المؤلفون: Liebe, Hendrik, Liebe, Franziska, Sponder, Gerhard, Hedtrich (nee Küchler), Sarah, Stumpff, Friederike

المصدر: http://lobid.org/resources/99370672927306441Test#!, 473(12):1859-1884.

مصطلحات موضوعية: TRPV3, Calcium Signaling/physiology [MeSH], Xenopus laevis/metabolism [MeSH], Cell Line [MeSH], Olmsted syndrome, Colon, TRPV Cation Channels/metabolism [MeSH], Biological Transport/physiology [MeSH], Ammonia, Keratinocytes/metabolism [MeSH], Ion channels, receptors and transporters, Cell Membrane/metabolism [MeSH], Oocytes/metabolism [MeSH], Skin, Epithelium/metabolism [MeSH], Humans [MeSH], Animals [MeSH], NH, Hydrogen-Ion Concentration [MeSH], Mutation/physiology [MeSH], Patch-Clamp Techniques/methods [MeSH], Cell Membrane Permeability/physiology [MeSH], Ammonia/metabolism [MeSH], HEK293 Cells [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6446924Test; https://doi.org/10.1007/s00424-021-02616-0Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599221Test/

الإتاحة: https://doi.org/10.1007/s00424-021-02616-0Test
https://repository.publisso.de/resource/frl:6446924Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599221Test/

المؤلفون: Sheeba, Vasu, Gu, Huaiyu, Sharma, Vijay K, O'Dowd, Diane K, Holmes, Todd C

المصدر: Journal of neurophysiology. 99(2)

مصطلحات موضوعية: Action Potentials: physiology, Animals, Animals, Genetically Modified, Circadian Rhythm: physiology, Cryptochromes, Dose-Response Relationship, Radiation, Drosophila, Drosophila Proteins: genetics, metabolism, Electric Stimulation, Eye Proteins: genetics, metabolism, Flavoproteins: pharmacology, Green Fluorescent Proteins: genetics, metabolism, Light, Membrane Potentials: physiology, Mutation: physiology, Neurons: physiology, Patch-Clamp Techniques, Potassium Channels: genetics, physiology, Receptors, G-Protein-Coupled: genetics, metabolism, Sodium Channel Blockers: pharmacology, Suprachiasmatic Nucleus: cytology, Tetrodotoxin: pharmacology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5w287772Test

المؤلفون: Dell'Aglio, Elisa, Dalvit, Ivan, Loubery, Sylvain Philippe, Fitzpatrick, Thérésa Bridget

المصدر: ISSN: 1471-2229 ; BMC plant biology, vol. 19, no. 1 (2019) 464.

مصطلحات موضوعية: info:eu-repo/classification/ddc/580, Arabidopsis thaliana, CRISPR-Cas9, Heat shock element, Heat-stress, Mutant alleles, PDX1.2, T-DNA insertion, Viability, Vitamin B6, Arabidopsis / physiology, Arabidopsis Proteins / genetics, Arabidopsis Proteins / metabolism, Base Sequence, CRISPR-Cas Systems, Gene Expression Regulation, Plant / genetics, Hot Temperature, Loss of Function Mutation / physiology, Phenotype

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31684863; https://archive-ouverte.unige.ch/unige:168732Test; unige:168732

الإتاحة: https://doi.org/10.1186/s12870-019-2071-9Test
https://archive-ouverte.unige.ch/unige:168732Test

المؤلفون: Lee, Daewoo, O'Dowd, Diane K

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience. 20(6)

مصطلحات موضوعية: Animals, Bucladesine: pharmacology, Cells, Cultured, Cholinergic Fibers: physiology, Cyclic AMP: metabolism, Drosophila: genetics, Excitatory Postsynaptic Potentials: drug effects, physiology, Memory: physiology, Mutation: physiology, Neuronal Plasticity: genetics, Neurons: cytology, drug effects, physiology, Phenotype, Synaptic Transmission: genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9831n2ccTest

المؤلفون: Yeyati, Patricia L, Schiller, Rachel, Mali, Girish, Kasioulis, Ioannis, Kawamura, Akane, Adams, Ian R, Playfoot, Christopher, Gilbert, Nick, van Heyningen, Veronica, Wills, Jimi, von Kriegsheim, Alex, Finch, Andrew, Sakai, Juro, Schofield, Christopher J, Jackson, Ian J, Mill, Pleasantine

المصدر: Yeyati , P L , Schiller , R , Mali , G , Kasioulis , I , Kawamura , A , Adams , I R , Playfoot , C , Gilbert , N , van Heyningen , V , Wills , J , von Kriegsheim , A , Finch , A , Sakai , J , Schofield , C J , Jackson , I J & Mill , P 2017 , ' KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability ' , The Journal of cell biology , vol. 216 , no. 4 , pp. 999-1013 ....

مصطلحات موضوعية: Actins/metabolism, Animals, Biological Transport/physiology, Cell Line, Cilia/metabolism, Flagella/metabolism, Gene Expression/physiology, Histone Demethylases/metabolism, Humans, Jumonji Domain-Containing Histone Demethylases/metabolism, Mice, Morphogenesis/physiology, Mutation/physiology, Phenotype

وصف الملف: application/pdf

العلاقة: https://research-information.bris.ac.uk/en/publications/99296957-df16-4da2-9a4a-5d8e37197796Test

الإتاحة: https://doi.org/10.1083/jcb.201607032Test
https://hdl.handle.net/1983/99296957-df16-4da2-9a4a-5d8e37197796Test
https://research-information.bris.ac.uk/en/publications/99296957-df16-4da2-9a4a-5d8e37197796Test
https://research-information.bris.ac.uk/ws/files/311325321/jcb_201607032.pdfTest

المؤلفون: Delplanque, Jérôme, Devos, David, Huin, Vincent, Genet, Alexandre, Sand, Olivier, Moreau, Caroline, Goizet, Cyril, Charles, Perrine, Anheim, Mathieu, Monin, Marie Lorraine, Buée, Luc, Destée, Alain, Grolez, Guillaume, Delmaire, Christine, Dujardin, Kathy, Dellacherie, Delphine, Brice, Alexis, Stevanin, Giovanni, Strubi-Vuillaume, Isabelle, Durr, Alexandra, Sablonnière, Bernard

المساهمون: Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (EGENODIA (GI3M)), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Département de neurologie Lille, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Pôle de Biologie Pathologie Génétique CHU Lille, Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Hôpital Pellegrin-Service de Génétique Médicale du CHU de Bordeaux, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Departement de Neuroradiologie Lille, Service de neurologie pédiatrique CHU Lille, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), ANR-10-EQPX-0007,LIGAN PM,Plate forme Lilloise de séquençage du génome humain pour une médecine personnalisée(2010)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: Spinocerebellar ataxia, TMEM240, exome, MESH: Adolescent, MESH: Age of Onset, MESH: Spinocerebellar Degenerations / psychology, MESH: Young Adult, MESH: Intellectual Disability / psychology, MESH: Child, Preschool, MESH: Chromosomes, Human, Pair 1 / genetics, MESH: Cognition Disorders / genetics, MESH: Exome / genetics, MESH: Cognition Disorders / psychology, MESH: Cohort Studies, MESH: Conserved Sequence, MESH: Mutation / physiology, MESH: Female, MESH: France, MESH: Genetic Linkage, MESH: Intelligence Tests, MESH: Humans, MESH: Infant, MESH: Intellectual Disability / genetics, MESH: Amino Acid Sequence, MESH: Introns, MESH: Male, MESH: Neuropsychological Tests

العلاقة: info:eu-repo/semantics/altIdentifier/arxiv/2011.10771; info:eu-repo/semantics/altIdentifier/pmid/25070513; inserm-03017555; https://inserm.hal.science/inserm-03017555Test; https://inserm.hal.science/inserm-03017555/documentTest; https://inserm.hal.science/inserm-03017555/file/Delplanque.Brain.2014.Author.version.pdfTest; ARXIV: 2011.10771; PUBMED: 25070513

الإتاحة: https://doi.org/10.1093/brain/awu202Test
https://inserm.hal.science/inserm-03017555Test
https://inserm.hal.science/inserm-03017555/documentTest
https://inserm.hal.science/inserm-03017555/file/Delplanque.Brain.2014.Author.version.pdfTest

المؤلفون: Magnani, D., Hasenpusch-Theil, K., Benadiba, C., Yu, T., Basson, M.A., Price, D.J., Lebrand, C., Theil, T.

المصدر: Cerebral Cortex, vol. 24, no. 1, pp. 186-198

مصطلحات موضوعية: Agenesis of Corpus Callosum/genetics, Agenesis of Corpus Callosum/physiopathology, Brain/growth & development, Corpus Callosum/embryology, Corpus Callosum/growth & development, Intercellular Signaling Peptides and Proteins/biosynthesis, Intercellular Signaling Peptides and Proteins/physiology, Kruppel-Like Transcription Factors/genetics, Kruppel-Like Transcription Factors/physiology, Mutation/physiology, Nerve Tissue Proteins/biosynthesis, Nerve Tissue Proteins/genetics, Nerve Tissue Proteins/physiology, Polydactyly/genetics, Receptors, Fibroblast Growth Factor/physiology, Telencephalon/embryology, Telencephalon/growth & development, Up-Regulation/physiology, Wnt Signaling Pathway/physiology, beta Catenin/physiology

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23042737; info:eu-repo/semantics/altIdentifier/pissn/1047-3211; info:eu-repo/semantics/altIdentifier/eissn/1460-2199; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F31C4951A6151; https://serval.unil.ch/notice/serval:BIB_F31C4951A615Test; urn:issn:1047-3211; https://serval.unil.ch/resource/serval:BIB_F31C4951A615.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F31C4951A6151Test

الإتاحة: https://doi.org/10.1093/cercor/bhs303Test
https://serval.unil.ch/notice/serval:BIB_F31C4951A615Test
https://serval.unil.ch/resource/serval:BIB_F31C4951A615.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F31C4951A6151Test

المؤلفون: Magnani, Dario, Hasenpusch-Theil, Kerstin, Benadiba, Carine, Yu, Tian, Basson, M Albert, Price, David J, Lebrand, Cécile, Theil, Thomas

المصدر: Cerebral Cortex (new York, N.y. : 1991) 24(1) 186-198

مصطلحات موضوعية: Agenesis of Corpus Callosum/genetics, Agenesis of Corpus Callosum/physiopathology, Brain/growth & development, Corpus Callosum/embryology, Corpus Callosum/growth & development, Intercellular Signaling Peptides and Proteins/biosynthesis, Intercellular Signaling Peptides and Proteins/physiology, Kruppel-Like Transcription Factors/genetics, Kruppel-Like Transcription Factors/physiology, Mutation/physiology, Nerve Tissue Proteins/biosynthesis, Nerve Tissue Proteins/genetics, Nerve Tissue Proteins/physiology, Polydactyly/genetics, Receptors, Fibroblast Growth Factor/physiology, Telencephalon/embryology, Telencephalon/growth & development, Up-Regulation/physiology, Wnt Signaling Pathway/physiology, beta Catenin/physiology

العلاقة: pmcid:PMC3862269; https://zenodo.org/communities/fbm_chuvTest; https://zenodo.org/record/161815Test; https://doi.org/10.1093/cercor/bhs303Test; oai:zenodo.org:161815

الإتاحة: https://doi.org/10.1093/cercor/bhs303Test
https://zenodo.org/record/161815Test

المؤلفون: Ben Aissa, Assma, Mach, Nicolas

المصدر: ISSN: 1660-9379 ; Revue médicale suisse, vol. 8, no. 342 (2012) p. 1108-1111.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Carcinoma, Non-Small-Cell Lung / diagnosis, Non-Small-Cell Lung / epidemiology, Non-Small-Cell Lung / genetics, Non-Small-Cell Lung / therapy, Female, Humans, Lung Neoplasms / diagnosis, Lung Neoplasms / epidemiology, Lung Neoplasms / genetics, Lung Neoplasms / therapy, Male, Mutation / physiology, Prognosis, Sex Characteristics, Treatment Outcome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22734179; https://archive-ouverte.unige.ch/unige:161369Test; unige:161369

الإتاحة: https://archive-ouverte.unige.ch/unige:161369Test

المؤلفون: Danielsson, O

المصدر: Medicinsk Vetenskap vid Karolinska Institutet. (1):32