Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Bethan A. Cole"'
Autor:
Bethan A. Cole, Esther B. E. Becker
Publikováno v:
Cells, Vol 12, Iss 18, p 2215 (2023)
Canonical transient receptor potential 3 (TRPC3) channel is a non-selective cation permeable channel that plays an essential role in calcium signalling. TRPC3 is highly expressed in the brain and also found in endocrine tissues and smooth muscle cell
Externí odkaz:
https://doaj.org/article/886b0c08b1934b4889cf1e99abe63f93
Autor:
Bethan A. Cole, Rachel M. Johnson, Hattapark Dejakaisaya, Nadia Pilati, Colin W.G. Fishwick, Stephen P. Muench, Jonathan D. Lippiat
Publikováno v:
iScience, Vol 23, Iss 5, Pp - (2020)
Summary: Drug-resistant epileptic encephalopathies of infancy have been associated with KCNT1 gain-of-function mutations, which increase the activity of KNa1.1 sodium-activated potassium channels. Pharmacological inhibition of hyperactive KNa1.1 chan
Externí odkaz:
https://doaj.org/article/f3264e823a434571aabe565029cbfe0e
Publikováno v:
Trends in Pharmacological Sciences. 42:700-713
Gain-of-function (GOF) pathogenic variants of KCNT1, the gene encoding the largest known potassium channel subunit, KNa1.1, are associated with developmental and epileptic encephalopathies accompanied by severe psychomotor and intellectual disabiliti
Gain-of-function pathogenic missense KCNT1 variants are associated with several developmental and epileptic encephalopathies (DEE). With few exceptions, patients are heterozygous and there is a paucity of mechanistic information about how pathogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94ed0c1bf47d19688b9bdd7244241354
https://doi.org/10.1101/2021.09.16.460601
https://doi.org/10.1101/2021.09.16.460601
Publikováno v:
Trends in pharmacological sciences. 42(8)
Gain-of-function (GOF) pathogenic variants of KCNT1, the gene encoding the largest known potassium channel subunit, K
Autor:
Rachel M. Johnson, Bethan A. Cole, Nadia Pilati, Stephen P. Muench, Jonathan D. Lippiat, Colin W. G. Fishwick, Hattapark Dejakaisaya
Publikováno v:
iScience, Vol 23, Iss 5, Pp-(2020)
iScience
iScience
Summary Drug-resistant epileptic encephalopathies of infancy have been associated with KCNT1 gain-of-function mutations, which increase the activity of KNa1.1 sodium-activated potassium channels. Pharmacological inhibition of hyperactive KNa1.1 chann
Autor:
Nadia Pilati, Stephen P. Muench, Colin W. G. Fishwick, Hattapark Dejakaisaya, Jonathan D. Lippiat, Rachel M. Johnson, Bethan A. Cole
Several types of drug-resistant epileptic encephalopathies of infancy have been associated with mutations in the KCNT1 gene, which encodes the sodium-activated potassium channel subunit KNa1.1. These mutations are commonly gain-of-function, increasin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8125b1d9fcbb423ccd5fb583881aba85
https://doi.org/10.1101/779975
https://doi.org/10.1101/779975
Autor:
Cole, Bethan A.1,2 (AUTHOR) bethan.cole@ndcn.ox.ac.uk, Becker, Esther B. E.1,2 (AUTHOR) bethan.cole@ndcn.ox.ac.uk
Publikováno v:
Cells (2073-4409). Sep2023, Vol. 12 Issue 18, p2215. 17p.
Autor:
Lucy Hume
Established in 1982, People of Today annually recognises over 20,000 individuals who are positively influencing Britain and inspiring others through their achievements and leadership. Entry is by invitation only. The objective criteria for inclusion
Autor:
Stella Bruzzi, Pamela Church Gibson
Following on from the ground-breaking collection Fashion Cultures, this second anthology, Fashion Cultures Revisited, contains 26 newly commissioned chapters exploring fashion culture from the start of the new millennium to the present day. The book