المؤلفون: Ksenia A. Aaron, Katja Pekrun, Patrick J. Atkinson, Sara E. Billings, Julia M. Abitbol, Ina A. Lee, Yasmin Eltawil, Yuan-Siao Chen, Wuxing Dong, Rick F. Nelson, Mark A. Kay, Alan G. Cheng

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 413-428 (2023)

مصطلحات موضوعية: Tmprss3, cochlea, hair cells, hearing loss, supporting cells, gene therapy, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050123001183Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/12dd1baf9a7e41769ec3b2c66b940104Test

المؤلفون: M. L. A. Fehrmann, W. J. Huinck, M. E. G. Thijssen, L. Haer-Wigman, H. G. Yntema, L. J. C. Rotteveel, J. C. C. Widdershoven, T. Goderie, M. F. van Dooren, E. H. Hoefsloot, M. P. van der Schroeff, E. A. M. Mylanus, C. P. Lanting, R. J. E. Pennings

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Physiology, Immunology, Cancer, Mental Health, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Cochlear implantation, Hereditary hearing loss, Sensorineural hearing loss, TMPRSS3, Cochlear implant outcomes, Clinical decision-making, Disease management

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Stable_long-term_outcomes_after_cochlear_implantation_in_subjects_with_TMPRSS3_associated_hearing_loss_a_retrospective_multicentre_study/24844595Test

الإتاحة: https://doi.org/10.6084/m9.figshare.24844595.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Stable_long-term_outcomes_after_cochlear_implantation_in_subjects_with_TMPRSS3_associated_hearing_loss_a_retrospective_multicentre_study/24844595Test

المؤلفون: Du, Wan, Ergin, Volkan, Loeb, Corena, Huang, Mingqian, Silver, Stewart, Armstrong, Ariel Miura, Huang, Zaohua, Gurumurthy, Channabasavaiah B., Staecker, Hinrich, Liu, Xuezhong, Chen, Zheng-Yi

المصدر: Journal Articles: Genetics, Cell Biology & Anatomy

مصطلحات موضوعية: AAV, DFNB10, DFNB8, TMPRSS3, aged mouse, gene therapy, genetic hearing loss, hair cells, recessive, spiral ganglion neurons, Medical Anatomy, Medical Cell Biology, Medical Genetics

وصف الملف: application/pdf

العلاقة: https://digitalcommons.unmc.edu/com_gcba_articles/52Test; https://digitalcommons.unmc.edu/context/com_gcba_articles/article/1051/viewcontent/Rescue_of_auditory_function_by_a_single_administration.pdfTest; https://digitalcommons.unmc.edu/context/com_gcba_articles/article/1051/filename/0/type/additional/viewcontent/Rescue_of_auditory_function_by_a_single_administration_Supplement1.pdfTest; https://digitalcommons.unmc.edu/context/com_gcba_articles/article/1051/filename/1/type/additional/viewcontent/Rescue_of_auditory_function_by_a_single_administration_Supplement2.xlsxTest; https://digitalcommons.unmc.edu/context/com_gcba_articles/article/1051/filename/2/type/additional/viewcontent/Rescue_of_auditory_function_by_a_single_administration_Supplement3.pdfTest

الإتاحة: https://doi.org/10.1016/j.ymthe.2023.05.005Test
https://digitalcommons.unmc.edu/com_gcba_articles/52Test
https://digitalcommons.unmc.edu/context/com_gcba_articles/article/1051/viewcontent/Rescue_of_auditory_function_by_a_single_administration.pdfTest
https://digitalcommons.unmc.edu/context/com_gcba_articles/article/1051/filename/0/type/additional/viewcontent/Rescue_of_auditory_function_by_a_single_administration_Supplement1.pdfTest
https://digitalcommons.unmc.edu/context/com_gcba_articles/article/1051/filename/1/type/additional/viewcontent/Rescue_of_auditory_function_by_a_single_administration_Supplement2.xlsxTest
https://digitalcommons.unmc.edu/context/com_gcba_articles/article/1051/filename/2/type/additional/viewcontent/Rescue_of_auditory_function_by_a_single_administration_Supplement3.pdfTest

المؤلفون: Fehrmann, M. L. A., Huinck, W. J., Thijssen, M. E. G., Haer-Wigman, L., Yntema, H. G., Rotteveel, L. J. C., Widdershoven, J. C. C., Goderie, T., van Dooren, M. F., Hoefsloot, E. H., van der Schroeff, M. P., Mylanus, E. A. M., Lanting, C. P., Pennings, R. J. E.

المصدر: Fehrmann , M L A , Huinck , W J , Thijssen , M E G , Haer-Wigman , L , Yntema , H G , Rotteveel , L J C , Widdershoven , J C C , Goderie , T , van Dooren , M F , Hoefsloot , E H , van der Schroeff , M P , Mylanus , E A M , Lanting , C P , Pennings , R J E & DOOFNL consortium 2023 , ' Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss : a retrospective multicentre ....

مصطلحات موضوعية: Cochlear implantation, Hereditary hearing loss, Sensorineural hearing loss, TMPRSS3, Cochlear implant outcomes, Clinical decision-making, Disease management, ENLARGED VESTIBULAR AQUEDUCT, NON-SYNDROMIC DEAFNESS, MUTATIONS, GENE, PRESERVATION, SPEECH, PERFORMANCE, PHENOTYPE, CONSENSUS, VARIANTS

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/7de6b1f6-3688-489b-9a4d-93adb296e967Test

الإتاحة: https://doi.org/10.1186/s40463-023-00680-3Test
https://cris.maastrichtuniversity.nl/en/publications/7de6b1f6-3688-489b-9a4d-93adb296e967Test

المؤلفون: Aaron, Ksenia A., Pekrun, Katja, Atkinson, Patrick J., Billings, Sara E., Abitbol, Julia M., Lee, Ina A., Eltawil, Yasmin, Chen, Yuan-Siao, Dong, Wuxing, Nelson, Rick F., Kay, Mark A., Cheng, Alan G.

المساهمون: Otolaryngology -- Head and Neck Surgery, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Tmprss3, Cochlea, Hair cells, Hearing loss, Supporting cells, Gene therapy

وصف الملف: application/pdf

العلاقة: Molecular Therapy - Methods & Clinical Development; Aaron KA, Pekrun K, Atkinson PJ, et al. Selection of viral capsids and promoters affects the efficacy of rescue of Tmprss3-deficient cochlea. Mol Ther Methods Clin Dev. 2023;30:413-428. Published 2023 Aug 11. doi:10.1016/j.omtm.2023.08.004; https://hdl.handle.net/1805/39128Test

الإتاحة: https://doi.org/10.1016/j.omtm.2023.08.004Test
https://hdl.handle.net/1805/39128Test

المؤلفون: Jingwen Liang, Zhuoheng Yu, Zhangxing Wang, Jianxia Chen, Yihuan Liu, Zhaoqing Yin, Ruihuan Xu

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: TMPRSS3, homozygous, non-syndromic hearing loss, whole-exome sequencing, mutation, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.1032659/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/42ef3fe051d2499282bc688a54d68b0dTest

المؤلفون: Liu, Wei, Loewenheim, Hubert, Santi, Peter A., Glueckert, Rudolf, Schrott-Fischer, Annelies, Rask-Andersen, Helge

المصدر: OTOSTEM Cell and Tissue Research. 372(3):445-456

مصطلحات موضوعية: Cochlea, Trans-membrane Serine Protease 3 (TMPRSS3), Immunohistochemistry, Super-resolution structured illumination microscopy (SR-SIM), Human

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-356851Test
https://doi.org/10.1007/s00441-018-2793-2Test
https://uu.diva-portal.org/smash/get/diva2:1239298/FULLTEXT01.pdfTest

المؤلفون: In Seok Moon, Andrew R. Grant, Varun Sagi, Heidi L. Rehm, Konstantina M. Stankovic

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: TMPRSS3, cochlear implantation, sensorineural hearing loss, genetic counseling, hereditary hearing loss, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.780874/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/60d3ab31f1e84ba7ba640aa84a239115Test

المؤلفون: Monika Ołdak, Urszula Lechowicz, Agnieszka Pollak, Dominika Oziębło, Henryk Skarżyński

المصدر: Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Hearing loss, Digenic inheritance, High throughput sequencing, GJB2, TMPRSS3, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12967-019-2018-9Test; https://doaj.org/toc/1479-5876Test

الوصول الحر: https://doaj.org/article/fa61e26840694d5da1c60914aa8694e9Test

المؤلفون: Swee-Hee Wong, Yung-Chang Yen, Shuan-Yow Li, Jiann-Jou Yang

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 7; Pages: 2382

مصطلحات موضوعية: TMPRSS3, mutation, hearing loss, sGASP, xenopus oocyte

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms21072382Test

الإتاحة: https://doi.org/10.3390/ijms21072382Test