المؤلفون: Nelson Chen, Hane Lee, Angela H. Kim, Pei-Kang Liu, Eugene Yu-Chuan Kang, Yun-Ju Tseng, Go Hun Seo, Rin Khang, Laura Liu, Kuan-Jen Chen, We-Chi Wu, Meng-Chang Hsiao, Nan-Kai Wang

المصدر: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Usher syndrome type 1F (USH1F), PCDH15, Protocadherin-15, Loss of function, Nonsense-mediated decay, Syndromic retinitis pigmentosa, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2415Test

الوصول الحر: https://doaj.org/article/ff5882bf3ebc461ab4ab7b40476c4912Test

المؤلفون: Huang, Wei, Bhaduri, Aparna, Velmeshev, Dmitry, Wang, Shaohui, Wang, Li, Rottkamp, Catherine A, Alvarez-Buylla, Arturo, Rowitch, David H, Kriegstein, Arnold R

المصدر: Cell. 182(3)

مصطلحات موضوعية: Cerebral Cortex, Cells, Cultured, Humans, Cadherins, RNA, Small Interfering, Immunohistochemistry, Cell Proliferation, Neurogenesis, HEK293 Cells, Single-Cell Analysis, Ependymoglial Cells, White Matter, ErbB Receptors, Cadherin Related Proteins, Oligodendrocyte Precursor Cells, RNA-Seq, EGFR, OPC, PCDH15, cortical expansion, oligodendrogenesis, self-repulsion, Neurosciences, Regenerative Medicine, Stem Cell Research - Nonembryonic - Human, Stem Cell Research, Stem Cell Research - Nonembryonic - Non-Human, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3xd3c8nwTest

المؤلفون: Ziying Yang, Minhong Huang, Xiuxiu Wei, Jun Sun, Fuping Zhang

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)

مصطلحات موضوعية: case report, deep‐intronic variant, PCDH15, splicing, whole genome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/e0eee93ec9704402bbb8282c9b9c0c99Test

المؤلفون: Raidah Albaradie, Mohammad Uzair, Shahid Bashir

المصدر: Brain Disorders, Vol 9, Iss , Pp 100064- (2023)

مصطلحات موضوعية: PCDH15, Clinical manifestations, Gene variations, Development delay, Usher syndrome, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S266645932300001XTest; https://doaj.org/toc/2666-4593Test

الوصول الحر: https://doaj.org/article/76527cdea2c443e38b7f702521a1c32dTest

المؤلفون: Elferich, Johannes, Clark, Sarah, Ge, Jingpeng, Goehring, April, Matsui, Aya, Gouaux, Eric

المساهمون: RNA Therapeutics Institute

المصدر: eLife ; 10 ; United States ; England

مصطلحات موضوعية: CDH23, PCDH15, cryo-electron tomography, hair cells, hearing, mechanosensory transduction, molecular biophysics, mouse, neuroscience, structural biology

العلاقة: This article is based on a previously available preprint in bioRxiv, https://doi.org/10.1101/2021.10.01.462800Test.; eLife; https://doi.org/10.7554/elife.74512Test; Elferich J, Clark S, Ge J, Goehring A, Matsui A, Gouaux E. Molecular structures and conformations of protocadherin-15 and its complexes on stereocilia elucidated by cryo-electron tomography. Elife. 2021 Dec 29;10:e74512. doi:10.7554/eLife.74512. PMID: 34964715; PMCID: PMC8776254.; http://hdl.handle.net/20.500.14038/51938Test

الإتاحة: https://doi.org/10.7554/eLife.74512Test
https://doi.org/20.500.14038/51938Test
https://doi.org/10.1101/2021.10.01.462800Test
https://doi.org/10.7554/elife.74512Test
https://hdl.handle.net/20.500.14038/51938Test

المؤلفون: Leonor M. Gaspar, Catarina I. Gonçalves, Fernando Fonseca, Davide Carvalho, Luísa Cortez, Ana Palha, Inês F. Barros, Ema Nobre, João S. Duarte, Cláudia Amaral, Maria J. Bugalho, Olinda Marques, Bernardo D. Pereira, Manuel C. Lemos

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 11749

مصطلحات موضوعية: pituitary adenoma, NEBL, nebulette, PCDH15, protocadherin-related 15, CDK8, cyclin dependent kinase 8, SNP, single nucleotide polymorphism, genetic susceptibility

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Biology; https://dx.doi.org/10.3390/ijms231911749Test

الإتاحة: https://doi.org/10.3390/ijms231911749Test

المؤلفون: Johannes Elferich, Sarah Clark, Jingpeng Ge, April Goehring, Aya Matsui, Eric Gouaux

المصدر: eLife, Vol 10 (2021)

مصطلحات موضوعية: hearing, hair cells, mechanosensory transduction, PCDH15, CDH23, cryo-electron tomography, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/74512Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/10c42af590ba43cb8bfaac704286f5f9Test

المؤلفون: Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed

المصدر: eLife, Vol 10 (2021)

مصطلحات موضوعية: usher syndrome, exogenous retinoids, retinal degeneration, natural history, PCDH15, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/67361Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/b6069badb6b14498bff5ec71588e5683Test

المؤلفون: Sethna, Saumil, Zein, Wadih M, Riaz, Sehar, Giese, Arnaud Pj, Schultz, Julie M, Duncan, Todd, Hufnagel, Robert B, Brewer, Carmen C, Griffith, Andrew J, Redmond, T Michael, Riazuddin, Saima, Friedman, Thomas B, Ahmed, Zubair M

المصدر: 10 ; United States ; England

مصطلحات موضوعية: PCDH15, cell biology, exogenous retinoids, human, medicine, mouse, natural history, retinal degeneration, usher syndrome

العلاقة: eLife; http://hdl.handle.net/10713/17126Test

الإتاحة: https://doi.org/10.7554/eLife.67361Test
http://hdl.handle.net/10713/17126Test

المؤلفون: Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: Usher syndrome, PCDH15, paracentric inversion, fusion transcripts, long-read sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.00623/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/7b788bb3d7c2403c815d579012188e3eTest