Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Brian J. Shay"'
Publikováno v:
Case Reports in Genetics, Vol 2024 (2024)
Heterozygous microdeletions at 13q12.3 are associated with a rare genetic disorder, 13q12.3 microdeletion syndrome, characterized by intellectual disability, microcephaly, development delay, facial dysmorphisms, atopy, and obesity. Reported 13q12.3 m
Externí odkaz:
https://doaj.org/article/c77ec1641b494fe096eb14db9927f42b
Autor:
Manashi Panda, Derek J. Averill, Jia Li, Brian J. Shay, Borislava Nikolovski, Piotr L. Pawlak, Ferman A. Chavez, Atanu Banerjee, William W. Brennessel
Publikováno v:
European Journal of Inorganic Chemistry. 2015:646-655
The synthesis and structure of [MnLCl]0.5H2O (1·0.5H2O, HL = 1-benzyl-4-acetato-1,4,7-triazacyclononane) is reported. Complex 1 exists as a coordination polymer in the solid state, and the MnII center is bonded to three amine nitrogen atoms, one car
Autor:
Jia Li, Michael D. Sevilla, Amitiva Adhikary, Brian J. Shay, Ferman A. Chavez, Atanu Banerjee, Debra R. Preston, Reza Loloee, Richard J. Staples
We previously reported the spin-crossover (SC) properties of [FeII(tacn)2](OTf)2 (1) (tacn = 1,4,7-triazacyclononane) [Eur. J. Inorg. Chem. 2013, 2115]. Upon heating under dynamic vacuum, 1 undergoes oxidation to generate a low spin iron(III) complex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79942bd9c61a63c119680e832cb642dc
https://europepmc.org/articles/PMC6221196/
https://europepmc.org/articles/PMC6221196/
Publikováno v:
The Journal of nutritional biochemistry. 27
Histiotrophic nutrition pathways (HNPs) are processes by which the organogenesis-stage conceptus obtains nutrients, amino acids, vitamins, and cofactors required for protein biosynthesis and metabolic activities. Nutrients are captured from the mater
Publikováno v:
Journal of the Chemical Society, Perkin Transactions 2. :2009-2018
Spin trapping with nitrones coupled with the use of electron paramagnetic resonance (EPR) is one of the most effective techniques to observe reactive radical oxygen species (RROS), even though the distinction between, for example, alkoxyl and alkylpe
Publikováno v:
EMBC
Biochemical samples are complex mixtures containing 1000's of components which often must be fractionated prior to analysis. Conventional fraction collectors, which can only accommodate 10's of fractions, are not well suited for high throughput analy
Publikováno v:
Journal of the American Chemical Society. 115:1004-1014
Chlorine cation addition to benzene, aniline, anisole, styrene, chlorobenzene, and nitrobenzene was studied using NH 3 Cl + , ClC≡O + , protonated CH 3 Cl, and Cl + as reagent ions. The reactions of protonated monochloramine were followed using a d
Autor:
Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) of
Externí odkaz:
https://doaj.org/article/1827760dc59544598719c7df6f5aa0f2
Autor:
Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)
Summary: Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia
Externí odkaz:
https://doaj.org/article/111938d44884445f92d7831c96a453cf
Publikováno v:
Rocky Mountain J. Math. 31, no. 2 (2001), 437-482
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b390f466867deb13be181063ed6cfc6
http://projecteuclid.org/euclid.rmjm/1181070207
http://projecteuclid.org/euclid.rmjm/1181070207