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Translational Medical Research Commons™
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Articles 1 - 20 of 20
Full-Text Articles in Translational Medical Research
Functional Evaluation Of A Novel Rpl30 Mutation And Its Role In Diamond Blackfan Anemia (Dba), Alexandra Prosser, Alexandria Cockrell, Danny Miller, Chris Seidel, Tamara Potapova, John M. Perry, Midhat Farooqi, Erin M. Guest, Jennifer Gerton
Functional Evaluation Of A Novel Rpl30 Mutation And Its Role In Diamond Blackfan Anemia (Dba), Alexandra Prosser, Alexandria Cockrell, Danny Miller, Chris Seidel, Tamara Potapova, John M. Perry, Midhat Farooqi, Erin M. Guest, Jennifer Gerton
Research Days
Background: Bone marrow failure is life-threatening and requires prompt, intensive treatment, which is dependent upon identification of genetic drivers. Although there has been investigation into associated genetic mutations, especially in Diamond Blackfan anemia (DBA), the relationship between genotype and phenotype remains unclear.DBA has been identified as a ribosomopathy, also known as a disease associated with defects in ribosome biogenesis. We identified a novel heterozygous variant (c.167+769C >T) in the noncoding region of RPL30 in a patient with clinical diagnosis of DBA. Clinical RNA sequencing (RNA-seq) suggests the variant generates a novel splice acceptor site resulting in truncated RPL30 transcripts. Elucidation …
Research Annual Report Fy2023, Children's Mercy Kansas City
Research Annual Report Fy2023, Children's Mercy Kansas City
Research Annual Reports
Annual report of the research at Children's Mercy Kansas City in Kansas City MO, a pediatric medical center.
Research Annual Report Fy2022, Children's Mercy Kansas City
Research Annual Report Fy2022, Children's Mercy Kansas City
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Variability In Naltrexone Biotransformation, Stephani L. Stancil
Variability In Naltrexone Biotransformation, Stephani L. Stancil
Research Days
No abstract provided.
Preventing Osteosarcoma Progression With Small Molecular Inhibitors Targeting Macrophage Migration Inhibitory Factor : Cd74 Interaction, Sana Farooki
Research Days
No abstract provided.
21st Century Clinical Trials: Rethinking Best Practices Challenges And Opportunities, William E Truog
21st Century Clinical Trials: Rethinking Best Practices Challenges And Opportunities, William E Truog
Presentations
Panel discussion at the Pediatric Academic Societies 2019 annual meeting.
The Pharmacogene Variation (Pharmvar) Consortium: Incorporation Of The Human Cytochrome P450 (Cyp) Allele Nomenclature Database, Andrea Gaedigk, Magnus Ingelman-Sundberg, Neil A. Miller, J Steven Leeder, Michelle Whirl-Carrillo, Teri E. Klein
The Pharmacogene Variation (Pharmvar) Consortium: Incorporation Of The Human Cytochrome P450 (Cyp) Allele Nomenclature Database, Andrea Gaedigk, Magnus Ingelman-Sundberg, Neil A. Miller, J Steven Leeder, Michelle Whirl-Carrillo, Teri E. Klein
Manuscripts, Articles, Book Chapters and Other Papers
The Human Cytochrome P450 (CYP) Allele Nomenclature Database, a critical resource to the pharmacogenetics and genomics communities, will be transitioning to the Pharmacogene Variation (PharmVar) Consortium. In this report we provide a summary of the current database, provide an overview of the PharmVar consortium and highlight the PharmVar database which will serve as the new home for pharmacogene nomenclature.
Decellularized Wharton's Jelly From Human Umbilical Cord As A Novel 3d Scaffolding Material For Tissue Engineering Applications., Sushma Jadalannagari, Gabriel Converse, Eric Buse, Michael Filla, Maria T. Villar, Antonio Artigues, Adam J. Mellot, Jinxi Wang, Michael S. Detamore, Richard A. Hopkins, Omar S. Aljitawi, C Mcfall
Decellularized Wharton's Jelly From Human Umbilical Cord As A Novel 3d Scaffolding Material For Tissue Engineering Applications., Sushma Jadalannagari, Gabriel Converse, Eric Buse, Michael Filla, Maria T. Villar, Antonio Artigues, Adam J. Mellot, Jinxi Wang, Michael S. Detamore, Richard A. Hopkins, Omar S. Aljitawi, C Mcfall
Manuscripts, Articles, Book Chapters and Other Papers
In tissue engineering, an ideal scaffold attracts and supports cells thus providing them with the necessary mechanical support and architecture as they reconstruct new tissue in vitro and in vivo. This manuscript details a novel matrix derived from decellularized Wharton's jelly (WJ) obtained from human umbilical cord for use as a scaffold for tissue engineering application. This decellularized Wharton's jelly matrix (DWJM) contained 0.66 ± 0.12 μg/mg sulfated glycosaminoglycans (GAGs), and was abundant in hyaluronic acid, and completely devoid of cells. Mass spectroscopy revealed the presence of collagen types II, VI and XII, fibronectin-I, and lumican I. When seeded onto …
Research Annual Report Fy2014, Children's Mercy Hospital
Research Annual Report Fy2014, Children's Mercy Hospital
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Research Annual Report 2012, Children's Mercy Hospital
Research Annual Report 2012, Children's Mercy Hospital
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Research Annual Report 2010, Children's Mercy Hospital
Research Annual Report 2010, Children's Mercy Hospital
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Research Annual Report 2008, Children's Mercy Hospital
Research Annual Report 2008, Children's Mercy Hospital
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Research Annual Report 2007, Children's Mercy Hospital
Research Annual Report 2007, Children's Mercy Hospital
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Research Annual Report 2006, Children's Mercy Hospital
Research Annual Report 2006, Children's Mercy Hospital
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Research Annual Report 2005, Children's Mercy Hospital
Research Annual Report 2005, Children's Mercy Hospital
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Research Annual Report 2004, Children's Mercy Hospital
Research Annual Report 2004, Children's Mercy Hospital
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Research Annual Report 2003, Children's Mercy Hospital
Research Annual Report 2003, Children's Mercy Hospital
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Research Annual Report 2002, Children's Mercy Hospital
Research Annual Report 2002, Children's Mercy Hospital
Research Annual Reports
Annual report of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center.
Optimisation Of Bile Production During Normothermic Preservation Of Porcine Livers., Charles J. Imber, Shawn D. St Peter, Inigo Lopez De Cenarruzabeitia, Hugh Lemonde, Mike Rees, Andrew Butler, Peter T. Clayton, Peter J. Friend
Optimisation Of Bile Production During Normothermic Preservation Of Porcine Livers., Charles J. Imber, Shawn D. St Peter, Inigo Lopez De Cenarruzabeitia, Hugh Lemonde, Mike Rees, Andrew Butler, Peter T. Clayton, Peter J. Friend
Manuscripts, Articles, Book Chapters and Other Papers
Machine perfusion of livers may provide a mechanism for extended preservation of marginal donor organs before transplantation, as well as a method for viability assessment. It has proved possible in a series of experimental porcine liver perfusions to maintain liver viability for up to 72 h. However, a reduction in bile production with associated histological evidence of cholestasis was seen after 10 h of perfusion, damaging the biliary canaliculi during the preservation period and leaving these organs in an unacceptable condition for transplantation. It was proposed that reduction in bile production was the result of a relentless depletion of available …
Research Vision 2000, Children's Mercy Hospital
Research Vision 2000, Children's Mercy Hospital
Research Annual Reports
Describes some of the research at Children's Mercy Hospital in Kansas City MO, a pediatric medical center, along with the vision for building its research efforts over the long term.