Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sarah V. Clowes Candadai"'
Autor:
Jane A. Dickerson, Claire L. Wittowski, Daniel F. Gallego, Jessie H. Conta, Marie E Perrone, Sarah V. Clowes Candadai
Publikováno v:
Archives of pathologylaboratory medicine. 146(1)
Context.— Genomic molecular testing practices in a pediatric tertiary care institution can vary in utility by patient indication. Objective.— To evaluate exome sequencing (ES) ordering practices and the effects of applying criteria to support ES
Autor:
Shilpi Chabra, Amanda S. Freed, Sarah V. Clowes Candadai, Jenny Thies, Anisha Chandra Schwarz, Leo H. Wang, Brianna K Brei, A. Micheil Innes, James T. Bennett, Jean K. Mah
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(3)
CHRNB1 encodes the β subunit of the acetylcholine receptor (AChR) at the neuromuscular junction. Inherited defects in the neuromuscular junction can lead to congenital myasthenia syndrome (CMS), a clinically and genetically heterogeneous group of di
Exome sequencing (ES) has revolutionized molecular diagnosis in children with genetic disease over the past decade. However, exome sequencing in the inpatient setting has traditionally been discouraged, in part due to an increased risk of providers f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f66b59ed1511d2c10fa79cd15eaccb53
https://europepmc.org/articles/PMC6481675/
https://europepmc.org/articles/PMC6481675/
Autor:
Margaret P. Adam, Mallory B Smith, Heather M. Byers, Jennifer N. Dines, Mesaki Kenneth Ndugga-Kabuye, Amanda S. Freed, Katrina M. Dipple, Robert DiGeronimo, Heather C Mefford, James T. Bennett, Gail H. Deutsch, Katie Fogus, Jenny Thies, Zeenia Billimoria, Sarah V. Clowes Candadai, John K. McGuire, Angela Sun, Christina Lam, Megan C. Sikes
Publikováno v:
The Journal of Pediatrics. 226:202-212.e1
Objectives To evaluate the clinical usefulness of rapid exome sequencing (rES) in critically ill children with likely genetic disease using a standardized process at a single institution. To provide evidence that rES with should become standard of ca
Autor:
Sarah V. Clowes Candadai, Shannon Stasi, Darci L. Sternen, Jessie H. Conta, Monica Wellner, Jane A. Dickerson
Publikováno v:
American Journal of Clinical Pathology. 152:S148-S148
Introduction The complexity and relative high cost of genetic tests combined with stringent administrative and medical coverage policies can negatively impact test accessibility and, ultimately, patient care. The burden of test preauthorization typic
Publikováno v:
Molecular Biology of the Cell
Ubiquitin-protein ligases (E3s) are often in the precarious position of ubiquitinating themselves, mediating their own destruction. The intrinsically disordered E3 San1 prevents its own autoubiquitination and degradation by minimizing Lys residues an
Publikováno v:
Journal of Cell Science.
Cdc48/p97, also known as valosin-containing protein or VCP, is an abundant AAA-ATPase that is essential for many ubiquitin-dependent processes. One well-documented role for Cdc48 is facilitating the delivery of ubiquitinated, misfolded endoplasmic-re
Publikováno v:
The Journal of biological chemistry. 288(9)
Misfolded proteins present an escalating deleterious challenge to cells over the course of their lifetime. One mechanism the cell possesses to prevent misfolded protein accumulation is their destruction by protein quality control (PQC) degradation sy