المؤلفون: Alexandre Reymond, Paolo Gasparini, Jacqueline Chrast, Hannie Kremer, Sissy Bassani, Giorgia Girotto, Jiddeke M. van de Kamp, Massimiliano Cocca, Nicolas Guex, Benjamin Delprat, Mireille Rossel, Francesca Amati, Flavio Faletra, Heiko Locher, Yoan Arribat, Sylvain Pradervand, Alban Ziegler, Jeroen Smits, Sandrine Marlin, Norine Voisin, Giuliana Giannuzzi, Tangui Maurice, Anna Morgan, Roxane Machavoine, Edward S A van Beelen, Nicolas Chatron

المساهمون: Clinical genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Bassani, Sissy, van Beelen, Edward, Rossel, Mireille, Voisin, Norine, Morgan, Anna, Arribat, Yoan, Chatron, Nicola, Chrast, Jacqueline, Cocca, Massimiliano, Delprat, Benjamin, Faletra, Flavio, Giannuzzi, Giuliana, Guex, Nicola, Machavoine, Roxane, Pradervand, Sylvain, Smits, Jeroen J, van de Kamp, Jiddeke M, Ziegler, Alban, Amati, Francesca, Marlin, Sandrine, Kremer, Hannie, Locher, Heiko, Maurice, Tangui, Gasparini, Paolo, Girotto, Giorgia, Reymond, Alexandre

المصدر: Bassani, S, van Beelen, E, Rossel, M, Voisin, N, Morgan, A, Arribat, Y, Chatron, N, Chrast, J, Cocca, M, Delprat, B, Faletra, F, Giannuzzi, G, Guex, N, Machavoine, R, Pradervand, S, Smits, J J, van de Kamp, J M, Ziegler, A, Amati, F, Marlin, S, Kremer, H, Locher, H, Maurice, T, Gasparini, P, Girotto, G & Reymond, A 2021, ' Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss ', Human Molecular Genetics, vol. 30, no. 19, pp. 1785-1796 . https://doi.org/10.1093/hmg/ddab145Test
Human Molecular Genetics, 30(19), 1785-1796. OXFORD UNIV PRESS
Human Molecular Genetics, 30(19), 1785-1796. Oxford University Press
Human Molecular Genetics, 30, 19, pp. 1785-1796
Human Molecular Genetics, 30, 1785-1796

مصطلحات موضوعية: 0301 basic medicine, Reflex, Startle, Hydrolases, Hearing loss, Spiral limbus, ubiquitin hydrolase, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Hereditary hearing loss, USP48, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, otorhinolaryngologic diseases, Animals, Humans, Missense mutation, Inner ear, Hearing Loss, Molecular Biology, Zebrafish, Genetics (clinical), Exome sequencing, Spiral ganglion, biology, Ubiquitin, Cochlear nerve, Hereditary hearing lo, General Medicine, biology.organism_classification, 030104 developmental biology, medicine.anatomical_structure, Ubiquitin-Specific Proteases, sense organs, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f04c37bdd5fbeef500c5817cdbe20bcTest
https://doi.org/10.1093/hmg/ddab145Test

المؤلفون: Li Zhang, Xuewen Wu, Emil C. Muly, Xi Lin, Wenxue Tang

المصدر: Biochemical and Biophysical Research Communications. 518:357-361

مصطلحات موضوعية: Male, 0301 basic medicine, Spiral limbus, Guinea Pigs, Biophysics, Connexin, Biology, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Connexin 30, otorhinolaryngologic diseases, medicine, Animals, Molecular Biology, Spiral ganglion, Cochlea, Microscopy, Confocal, Gap junction, Gap Junctions, Cell Biology, Macaca mulatta, Cell biology, Connexin 26, Basilar membrane, 030104 developmental biology, medicine.anatomical_structure, Organ of Corti, 030220 oncology & carcinogenesis, Spiral ligament, sense organs

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d524cee519057eb609147efd4fda32d9Test
https://doi.org/10.1016/j.bbrc.2019.08.063Test

المؤلفون: Hong Liu, Douglas Forrest, Lily Ng, Ye Liu

المصدر: Endocrinology

مصطلحات موضوعية: Male, medicine.medical_specialty, Cell type, Spiral limbus, Deiodinase, DIO2, Mice, Transgenic, Biology, Iodide Peroxidase, Gene Expression Regulation, Enzymologic, Mice, Endocrinology, Genes, Reporter, Internal medicine, Fibrocyte, otorhinolaryngologic diseases, medicine, Animals, Cell Lineage, Gene Knock-In Techniques, Cochlea, Osteoblasts, Integrases, Gene Expression Regulation, Developmental, Fibroblasts, Cell biology, Mice, Inbred C57BL, medicine.anatomical_structure, Animals, Newborn, Cell Tracking, Organ of Corti, Spiral ligament, biology.protein, Female, sense organs, Single-Cell Analysis, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cc6d519efb85d4accb9c2f26a526789Test
https://doi.org/10.1210/endocr/bqab179Test

المؤلفون: Han Jiang, Xiaohan Wang, Allan Kachelmeier, Jinhui Zhang, Xiaorui Shi, Ivan A. Lopez

المصدر: Hearing Research. 371:105-116

مصطلحات موضوعية: 0301 basic medicine, Aging, Pathology, medicine.medical_specialty, Spiral limbus, Spiral Lamina, Mice, Transgenic, Biology, Horseradish peroxidase, Mice, 03 medical and health sciences, 0302 clinical medicine, Microscopy, Electron, Transmission, Peripheral Nervous System, medicine, Animals, Inner ear, Spiral ganglion, Microscopy, Confocal, Macrophages, Sensory Systems, Peripheral, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, Ageing, Peripheral nervous system, Microvessels, biology.protein, sense organs, Pericytes, Spiral Ganglion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f397111acdf9504efb10e407d08fc6bTest
https://doi.org/10.1016/j.heares.2018.11.012Test

المؤلفون: Takahiro Maeba, Shaoying Tang, Toshitaka Oohashi, Toru Miyoshi, Ryusuke Momota, Tomoko Yonezawa, Yasuko Tomono, Yukihide Maeda, Mitsuaki Ono

المصدر: PLoS ONE
PLoS ONE, Vol 16, Iss 4, p e0249909 (2021)

مصطلحات موضوعية: Male, Pathology, Otology, Immunostaining, Deafness, Congenital hearing loss, Biochemistry, Nervous System, Mice, Medicine and Health Sciences, Missense mutation, Nerve Tissue, Hearing Disorders, Mice, Knockout, Staining, Multidisciplinary, Animal Models, Cochlea, Phenotype, Experimental Organism Systems, Connective Tissue, Inner Ear, Medicine, medicine.symptom, Anatomy, Research Article, Collagen Type IV, medicine.medical_specialty, Missense Mutation, Hearing loss, Spiral limbus, Science, Mutation, Missense, Mouse Models, Biology, Research and Analysis Methods, Model Organisms, medicine, otorhinolaryngologic diseases, Genetics, Animals, Humans, Absolute threshold of hearing, Ligaments, Point mutation, Biology and Life Sciences, Proteins, Auditory Threshold, Cochlear malformation, X-Ray Microtomography, Mice, Inbred C57BL, Disease Models, Animal, Biological Tissue, Otorhinolaryngology, Ears, Specimen Preparation and Treatment, Mutation, Animal Studies, Ganglia, sense organs, Protein Multimerization, Collagens, Head

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33f0053bab6bfda74019bda2b7fa803fTest
https://pubmed.ncbi.nlm.nih.gov/33848312Test

المؤلفون: Guy Van Camp, Peter Ponsaerts, Dorien Verdoodt, Vincent Van Rompaey

المصدر: Hearing research

مصطلحات موضوعية: 0301 basic medicine, Genetically modified mouse, Spiral limbus, Hearing Loss, Sensorineural, Mice, Transgenic, Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, otorhinolaryngologic diseases, medicine, Animals, Humans, Inner ear, Gene, Genetics, Extracellular Matrix Proteins, medicine.disease, Phenotype, Sensory Systems, Pathophysiology, 030104 developmental biology, medicine.anatomical_structure, Ear, Inner, Mutation, Spiral ligament, Sensorineural hearing loss, Human medicine, sense organs, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91c69858352635289e71df304ef493daTest
https://doi.org/10.1016/j.heares.2020.108162Test

المؤلفون: Ryusuke Shodo, Daisuke Koga, Manabu Hayatsu, Tatsuo Ushiki, Arata Horii

المصدر: Biomedical Research. 38:239-248

مصطلحات موضوعية: 0301 basic medicine, Chemistry, Endolymph, Spiral limbus, Gap junction, Uranyl acetate, General Medicine, Anatomy, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Spiral ligament, otorhinolaryngologic diseases, medicine, Ultrastructure, Biophysics, Inner ear, sense organs, 030217 neurology & neurosurgery, Cochlea

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::95dcc53afa3eb9cf646f5fa1a997dbc8Test
https://doi.org/10.2220/biomedres.38.239Test

المؤلفون: Mattia Carraro, Robert V. Harrison, Elaine Hillas, Ali Almishaal, Matthew A. Firpo, Albert H. Park

المصدر: Journal of the Association for Research in Otolaryngology. 18:263-273

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Endocochlear potential, Spiral limbus, Hearing loss, Otoacoustic emission, Biology, Corrosion Casting, Congenital hearing loss, 03 medical and health sciences, 0302 clinical medicine, otorhinolaryngologic diseases, medicine, Animals, Inner ear, Hearing Loss, 030223 otorhinolaryngology, Mice, Inbred BALB C, Sensory Systems, Capillaries, Cochlea, 030104 developmental biology, Auditory brainstem response, medicine.anatomical_structure, Otorhinolaryngology, Cytomegalovirus Infections, Spiral ligament, Microscopy, Electron, Scanning, sense organs, medicine.symptom, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fc4f0e7fef6140d6780c0069944ba20Test
https://doi.org/10.1007/s10162-016-0606-4Test

المؤلفون: Stefan Münkner, Tobias Eckrich, Jutta Engel, Thore Schade-Mann

المصدر: Hearing research. 389

مصطلحات موضوعية: 0301 basic medicine, Male, P2Y receptor, Time Factors, Tectorial Membrane, Spiral limbus, Tectorial membrane, Stimulation, Uridine Triphosphate, 03 medical and health sciences, Mice, 0302 clinical medicine, Adenosine Triphosphate, otorhinolaryngologic diseases, medicine, Morphogenesis, Animals, Calcium Signaling, Cochlea, Microscopy, Confocal, Chemistry, Age Factors, Sensory Systems, Epithelium, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Animals, Newborn, Microscopy, Fluorescence, Organ of Corti, Calcium, Female, sense organs, 030217 neurology & neurosurgery, Intracellular

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bfd8b24c1f0f60fca11708b358d5642Test
https://pubmed.ncbi.nlm.nih.gov/32120242Test

المؤلفون: Biswas Neupane, Douglas E. Vetter, Kathleen T. Yee, Fengwei Bai

المصدر: Hear Res

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Pathology, medicine.medical_specialty, Hearing loss, Spiral limbus, Population, Article, Zika virus, Mice, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, otorhinolaryngologic diseases, medicine, Animals, Inner ear, Hearing Loss, education, Spiral ganglion, Cochlea, education.field_of_study, biology, Zika Virus Infection, Zika Virus, medicine.disease, biology.organism_classification, Sensory Systems, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Ear, Inner, Cytomegalovirus Infections, Female, sense organs, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b29043170d414205e37e9109dce21e6eTest
https://doi.org/10.1016/j.heares.2020.108000Test