Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Rachel A. Hart"'
1
Severe Vitamin B12 Deficiency Mimicking Microangiopathic Hemolytic Anemia
Autor: Ramzi Hassouneh, Olivia Lee, Steve Shen, Patrick Fadden, Rachel A. Hart, Logan P. Rhea
Publikováno v: Journal of Hematology
Most individuals with vitamin B12 deficiency present with anemia, fatigue, and neurologic disturbances such as paresthesia and loss of sensory function if chronic. However, in severe states, it may manifest as hemolytic anemia, thrombocytopenia, schi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a49bd3520d326a2f1775d96892fccabc
https://doi.org/10.14740/jh889
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2
Conformational flexibility of apolipoprotein A-I amino- and carboxy-termini is necessary for lipid binding but not cholesterol efflux
Autor: Shimpi Bedi, Jamie Morris, Amy Shah, Rachel C. Hart, W. Gray Jerome, Stephen G. Aller, Chongren Tang, Tomas Vaisar, Karin E. Bornfeldt, Jere P. Segrest, Jay W. Heinecke, W. Sean Davidson
Publikováno v: Journal of Lipid Research. 63:100168
Because of its critical role in HDL formation, significant efforts have been devoted to studying apolipoprotein A-I (APOA1) structural transitions in response to lipid binding. To assess the requirements for the conformational freedom of its termini
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b0b7c3c2c80e1520cdc8845b1b9d163
https://doi.org/10.1016/j.jlr.2022.100168
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3
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling
Autor: Paul Kruszka, Seth I. Berger, Yupeng Wang, Maximilian Muenke, James C. Mullikin, Ping Hu, Rachel A. Hart, Lucilene Arilho Ribeiro-Bicudo, Nisc Comparative Sequencing Program, Antonio Richieri-Costa, Benjamin D. Solomon, Wendy S. W. Wong, James W. Thomas, Erich Roessler, Juliana Marino, Sung-Kook Hong, John E Niederhuber, Ariel F. Martinez, Yu Abe
Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Here, we applied targeted capture to examine 153 genes representative of all the major vertebrate developmental pathways among 333 probands to rank their relative significance as causes for holoprosencephaly (HPE). We now show that comparisons of var
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f2f0187a2320961c042bfd96ccd532c
https://pubmed.ncbi.nlm.nih.gov/29992659
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4
Executive Function and Adaptive Behavior in Muenke Syndrome
Autor: Colin M. P. Yarnell, Donald W. Hadley, Maximilian Muenke, H. Collmann, Paul Kruszka, Edythe Wiggs, Tilmann Schweitzer, Yvonne Paelecke, Maria J. Guillen Sacoto, Rachel A. Hart, Petra Platte, Nneamaka B. Agochukwu, Yonit A. Addissie
Publikováno v: The Journal of Pediatrics. 167:428-434
To investigate executive function and adaptive behavior in individuals with Muenke syndrome using validated instruments with a normative population and unaffected siblings as controls.Participants in this cross-sectional study included individuals wi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bdac8fb77d611bb767ead9b3c5555fa
https://doi.org/10.1016/j.jpeds.2015.04.080
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6
On a happy journey?
Autor: Rachel Mertz Hart, Aaron Kerner
Publikováno v: Short Film Studies. 4:47-50
Matka beautifully re-envisions Albert Camus’ The Myth of Sisyphus (1955), raising questions of burdens and fulfilment. Matka is an existential exploration of the human spirit, that here is contextualized by potential limits.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::35a16e581aa6b3999c90c13ed39b1a9a
https://doi.org/10.1386/sfs.4.1.47_1
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8
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
Autor: Xinjing Wang, Joan Z. Balog, Dimitre R. Simeonov, Monika B. Dolinska, David R. Adams, Matthew Bower, Marjan Huizing, Yuri V. Sergeev, David Winer, Wadih M. Zein, Genia Dubrovsky, Brian P. Brooks, Chen Wang, Roxanne Fischer, William A. Gahl, Rachel A. Hart
Publikováno v: Human mutation. 34(6)
Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e73fa2201fb4705396babbe420864f76
https://pubmed.ncbi.nlm.nih.gov/23504663
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