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Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome.

Autor: Donovan MG; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Rachubinski AL; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; Department of Pediatrics, Section of Developmental Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Smith KP; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Araya P; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Waugh KA; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; Department of Cell Biology and Physiology, University of Kansas Medical Center, Kansas City, KS, USA., Enriquez-Estrada B; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Britton EC; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Lyford HR; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Granrath RE; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Schade KA; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Kinning KT; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Paul Eduthan N; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Sullivan KD; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; Department of Pediatrics, Section of Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Galbraith MD; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address: matthew.galbraith@cuanschutz.edu., Espinosa JM; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address: joaquin.espinosa@cuanschutz.edu.

Publikováno v: Cell reports [Cell Rep] 2024 Aug 27; Vol. 43 (8), pp. 114599. Date of Electronic Publication: 2024 Aug 08.

Inhibition of the proline metabolism rate-limiting enzyme P5CS allows proliferation of glutamine-restricted cancer cells.

Autor: Linder SJ; The Krantz Family Center for Cancer Research, The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA., Bernasocchi T; The Krantz Family Center for Cancer Research, The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA. tbernasocchi@mgh.harvard.edu.; Department of Pharmacology, University of Colorado School of Medicine, Anschutz Medical Campus, Denver, CO, USA. tbernasocchi@mgh.harvard.edu., Martínez-Pastor B; The Krantz Family Center for Cancer Research, The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA.; Spanish National Cancer Research Center (CNIO), Madrid, Spain., Sullivan KD; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Section of Developmental Biology, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Galbraith MD; Department of Pharmacology, University of Colorado School of Medicine, Anschutz Medical Campus, Denver, CO, USA.; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Lewis CA; The Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge, MA, USA., Ferrer CM; The Krantz Family Center for Cancer Research, The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA.; The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Boon R; The Krantz Family Center for Cancer Research, The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA.; The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Galapagos de Wittelaan, Mechelen, Belgium., Silveira GG; The Krantz Family Center for Cancer Research, The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA.; The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Cho HM; The Krantz Family Center for Cancer Research, The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA.; The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Vidoudez C; Harvard Center for Mass Spectrometry, Cambridge, MA, USA., Shroff S; Department of Pathology, The Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Oliveira-Costa JP; The Krantz Family Center for Cancer Research, The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA.; The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Takeda Pharmaceuticals, Cambridge, MA, USA., Ross KN; Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA., Massri R; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Matoba Y; Vincent Center for Reproductive Biology, Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA, USA.; Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, MA, USA., Kim E; Vincent Center for Reproductive Biology, Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA, USA.; Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, MA, USA., Rueda BR; Vincent Center for Reproductive Biology, Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA, USA.; Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, MA, USA., Stott SL; The Krantz Family Center for Cancer Research, The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA.; The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Center for Engineering in Medicine and Surgery, The Massachusetts General Hospital, Department of Medicine, Harvard Medical School, Boston, MA, USA., Gottlieb E; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; MD Anderson Cancer Center, Houston, TX, USA., Espinosa JM; Department of Pharmacology, University of Colorado School of Medicine, Anschutz Medical Campus, Denver, CO, USA.; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Mostoslavsky R; The Krantz Family Center for Cancer Research, The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA. rmostoslavsky@mgh.harvard.edu.; Department of Pharmacology, University of Colorado School of Medicine, Anschutz Medical Campus, Denver, CO, USA. rmostoslavsky@mgh.harvard.edu.

Publikováno v: Nature metabolism [Nat Metab] 2023 Dec; Vol. 5 (12), pp. 2131-2147. Date of Electronic Publication: 2023 Nov 13.

Down syndrome is associated with altered frequency and functioning of tracheal multiciliated cells, and response to influenza virus infection.

Autor: Thomas SN; Department of Bioengineering, University of Colorado Denver, Aurora, CO 80045, USA., Niemeyer BF; Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA., Jimenez-Valdes RJ; Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA., Kaiser AJ; Department of Bioengineering, University of Colorado Denver, Aurora, CO 80045, USA., Espinosa JM; Linda Crnic Institute for Down Syndrome, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Sullivan KD; Linda Crnic Institute for Down Syndrome, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Goodspeed A; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; University of Colorado Comprehensive Cancer Center, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Costello JC; Linda Crnic Institute for Down Syndrome, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; University of Colorado Comprehensive Cancer Center, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Alder JK; Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA., Cañas-Arranz R; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., García-Sastre A; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Medicine, Division of Infectious Diseases, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Global Health and Emerging Pathogens Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Benam KH; Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.; Linda Crnic Institute for Down Syndrome, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.; Department of Bioengineering, University of Pittsburgh, Pittsburgh, PA 15219, USA.; Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.

Publikováno v: IScience [iScience] 2023 Jul 14; Vol. 26 (8), pp. 107361. Date of Electronic Publication: 2023 Jul 14 (Print Publication: 2023).

Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model.

Autor: Waugh KA; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Minter R; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Baxter J; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Chi C; Division of Cardiology, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Gates Center for Regenerative Medicine and Stem Cell Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; The Consortium for Fibrosis Research & Translation, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Galbraith MD; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Tuttle KD; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Eduthan NP; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Kinning KT; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Andrysik Z; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Araya P; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Dougherty H; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Dunn LN; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Department of Pediatrics, Section of Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Ludwig M; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Schade KA; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Tracy D; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Smith KP; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Granrath RE; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Busquet N; Animal Behavior Core, NeuroTechnology Center, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Department of Neurology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Khanal S; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Anderson RD; Department of Oral and Craniofacial Sciences, University of Missouri-Kansas City, Kansas City, MO, USA., Cox LL; Department of Oral and Craniofacial Sciences, University of Missouri-Kansas City, Kansas City, MO, USA., Estrada BE; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Rachubinski AL; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Department of Pediatrics, Section of Developmental Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Lyford HR; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Britton EC; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Fantauzzo KA; Department of Craniofacial Biology, School of Dental Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Orlicky DJ; Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Matsuda JL; Department of Immunology and Genomic Medicine, National Jewish Health, Denver, CO, USA., Song K; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Division of Cardiology, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Gates Center for Regenerative Medicine and Stem Cell Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; The Consortium for Fibrosis Research & Translation, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Cox TC; Department of Oral and Craniofacial Sciences, University of Missouri-Kansas City, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri-Kansas City, Kansas City, MO, USA., Sullivan KD; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. kelly.d.sullivan@cuanschutz.edu.; Department of Pediatrics, Section of Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. kelly.d.sullivan@cuanschutz.edu., Espinosa JM; Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. joaquin.espinosa@cuanschutz.edu.; Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. joaquin.espinosa@cuanschutz.edu.

Publikováno v: Nature genetics [Nat Genet] 2023 Jun; Vol. 55 (6), pp. 1034-1047. Date of Electronic Publication: 2023 Jun 05.