المؤلفون: Atschekzei, Faranaz^{Aff1, IDs00393022011838_cor1}, Schürmann, Gesine

المصدر: Zeitschrift für Rheumatologie. 81(4):328-331

المؤلفون: Samantha K. Sarkar, Angela Matyas, Ikhuosho Asikhia, Zhenkun Hu, Mia Golder, Kaitlyn Beehler, Tanja Kosenko, Thomas A. Lagace

المصدر: Frontiers in Physiology, Vol 13 (2022)

مصطلحات موضوعية: LDLR, low density lipoprotein receptor, LDL-C, LDL-cholesterol, PCSK9, proprotein convertase subtilisin/kexin type 9, FH, familial hypercholesterolemia, GOF, gain-of-function, Physiology, QP1-981

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphys.2022.960272/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/5b011592ba30443bbae7dc2981011534

المؤلفون: Theodore S. Lawrence, May San Martinho, Derek J. Nancarrow, Dipankar Ray, David G. Beer

المصدر: Cellular and Molecular Gastroenterology and Hepatology

مصطلحات موضوعية: p53, 0301 basic medicine, Mutant, Review, UPS, 0302 clinical medicine, Ubiquitin, GOF, gain-of-function, HSP, Medicine, MVP, mevalonate-5-phosphate, EAC, esophageal adenocarcinoma, Molecular Targeted Therapy, Gastrointestinal Neoplasms, biology, Protein Stability, Gastroenterology, GI, gastrointestinal, Ubiquitin ligase, RE, responsive element, Mdm2, HSP, heat shock protein, 030211 gastroenterology & hepatology, HOP, Hsp70/Hsp90 organizing protein, Ubiquitin-Protein Ligases, Antineoplastic Agents, Heat Shock Protein, 03 medical and health sciences, UPS, ubiquitin proteasome system, Heat shock protein, BE, Barrett’s esophagus, Ubiquitin Proteasome System, LGD, low-grade dysplasia, Humans, HGD, high-grade dysplasia, LOH, loss of heterozygosity, Hepatology, business.industry, WT, wild-type, RNF128/GRAIL, 030104 developmental biology, Proteasome, Chaperone (protein), Mutation, Proteolysis, Cancer cell, biology.protein, Cancer research, Tumor Suppressor Protein p53, HCC, hepatocellular carcinoma, business, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fb8b4a5877a31843d9d41138bf96cb2
https://doi.org/10.1016/j.jcmgh.2020.10.012

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المؤلفون: Nabil G. Seidah

المصدر: Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100130-(2021)

مصطلحات موضوعية: CHRD, Cys-His-rich domain, Apolipoprotein B, HEK293, human embryonic kidney 293, DENV, dengue virus, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, S1P, site 1 protease, Biochemistry, 0302 clinical medicine, Endocrinology, Thematic Review Series: The Science of FH, Neoplasms, lipid metabolism, GOF, gain-of-function, cancer/metastasis, Receptor, 0303 health sciences, biology, LDLR, LDL receptor, SKI-1, subtilisin-kexin isozyme 1, 3. Good health, Virus Diseases, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, furin, Endosome, Hypercholesterolemia, QD415-436, FH, familial hypercholesterolemia, ER, endoplasmic reticulum, 03 medical and health sciences, cDNA, complementary DNA, lysosomes, Zymogen, medicine, MHC, major histocompatibility complex, Animals, Humans, mAb, monoclonal antibody, LDL-C, 030304 developmental biology, PCSK9, proprotein convertases, Thematic Review Series, PC, proprotein convertase, Cell Biology, Proprotein convertase, medicine.disease, LDLR, inflammation, LDL receptor, Cancer research, biology.protein, viral infection, PCSK9, proprotein convertase subtilisin/kexin type 9, LOF, loss of function, NARC-1, neural apoptosis-regulated convertase 1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa9b1dcccbf273c1836a23142dd023f3
http://europepmc.org/articles/PMC8551645

المؤلفون: Kohji Takei, Tadashi Abe, Satoru Noguchi, Hiroshi Yamada, Tetsuya Takeda, Ichizo Nishino, Mariko Okubo, Kenshiro Fujise

المساهمون: National Center of Neurology and Psychiatry National Institute of Mental Health (NCNP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), National Center of Neurology and Psychiatry [Tokyo, Japan], Department of Genetics, University of Cambridge [UK] (CAM)-Cancer Research UK

المصدر: Journal of Biological Chemistry
Journal of Biological Chemistry, 2021, 296, pp.100077. ⟨10.1074/jbc.RA120.015184⟩
The Journal of Biological Chemistry

مصطلحات موضوعية: 0301 basic medicine, BIN1, Cell division, [SDV]Life Sciences [q-bio], Blotting, Western, TLS, tubule-like structures, GTPase, PR, proline-rich, Biochemistry, centronuclear myopathy, Dynamin II, 03 medical and health sciences, CNM, centronuclear myopathy, Membrane fission, dynamin, medicine, Animals, Humans, Immunoprecipitation, BAR domain, Centronuclear myopathy, Muscle, Skeletal, Molecular Biology, Adaptor Proteins, Signal Transducing, Dynamin, Nanotubes, BAR domain protein, 030102 biochemistry & molecular biology, Chemistry, Tumor Suppressor Proteins, Nuclear Proteins, Skeletal muscle, Cell Biology, medicine.disease, LUVs, Large unilamellar vesicles, Cell biology, HEK293 Cells, dynamin 2, 030104 developmental biology, medicine.anatomical_structure, Microscopy, Fluorescence, T-tubules, GOF, gain of function, membrane remodeling, Biogenesis, Myopathies, Structural, Congenital, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe64c154b7198291fe604b31ac88fef
https://hal.science/hal-03842233

المؤلفون: Dirk J. Blom, César Martín, Kévin Chemello, Gilles Lambert, Antonio Gallo, Javier García-Nafría

المساهمون: Gestionnaire, Hal Sorbonne Université, Diabète athérothrombose et thérapies Réunion Océan Indien (DéTROI), Université de La Réunion (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Instituto de Biocomputación y Física de Sistemas Complejos = Institute for Biocomputation and Physics of Complex Systems (BIFI), University of Zaragoza - Universidad de Zaragoza [Zaragoza], Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service d'Endocrinologie, Métabolisme et Prévention des Maladies Cardio-vasculaires [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universidad del Pais Vasco / Euskal Herriko Unibertsitatea [Espagne] (UPV/EHU), University of Cape Town, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de La Réunion (UR), Service d’Endocrinologie, Métabolisme et Prévention des Risques Cardio-Vasculaires [CHU Pitié-Salpêtrière], Interreg, Conseil Régional de la Réunion, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Fondation pour la Recherche Médicale, Eusko Jaurlaritza, Agence Nationale de la Recherche (France), Fondation de France, Blom, Dirk

المصدر: Addi. Archivo Digital para la Docencia y la Investigación
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Journal of Lipid Research
Journal of Lipid Research, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩
Journal of Lipid Research, Vol 62, Iss, Pp 100062-(2021)
Journal of Lipid Research, American Society for Biochemistry and Molecular Biology, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco

مصطلحات موضوعية: 0301 basic medicine, Apolipoprotein B, [SDV]Life Sciences [q-bio], Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Biochemistry, 0302 clinical medicine, Endocrinology, ANGPTL3, GOF, gain-of-function, HoFH, homozygous familial hypercholesterolemia, apoB, apolipoprotein B, TRL, TG-rich lipoprotein, biology, TG, triglyceride, familial hypercholesterolemia, LDLR, LDL receptor, Lipoprotein(a), 3. Good health, [SDV] Life Sciences [q-bio], PCSK9, proprotein convertase subtilisin kexin type 9, Autosomal Recessive Hypercholesterolemia, Cardiovascular Diseases, LDL cholesterol, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, medicine.medical_specialty, ARH, autosomal recessive hypercholesterolemia, ANGPTL3, angiopoietin-like 3, apo(a), apolipoprotein (a), HeFH, heterozygous familial hypercholesterolemia, apoB100, apolipoprotein B100, QD415-436, apoA1, apolipoprotein A1, FH, familial hypercholesterolemia, 03 medical and health sciences, Internal medicine, medicine, CVDs, REDUCE-IT, Reduction of Cardiovascular Events with Icosapent Ethyl-Intervention Trial, LDL-C, FCR, fractional catabolic rate, business.industry, PCSK9, lipoprotein (a), FDB, familial defective apolipoprotein B, LDLRAP1, LDLR adapter protein 1, Thematic Review Series, Cell Biology, medicine.disease, JELIS, Japan EPA Lipid Intervention Study, Lp(a), lipoprotein (a), lipoproteins, 030104 developmental biology, ASCVD, atherosclerotic CVD, LDL receptor, biology.protein, business, TESLA, Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities, Lipoprotein

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44447337b377c6d9f787e9f7ad596c58
http://hdl.handle.net/10810/51139

المؤلفون: Philip D. Kiser, Krzysztof Palczewski

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: 11-cis retinal, RPE65, Biochemistry, CCD, carotenoid cleavage dioxygenase, Macular Degeneration, AAV, adeno-associated virus, 11cRDH, 11-cis-RDH (RDH5), AWAT2 (MFAT), acyl-CoA wax alcohol acyltransferase 2, RCD, rod–cone dystrophy, atRDH, all-trans-RDH, RNAseq, next-generation RNA sequencing, IRBP, interphotoreceptor retinoid-binding protein, 11cRE, 11-cis-retinyl esters, CRISPR/Cas9, clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9, LCA, Leber congenital amaurosis, RGR, ABCA4, ATP-binding cassette subfamily A member 4, adRP, autosomal dominant retinitis pigmentosa, 11cRAL, 11-cis-retinal, NHEJ, nonhomologous end joining, GLF, gain and loss of function, CSNB, congenital stationary blindness, ND, nitrosotalea devanaterra, Retinal Pigments, Visual phototransduction, Biochemistry & Molecular Biology, G protein-coupled receptor (GPCR), Reviews, PAM sequence, protospacer adjacent motif, GoF, gain of function, 03 medical and health sciences, Isomerism, Ocular, Retinitis pigmentosa, Genetics, Humans, Retinal G protein coupled receptor, All trans retinol, G protein-coupled receptor, LoF, loss of function, Molecular Biology, Eye Disease and Disorders of Vision, LRAT, lecithin:retinol acyltransferase, medicine.disease, DSBs, DNA double-stranded breaks, eye diseases, FDA, U.S. Food and Drug Administration, 030104 developmental biology, chemistry, rhodopsin, Neuroscience, 0301 basic medicine, retina, genetic structures, Vision, CRALBP, retinaldehyde-binding protein, arRP, autosomal recessive RP, Neurodegenerative, retinoid cycle, Medical and Health Sciences, chemistry.chemical_compound, NIH, National Institutes of Health, 11cROL, 11-cis-retinol, BCO, β-carotene 15,15′-dioxygenase, AMD, age-related macular degeneration, HDR, homology-directed repair, Rho, rhodopsin, RGR, retinal G-protein-coupled receptor, Biological Sciences, NinaB, neither inactivation nor afterpotential mutant B carotenoid oxygenases, NRL, retina-specific leucine zipper protein, eye, OS, the photoreceptor outer segments, medicine.anatomical_structure, HRAS, HRas proto-oncogene (GTPase), Vertebrates, Retinal Cone Photoreceptor Cells, cis-trans-Isomerases, RPE, retinal pigment epithelium, Biology, visual cycle, ER, endoplasmic reticulum, atROL, all-trans-retinol, Rare Diseases, PDB, Protein Data Bank, medicine, Animals, RDH, retinol dehydrogenase, RP, retinitis pigmentosa, Vision, Ocular, RPE65, retinoid isomerase, Retinal pigment epithelium, 030102 biochemistry & molecular biology, Neurosciences, Retinal, Cell Biology, CMV, cytomegalovirus, atRE, all-trans-retinyl esters, Chemical Sciences, atRAL, all-trans-retinal, sense organs, Luxturna, voretigene neparvovec-rzyl

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31dd9fba85a79ff8ef5fa8fa72c62621
https://pubmed.ncbi.nlm.nih.gov/33187985

المصدر: Gastroenterology

مصطلحات موضوعية: EBV, Epstein-Barr virus, TNF, tumor necrosis factor, Autoimmune Enteropathy, Ig, immunoglobulin, Article, IL, interleukin, Immune Regulation, GoF, gain of function, PCR, polymerase chain reaction, Monogenic Disorders, STAT3, signal transducer and activator of transduction 3, CADD, combined annotation-dependent depletion, JAK1/2 Inhibitor, JAK, Janus kinase, WES, whole exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::84d21ca7759551129e891c456cb70b8d
https://pubmed.ncbi.nlm.nih.gov/30557559

المؤلفون: Charles R. Sanders, Alfred L. George, Jonathan P. Schlebach, Jens Meiler, Laura M. Chamness, Hui Huang, Georg Kuenze, Carlos G. Vanoye

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: 0301 basic medicine, Patch-Clamp Techniques, Potassium Channels, Subfamily, HEK293, human embryonic kidney 293, Mutant, LQTS, long QT syndrome, medicine.disease_cause, Biochemistry, Lep, leader peptidase, cardiovascular disease, FC, flow cytometry, KCNQ, voltage-gated potassium channel subfamily Q, KCNE, voltage-gated potassium channel-regulatory subfamily E, Mutation, KCNQ1, Chemistry, Potassium channel, Long QT Syndrome, Phenotype, VSD, voltage-sensor domain, Potassium Channels, Voltage-Gated, Gain of Function Mutation, KCNQ1 Potassium Channel, GOF, gain of function, Protein Binding, Research Article, AF, atrial fibrillation, CHO Cells, arrhythmia, CHO, Chinese hamster ovary, LOF, loss of channel function, ER, endoplasmic reticulum, cDNA, complementary DNA, 03 medical and health sciences, Cricetulus, FBS, fetal bovine serum, trafficking, medicine, Animals, Humans, Molecular Biology, Ion channel, 030102 biochemistry & molecular biology, Endoplasmic reticulum, Cell Membrane, Cell Biology, PE, phycoerythrin, Electrophysiology, HEK293 Cells, 030104 developmental biology, Membrane protein, ion channel, Potassium, Biophysics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acb96613f478c2a3eec702bfba74962a
https://doi.org/10.1016/j.jbc.2021.100423