-
1Academic Journal
المؤلفون: Xiying Mao, Mingkang Chen, Yan Yu, Qinghuai Liu, Songtao Yuan, Wen Fan
المصدر: BMC Ophthalmology, Vol 21, Iss 1, Pp 1-6 (2021)
مصطلحات موضوعية: GPR143 mutation, Isolated foveal hypoplasia, OA1, Case report, Ophthalmology, RE1-994
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2415
-
2Academic Journal
المؤلفون: Beatriz Bueschbell, Prashiela Manga, Anke C. Schiedel
المصدر: Frontiers in Molecular Biosciences, Vol 9 (2022)
مصطلحات موضوعية: orphan receptors, GPCRs (G protein-coupled receptors), GPR143, ocular albinism type 1 (OA1), melanosome, intracellular GPCR, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
3Academic Journal
المؤلفون: Anna G. Figueroa, Brian S. McKay
المصدر: Cells; Volume 9; Issue 4; Pages: 910
وصف الملف: application/pdf
Relation: Cellular Pathology; https://dx.doi.org/10.3390/cells9040910
الاتاحة: https://doi.org/10.3390/cells9040910
-
4Academic Journal
المؤلفون: Flamand, Christine
المساهمون: UCL - SSH/JURI/PJIE - Droit international et européen
المصدر: Cahiers de l'EDEM, Vol. 2017, no. 10, p. 13-18
مصطلحات موضوعية: Conseil du contentieux des étrangers – Réfugié UNRWA – Bande de Gaza – Art. 1, de la Convention de Genève – Art. 12 Directive 2011/95/EU – Art. 55/2 Loi 15 décembre 1980 – Exclusion du statut de réfugié – Assistance UNRWA a cessé – Impossibilité de retourner dans la zone où UNRWA exerce son mandat – Motifs personnels de fuite – Situation personnelle de grave insécurité – Obstacles pratiques d’accès à la région d’origine – Reconnaissance de statut de plein droit
Relation: boreal:245835; http://hdl.handle.net/2078.1/245835
الاتاحة: http://hdl.handle.net/2078.1/245835
-
5Academic Journal
المؤلفون: Sarolea, Sylvie
المساهمون: UCL - SSH/JURI/PJIE - Droit international et européen
المصدر: Newsletter EDEM, Vol. 2016, no. 6, p. 15-19
مصطلحات موضوعية: Convention contre la torture, interdiction du renvoi vers un pays où il existe un risque de torture ou de traitements inhumains et dégradants, mutilations génitales, risque de ré-excision, chirurgie reconstructrice
Relation: boreal:178295; http://hdl.handle.net/2078.1/178295
الاتاحة: http://hdl.handle.net/2078.1/178295
-
6Academic Journal
المؤلفون: Tianzhi Chen, Haidong Wang, Yu Liu, Bingling Zhao, Yuanyuan Zhao, Ruiwen Fan, Pengchao Wang, Changsheng Dong
المصدر: International Journal of Molecular Sciences; Volume 17; Issue 10; Pages: 1596
مصطلحات موضوعية: ocular albinism type 1 ( OA1 ), microphthalmia-associated transcription factor ( MITF ), melanosome, coat color
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Biochemistry; https://dx.doi.org/10.3390/ijms17101596
الاتاحة: https://doi.org/10.3390/ijms17101596
-
7DataSheet1_The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor.DOCX
المؤلفون: Beatriz Bueschbell, Prashiela Manga, Anke C. Schiedel
مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, orphan receptors, GPCRs (G protein-coupled receptors), GPR143, ocular albinism type 1 (OA1), melanosome, intracellular GPCR, pigment cells
-
8Academic Journal
المؤلفون: Burgoyne, T, O'Connor, MN, Seabra, MC, Cutler, DF, Futter, CE
المصدر: J Cell Sci , 128 (7) 1400 - 1407. (2015)
مصطلحات موضوعية: Melanosome, OA1, PMEL, Retinal pigment epithelium
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/1462018/1/J_Cell_Sci-2015-Burgoyne-1400-7.pdf; https://discovery.ucl.ac.uk/id/eprint/1462018/
-
9
المؤلفون: Brian S. McKay, Anna G. Figueroa
المصدر: Cells
Cells, Vol 9, Iss 910, p 910 (2020)مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, macular degeneration, genetic structures, G-protein, L-DOPA, Disease, Review, AMD, Bioinformatics, Receptors, G-Protein-Coupled, Melanin, 03 medical and health sciences, Basal (phylogenetics), chemistry.chemical_compound, 0302 clinical medicine, OA1, medicine, Humans, GPR143, Eye Proteins, lcsh:QH301-705.5, G protein-coupled receptor, Retinal pigment epithelium, Membrane Glycoproteins, business.industry, Retinal, General Medicine, Macular degeneration, medicine.disease, eye diseases, melanin, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), chemistry, 030221 ophthalmology & optometry, sense organs, RPE, business
-
10Dissertation/ Thesis
المؤلفون: Ayhan, Yusuf Ziya
المساهمون: Sarıca, Nurten
مصطلحات موضوعية: la faculté ou l'école où l'on étudie ou enseigne ne créent pas cette différence. Mots clés: Enseignement, langue étrangère, attitude, étudiants, sémiotique, pragmatique, Education and Training, EÄŸitim ve Öğretim, Dil bilim, Linguistics, Dil edinimi, Language acquisition, Dil öğrenimi, Study of languages, Edimbilim, Pragmatics, Gösterge bilim, Semiotics, Yabancı dil eÄŸitimi, Foreign language education, Yabancı dil öğretimi, Foreign language teaching, Öğrenci davranışı, Behavior of student, Öğrenci tutumu, Student attitude, Öğretim, yabancı dil, davranış, öğrenci
Relation: Tez; https://hdl.handle.net/11499/49589; 151
-
11
المؤلفون: Michael Gaihede, Michael B. Petersen, Bjørn K. Fabian‐Jessing, Morten Duno, Arthur A.B. Bergen, Beata S. Winiarska, Henrik Vorum, Else Marie Vestergaard, Linda Neumann, Astrid S. Plomp, Wouter A. Dreschler
المساهمون: Human Genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, APH - Aging & Later Life, Ear, Nose and Throat, APH - Health Behaviors & Chronic Diseases
المصدر: Fabian-Jessing, B K, Vestergaard, E M, Plomp, A S, Bergen, A A, Dreschler, W A, Duno, M, Winiarska, B S, Neumann, L, Gaihede, M, Vorum, H & Petersen, M B 2018, ' Ocular albinism with infertility and late-onset sensorineural hearing loss ', American Journal of Medical Genetics. Part A, vol. 176, no. 7, pp. 1587-1593 . https://doi.org/10.1002/ajmg.a.38836
American journal of medical genetics. Part A, 176(7), 1587-1593. Wiley-Liss Inc.مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Ocular albinism, Infertility, medicine.medical_specialty, TBL1X, Hearing loss, Hearing Loss, Sensorineural, contiguous gene deletion syndrome, 030105 genetics & heredity, Male infertility, 03 medical and health sciences, Genetics, medicine, Humans, Transducin, Eye Proteins, Genetics (clinical), Aged, Membrane Glycoproteins, business.industry, Membrane Proteins, Genetic Diseases, X-Linked, Middle Aged, Microdeletion syndrome, Albinism, Ocular, medicine.disease, Dermatology, albinism, ocular albinism, OA1, GPR143, hearing loss, TBL1X, male infertility, oligozoospermia, asthenozoospermia, X chromosome, SHROOM2, eye diseases, Pedigree, 030104 developmental biology, Mutation, Ocular albinism type 1, Female, Sensorineural hearing loss, sense organs, medicine.symptom, business, Gene Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68cb3fd993ee63658af4ce883867cbac
https://pure.au.dk/portal/da/publications/ocular-albinism-with-infertility-and-lateonset-sensorineural-hearing-loss(5e25cd1c-f2d0-4afa-af73-0337c97899c3).html -
12
المؤلفون: Elsa Bonnafé, Catherine Armengaud, Jean-Luc Carayon, Florian Drouard, Pierre Marty, Lucie Hotier, Michel Treilhou
المساهمون: Venins et Activités Biologiques (VAcBio), Institut national universitaire Champollion [Albi] (INUC), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Centre de Recherches sur la Cognition Animale (CRCA), Centre de Biologie Intégrative (CBI), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Géographie de l'environnement (GEODE), Université Toulouse - Jean Jaurès (UT2J)-Centre National de la Recherche Scientifique (CNRS), The work was supported by the Conseil Régional Midi-Pyrénées, the Centre National de la Recherche Scientifique, and the Centre Universitaire de Formation et de Recherche J.F. Champollion (Project 10051284).
المصدر: Environmental Science and Pollution Research
Environmental Science and Pollution Research, Springer Verlag, 2015, 22 (11), pp.8022-8030. ⟨10.1007/s11356-014-2616-2⟩مصطلحات موضوعية: Olfactory system, Health, Toxicology and Mutagenesis, Honeybee, Olfactory conditioning, chemistry.chemical_compound, Transient Receptor Potential Channels, 0302 clinical medicine, Gene expression, Receptor, Thymol, Acaricides, 0303 health sciences, biology, OA1 Real-time, Brain, General Medicine, Bees, Pollution, Smell, PCR, Varroa, medicine.drug, Molecular Sequence Data, Real-Time Polymerase Chain Reaction, Statistics, Nonparametric, gamma-Aminobutyric acid, Microbiology, 03 medical and health sciences, Transient receptor potential-like channel, Memory, Receptors, Biogenic Amine, RDL, Resistant to dieldrin, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Botany, medicine, Animals, Environmental Chemistry, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Olfactory memory, Gene, DNA Primers, 030304 developmental biology, [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, Base Sequence, Receptors, GABA-A, biology.organism_classification, Gene Expression Regulation, chemistry, TRPL, 030217 neurology & neurosurgery
-
13Academic Journal
المؤلفون: Jeannin, Loïse
المصدر: Presidential Alumni Research Dissemination Award
مصطلحات موضوعية: Cette étude a pour terrain l’une des plus grandes universités d’Afrique du Sud (49 500 étudiants) dans laquelle les étudiants présentent une large diversité d’origines socioéconomiques et une myriade de langues maternelles, à l’image de la société sud-africaine (Carpentier & Cross, 2009). Le contexte national est marqué par les revendications étudiantes pour la diminution des frais de scolarité (« Fees must fall ») mais aussi par des débats autour de la décolonisation des savoirs enseignés à l’université (Le Grange, 2016). Ces débats s’inscrivent dans le contexte postapartheid de l’Afrique du Sud, où les inégalités demeurent, malgré les espoirs nés en 1994 avec l’élection de Nelson Mandela. En réponse à la demande des étudiants, les universités souhaitent décoloniser leurs formations en invitant les enseignants à développer des contenus plus pertinents en regard du contexte sud-africain et africain. Pour les enseignants, des ateliers de formation à la décolonisation/africanisation des contenus sont offerts dans plusieurs universités du pays. Cependant, les programmes de formation continue souffrent d’un déficit de reconnaissance (Council on Higher Education, 2016) et sont souvent critiqués pour leur manque de contextualisation (Leibowitz, Vorster, & Ndebele, 2016). Ainsi, la pratique de co-enseignement, qui est l’objet de cet article, s’inscrit dans une dynamique de contextualisation et de recherche d’efficacité pour la formation continue des enseignants-chercheurs (Leibowitz et al, 2016)
وصف الملف: text/html
-
14Academic Journal
المؤلفون: Liu, Jing, Jia, Yanlei, Wang, Lejin, Bu, Juan
المساهمون: Bu, J (reprint author), Peking Univ, Hosp 3, Key Lab Vis Loss & Restorat, Dept Ophthalmol,Minist Educ, Beijing 100191, Peoples R China., Peking Univ, Hosp 3, Key Lab Vis Loss & Restorat, Dept Ophthalmol,Minist Educ, Beijing 100191, Peoples R China., Municipal Hosp Zaozhuang, Dept Ophthalmol, Zaozhuang 277100, Shandong, Peoples R China.
المصدر: SCI
مصطلحات موضوعية: Four-point-one, ezrin, radixin, moesin domain-containing 7 gene, G protein-coupled receptor 143 gene, X-linked congenital nystagmus, OCULAR ALBINISM TYPE-1, X-LINKED NYSTAGMUS, FRMD7 GENE, OA1 GENE, MUTATION, IDENTIFICATION
Relation: INDIAN JOURNAL OF OPHTHALMOLOGY.2016,64(11),813-817.; 1516731; http://hdl.handle.net/20.500.11897/458504; WOS:000391823700005
-
15
المؤلفون: Anke C. Schiedel, Prashiela Manga, Elisabetta De Filippo
المصدر: Investigative Ophthalmology & Visual Science
مصطلحات موضوعية: Ocular albinism, 0301 basic medicine, Albinism, Tyrosinase, DNA Mutational Analysis, Computational biology, Pharmacology, Melanocyte, Biology, Ligands, 03 medical and health sciences, OA1, medicine, Arrestin, Humans, Receptor, Eye Proteins, Letters to the Editor, ocular albinism, Cells, Cultured, X-linked ocular albinism, X-linked recessive inheritance, Melanosome, G protein-coupled receptor, Membrane Glycoproteins, Chemistry, Pimozide, Biochemistry and Molecular Biology, Wild type, Genetic Diseases, X-Linked, Exons, medicine.disease, Albinism, Ocular, Ethacridine, 3. Good health, Cell biology, Pedigree, medicine.anatomical_structure, 030104 developmental biology, Mutation, Niclosamide, RNA, Identification (biology), GPR143 ligands, G protein–coupled receptor 143, pharmacologic tools
-
16
المؤلفون: Belen Martin-Martin, Clare E. Futter, Rushee S. Jolly, Maria Vittoria Schiaffino, Rosanna Piccirillo, Miguel C. Seabra, Thomas Burgoyne
المصدر: Journal of Cell Science
مصطلحات موضوعية: Endosome, Mutant, Endosomes, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, OA1, Lysosome, medicine, Humans, Receptor, Eye Proteins, 030304 developmental biology, Melanosome, 0303 health sciences, Mutation, Melanosomes, Membrane Glycoproteins, Multivesicular bodies, Gene Expression Regulation, Developmental, Cell Biology, eye diseases, PMEL, Cell biology, ErbB Receptors, medicine.anatomical_structure, sense organs, Lysosomes, 030217 neurology & neurosurgery, Biogenesis, HeLa Cells, gp100 Melanoma Antigen, Research Article
-
17Academic Journal
المؤلفون: Palmisano I., Bagnato P., Palmigiano A., Rotondo G., Altimare D., Venturi C., Sviderskaya E. V., Piccirillo R., Coppola M., Marigo V., Incerti B., Ballabio A., Surace E. M., Tacchetti C., Bennett D. C., Schiaffino M. V., INNAMORATI, Giulio
المساهمون: Palmisano, I., Bagnato, P., Palmigiano, A., Innamorati, Giulio, Rotondo, G., Altimare, D., Venturi, C., Sviderskaya, E. V., Piccirillo, R., Coppola, M., Marigo, V., Incerti, B., Ballabio, A., Surace, E. M., Tacchetti, C., Bennett, D. C., Schiaffino, M. V.
مصطلحات موضوعية: OA1, ocular albinism, Gprotein coupled receptor, intracellular traffic
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/18697795; volume:17; issue:22; firstpage:3487; lastpage:3501; numberofpages:15; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11562/334472; http://hmg.oxfordjournals.org/cgi/content/full/17/22/3487
-
18Academic Journal
المؤلفون: Liu, Jing Yu, Ren, Xiang, Yang, Xiufeng, Guo, Tangying, Yao, Qi, Li, Lin, Dai, Xiaohua, Zhang, Mingchang, Wang, Lejin, Liu, Mugen, Wang, Qing K.
المساهمون: Wang, QK (reprint author), Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Wuhan 430074, Peoples R China., Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Wuhan 430074, Peoples R China., Renmin Hosp Tanghe, Tanghe, Peoples R China., Cleveland Clin, Lerner Res Inst, Dept Mol Cardiol, Cleveland, OH 44195 USA., Huazhong Univ Sci & Technol, Dept Ophthalmol, Union Hosp, Wuhan 430074, Peoples R China., Peking Univ, Ctr Eye, Beijing 100871, Peoples R China.
المصدر: SCI
مصطلحات موضوعية: congenital nystagmus and consistent manifestation, GPR143, mild ocular albinism, linkage analysis, mutation, OCULAR ALBINISM TYPE-1, MOTOR NYSTAGMUS, GENE-PRODUCT, OA1 GENE, CHROMOSOME, 6P12, GLYCOPROTEIN, FIBERS, LOCUS, MAPS
Relation: JOURNAL OF HUMAN GENETICS.2007,52,(6),565-570.; 970760; http://hdl.handle.net/20.500.11897/397941; WOS:000247157100016
-
19Academic Journal
المؤلفون: F. Vetrini, R. Tammaro, S. Bondanza, EM Surace, A. Auricchio, A. Ballabio, DE LUCA, Michele, MARIGO, Valeria
المساهمون: F., Vetrini, R., Tammaro, S., Bondanza, Em, Surace, A., Auricchio, DE LUCA, Michele, A., Ballabio, Marigo, Valeria
مصطلحات موضوعية: albinism • splicing • exon skipping • morpholino oligonucleotide • ocular albinism type 1 • OA1 • GPR143
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/16550551; info:eu-repo/semantics/altIdentifier/wos/WOS:000237275900005; volume:27; issue:5; firstpage:420; lastpage:426; journal:HUMAN MUTATION; http://hdl.handle.net/11380/307286; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33646359203
-
20
المؤلفون: Andrea Ballabio, Dorothy C. Bennett, Consuelo Venturi, Elena V. Sviderskaya, Valeria Marigo, Paola Bagnato, Domenico Altimare, Angela Palmigiano, G. Rotondo, Carlo Tacchetti, Giulio Innamorati, Enrico Maria Surace, Barbara Incerti, Rosanna Piccirillo, Ilaria Palmisano, Maria Vittoria Schiaffino, Massimiliano Coppola
المساهمون: Palmisano, Ilaria, Bagnato, Paola, Palmigiano, Angela, Innamorati, Giulio, Rotondo, Giuseppe, Altimare, Domenico, Venturi, Consuelo, Sviderskaya, Elena V, Piccirillo, Rosanna, Coppola, Massimiliano, Marigo, Valeria, Incerti, Barbara, Ballabio, Andrea, Surace, Enrico M, Tacchetti, Carlo, Bennett, Dorothy C, Schiaffino, Maria Vittoria, Palmisano, I, Bagnato, P, Palmigiano, A, Innamorati, G, Rotondo, G, Altimare, D, Venturi, C, Sviderskaya, Ev, Piccirillo, R, Coppola, M, Marigo, V, Incerti, B, Surace, Enrico Maria, Tacchetti, C, Bennett, Dc, Schiaffino, Mv
المصدر: Human Molecular Genetics
مصطلحات موضوعية: melanosoma, melanociti, 030204 cardiovascular system & hematology, Receptors, G-Protein-Coupled, Mice, OA1, 0302 clinical medicine, Pigment Epithelium of Eye, Genetics (clinical), Cytoskeleton, Genetics, Mice, Knockout, 0303 health sciences, Melanosomes, Membrane Glycoproteins, Articles, General Medicine, Albinism, Ocular, Corrigenda, Cell biology, albinismo, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Ocular albinism type 1, Melanocytes, Ocular albinism, Gprotein coupled receptor, ocular albinism, intracellular traffic, Biology, Melanocyte, 03 medical and health sciences, Organelle, medicine, Animals, Humans, Eye Proteins, Molecular Biology, 030304 developmental biology, Melanosome, medicine.disease, Actin cytoskeleton, eye diseases, Microscopy, Electron, Melanosome transport, Organelle biogenesis, sense organs, 030217 neurology & neurosurgery
وصف الملف: text/plain