hdl.handle.net/2078.1/279096

المؤلفون: Larsen, Lars A., Hitz, Marc Phillip

المصدر: Larsen , L A & Hitz , M P 2024 , Human Genetics of Atrial Septal Defect . in Congenital Heart Diseases : The Broken Heart . vol. 1441 , Advances in Experimental Medicine and Biology , pp. 467-480 . https://doi.org/10.1007/978-3-031-44087-8_24

مصطلحات موضوعية: ACTC1, ASD, ASD 2, Atrial septal defect, Atrioventricular septum defects, BRAF, Cardio-facio-cutaneous syndrome, Cardiomyogenesis, CDK13, CHARGE syndrome, CHD4, CHD7, DHCR7, endoMT, Familial ASD, G6PC3, GATA4GATA binding protein (GATA)GATA4, Genome-wide association studies, Holt-Oram syndrome, Isolated ASD, Kabuki syndrome, KMT2D, MAP2K1, MAP2K2, Mowat-Wilson syndrome, MYH6Myosin heavy chain (MYH)MYH6, NKX2-5, Noonan syndrome, Patent foramen ovale, PEX7

الاتاحة: https://curis.ku.dk/portal/da/publications/human-genetics-of-atrial-septal-defect(83db43b6-1e74-47b7-808f-5cb479b73b96).html
https://doi.org/10.1007/978-3-031-44087-8_24

المؤلفون: Larissa López-Rodríguez, Yevgeniya Svyryd, Edmar O. Benítez-Alonso, Pamela Rivero-García, Leonora Luna-Muñoz, Osvaldo M. Mutchinick

المصدر: Revista de Investigación Clínica, Vol 74, Iss 6 (2022)

مصطلحات موضوعية: Neutropenia. Severe congenital neutropenia. Severe congenital neutropenia type 4. G6PC3 mutations., Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: https://www.clinicalandtranslationalinvestigation.com/frame_esp.php?id=445; https://doaj.org/toc/0034-8376; https://doaj.org/toc/2564-8896

URL الوصول: https://doaj.org/article/3bd1e3a06b7c4177848c8b2ea782ca72

المؤلفون: López-Rodríguez,Larissa, Svyryd,Yevgeniya, Benítez-Alonso,Edmar O., Rivero-García,Pamela, Luna-Muñoz,Leonora, Mutchinick,Osvaldo M.

المصدر: Revista de investigación clínica v.74 n.6 2022

مصطلحات موضوعية: Neutropenia, Severe congenital neutropenia, Severe congenital neutropenia type 4, G6PC3 mutations

وصف الملف: text/html

الاتاحة: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0034-83762022000600328

المؤلفون: Rongxin Dai, Ge Lv, Wenyan Li, Wenjing Tang, Junjie Chen, Qiao Liu, Lu Yang, Min Zhang, Zhirui Tian, Lina Zhou, Xin Yan, Yating Wang, Yuan Ding, Yunfei An, Zhiyong Zhang, Xuemei Tang, Xiaodong Zhao

المصدر: Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: G6PC3, neutrophils, severe congenital neutropenia, NETs, G-CSF treatment, apoptosis, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.699743/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/3f12dd24055c42d48b6840429f479196

المؤلفون: Resaz, Roberta, Raggi, Federica, Segalerba, Daniela, Lavarello, Chiara, Gamberucci, Alessandra, Bosco, Maria Carla, Astigiano, Simonetta, Assunto, Antonia, Melis, Daniela, D'Acierno, Mariavittoria, Veiga da Cunha, Maria, Petretto, Andrea, Marcolongo, Paola, Trepiccione, Francesco, Eva, Alessandra

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Molecular genetics and metabolism reports, Vol. 29, no.-, p. 100813 (2021)

مصطلحات موضوعية: 5-anhydroglucitol-6-phosphate, 5AG, 5-anhydroglucitol, 5AG6P, BM, bone marrow, Dapagliflozin, G-CSF, granulocyte colony stimulating factor, G6PC3, glucose-6-phosphatase C3, G6PT, glucose-6-phospate translocase, GSDIb, Glycogen Storage Disease type 1b, M-CSF, macrophage colony stimulating factor, Mouse model, NET, neutrophil extracellular trap, Neutrophils, PMA, phorbol myristate acetate, PRM, Renal sodium-glucose co-transporter-2, SGLT2, sodium-glucose co-transporter-2, TM, tamoxifen

Time: 1

Relation: boreal:253251; http://hdl.handle.net/2078.1/253251; info:pmid/34712576; urn:ISSN:2214-4269; urn:EISSN:2214-4269

الاتاحة: http://hdl.handle.net/2078.1/253251
https://doi.org/10.1016/j.ymgmr.2021.100813

المؤلفون: Michiko Horiguchi, Yuya Turudome, Kentaro Ushijima

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 12; Pages: 6595

مصطلحات موضوعية: stem cell, adipose-derived mesenchymal stem cells (ADSC), type II diabetes mellitus, transplant resistance, FoxO signaling pathway, G6PC3, IGF1

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Endocrinology and Metabolism; https://dx.doi.org/10.3390/ijms22126595

الاتاحة: https://doi.org/10.3390/ijms22126595

المؤلفون: Veiga da Cunha, Maria, Van Schaftingen, Emile, Bommer, Guido

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Journal of inherited metabolic disease, Vol. 43, no.1, p. 14-24 (2020)

مصطلحات موضوعية: 5-anhydroglucitol-6-phosphate, D-2-hydroxyglutaric aciduria, G6PC3, G6PT, NADP(H)X, PGM1, SGLT2 inhibitor, UGP2, enzyme promiscuity, galactose, inborn errors of metabolism, metabolite repair, neutropenia

Time: 1

Relation: boreal:226512; http://hdl.handle.net/2078.1/226512; info:pmid/31691304; urn:EISSN:1573-2665

الاتاحة: http://hdl.handle.net/2078.1/226512
https://doi.org/10.1002/jimd.12187

المؤلفون: Roberts, George AG, Tunster, Simon J

مصطلحات موضوعية: G6pc3, Glucose 6-phosphatase, Glycogen cells, Mouse placenta, Placental glycogen, 1,4-alpha-Glucan Branching Enzyme, Animals, Female, Gene Expression Regulation, Developmental, Glycogen, Male, Mice, Placenta, Pregnancy, Trophoblasts

وصف الملف: Print-Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/308377

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/308377
https://doi.org/10.17863/CAM.55465

المؤلفون: Ruo-Lan Gong, Jing Wu, Tong-Xin Chen

المصدر: Frontiers in Pediatrics, Vol 6 (2018)

مصطلحات موضوعية: severe congenital neutropenia, severe idiopathic neutropenia, ELANE, G6PC3, primary immunodeficiency diseases, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2018.00305/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/c76881b6c5bb43d9a200f64efaac6347

المؤلفون: Simon James Tunster, George A.G. Roberts

المساهمون: Tunster, Simon [0000-0002-2242-9452], Apollo - University of Cambridge Repository

المصدر: Placenta. 99:131-140

مصطلحات موضوعية: Male, 0301 basic medicine, Glycogenolysis, Placenta, G6PC3, Biology, Andrology, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Pregnancy, 1,4-alpha-Glucan Branching Enzyme, Glucose 6-phosphatase, medicine, Glycogen branching enzyme, Animals, reproductive and urinary physiology, Mouse placenta, 030219 obstetrics & reproductive medicine, Glycogen, Gene Expression Regulation, Developmental, Obstetrics and Gynecology, Trophoblast, Glycogen cells, Trophoblasts, Placental glycogen, 030104 developmental biology, medicine.anatomical_structure, Reproductive Medicine, chemistry, Glycogenesis, embryonic structures, biology.protein, G6pc3, Female, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef2c6bc07747d9385cb631a8fbf74a7d
https://doi.org/10.1016/j.placenta.2020.07.010

المؤلفون: Anoop Mistry, Thomas Scambler, David Parry, Mark Wood, Gabriela Barcenas-Morales, Clive Carter, Rainer Doffinger, Sinisa Savic

المصدر: Frontiers in Immunology, Vol 8 (2017)

مصطلحات موضوعية: G6PC3, systemic autoinflammatory syndromes, PID, neutropenia, adalimumab, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fimmu.2017.01485/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/cfa2367d78264b6baec81a6d01563d58

المؤلفون: Ayse Aysim Ozagari, Zeynep Yıldız Yıldırmak, Dildar Bahar Genc, Hüseyin Onay, Gul Ozcelik

مصطلحات موضوعية: Male, medicine.medical_specialty, Abdominal pain, G6PC3 deficiency, G6PC3, Neutropenia, Inflammatory bowel disease, Gastroenterology, Internal medicine, medicine, Congenital Bone Marrow Failure Syndromes, Humans, neutropenia, Congenital Neutropenia, Child, amyloidosis, Proteinuria, Renal Amyloidosis, business.industry, Amyloidosis, Hematology, medicine.disease, Oncology, Pediatrics, Perinatology and Child Health, Glucose-6-Phosphatase, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5598b48aa660ce4aa3c3b96f1c05905e
https://hdl.handle.net/11454/77404

المؤلفون: Al-Daghri N. M., Pontremoli C., Cagliani R., Forni D., Alokail M. S., Al-Attas O. S., Sabico S., Riva S., Clerici M., Sironi M.

المساهمون: Al-Daghri, N, Pontremoli, C, Cagliani, R, Forni, D, Alokail, M, Al-Attas, O, Sabico, S, Riva, S, Clerici, M, Sironi, M

مصطلحات موضوعية: Association analysi, G6PC, G6PC2, G6PC3, Natural selection, Type 2 diabete

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/28173748; info:eu-repo/semantics/altIdentifier/wos/WOS:000397333700001; volume:17; issue:1; firstpage:1; lastpage:14; numberofpages:14; journal:BMC EVOLUTIONARY BIOLOGY; https://hdl.handle.net/10281/511701; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85011701637

الاتاحة: https://hdl.handle.net/10281/511701
https://doi.org/10.1186/s12862-017-0897-z

المؤلفون: John Murphy, Daniel R. Ambruso, Angelina Baroffio, Alexander D. Tran, Michael Ellison, Julie A. Reisz, Christopher M. McKinney, Natalie J. Briones, Angelo D'Alessandro

المصدر: Blood Adv

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neutropenia, Neutrophils, G6PC3, Granulocyte, Compound heterozygosity, medicine.disease_cause, Phagocytes, Granulocytes, and Myelopoiesis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Granulocyte Colony-Stimulating Factor, medicine, Congenital Bone Marrow Failure Syndromes, Humans, Missense mutation, Child, Congenital Neutropenia, Mutation, biology, business.industry, Hematology, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Glucose-6-Phosphatase, biology.protein, business, 030217 neurology & neurosurgery, Glucose 6-phosphatase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b341c5f9308f3fefe875fe7b463f3a
https://doi.org/10.1182/bloodadvances.2020002225

المؤلفون: Gerald A. Dienel

المصدر: Neurochemical Research. 45:2529-2552

مصطلحات موضوعية: 0301 basic medicine, Hexokinase, biology, Futile cycle, Metabolite, G6PC3, Glucose analog, General Medicine, Biochemistry, Cell biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Glucose 6-phosphate, biology.protein, Glucose homeostasis, 030217 neurology & neurosurgery, Glucose 6-phosphatase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6efe0adba3ab058e14913bf424ba5f91
https://doi.org/10.1007/s11064-020-03113-z