Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Andrew J Sachs"'
Autor:
Nissa J Mollema, Yang Yuan, Austin S Jelcick, Andrew J Sachs, Désirée von Alpen, Daniel Schorderet, Pascal Escher, Neena B Haider
Publikováno v:
PLoS ONE, Vol 6, Iss 3, p e17494 (2011)
The majority of diseases in the retina are caused by genetic mutations affecting the development and function of photoreceptor cells. The transcriptional networks directing these processes are regulated by genes such as nuclear hormone receptors. The
Externí odkaz:
https://doaj.org/article/5fb636f655d74fb7bcd1e49ca9f0258e
Autor:
Austin S Jelcick, Yang Yuan, Barrett D Leehy, Lakeisha C Cox, Alexandra C Silveira, Fang Qiu, Sarah Schenk, Andrew J Sachs, Margaux A Morrison, Arne M Nystuen, Margaret M DeAngelis, Neena B Haider
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e21858 (2011)
Variation in genetic background can significantly influence the phenotypic outcome of both disease and non-disease associated traits. Additionally, differences in temporal and strain specific gene expression can also contribute to phenotypes in the m
Externí odkaz:
https://doaj.org/article/a51890272136448b9d891641a2cf58b3
Publikováno v:
PLoS ONE, Vol 4, Iss 12, p e8270 (2009)
The weeble mutant mouse has a frame shift mutation in inositol polyphosphate 4-phosphatase type I (Inpp4a). The phenotype is characterized by an early onset cerebellar ataxia and neurodegeneration, especially apparent in the Purkinje cells. Purkinje
Externí odkaz:
https://doaj.org/article/781d809b4902471cbad99fe204433256
Autor:
Joyce R. Maddox, Janee Gelineau-van Waes, Andrew J. Sachs, Nicole M. Gardner, Kenneth A. Voss, Ronald T. Riley, Jency L. Showker
Publikováno v:
Toxicological Sciences. 150:161-168
FTY720 (fingolimod) is a U.S. Food and Drug Administration-approved drug to treat relapsing remitting multiple sclerosis. FTY720 treatment in pregnant inbred LM/Bc mice results in approximately 60% of embryos having a neural tube defect (NTD). Sphing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::932de61de14efc24d6509a063910d47d
https://doi.org/10.1093/toxsci/kfv321
https://doi.org/10.1093/toxsci/kfv321
Publikováno v:
neurogenetics. 16:277-285
The progressive and permanent loss of cerebellar Purkinje cells (PC) is a hallmark of many inherited ataxias. Mutations in several genes involved in the regulation of Ca(2+) release from intracellular stores by the second messenger IP3 have been asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81dd048486516249ec089c662de61a68
https://doi.org/10.1007/s10048-015-0450-4
https://doi.org/10.1007/s10048-015-0450-4
Autor:
Meghan Gaule, Yang Yuan, Jürgen K. Naggert, Patsy M. Nishina, Nissa Mollema, Neena B. Haider, Arne M. Nystuen, Andrew J. Sachs
Publikováno v:
Experimental Eye Research. 89:365-372
The retinal transcription factor Nr2e3 plays a key role in photoreceptor development and function. In this study we examine gene expression in the retina of Nr2e3(rd7/rd7) mutants with respect to wild-type control mice, to identify genes that are mis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf7668d7c7bed6db94837350514dda3
https://doi.org/10.1016/j.exer.2009.04.006
https://doi.org/10.1016/j.exer.2009.04.006
Publikováno v:
Mammalian Genome. 19:623-633
The nmf193 mutant was generated by a large-scale ENU mutagenesis screen and originally described as having a dominantly inherited phenotype characterized by fundus abnormalities. We determined that nmf193 mice exhibit outer-segment defects and progre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a45e55e74bfef70cab782ae9efec3f0
https://doi.org/10.1007/s00335-008-9138-5
https://doi.org/10.1007/s00335-008-9138-5
Autor:
Jency L. Showker, Janee Gelineau-van Waes, Andrew J. Sachs, Nicole M. Gardner, Joyce R. Maddox, Kenneth A. Voss, Ronald T. Riley
Publikováno v:
Toxicology and applied pharmacology. 298
Fumonisin B1 (FB1) is a mycotoxin produced by a common fungal contaminant of corn. Administration of FB1 to pregnant LM/Bc mice induces exencephaly in embryos, and ingestion of FB1-contaminated food during early pregnancy is associated with increased
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c3357c26f82914c5a0f57469ba507f3
https://pubmed.ncbi.nlm.nih.gov/26905748
https://pubmed.ncbi.nlm.nih.gov/26905748
Publikováno v:
Neurogenetics. 8:1-10
The soluble N-ethylmaleimide sensitive factor attachment receptors are a large family of membrane-associated proteins that are critical for Ca(2+)-mediated synaptic vesicle release. This family includes the VAMP, synaptosomal-associated protein, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a151d369d17e22eb9098d5665f08bd1b
https://doi.org/10.1007/s10048-006-0068-7
https://doi.org/10.1007/s10048-006-0068-7
Autor:
Kenneth A. Voss, Mark A. Rainey, Ronald T. Riley, Joyce R. Maddox, Nicole M. Gardner, Janee Gelineau-van Waes, Andrew J. Sachs, Justin Wilberding
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 94(10)
BACKGROUND: Fumonisin B1 (FB1) is a mycotoxin produced by a common fungal contaminant of corn. Ingestion of FB1-contaminated food is associated with increased risk for neural tube defects (NTDs). FB1 induces NTDs in inbred LM/Bc mice. FB1 inhibits ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76c624424b8d0f5e0b059e0d791d1a9c
https://pubmed.ncbi.nlm.nih.gov/22991331
https://pubmed.ncbi.nlm.nih.gov/22991331