A novel mouse model of rhabdomyosarcoma underscores the dichotomy of MDM2-ALT1 function in vivo.

Autor: Comiskey DF Jr; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA.; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Jacob AG; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA.; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Sanford BL; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Montes M; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA.; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Goodwin AK; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Steiner H; Department of Veterinary Biosciences, The Ohio State University, Columbus, OH, USA., Matsa E; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Tapia-Santos AS; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA.; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Bebee TW; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA.; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Grieves J; Department of Veterinary Biosciences, The Ohio State University, Columbus, OH, USA.; Takeda California, Inc., Drug Safety Research & Evaluation 10410 Science Center Drive, San Diego, CA 92121, USA., La Perle K; Department of Veterinary Biosciences, The Ohio State University, Columbus, OH, USA., Boyaka P; Department of Veterinary Biosciences, The Ohio State University, Columbus, OH, USA., Chandler DS; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA.; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.

Publikováno v: Oncogene [Oncogene] 2018 Jan 04; Vol. 37 (1), pp. 95-106. Date of Electronic Publication: 2017 Sep 11.

Dysregulation of innate immune signaling in animal models of spinal muscular atrophy.

Autor: Garcia, Eric L.^1,2 (AUTHOR), Steiner, Rebecca E.^1,3,4 (AUTHOR), Raimer, Amanda C.^1,5,6 (AUTHOR), Herring, Laura E.⁷ (AUTHOR), Matera, A. Gregory^1,3,6,8,9 (AUTHOR) matera@unc.edu, Spring, Ashlyn M.^1,10 (AUTHOR) amspring2@uncg.edu

Publikováno v: BMC Biology. 4/25/2024, Vol. 22 Issue 1, p1-18. 18p.

ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.

Autor: Rohacek AM; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Clinical Research Building, Room 463, 415 Curie Boulevard, Philadelphia, PA 19104, USA., Bebee TW; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Tilton RK; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Radens CM; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Clinical Research Building, Room 463, 415 Curie Boulevard, Philadelphia, PA 19104, USA., McDermott-Roe C; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Peart N; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kaur M; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zaykaner M; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cieply B; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Musunuru K; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Barash Y; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Clinical Research Building, Room 463, 415 Curie Boulevard, Philadelphia, PA 19104, USA., Germiller JA; Division of Pediatric Otolaryngology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krantz ID; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Clinical Research Building, Room 463, 415 Curie Boulevard, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: KRANTZ@email.chop.edu., Carstens RP; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: russcars@upenn.edu., Epstein DJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Clinical Research Building, Room 463, 415 Curie Boulevard, Philadelphia, PA 19104, USA. Electronic address: epsteind@pennmedicine.upenn.edu.

Publikováno v: Developmental cell [Dev Cell] 2017 Nov 06; Vol. 43 (3), pp. 318-331.e5. Date of Electronic Publication: 2017 Oct 26.

Ablation of the epithelial-specific splicing factor Esrp1 results in ureteric branching defects and reduced nephron number.

Autor: Bebee TW; Department of Medicine (Renal Division), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Sims-Lucas S; Division of Nephrology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Park JW; Department of Computer Engineering and Computer Science, KBRIN Bioinformatics Core, University of Louisville, Louisville, Kentucky., Bushnell D; Division of Nephrology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Cieply B; Department of Medicine (Renal Division), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Xing Y; Department of Microbiology, Immunology and Molecular Genetics, University of California Los Angeles, Los Angeles, California., Bates CM; Division of Nephrology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania. russcars@upenn.edu.; Rangos Research Center, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania. russcars@upenn.edu., Carstens RP; Department of Medicine (Renal Division), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. batescm@upmc.edu.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. batescm@upmc.edu.

Publikováno v: Developmental dynamics : an official publication of the American Association of Anatomists [Dev Dyn] 2016 Oct; Vol. 245 (10), pp. 991-1000. Date of Electronic Publication: 2016 Jul 28.

Multiphasic and Dynamic Changes in Alternative Splicing during Induction of Pluripotency Are Coordinated by Numerous RNA-Binding Proteins.

Autor: Cieply B; Department of Medicine and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Park JW; Department of Microbiology, Immunology, and Molecular Genetics, University of California Los Angeles, Los Angeles, CA 90095, USA; Department of Computer Engineering and Computer Science, University of Louisville, Louisville, KY 40292, USA; KBRIN Bioinformatics Core, University of Louisville, Louisville, KY 40292, USA., Nakauka-Ddamba A; Department of Biomedical Sciences and Institute for Regenerative Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Bebee TW; Department of Medicine and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Guo Y; Department of Microbiology, Immunology, and Molecular Genetics, University of California Los Angeles, Los Angeles, CA 90095, USA; School of Computer Science, Northwestern Polytechnical University, Xian 710072, China., Shang X; School of Computer Science, Northwestern Polytechnical University, Xian 710072, China., Lengner CJ; Department of Biomedical Sciences and Institute for Regenerative Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Xing Y; Department of Microbiology, Immunology, and Molecular Genetics, University of California Los Angeles, Los Angeles, CA 90095, USA. Electronic address: yxing@ucla.edu., Carstens RP; Department of Medicine and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: russcars@upenn.edu.

Publikováno v: Cell reports [Cell Rep] 2016 Apr 12; Vol. 15 (2), pp. 247-55. Date of Electronic Publication: 2016 Mar 31.