المؤلفون: Jeong, Jaekwang^{Aff1, IDs00018023050448_cor1}, Lee, Jongwon, Talaia, Gabriel, Kim, Wonnam, Song, Junho, Hong, Juhyeon, Yoo, Kwangmin, Gonzalez, David G., Athonvarangkul, Diana, Shin, Jaehun, Dann, Pamela, Haberman, Ann M., Kim, Lark Kyun, Ferguson, Shawn M., Choi, Jungmin, Wysolmerski, John^{Aff1, IDs00018023050448_cor16}

المصدر: Cellular and Molecular Life Sciences. 81(1)

المؤلفون: Mireia Borrajo, David Sedano, Aïda Palou, Víctor Giménez-Esbrí, Alejandro Barrallo-Gimeno, Jordi Llorens

المصدر: Frontiers in Cell and Developmental Biology, Vol 12 (2024)

مصطلحات موضوعية: vestibular sensory hair cell, type I and type II hair cells, osteopontin, calretinin, contactin-associated protein 1 (CASPR1), plasma membrane calcium-transporting ATPase 2 (PMCA2), Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2024.1404894/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/635785c6bfc64818b862fe151fd8500c

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المؤلفون: Satoe Takahashi, Willy Sun, Yingjie Zhou, Kazuaki Homma, Bechara Kachar, Mary Ann Cheatham, Jing Zheng

المصدر: Frontiers in Cellular Neuroscience, Vol 12 (2018)

مصطلحات موضوعية: prestin, outer hair cells, efferent innervation, PMCA2, KCNQ4, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fncel.2018.00211/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/1406ca1212c64b7ba1d5dc7e25b26a41

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المؤلفون: Smits, J.J., Oostrik, J., Beynon, A.J., Kant, S.G., Gans, P.A.M.D., Rotteveel, L.J.C., Wassink-Ruiter, J.S.K., Free, R.H., Maas, S.M., Kamp, J. van de, Merkus, P., Koole, W., Feenstra, I., Admiraal, R.J.C., Lanting, C.P., Schraders, M., Yntema, H.G., Pennings, R.J.E., Kremer, H., DOOFNL Consortium

المساهمون: Human genetics, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Complex Trait Genetics, Otolaryngology / Head & Neck Surgery, APH - Quality of Care, APH - Societal Participation & Health, Perceptual and Cognitive Neuroscience (PCN), Human Genetics

المصدر: Human Genetics, 138(1), 61-72
Human Genetics, 138(1), 61-72. Springer Verlag
Human Genetics, 138, 61-72
Smits, J J, Oostrik, J, Beynon, A J, Kant, S G, de Koning Gans, P A M, Rotteveel, L J C, Klein Wassink-Ruiter, J S, Free, R H, Maas, S M, van de Kamp, J, Merkus, P, Koole, W, Feenstra, I, Admiraal, R J C, Lanting, C P, Schraders, M, Yntema, H G, Pennings, R J E, Kremer, H & DOOFNL Consortium 2019, ' De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment ', Human Genetics, vol. 138, no. 1, pp. 61-72 . https://doi.org/10.1007/s00439-018-1965-1
HUMAN GENETICS, 138(1), 61-72. SPRINGER
Human genetics, 138(1), 61-72. Springer Verlag
Human Genetics
Human Genetics, 138, 1, pp. 61-72

مصطلحات موضوعية: Male, Stereocilia (inner ear), MOUSE, PHENOTYPE, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], CDH23, ISOFORM-2, Missense mutation, Child, Progressive hearing impairment, Genetics (clinical), Exome sequencing, Original Investigation, 0303 health sciences, 030305 genetics & heredity, Middle Aged, Prognosis, Digenic inheritance, Pedigree, 3. Good health, Child, Preschool, Female, DEAFNESS, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Heterozygote, Adolescent, PUMP, MYO6, INTERACTS, Biology, Plasma Membrane Calcium-Transporting ATPases, Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Genetics, otorhinolaryngologic diseases, Humans, Genetic Predisposition to Disease, Hearing Loss, Aged, 030304 developmental biology, GENE, POINT MUTATION, Ion homeostasis, ATP2B2, Mutation, Immunology, PMCA2, Biomarkers, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa2a9e19ff4836d8f13fe533df77d22
https://doi.org/10.1007/s00439-018-1965-1

المؤلفون: Carafoli, Ernesto

المصدر: Science China Life Sciences. August 2011 54(8):686-690

المؤلفون: Perdigão, Sofia Alexandra Pardal

المساهمون: Suarez, Maria Fernandez, Rocha, João Pedro Fidalgo

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Ciências da Saúde, Mestrado Integrado - 2019, Lípidos, PMCA2, ABCC3, NPC

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::dae3c59016eaf30aeda58d73961dd988