Search Results - "Clowes Candadai, Sarah V"

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children by Freed, Amanda S., Clowes Candadai, Sarah V., Sikes, Megan C., Thies, Jenny, Byers, Heather M., Dines, Jennifer N., Ndugga-Kabuye, Mesaki Kenneth, Smith, Mallory B., Fogus, Katie, Mefford, Heather C., Lam, Christina, Adam, Margaret P., Sun, Angela, McGuire, John K., DiGeronimo, Robert, Dipple, Katrina M., Deutsch, Gail H., Billimoria, Zeenia C., Bennett, James T.

“…To evaluate the clinical usefulness of rapid exome sequencing (rES) in critically ill children with likely genetic disease using a standardized process at a…”
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The requirement for Cdc48/p97 in nuclear protein quality control degradation depends on the substrate and correlates with substrate insolubility by Gallagher, Pamela S, Clowes Candadai, Sarah V, Gardner, Richard G

“…Cdc48, known as p97 or valosin-containing protein (VCP) in mammals, is an abundant AAA-ATPase that is essential for many ubiquitin-dependent processes. One…”
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Policy and laboratory practice: How quality control procedures for genetic testing perpetuate biological essentialism and discrimination against transgender, gender diverse, and intersex people by Dusic, Emerson J, Powers, Lex N, Clowes Candadai, Sarah V, Fullerton, Stephanie M

“…Transgender, gender diverse, and intersex (TGDI) individuals face significant health disparities due to individual and systemic experiences of discrimination,…”
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Substrate Recognition in Nuclear Protein Quality Control Degradation Is Governed by Exposed Hydrophobicity That Correlates with Aggregation and Insolubility by Fredrickson, Eric K., Gallagher, Pamela S., Clowes Candadai, Sarah V., Gardner, Richard G.

“…Misfolded proteins present an escalating deleterious challenge to cells over the course of their lifetime. One mechanism the cell possesses to prevent…”
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Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges by Clowes Candadai, Sarah V., Sikes, Megan C., Thies, Jenny M., Freed, Amanda S., Bennett, James T.

“…Exome sequencing (ES) has revolutionized molecular diagnosis in children with genetic disease over the past decade. However, exome sequencing in the inpatient…”
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CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum by Freed, Amanda S., Schwarz, Anisha C., Brei, Brianna K., Clowes Candadai, Sarah V., Thies, Jenny, Mah, Jean K., Chabra, Shilpi, Wang, Leo, Innes, A. Micheil, Bennett, James T.

“…CHRNB1 encodes the β subunit of the acetylcholine receptor (AChR) at the neuromuscular junction. Inherited defects in the neuromuscular junction can lead to…”
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Means of self-preservation: how an intrinsically disordered ubiquitin-protein ligase averts self-destruction by Fredrickson, Eric K, Clowes Candadai, Sarah V, Tam, Cheuk Ho, Gardner, Richard G

“…Ubiquitin-protein ligases (E3s) that ubiquitinate substrates for proteasomal degradation are often in the position of ubiquitinating themselves due to…”
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Requirement for Cdc48/p97 in nuclear protein quality control degradation varies with the substrate and correlates with substrate insolubility by Gallagher, Pamela S., Clowes Candadai, Sarah V., Gardner, Richard G.

“…Cdc48/p97, also known as valosin-containing protein or VCP, is an abundant AAA-ATPase that is essential for many ubiquitin-dependent processes. One…”
Get full text