NF1 ^+/ex42del miniswine model the cellular disruptions and behavioral presentations of NF1-associated cognitive and motor impairment.

Autor: Swier VJ; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA., White KA; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA., Negrão de Assis PL; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA., Johnson TB; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA., Leppert HG; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA., Rechtzigel MJ; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA., Meyerholz DK; Department of Pathology, University of Iowa, Iowa City, Iowa, USA., Dodd RD; Department of Internal Medicine, University of Iowa, Iowa City, Iowa, USA.; Holden Comprehensive Cancer Center, University of Iowa, Iowa City, Iowa, USA., Quelle DE; Department of Neuroscience and Pharmacology, University of Iowa, Iowa City, Iowa, USA., Khanna R; Department of Pharmacology and Therapeutics, College of Medicine, University of Florida, Gainesville, Florida, USA., Rogers CS; Exemplar Genetics, Coralville, Iowa, USA., Weimer JM; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA.; Department of Pediatrics, University of South Dakota, Sioux Falls, South Dakota, USA.

Publikováno v: Clinical and translational science [Clin Transl Sci] 2024 Jun; Vol. 17 (6), pp. e13858.

Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model.

Autor: Knoernschild K; Department of Radiology, University of Iowa, 200 Hawkins Drive cc704 GH, Iowa City, IA, 52242, USA.; Department of Biomedical Engineering, University of Iowa, Iowa City, IA, USA., Johnson HJ; Department of Biomedical Engineering, University of Iowa, Iowa City, IA, USA.; Department of Electrical and Computer Engineering, University of Iowa, Iowa City, IA, USA.; Department of Psychiatry, University of Iowa, Iowa City, IA, USA., Schroeder KE; Department of Radiology, University of Iowa, 200 Hawkins Drive cc704 GH, Iowa City, IA, 52242, USA., Swier VJ; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA., White KA; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA., Sato TS; Department of Radiology, University of Iowa, 200 Hawkins Drive cc704 GH, Iowa City, IA, 52242, USA., Rogers CS; Precigen Exemplar, Coralville, IA, USA., Weimer JM; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA., Sieren JC; Department of Radiology, University of Iowa, 200 Hawkins Drive cc704 GH, Iowa City, IA, 52242, USA. jessica-sieren@uiowa.edu.; Department of Biomedical Engineering, University of Iowa, Iowa City, IA, USA. jessica-sieren@uiowa.edu.; Holden Comprehensive Cancer Center, University of Iowa, Iowa City, IA, USA. jessica-sieren@uiowa.edu.

Publikováno v: Scientific reports [Sci Rep] 2023 Mar 29; Vol. 13 (1), pp. 5146. Date of Electronic Publication: 2023 Mar 29.

Glycerophosphoinositol is Elevated in Blood Samples From CLN3 ^Δex7-8 pigs, Cln3 ^Δex7-8 Mice, and CLN3-Affected Individuals.

Autor: Brudvig JJ; Pediatrics & Rare Diseases, Sanford Research, Sioux Falls, SD, USA.; Pediatrics, University of South Dakota Sanford School of Medicine, Vermillion, SD, USA.; Discovery Science, Amicus Therapeutics, Philadelphia, PA, USA., Swier VJ; Pediatrics & Rare Diseases, Sanford Research, Sioux Falls, SD, USA., Johnson TB; Pediatrics & Rare Diseases, Sanford Research, Sioux Falls, SD, USA.; Discovery Science, Amicus Therapeutics, Philadelphia, PA, USA., Cain JC; Pediatrics & Rare Diseases, Sanford Research, Sioux Falls, SD, USA.; Discovery Science, Amicus Therapeutics, Philadelphia, PA, USA., Pratt M; Pediatrics & Rare Diseases, Sanford Research, Sioux Falls, SD, USA., Rechtzigel M; Pediatrics & Rare Diseases, Sanford Research, Sioux Falls, SD, USA., Leppert H; Pediatrics & Rare Diseases, Sanford Research, Sioux Falls, SD, USA., Dang Do AN; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Weimer JM; Pediatrics & Rare Diseases, Sanford Research, Sioux Falls, SD, USA.; Pediatrics, University of South Dakota Sanford School of Medicine, Vermillion, SD, USA.; Discovery Science, Amicus Therapeutics, Philadelphia, PA, USA.

Publikováno v: Biomarker insights [Biomark Insights] 2022 Jun 19; Vol. 17, pp. 11772719221107765. Date of Electronic Publication: 2022 Jun 19 (Print Publication: 2022).

Assessment of nociception and related quality-of-life measures in a porcine model of neurofibromatosis type 1.

Autor: Khanna R; Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ, United States., Moutal A; Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ, United States., White KA; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States., Chefdeville A; Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ, United States., Negrao de Assis P; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States., Cai S; Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ, United States., Swier VJ; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States., Bellampalli SS; Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ, United States., Giunta MD; Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ, United States., Darbro BW; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, United States.; Holden Comprehensive Cancer Center, University of Iowa, Iowa City, IA, United States., Quelle DE; Holden Comprehensive Cancer Center, University of Iowa, Iowa City, IA, United States.; Molecular Medicine Program, University of Iowa Carver College of Medicine, Iowa City, IA, United States.; Departments of Pathology.; Pharmacology, and., Sieren JC; Radiology, University of Iowa Carver College of Medicine, Iowa City, IA, United States.; Department of Biomedical Engineering, University of Iowa, Iowa City, IA, United States., Wallace MR; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, United States.; University of Florida Health Cancer Center, UF Center for Neurogenetics, University of Florida, Gainesville, FL, United States., Rogers CS; Exemplar Genetics, Coralville, IA, United States., Meyerholz DK; Departments of Pathology., Weimer JM; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, United States.

Publikováno v: Pain [Pain] 2019 Nov; Vol. 160 (11), pp. 2473-2486.

A porcine model of neurofibromatosis type 1 that mimics the human disease.

Autor: White KA; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA., Swier VJ; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA., Cain JT; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA., Kohlmeyer JL; Molecular Medicine Program., Meyerholz DK; Department of Pathology, and., Tanas MR; Department of Pathology, and., Uthoff J; Department of Radiology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Department of Biomedical Engineering at the University of Iowa, Iowa City, Iowa, USA., Hammond E; Department of Radiology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Department of Biomedical Engineering at the University of Iowa, Iowa City, Iowa, USA., Li H; Department of Molecular Genetics and Microbiology and.; University of Florida Health Cancer Center, University of Florida, Gainesville, Florida, USA., Rohret FA; Exemplar Genetics, Coralville, Iowa, USA., Goeken A; Department of Pathology, and., Chan CH; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA., Leidinger MR; Department of Pathology, and., Umesalma S; Department of Pharmacology and., Wallace MR; Department of Molecular Genetics and Microbiology and.; University of Florida Health Cancer Center, University of Florida, Gainesville, Florida, USA., Dodd RD; Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Holden Comprehensive Cancer Center, University of Iowa, Iowa City, Iowa, USA., Panzer K; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Tang AH; Department of Microbiology and Molecular Cell Biology, Leroy T. Canoles Jr. Cancer Research Center, Eastern Virginia Medical School, Norfolk, Virginia., Darbro BW; Holden Comprehensive Cancer Center, University of Iowa, Iowa City, Iowa, USA.; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Moutal A; Department of Pharmacology, University of Arizona, Tucson, Arizona, USA., Cai S; Department of Pharmacology, University of Arizona, Tucson, Arizona, USA., Li W; Department of Pharmacology, University of Arizona, Tucson, Arizona, USA., Bellampalli SS; Department of Pharmacology, University of Arizona, Tucson, Arizona, USA., Khanna R; Department of Pharmacology, University of Arizona, Tucson, Arizona, USA., Rogers CS; Exemplar Genetics, Coralville, Iowa, USA., Sieren JC; Department of Radiology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Department of Biomedical Engineering at the University of Iowa, Iowa City, Iowa, USA.; Holden Comprehensive Cancer Center, University of Iowa, Iowa City, Iowa, USA., Quelle DE; Molecular Medicine Program.; Department of Pathology, and.; Department of Pharmacology and.; Holden Comprehensive Cancer Center, University of Iowa, Iowa City, Iowa, USA., Weimer JM; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA.; Department of Pediatrics, Sanford School of Medicine at the University of South Dakota, Sioux Falls, South Dakota, USA.

Publikováno v: JCI insight [JCI Insight] 2018 Jun 21; Vol. 3 (12). Date of Electronic Publication: 2018 Jun 21 (Print Publication: 2018).