Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Summer R Fair"'
Autor:
Alecia Biel, Anthony S. Castanza, Ryan Rutherford, Summer R. Fair, Lincoln Chifamba, Jason C. Wester, Mark E. Hester, Robert F. Hevner
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
AUTS2 syndrome is a genetic disorder that causes intellectual disability, microcephaly, and other phenotypes. Syndrome severity is worse when mutations involve 3’ regions (exons 9-19) of the AUTS2 gene. Human AUTS2 protein has two major isoforms, f
Externí odkaz:
https://doaj.org/article/b055d3ed8723439eb7145c9b8f026b2c
Autor:
Spyros, Batzios, Galit, Tal, Andrew T, DiStasio, Yanyan, Peng, Christiana, Charalambous, Paola, Nicolaides, Erik-Jan, Kamsteeg, Stanley H, Korman, Hanna, Mandel, Peter J, Steinbach, Ling, Yi, Summer R, Fair, Mark E, Hester, Anthi, Drousiotou, Stephen G, Kaler
Publikováno v:
Human Molecular Genetics. 31:4121-4130
The high-affinity copper transporter CTR1 is encoded by CTR1 (SLC31A1), a gene locus for which no detailed genotype–phenotype correlations have previously been reported. We describe identical twin male infants homozygous for a novel missense varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b746f24ea60c92475c8e98970568515
https://doi.org/10.1093/hmg/ddac156
https://doi.org/10.1093/hmg/ddac156
Autor:
Summer R. Fair, Wesley Schwind, Dominic Julian, Alecia Biel, Swetha Ramadesikan, Jesse Westfall, Katherine E. Miller, Meisam Naeimi Kararoudi, Scott E. Hickey, Theresa Mihalic Mosher, Kim L. McBride, Reid Neinast, James Fitch, Dean Lee, Peter White, Richard K. Wilson, Tracy A. Bedrosian, Daniel C. Koboldt, Mark E. Hester
Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations. Here, we use a human cerebral organoid (CO) model to investigate th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0275a6d7c80b5dd9695c6a4201539129
https://doi.org/10.1101/2022.02.23.22271091
https://doi.org/10.1101/2022.02.23.22271091
Autor:
Dominic Julian, Craig A. McElroy, William E. Ackerman, Guomao Zhao, Arelis B. Hester, Annalisa M Hartlaub, Girik Malik, Mark E. Hester, Summer R. Fair, Sai Teja Pusuluri, Jaime Imitola, Irina A. Buhimschi, Nathalie L. Maitre, Taryn L. Summerfied, Mehboob Ali, Tracy A. Bedrosian, Ethan Hollingsworth
Publikováno v:
Stem Cell Reports
Summary Cerebral organoids (COs) are rapidly accelerating the rate of translational neuroscience based on their potential to model complex features of the developing human brain. Several studies have examined the electrophysiological and neural netwo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac89f89d660870e21c44ec7ae17a92ef
Autor:
Summer R Fair, Wesley Schwind, Dominic L Julian, Alecia Biel, Gongbo Guo, Ryan Rutherford, Swetha Ramadesikan, Jesse Westfall, Katherine E Miller, Meisam Naeimi Kararoudi, Scott E Hickey, Theresa Mihalic Mosher, Kim L McBride, Reid Neinast, James Fitch, Dean A Lee, Peter White, Richard K Wilson, Tracy A Bedrosian, Daniel C Koboldt, Mark E Hester
Publikováno v:
Brain : a journal of neurology. 146(1)
Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations. Here, we use a human cerebral organoid model to investigate the pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120caeea67440949a4e0d83af1184f4b
https://pubmed.ncbi.nlm.nih.gov/35802027
https://pubmed.ncbi.nlm.nih.gov/35802027
Autor:
Elaine R. Mardis, Daniel C. Koboldt, James Fitch, Katherine E. Miller, Christopher R. Pierson, Sean McGrath, Mai-Lan Ho, Tracy A. Bedrosian, Vincent Magrini, Summer R. Fair, Adam P. Ostendorf, Saranga Wijeratne, Jeffrey R. Leonard, Jocelyn M Bush, Kristen M. Leraas, Mark E. Hester, Wesley Schwind, Richard K. Wilson, Erin Crist, Ammar Shaikhouni, Anthony R. Miller
Publikováno v:
Brain
Phosphatase and tensin homologue (PTEN) regulates cell growth and survival through inhibition of the mammalian target of rapamycin (MTOR) signalling pathway. Germline genetic variation of PTEN is associated with autism, macrocephaly and PTEN hamartom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05d0aade759fdba741ebaa7b9e0b8965
https://europepmc.org/articles/PMC8634064/
https://europepmc.org/articles/PMC8634064/
Autor:
Summer R. Fair, Josh Fedorko, Austin Schoeffler, Fumihiro Watanabe, Mark E. Hester, Jaime Imitola
Publikováno v:
Current Protocols. 1
Neurosphere cultures have been used to propagate and study the intrinsic properties of neural stem cells (NSCs) for more than two decades but this method has many limitations. It is well known that neurospheres fuse in culture, but the long-term biol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a0e25c66526004ef7d2dae633697af0
https://doi.org/10.1002/cpz1.15
https://doi.org/10.1002/cpz1.15
Publikováno v:
Stem Cell Reviews and Reports
Many neurodegenerative diseases (NDs) such as Alzheimer's disease, Parkinson's disease, frontotemporal dementia, amyotrophic lateral sclerosis and Huntington's disease, are characterized by the progressive accumulation of abnormal proteinaceous assem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54ec0b891b03935d51e84a561901d54b
https://pubmed.ncbi.nlm.nih.gov/33180261
https://pubmed.ncbi.nlm.nih.gov/33180261