Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Russell J. Ferland"'
Autor:
Russell J. Ferland, Jason Smith, Dominick Papandrea, Jessica Gracias, Leah Hains, Sridhar B. Kadiyala, Brittany O’Brien, Eun Yong Kang, Barbara S. Beyer, Bruce J. Herron
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 7, Iss 8, Pp 2545-2558 (2017)
Epilepsy has many causes and comorbidities affecting as many as 4% of people in their lifetime. Both idiopathic and symptomatic epilepsies are highly heritable, but genetic factors are difficult to characterize among humans due to complex disease eti
Externí odkaz:
https://doaj.org/article/a85a4023da234e46a944f86c73039b25
Autor:
Kiet Hua, Russell J. Ferland
Publikováno v:
Methods in Cell Biology ISBN: 9780443185885
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4355234b018f93619d65dee326f981c7
https://doi.org/10.1016/bs.mcb.2023.01.002
https://doi.org/10.1016/bs.mcb.2023.01.002
Publikováno v:
J Neurosci
The Abelson-helper integration site 1 (AHI1) gene encodes for a ciliary transition zone localizing protein that when mutated causes the human ciliopathy, Joubert syndrome. We prepared and examined neuronal cultures derived from male and female embryo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7578d9431fcb57ef82a2dc33ba1e208c
https://doi.org/10.1523/jneurosci.2993-20.2021
https://doi.org/10.1523/jneurosci.2993-20.2021
Autor:
Yunfei Huang, Corinne S. Wilson, Julia W. Nalwalk, Alexander A. Mongin, Rajan Sah, Preeti Dohare, Russell J. Ferland, Shaina Orbeta, Annalisa Scimemi
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 35(10)
The leucine-rich repeat-containing family 8 member A (LRRC8A) is an essential subunit of the volume-regulated anion channel (VRAC). VRAC is critical for cell volume control, but its broader physiological functions remain under investigation. Recent s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd70ecfa10c5d6432b57048dfb3ca493
https://pubmed.ncbi.nlm.nih.gov/34469026
https://pubmed.ncbi.nlm.nih.gov/34469026
Publikováno v:
Developmental Biology. 448:36-47
Joubert syndrome (JBTS) is a predominantly autosomal recessive neurodevelopmental disorder that presents with characteristic malformations of the cerebellar vermis, superior cerebellar peduncles and midbrain in humans. Accompanying these malformation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a9374d8f1c17f2ea24bf23182422093
https://doi.org/10.1016/j.ydbio.2019.01.014
https://doi.org/10.1016/j.ydbio.2019.01.014
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e90506 (2014)
Identifying the genetic basis of epilepsy in humans is difficult due to its complexity, thereby underlying the need for preclinical models with specific aspects of seizure susceptibility that are tractable to genetic analyses. In the repeated-fluroth
Externí odkaz:
https://doaj.org/article/b2d0a3fc99e04e28b46a7e922227c994
Autor:
Sridhar B. Kadiyala, Russell J. Ferland, Leah Hains, Brittany O'Brien, Bruce J. Herron, Jessica Gracias, Barbara S. Beyer, Eun Yong Kang, Dominick Papandrea, Jason Smith
Publikováno v:
G3: Genes|Genomes|Genetics
G3: Genes, Genomes, Genetics, Vol 7, Iss 8, Pp 2545-2558 (2017)
G3: Genes, Genomes, Genetics, Vol 7, Iss 8, Pp 2545-2558 (2017)
Epilepsy has many causes and comorbidities affecting as many as 4% of people in their lifetime. Both idiopathic and symptomatic epilepsies are highly heritable, but genetic factors are difficult to characterize among humans due to complex disease eti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc7e915a16db2f4e1efffa7ac13f431b
https://doi.org/10.1534/g3.117.042234
https://doi.org/10.1534/g3.117.042234
Publikováno v:
Epilepsia Open
SummaryObjective C57BL/6J mice exposed to eight flurothyl-induced generalized clonic seizures exhibit a change in seizure phenotype following a 28-day incubation period and subsequent flurothyl rechallenge. Mice now develop a complex seizure semiolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f30d7999c481b89de6585eba178312f
https://doi.org/10.1002/epi4.12031
https://doi.org/10.1002/epi4.12031
Publikováno v:
J Cell Sci
Mutations in the Abelson-helper integration site 1 (AHI1) gene are associated with neurological/neuropsychiatric disorders, and cause the neurodevelopmental ciliopathy Joubert syndrome (JBTS). Here, we show that deletion of the transition zone (TZ) p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::765cd2b45736b829a156c9a401a51f3f
https://europepmc.org/articles/PMC6771145/
https://europepmc.org/articles/PMC6771145/
Publikováno v:
J Neurosci Methods
Background Sholl analysis has been used to analyze neuronal morphometry and dendritic branching and complexity for many years. While the process has become semi-automated in recent years, existing software packages are still dependent on user tracing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0c511bfa07bf797f60f8d4d24e8dea5
https://pubmed.ncbi.nlm.nih.gov/31760060
https://pubmed.ncbi.nlm.nih.gov/31760060