Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Anita M. Quintana"'
Publikováno v:
BMC Neuroscience, Vol 21, Iss 1, Pp 1-17 (2020)
Abstract Background Precise regulation of neural precursor cell (NPC) proliferation and differentiation is essential to ensure proper brain development and function. The HCFC1 gene encodes a transcriptional co-factor that regulates cell proliferation
Externí odkaz:
https://doaj.org/article/32aac295fa1f439ba4e57a45fe26d166
Publikováno v:
Biology Open, Vol 9, Iss 4 (2020)
We used whole-exome sequencing (WES) to determine the genetic etiology of a patient with a multi-system disorder characterized by a seizure phenotype. WES identified a heterozygous de novo missense mutation in the GABRA1 gene (c.875C>T). GABRA1 encod
Externí odkaz:
https://doaj.org/article/6aebd22da8b94ccb93499609f26bb651
Autor:
Anita M. Quintana, Fabrizio Picchione, Ramon I. Klein Geltink, Michael R. Taylor, Gerard C. Grosveld
Publikováno v:
Disease Models & Mechanisms, Vol 7, Iss 2, Pp 265-270 (2014)
ETV7 is a human oncoprotein that cooperates with Eμ-MYC to promote pre-B-cell leukemia in mice. It is normally expressed in the bone marrow and fetal liver and is upregulated in primary leukemia, suggesting that it is involved in proper hematopoiesi
Externí odkaz:
https://doaj.org/article/37d0b56b45ab44f1a3d009254deeb06b
Autor:
David Paz, Briana E. Pinales, Barbara S. Castellanos, Isaiah Perez, Claudia B. Gil, Lourdes Jimenez Madrigal, Nayeli G. Reyes-Nava, Victoria L. Castro, Jennifer L. Sloan, Anita M. Quintana
Publikováno v:
Differentiation. 131:74-81
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b823939ab3c1cc2d9d08089cedc1668f
https://doi.org/10.1016/j.diff.2023.04.003
https://doi.org/10.1016/j.diff.2023.04.003
Autor:
Nayeli G. Reyes-Nava, Isaiah Perez, Brian Grajeda, Igor L. Estevao, Cameron C. Ellis, Sourav Roy, Anita M. Quintana
Publikováno v:
bioRxiv
Mutation of theGABRA1gene is associated with neurodevelopmental defects and epilepsy phenotypes.GABRA1encodes for the α1 subunit of the gamma-aminobutyric acid type A receptor (GABAAR), which regulates the fast inhibitory impulses of the nervous sys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e41cc1d892fa65c1345eb68b3d9949b
https://doi.org/10.1101/2023.01.27.525860
https://doi.org/10.1101/2023.01.27.525860
Autor:
David Paz, Briana E. Pinales, Barbara S. Castellanos, Isaiah Perez, Claudia B. Gil, Lourdes Jimenez Madrigal, Nayeli G. Reyes-Nava, Victoria L. Castro, Jennifer L. Sloan, Anita M. Quintana
Variants in theMMACHCgene cause combined methylmalonic acidemia and homocystinuriacblCtype, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism.cblCis associated with neurodevelopmental, hematological, ocular, and biochem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1b9ce34e6f4714f8a782cff10e8ecb3
https://doi.org/10.1101/2023.01.20.524982
https://doi.org/10.1101/2023.01.20.524982
Autor:
Victoria L. Castro, David Paz, Valeria Virrueta, Igor L. Estevao, Brian I. Grajeda, Cameron C. Ellis, Anita M. Quintana
Mutations in the HCFC1 transcriptional co-factor protein are the cause ofcblXsyndrome and X-linked intellectual disability (XLID).cblXis the more severe disorder associated with intractable epilepsy, abnormal cobalamin metabolism, facial dysmorphia,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22de4b3fbbf726945abad74669f2f190
https://doi.org/10.1101/2022.10.21.513292
https://doi.org/10.1101/2022.10.21.513292
Publikováno v:
BMC Developmental Biology, Vol 21, Iss 1, Pp 1-14 (2021)
BMC Developmental Biology
BMC Developmental Biology
Background: Heparan sulfate proteoglycan 2 (HSPG2) encodes for perlecan, a large proteoglycan that plays an important role in cartilage formation, cell adhesion, and basement membrane stability. Mutations in HSPG2 have been associated with Schwartz-J
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b845faec4ab30d497d34a596b93f1d6
https://doaj.org/article/2d5420012ceb477885840aca021d5d3e
https://doaj.org/article/2d5420012ceb477885840aca021d5d3e
Autor:
Victoria L. Castro, David Paz, Valeria Virrueta, Igor L. Estevao, Brian I. Grajeda, Cameron C. Ellis, Anita M. Quintana
Publikováno v:
Gene. 864:147290
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e541db3d412dbf8d88e6e744d664a19c
https://doi.org/10.1016/j.gene.2023.147290
https://doi.org/10.1016/j.gene.2023.147290
Autor:
Zer Vue, Edgar Garza-Lopez, Kit Neikirk, Larry Vang, Heather Beasley, Jianqiang Shao, Andrea G. Marshall, Amber Crabtree, Chantell Evans, Brittany Taylor, Trace A. Christensen, Jacob Lam, Benjamin Rodriguez, Mark A. Phillips, Jamaine Davis, Anilkumar K. Reddy, Anita M. Quintana, Sandra A. Murray, Vernat Exil, Bret C. Mobley, Jose A. Gomez, Dao-Fu Dai, Antentor Hinton
Skeletal muscle gradually loses mass, strength, endurance, and oxidative capacity during aging. While mitochondrial aging is associated with endoplasmic reticulum stress, fragmented mitochondria, and decreased mitochondrial capacity, the genes associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ccae93fd1fd79088748e4a9cc6089594
https://doi.org/10.1101/2022.03.22.485341
https://doi.org/10.1101/2022.03.22.485341