Zobrazeno 1 - 10
of 14
pro vyhledávání: '"April M Stafford"'
Autor:
Ruchi Malik, Emily Ling-Lin Pai, Anna N Rubin, April M Stafford, Kartik Angara, Petros Minasi, John L. Rubenstein, Vikaas S Sohal, Daniel Vogt
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Although cortical GABAergic interneuron (CIN) dysfunction is implicated in several neuropsychiatric disorders, we still know very little about how they attain their unique properties or how their dysfunction impacts neuropsychiatric disorders. In thi
Externí odkaz:
https://doaj.org/article/80b4682b9d2d4e25bfb4a1bda0b1e7cc
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
The development and maturation of cortical GABAergic interneurons has been extensively studied, with much focus on nuclear regulation via transcription factors. While these seminal events are critical for the establishment of interneuron developmenta
Externí odkaz:
https://doaj.org/article/a95c4598e35f43c9b83f76758241259f
Autor:
Hannah C. Rudolph, April M. Stafford, Hye-Eun Hwang, Cheol-Hee Kim, Jeremy W. Prokop, Daniel Vogt
Publikováno v:
Biology, Vol 12, Iss 4, p 589 (2023)
Dysfunction of the WW domain-containing adaptor with coiled-coil, WAC, gene underlies a rare autosomal dominant disorder, DeSanto–Shinawi syndrome (DESSH). DESSH is associated with facial dysmorphia, hypotonia, and cognitive alterations, including
Externí odkaz:
https://doaj.org/article/e23290ef58b041a182ff5fd8d07ce059
Autor:
Dean Wundrach, Luis E. Martinetti, April M. Stafford, Stephanie M. Bilinovich, Kartik Angara, Jeremy W. Prokop, Shane R. Crandall, Daniel Vogt
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
The TSC1 and TSC2 genes are connected to multiple syndromes from Tuberous Sclerosis Complex (TSC) to autism spectrum disorder (ASD), with uncertainty if genetic variants cause all or subsets of phenotypes based on the location and type of change. For
Externí odkaz:
https://doaj.org/article/98673a78d6ed42aaaa17d5a35eca0782
Autor:
Sara J. Knowles, April M. Stafford, Tariq Zaman, Kartik Angara, Michael R. Williams, Jason M. Newbern, Daniel Vogt
RAS/MAPK gene dysfunction underlies various cancers and neurocognitive disorders. Although the roles of RAS/MAPK genes have been well studied in cancer, less is known about their function during neurodevelopment. There are many genes that work in con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e053de78a40cfff707941187ad171180
https://doi.org/10.1101/2022.08.04.502867
https://doi.org/10.1101/2022.08.04.502867
Autor:
Sara J. Knowles, Michael C. Holter, Guohui Li, George R. Bjorklund, Katherina P. Rees, Johan S. Martinez-Fuentes, Kenji J. Nishimura, Ariana E. Afshari, Noah Fry, April M Stafford, Daniel Vogt, Marco Mangone, Trent Anderson, Jason M. Newbern
The RAS/RAF/MEK/ERK1/2 intracellular signaling pathway is activated by numerous cues during brain development and dysregulated in neurodevelopmental syndromes, particularly the RASopathies and certain forms of autism. Cortical excitatory/inhibitory i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a1d3f63de4c5dd7660b62f02f9275e1
https://doi.org/10.1101/2022.08.02.502073
https://doi.org/10.1101/2022.08.02.502073
Autor:
April M Stafford, Maria Pacheco-Vergara, Katie L Uhl, Tara E Jager, Xiaopeng Li, Juhee Jeong, Daniel Vogt
Several monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments, including autism, attention deficit hyperactivity disorder (ADHD) and seizures. Limited studies and resources are available to make meani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11e0e9feb76a5a4e8874a188a1b2282b
https://doi.org/10.1101/2022.01.24.477600
https://doi.org/10.1101/2022.01.24.477600
Autor:
Dean Wundrach, Stephanie M. Bilinovich, Kartik Angara, Shane R. Crandall, Luis E Martinetti, April M Stafford, Daniel Vogt
Tuberous Sclerosis Complex is a complex syndrome that affects multiple organs and is caused by dysfunction of either the TSC1 or TSC2 genes. One of the least understood features of TSC is the impact of TSC1&2 variants on brain phenotypes, including e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1768c02a1ad51253f821d067278f9106
https://doi.org/10.1101/2020.06.01.128611
https://doi.org/10.1101/2020.06.01.128611
Autor:
Emily Ling-Lin Pai, Julie T. Nguyen, Anirban Paul, Katie X. Li, John L.R. Rubenstein, April M Stafford, Kartik Angara, Stephanie M. Bilinovich, Daniel Vogt
Publikováno v:
Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America, vol 117, iss 11
Proceedings of the National Academy of Sciences of the United States of America, vol 117, iss 11
Neurofibromatosis 1 (NF1) is caused by mutations in the NF1 gene, which encodes the protein, neurofibromin, an inhibitor of Ras activity. Cortical GABAergic interneurons (CINs) are implicated in NF1 pathology, but the cellular and molecular changes t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f0766dd29ed351faacc8441ec5d0d79
https://europepmc.org/articles/PMC7084085/
https://europepmc.org/articles/PMC7084085/
Autor:
Daniel Vogt, John L.R. Rubenstein, Emily Ling-Lin Pai, Anna N. Rubin, Petros Minasi, Kartik Angara, April M Stafford, Vikaas S. Sohal, Ruchi Malik
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature communications, vol 10, iss 1
Nature Communications
Nature communications, vol 10, iss 1
Nature Communications
Medial ganglionic eminence (MGE)-derived somatostatin (SST)+ and parvalbumin (PV)+ cortical interneurons (CINs), have characteristic molecular, anatomical and physiological properties. However, mechanisms regulating their diversity remain poorly unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aec1348c2dac2101beb4ef68b4228c3e
https://doi.org/10.1038/s41467-019-12962-4
https://doi.org/10.1038/s41467-019-12962-4