Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Nicolas F Berbari"'
Autor:
Wesley R Lewis, Erik B Malarkey, Douglas Tritschler, Raqual Bower, Raymond C Pasek, Jonathan D Porath, Susan E Birket, Sophie Saunier, Corinne Antignac, Michael R Knowles, Margaret W Leigh, Maimoona A Zariwala, Anil K Challa, Robert A Kesterson, Steven M Rowe, Iain A Drummond, John M Parant, Friedhelm Hildebrandt, Mary E Porter, Bradley K Yoder, Nicolas F Berbari
Publikováno v:
PLoS Genetics, Vol 12, Iss 7, p e1006220 (2016)
Ciliopathies are genetic disorders arising from dysfunction of microtubule-based cellular appendages called cilia. Different cilia types possess distinct stereotypic microtubule doublet arrangements with non-motile or 'primary' cilia having a 9+0 and
Externí odkaz:
https://doaj.org/article/7c98f36db5424abc93f80eefd82caaec
Autor:
Nicolas F Berbari, Erik B Malarkey, S M Zaki R Yazdi, Andrew D McNair, Jordyn M Kippe, Mandy J Croyle, Timothy W Kraft, Bradley K Yoder
Publikováno v:
PLoS ONE, Vol 9, Iss 9, p e106576 (2014)
It has been known for decades that neurons throughout the brain possess solitary, immotile, microtubule based appendages called primary cilia. Only recently have studies tried to address the functions of these cilia and our current understanding rema
Externí odkaz:
https://doaj.org/article/2e71e71e05b6427483f04e4886628a6e
Autor:
Iryna Berezniuk, Juan J Sironi, Jonathan Wardman, Raymond C Pasek, Nicolas F Berbari, Bradley K Yoder, Lloyd D Fricker
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e60981 (2013)
Cytosolic carboxypeptidase 1 (CCP1) is a metallopeptidase that removes C-terminal and side-chain glutamates from tubulin. The Purkinje cell degeneration (pcd) mouse lacks CCP1 due to a mutation. Previously, elevated levels of peptides derived from cy
Externí odkaz:
https://doaj.org/article/c4248ff8dab04f3297ae00a74b8414f5
Autor:
Ke Ning, Mohajeet B. Bhuckory, Chien-Hui Lo, Brent E. Sendayen, Tia J. Kowal, Ming Chen, Ruchi Bansal, Kun-Che Chang, Douglas Vollrath, Nicolas F. Berbari, Vinit B. Mahajan, Yang Hu, Yang Sun
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Primary cilia are conserved organelles that integrate extracellular cues into intracellular signals and are critical for diverse processes, including cellular development and repair responses. Deficits in ciliary function cause multisystemic
Externí odkaz:
https://doaj.org/article/e3cde6ac1f29410caad2250851acad47
Autor:
Katlyn K. Brewer, Kathryn M. Brewer, Tiffany T. Terry, Tamara Caspary, Christian Vaisse, Nicolas F. Berbari
Publikováno v:
Cells, Vol 13, Iss 3, p 259 (2024)
Primary cilia are hair-like structures found on nearly all mammalian cell types, including cells in the developing and adult brain. A diverse set of receptors and signaling proteins localize within cilia to regulate many physiological and development
Externí odkaz:
https://doaj.org/article/aa82dc4dc3b945f19ac91a531d8b52fc
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
A subset of genetic disorders termed ciliopathies are associated with obesity. The mechanisms behind cilia dysfunction and altered energy homeostasis in these syndromes are complex and likely involve deficits in both development and adult homeostasis
Externí odkaz:
https://doaj.org/article/3b4f42aa4d27488ba4e6c0c8fd43f750
Autor:
Ke Ning, Emilie Song, Brent E. Sendayen, Philipp P. Prosseda, Kun‐Che Chang, Alireza Ghaffarieh, Jorge A. Alvarado, Biao Wang, Kathryn M. Haider, Nicolas F. Berbari, Yang Hu, Yang Sun
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background Senior–Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end‐stage renal disease and progressive blindness. The most frequent cause of juvenile nephronophthisis
Externí odkaz:
https://doaj.org/article/1c54e82430da430c97c885e52ff91512
Publikováno v:
Journal of Microbiology & Biology Education, Vol 21, Iss 3 (2020)
This study explores whether integrating multicultural content within a genetics laboratory course affected students’ awareness of diversity and their perceptions of scientists’ identities. Genetics laboratory curricula typically focus on content
Externí odkaz:
https://doaj.org/article/07b5d81850b2402680aa4c18c09be404
Autor:
Tia J. Kowal, Onkar S. Dhande, Biao Wang, Qing Wang, Ke Ning, Wendy Liu, Nicolas F. Berbari, Yang Hu, Yang Sun
Publikováno v:
Journal of Comparative Neurology. 530:2176-2187
Loss of retinal ganglion cells (RGCs) underlies several forms of retinal disease including glaucomatous optic neuropathy, a leading cause of irreversible blindness. Several rare genetic disorders associated with cilia dysfunction have retinal degener
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e91f9011de7982c19e05c31490e6bd2
https://doi.org/10.1002/cne.25326
https://doi.org/10.1002/cne.25326
Publikováno v:
Synapse. 77
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9eb809878cfbd1df3b26a32a51d19de2
https://doi.org/10.1002/syn.22264
https://doi.org/10.1002/syn.22264