Výsledky vyhledávání - "Steven F Dobrowolski"

Akademický článek

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

Autor: Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, Morten Lapin, Karen Kristjansdottir, Ulrika S S Petersen, Jeanne Mari V Bang, Barbara Guerra, Henriette Skovgaard Andersen, Steven F Dobrowolski, John C Carey, Ping Yu, Cecily Vaughn, Amy Calhoun, Martin R Larsen, Lars Dyrskjøt, David A Stevenson, Brage S Andresen

Publikováno v: PLoS Genetics, Vol 12, Iss 5, p e1006039 (2016)

Costello syndrome (CS) may be caused by activating mutations in codon 12/13 of the HRAS proto-oncogene. HRAS p.Gly12Val mutations have the highest transforming activity, are very frequent in cancers, but very rare in CS, where they are reported to ca

Externí odkaz: https://doaj.org/article/1e346ab8d30947b8a0549231e917af6c

Zobrazit plný text záznamu

Akademický článek

FilmArray, an automated nested multiplex PCR system for multi-pathogen detection: development and application to respiratory tract infection.

Autor: Mark A Poritz, Anne J Blaschke, Carrie L Byington, Lindsay Meyers, Kody Nilsson, David E Jones, Stephanie A Thatcher, Thomas Robbins, Beth Lingenfelter, Elizabeth Amiott, Amy Herbener, Judy Daly, Steven F Dobrowolski, David H-F Teng, Kirk M Ririe

Publikováno v: PLoS ONE, Vol 6, Iss 10, p e26047 (2011)

The ideal clinical diagnostic system should deliver rapid, sensitive, specific and reproducible results while minimizing the requirements for specialized laboratory facilities and skilled technicians. We describe an integrated diagnostic platform, th

Externí odkaz: https://doaj.org/article/e7ad8b4b51a1448aad5d2451b0503fca

Zobrazit plný text záznamu

Akademický článek

Creatine energy substrate increases bone density in the Pahenu2 classical PKU mouse in the context of phenylalanine restriction

Autor: Steven F. Dobrowolski, Irina L. Tourkova, Quitterie C. Larrouture, Harry C. Blair

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100996- (2023)

Pathophysiology of osteopenia in phenylalanine hydroxylase (PAH) deficient phenylketonuria (PKU) is poorly characterized. The Pahenu2 mouse is universally osteopenic where dietary phenylalanine (Phe) management with amino acid defined chow does not i

Externí odkaz: https://doaj.org/article/ce9daa555fee4c36821f6e3a22ceb43d

Zobrazit plný text záznamu

Akademický článek

Glutamine energy substrate anaplerosis increases bone density in the Pahenu2 classical PKU mouse in the absence of phenylalanine restriction

Autor: Steven F. Dobrowolski, Yu Leng Phua, Irina L. Tourkova, Cayla Sudano, Jerry Vockley, Quitterie C. Larrouture, Harry C. Blair

Publikováno v: JIMD Reports, Vol 63, Iss 5, Pp 446-452 (2022)

Abstract Osteopenia is an under‐investigated clinical presentation of phenylalanine hydroxylase (PAH)‐deficient phenylketonuria (PKU). While osteopenia is not fully penetrant in human PKU, the Pahenu2 mouse is universally osteopenic and ideal to

Externí odkaz: https://doaj.org/article/07e8c6faa3d54d05b9e4db6c6780f1ec

Zobrazit plný text záznamu

Akademický článek

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

Autor: Rachel Wolfe, Paige Heiman, Olivia D'Annibale, Anuradha Karunanidhi, Alyssa Powers, Marianne Mcguire, Bianca Seminotti, Steven F. Dobrowolski, Miguel Reyes-Múgica, Kathryn S. Torok, Al-Walid Mohsen, Jerry Vockley, Lina Ghaloul-Gonzalez

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100932- (2022)

Autoimmune Disease, Multisystem, with Facial Dysmorphism (ADMFD) is an autosomal recessive disorder due to pathogenic variants in the ITCH gene. It is characterized by failure to thrive, dysmorphic facial features, developmental delay, and systemic a

Externí odkaz: https://doaj.org/article/9763ee3b6cd345f3adadf389b4604dbf

Zobrazit plný text záznamu

Akademický článek

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria

Autor: Vikram K. Raghu, Steven F. Dobrowolski, Rakesh Sindhi, Kevin A. Strauss, George V. Mazariegos, Jerry Vockley, Kyle Soltys

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100866- (2022)

Classical phenylketonuria (PKU) presents a unique challenge for women of child-bearing age. In the context of pregnancy, poorly controlled hyperphenylalaninemia can result in a devastating constellation of outcomes for the baby referred to as the mat

Externí odkaz: https://doaj.org/article/2bf363ef50404c388650e2ff2becc09c

Zobrazit plný text záznamu

Akademický článek

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders

Autor: Evgenia Sklirou, Ahmad N. Alodaib, Steven F. Dobrowolski, Al-Walid A. Mohsen, Jerry Vockley

Publikováno v: Frontiers in Genetics, Vol 11 (2021)

Inborn errors of mitochondrial fatty acid oxidation (FAO) comprise the most common group of disorders identified through expanded newborn screening mandated in all 50 states in the United States, affecting 1:10,000 newborns. While some of the morbidi

Externí odkaz: https://doaj.org/article/e51e6f38ab8c41af826b1ee3136063fe

Zobrazit plný text záznamu

Akademický článek

A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

Publikováno v: JCI Insight, Vol 5, Iss 20 (2020)

Phenylalanine hydroxylase–deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most deleteri

Externí odkaz: https://doaj.org/article/25a4c7bc5404441d96bc2b097f4c68db

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání