Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Anastasia M. Bobilev"'
Publikováno v:
F1000Research, Vol 6 (2017)
Background: Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the PAX6 gene, which is a transcriptional regulator necessary for normal eye and brain development. The ocular abnormalities of aniridia have been w
Externí odkaz:
https://doaj.org/article/9c3e5357a6c1448b8dda58ceb7399b15
Publikováno v:
Schizophrenia Research. 217:71-85
The medial temporal lobe (MTL) and its individual structures have been extensively implicated in schizophrenia pathophysiology, with considerable efforts aimed at identifying structural and functional differences in this brain region. The major struc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2264fa9151239c9c4370fa59a3c23508
https://doi.org/10.1016/j.schres.2019.06.001
https://doi.org/10.1016/j.schres.2019.06.001
Publikováno v:
Brain research. 1756
The paired-box 6 (PAX6) gene encodes a highly conserved transcription factor essential for the proper development of the eye and brain. Heterozygous loss-of-function mutations in PAX6 are causal for a condition known as aniridia in humans and the Sma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0723b861a350feb2ca2127ac58736c72
https://pubmed.ncbi.nlm.nih.gov/33515537
https://pubmed.ncbi.nlm.nih.gov/33515537
Autor:
Madison K. Grant, Hannah C. Schriever, Khan Hekmatyar, James D. Lauderdale, Ashley M. Rasys, J. Branson Byers, Anastasia M. Bobilev
Publikováno v:
Brain research. 1732
PAX6 encodes a highly conserved transcription factor necessary for normal development of the eyes and central nervous system. Heterozygous loss-of-function mutations in PAX6 cause the disorder aniridia in humans and the Small eye trait in mice. Aniri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40bf4fb687641a43c3cac96c089ea784
https://pubmed.ncbi.nlm.nih.gov/32014531
https://pubmed.ncbi.nlm.nih.gov/32014531
Autor:
Anastasia M. Bobilev, James D. Lauderdale, E.E. Geisert, M.E. McDougal, Peter A. Netland, W.L. Taylor
Publikováno v:
Clinical Genetics. 89:669-677
We report on PAX6 alleles associated with a clinical diagnosis of classical aniridia in 81 affected individuals representing 66 families. Allelic variants expected to affect PAX6 function were identified in 61 families (76 individuals). Ten cases of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8aeac0763b497dd9a9e1a56d6f628818
https://doi.org/10.1111/cge.12708
https://doi.org/10.1111/cge.12708
Autor:
Cynthia E. Krafft, Jordan E. Pierce, David J. Schaeffer, Jennifer E. McDowell, Amanda L. Rodrigue, Anastasia M. Bobilev, James D. Lauderdale, Brett A. Clementz, Courtney R. Burton
Publikováno v:
Neuroreport. 29(17)
Aniridia is a panocular disorder characterized chiefly by iris hypoplasia. Most cases result from mutations of the PAX6 gene, which is important in both eye and brain development. In addition to ocular alterations, differences in global brain volume
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0afc75c6b06529ccca32bc3b9f40333c
https://pubmed.ncbi.nlm.nih.gov/30252749
https://pubmed.ncbi.nlm.nih.gov/30252749
Publikováno v:
Behavioural Brain Research. 278:506-513
Our previous studies have demonstrated a critical role of a VEGFR-like signaling pathway in hunger-driven overeating of sugar-rich food in Drosophila larvae. In the current study, we investigate whether the VEGFR signaling mechanism plays a similar r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c466f7c0443a7332dafde04e856ddcde
https://doi.org/10.1016/j.bbr.2014.10.004
https://doi.org/10.1016/j.bbr.2014.10.004
Autor:
James D. Lauderdale, Anastasia M. Bobilev, Brett A. Clementz, Matthew E. Hudgens-Haney, William T. Oliver, Jennifer E. McDowell, Jordan P. Hamm
Publikováno v:
Brain Research. 1720:146307
Aniridia is a congenital disorder, predominantly caused by heterozygous mutations of the PAX6 gene. While ocular defects have been extensively characterized in this population, brain-related anatomical and functional abnormalities are emerging as a p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::198618ef55ab331865cf6accea37d6ba
https://doi.org/10.1016/j.brainres.2019.146307
https://doi.org/10.1016/j.brainres.2019.146307
Autor:
Carol A. Tamminga, John A. Sweeney, Brett A. Clementz, Wei Li, Godfrey D. Pearlson, Matcheri S. Keshavan, Anastasia M. Bobilev
Publikováno v:
Biological Psychiatry. 81:S344
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::477534e5f8ec8c1e42b0bd35c191491a
https://doi.org/10.1016/j.biopsych.2017.02.575
https://doi.org/10.1016/j.biopsych.2017.02.575
Publikováno v:
F1000Research
Background:Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of thePAX6gene, which is a transcriptional regulator necessary for normal eye and brain development. The ocular abnormalities of aniridia have been well
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a78a22c1cd7fb5985cefae5a85792e
https://doi.org/10.12688/f1000research.11063.1
https://doi.org/10.12688/f1000research.11063.1