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1دورية أكاديمية
المؤلفون: Inês Gameiro, Catarina Pinto Silva, Marta Machado, Carolina Cordinhã, Carmen do Carmo, Clara Gomes
المصدر: Revista Portuguesa de Nefrologia e Hipertensão, Vol 37, Iss 4, Pp 231-233 (2023)
مصطلحات موضوعية: child, hypocalcemia/genetics, magnesium deficiency/genetics, mutation, seizures/etiology, trpm cation channels/genetics, Pathology, RB1-214
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris
المصدر: eLife, 12 (2023-01-17)
مصطلحات موضوعية: TRPM3, cell biology, cerebellar atrophy, epilepsy, gain-of-function, human, intellectual disability, neurodevelopment, neuroscience, Neurosteroids, Ion Channels, TRPM Cation Channels, TRPM3 protein, human, Animals, Humans, Gain of Function Mutation, Ion Channels/genetics, Mammals/metabolism, Neurodevelopmental Disorders/genetics, Epilepsy/genetics, TRPM Cation Channels/genetics, TRPM Cation Channels/metabolism, Mammals, Neurodevelopmental Disorders, Neuroscience (all), Biochemistry, Genetics and Molecular Biology (all), Immunology and Microbiology (all), General Immunology and Microbiology, General Biochemistry, Genetics and Molecular Biology, General Medicine, General Neuroscience, Human health sciences, Neurology, Sciences de la santé humaine, Neurologie
Relation: https://cdn.elifesciences.org/articles/81032/elife-81032-v3.pdf; urn:issn:2050-084X
URL الوصول: https://orbi.uliege.be/handle/2268/313877
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3رسالة جامعية
المؤلفون: Franck, Marina C.M.
مصطلحات موضوعية: Sensory Receptor Cells -- physiology, Neurons -- physiology, Ganglia, Spinal -- embryology, Ganglia, Spinal -- physiology, Gene Expression Regulation, Developmental, Homedomain Proteins -- genetics, Homedomain Proteins -- metabolism, Tyrosine 3-Monooxygenase -- genetics, Tyrosine 3-Monooxygenase -- metabolism, Core Binding Factor Alpha 2 Subunit -- genetics, Core Binding Factor Alpha 2 Subunit -- metabolism, TRPM Cation Channels -- genetics, TRPM Cation Channels -- metabolism, Receptor, trkA -- metabolism
Degree: Diss. (sammanfattning) Stockholm : Karolinska institutet, 2013
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4
المؤلفون: Karsten Skjødt, Megan R Beggs, Ida Appel, Henrik Dimke, R. Todd Alexander, Per Svenningsen
المصدر: Beggs, M R, Appel, I, Svenningsen, P, Skjødt, K, Alexander, T R & Dimke, H 2017, ' Expression of transcellular and paracellular calcium and magnesium transport proteins in renal and intestinal epithelia during lactation ', American Journal of Physiology: Renal Physiology, vol. 313, no. 3, pp. F629-F640 . https://doi.org/10.1152/ajprenal.00680.2016
مصطلحات موضوعية: Vitamin D/analogs & derivatives, 0301 basic medicine, Time Factors, Physiology, Calcium Channels/genetics, Mammary Glands, Animal/metabolism, Kidney, Intestinal absorption, Vitamin D3 24-Hydroxylase/genetics, 25-Hydroxyvitamin D3 1-alpha-Hydroxylase/genetics, Mice, 0302 clinical medicine, Lactation, Magnesium, Membrane Transport Proteins/genetics, Transcellular, Intestinal Mucosa, Vitamin D, Vitamin D3 24-Hydroxylase, S100 Calcium Binding Protein G/genetics, Claudins/genetics, Kidney/cytology, Adaptation, Physiological, Epithelial Cells/metabolism, medicine.anatomical_structure, Calbindin 1, Paracellular transport, Female, medicine.medical_specialty, Calcium/metabolism, TRPM6, chemistry.chemical_element, TRPM Cation Channels, TRPV Cation Channels, 030209 endocrinology & metabolism, TRPV Cation Channels/genetics, Calcium, Biology, 03 medical and health sciences, Mammary Glands, Animal, S100 Calcium Binding Protein G, Internal medicine, Journal Article, medicine, Animals, Claudin, Intestinal Mucosa/cytology, Calcium metabolism, 25-Hydroxyvitamin D3 1-alpha-Hydroxylase, Calbindin, Lactation/metabolism, Membrane Transport Proteins, Biological Transport, Epithelial Cells, Renal Reabsorption, 030104 developmental biology, Endocrinology, chemistry, Intestinal Absorption, Claudins, TRPM Cation Channels/genetics, Calbindin 1/genetics, Calcium Channels, Magnesium/metabolism, TRPV5
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54f17549ac5f341bca822692ee8b959f
https://pubmed.ncbi.nlm.nih.gov/28539338 -
5
المؤلفون: Aurore Germain, Veselina Moskova-Doumanova, Guylène Le Meur, Francis L. Munier, Christina Zeitz, Kim T. Nguyen-Ba-Charvet, Jean-Paul Saraiva, Bernd Wissinger, Hoan Nguyen, Eberhart Zrenner, Elise Orhan, Samuel G. Jacobson, Aline Antonio, Daniel F. Schorderet, Agnes B. Renner, Susanne Kohl, Wolfgang Berger, Sabine Defoort-Dhellemmes, Christian P. Hamel, Dror Sharon, Françoise Meire, Katrina Prescott, Bart P. Leroy, Dominique Bonneau, Ian Simmons, Ulrich Kellner, Hélène Dollfus, Thierry Léveillard, Xavier Zanlonghi, Christelle Michiels, Olivier Poch, Odile Lecompte, Robert K. Koenekoop, Isabelle Drumare, Marie-Elise Lancelot, Thomy de Ravel, Birgit Lorenz, Vernon Long, Christoph Friedburg, Markus N. Preising, Tien D. Luu, Mélanie Letexier, Eyal Banin, Elfride De Baere, Kinga M. Bujakowska, José-Alain Sahel, Charlotte M. Poloschek, Isabelle Audo, Claire Audier, Shomi S. Bhattacharya, Ingele Casteels, Saddek Mohand-Said
المساهمون: Institut des Maladies Rares (France), Retina France, Fondation Voir et Entendre, Agence Nationale de la Recherche (France), Foundation Fighting Blindness, Région Ile-de-France, Association Française contre les Myopathies, National Institutes of Health (US), University of Zurich, Zeitz, Christina, Clinical sciences, Medical Genetics
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Gamma-Subunit, Male, Electroretinography/methods, Genotyping Techniques, Phenotypic Impact, Receptors, Metabotropic Glutamate, Receptors, G-Protein-Coupled, 11124 Institute of Medical Molecular Genetics, 0302 clinical medicine, Cone dystrophy, Night Blindness, Myopia, Missense mutation, Genetics(clinical), Cone Dystrophy, Exome, Genetics (clinical), Exome sequencing, Sanger sequencing, Congenital stationary night blindness, Genetics, 0303 health sciences, Muscular-Dystrophy, Channel Subunit, Bipolar Cells, Homozygote, Genotyping Techniques/methods, Receptors, Metabotropic Glutamate/genetics, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, 3. Good health, Phenotype, Mouse Retina, symbols, Proteoglycans, Female, Erratum, Myopia/genetics, Heterozygote, 2716 Genetics (clinical), mice, TRPM Cation Channels, 610 Medicine & health, Biology, Night Blindness/genetics, Polymorphism, Single Nucleotide, Retina, Frameshift mutation, Genetic Heterogeneity, 03 medical and health sciences, symbols.namesake, 1311 Genetics, Report, Electroretinography, medicine, Animals, Humans, Alleles, TRPM1, 030304 developmental biology, Retina/abnormalities, Protein, medicine.disease, Protein Structure, Tertiary, Proteoglycans/genetics, Cgmp-Phosphodiesterase, Complete Form, TRPM Cation Channels/genetics, 030221 ophthalmology & optometry, 570 Life sciences, biology, sense organs, mutation, Receptors, G-Protein-Coupled/genetics, exome, 030217 neurology & neurosurgery
وصف الملف: Whole_exome_sequencing_identifies_mutations_in_GPR179_leading_to_autosomal_recessive_complete_congenital_stationary_night_blindness.pdf - application/pdf; Print
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6
المؤلفون: Morad Roudbaraki, Anne-Sophie Borowiec, Yaroslav M. Shuba, Roman Skryma, Gabriel Bidaux, José A Fernández, Gilbert Lepage, Natalia Prevarskaya, Alexander Zholos, Loic Lemonnier, Matthieu Flourakis, Philippe Delcourt, Dmitri V. Gordienko, Benjamin Beck
المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA)
المصدر: Journal of Biological Chemistry
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2012, 287 (5), pp.2948-2962. ⟨10.1074/jbc.M111.270256⟩
The Journal of biological chemistry, 287 (5مصطلحات موضوعية: Gene isoform, Male, Prostatic Neoplasms -- genetics -- metabolism, [SDV]Life Sciences [q-bio], TRPM Cation Channels, Biology, Biochemistry, TRPC1, 03 medical and health sciences, Transient receptor potential channel, Cell Line, Tumor, TRPM8, Humans, Protein Isoforms, splice, Protein Isoforms -- genetics -- metabolism, Molecular Biology, Ion channel, 030304 developmental biology, 0303 health sciences, TRPM Cation Channels -- genetics -- metabolism, Protein Stability, 030302 biochemistry & molecular biology, Alternative splicing, Prostatic Neoplasms, Cell Biology, Sciences bio-médicales et agricoles, Alternative Splicing -- physiology, Cell biology, Protein Structure, Tertiary, Alternative Splicing, HEK293 Cells, Molecular Biophysics
وصف الملف: 2 full-text file(s): application/pdf; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7009c265b0c1841a851271ca331cc8a7
https://hal.archives-ouvertes.fr/hal-03060335 -
7مورد إلكتروني
المصدر: The Journal of biological chemistry, 287 (5
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Alternative Splicing -- physiology, Cell Line, Tumor, HEK293 Cells, Humans, Male, Prostatic Neoplasms -- genetics -- metabolism, Protein Isoforms -- genetics -- metabolism, Protein Stability, Protein Structure, Tertiary, TRPM Cation Channels -- genetics -- metabolism, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/123128 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL -
8مورد إلكتروني
المصدر: The Journal of clinical investigation, 117 (6
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Alternative Splicing, Base Sequence, Cell Differentiation, Cell Line, Tumor, Cell Membrane -- metabolism, Endoplasmic Reticulum -- metabolism, Epithelial Cells -- cytology -- metabolism, Humans, Male, Prostate -- cytology -- metabolism, Prostatic Neoplasms -- genetics -- metabolism -- pathology, Protein Isoforms -- genetics -- metabolism, RNA, Messenger -- genetics -- metabolism, RNA, Neoplasm -- genetics -- metabolism, RNA, Small Interfering -- genetics, Subcellular Fractions -- metabolism, TRPM Cation Channels -- genetics -- metabolism, Tumor Markers, Biological -- metabolism, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/123140/4/PMC1866249.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/123140 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL -
9مورد إلكتروني
المصدر: The Journal of clinical investigation, 117 (6
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Alternative Splicing, Base Sequence, Cell Differentiation, Cell Line, Tumor, Cell Membrane -- metabolism, Endoplasmic Reticulum -- metabolism, Epithelial Cells -- cytology -- metabolism, Humans, Male, Prostate -- cytology -- metabolism, Prostatic Neoplasms -- genetics -- metabolism -- pathology, Protein Isoforms -- genetics -- metabolism, RNA, Messenger -- genetics -- metabolism, RNA, Neoplasm -- genetics -- metabolism, RNA, Small Interfering -- genetics, Subcellular Fractions -- metabolism, TRPM Cation Channels -- genetics -- metabolism, Tumor Markers, Biological -- metabolism, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/123140/4/PMC1866249.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/123140 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
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