Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jineet, Patel"'
Autor:
Melanie Wallace, Gregory R. Fedorchak, Richa Agrawal, Rachel M. Gilbert, Jineet Patel, Sangwoo Park, Matthew Paszek, Jan Lammerding
Publikováno v:
Nucleus, Vol 14, Iss 1 (2023)
ABSTRACTLamins A/C are nuclear intermediate filament proteins that are involved in diverse cellular mechanical and biochemical functions. Here, we report that recognition of Lamins A/C by a commonly used antibody (JOL-2) that binds the Lamin A/C Ig-f
Externí odkaz:
https://doaj.org/article/99170af4647640ac9e025b763602cb8f
Autor:
Natario L. Couser, Jineet Patel, Kayla King, Christopher A. Loschiavo, Shravan Kumar Renapurkar, Shripadh Chitta, Kimberly Salkey, Jennifer Rhodes
Publikováno v:
Ophthalmic genetics. 43(1)
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder associated with basal cell carcinomas (BCC), skeletal anomalies, and jaw cysts, and a number of ocular abnormalities. We describe a case of a 12-year-old boy diagnosed with NBCCS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05ea32fa8020a9c2ba7d59004fada9fe
https://pubmed.ncbi.nlm.nih.gov/34608840
https://pubmed.ncbi.nlm.nih.gov/34608840
Autor:
Jineet Patel, Lori L. Wallrath, Ashley J. Earle, Sushruta Iruvanti, Gisèle Bonne, Philipp Isermann, Steven A. Moore, Jan Lammerding, Tyler J. Kirby, Gregory R. Fedorchak
Publikováno v:
Earle*, A J, Kirby*, T J, Fedorchak*, G R, Isermann, P, Patel, J, Iruvanti, S, Moore, S A, Bonne, G, Wallrath, L L & Lammerding, J 2020, ' Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells ', Nat. Mater., vol. 19, no. 4, pp. 464-473 . https://doi.org/10.1038/s41563-019-0563-5
Nat. Mater., 19(4), 464-473. Nature Publishing Group
Nat. Mater., 19(4), 464-473. Nature Publishing Group
Mutations in the humanLMNAgene, which encodes the nuclear envelope (NE) proteins lamins A and C, cause autosomal dominant Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy, limb-girdle muscular dystrophy, and other diseases collectivel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faf77a48c7ed2a7d77b10340b26d83c6
https://research.vumc.nl/en/publications/cbecc6fd-0a34-4eb7-a64e-dc16d005b5e5
https://research.vumc.nl/en/publications/cbecc6fd-0a34-4eb7-a64e-dc16d005b5e5
Autor:
Ashley J, Earle, Tyler J, Kirby, Gregory R, Fedorchak, Philipp, Isermann, Jineet, Patel, Sushruta, Iruvanti, Steven A, Moore, Gisèle, Bonne, Lori L, Wallrath, Jan, Lammerding
Publikováno v:
Nat Mater
Mutations in the LMNA gene, which encodes the nuclear envelope (NE) proteins lamins A/C, cause Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy and other diseases collectively known as laminopathies. The mechanisms responsible for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::965fecb4b516246c0094328bd4e54912
https://pubmed.ncbi.nlm.nih.gov/32210401
https://pubmed.ncbi.nlm.nih.gov/32210401