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Wyszukujesz frazę ""Bassuk AG"" wg kryterium: Autor


Tytuł:
Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
Autorzy:
Rowell HA
Bassuk AG
Mahajan VB
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Temat:
Ophthalmology
RE1-994
Źródło:
Clinical Ophthalmology, Vol 2012, Iss default, Pp 2037-2044 (2012)
Opis pliku:
electronic resource
Relacje:
http://www.dovepress.com/monozygotic-twins-with-capn5-autosomal-dominant-neovascular-inflammato-a11696; https://doaj.org/toc/1177-5467; https://doaj.org/toc/1177-5483
Dostęp URL:
https://doaj.org/article/dd59f4c5893d448db3aed0856a808c94  Link otwiera się w nowym oknie
Czasopismo naukowe
Tytuł:
Selective neuroimmune modulation by type I interferon drives neuropathology and neurologic dysfunction following traumatic brain injury.
Autorzy:
Todd BP; Medical Scientist Training Program, University of Iowa, Iowa City, IA, USA.; Interdisciplinary Graduate Program in Neuroscience, University of Iowa, Iowa City, USA.
Luo Z; Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242, USA.
Gilkes N; Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242, USA.
Chimenti MS; Bioinformatics Division, Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA, USA.
Peterson Z; Department of Neuroscience and Pharmacology, University of Iowa, Iowa City, IA, USA.
Mix MR; Medical Scientist Training Program, University of Iowa, Iowa City, IA, USA.; Department of Pathology and Interdisciplinary Graduate Program in Immunology, University of Iowa, Iowa City, IA, USA.
Harty JT; Department of Pathology and Interdisciplinary Graduate Program in Immunology, University of Iowa, Iowa City, IA, USA.
Nickl-Jockschat T; Department of Neuroscience and Pharmacology, University of Iowa, Iowa City, IA, USA.; Department of Psychiatry, University of Iowa, Iowa City, IA, USA.
Ferguson PJ; Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242, USA.
Bassuk AG; Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242, USA.
Newell EA; Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242, USA. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2023 Aug 18; Vol. 11 (1), pp. 134. Date of Electronic Publication: 2023 Aug 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Interferon Type I*
Brain Injuries, Traumatic*/complications
Male ; Animals ; Mice ; Neuropathology ; Brain ; Antibodies
Czasopismo naukowe
Tytuł:
Gene therapy for Rett syndrome.
Autorzy:
Bassuk AG; Pediatrics Child Neurology, Neurology, Neurology, Genetics, Molecular and Cellular Biology, The Iowa Neuroscience Institute (INI), The Medical Scientist Training Program, The University of Iowa, Iowa City, Iowa, USA.
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Źródło:
Genes, brain, and behavior [Genes Brain Behav] 2022 Jan; Vol. 21 (1), pp. e12754. Date of Electronic Publication: 2021 Jun 04.
Typ publikacji:
Journal Article; Comment
MeSH Terms:
Rett Syndrome*/genetics
Rett Syndrome*/therapy
Genetic Therapy ; Humans ; Methyl-CpG-Binding Protein 2/genetics ; Phenotype
Czasopismo naukowe
Tytuł:
Traumatic brain injury results in unique microglial and astrocyte transcriptomes enriched for type I interferon response.
Autorzy:
Todd BP; Medical Scientist Training Program, University of Iowa, Iowa City, IA, USA.
Chimenti MS; Iowa Institute of Human Genetics, Bioinformatics Division, University of Iowa, Iowa City, IA, USA.
Luo Z; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Ferguson PJ; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA, USA. alexander-bassuk@uiowa.edu.
Newell EA; Department of Pediatrics, University of Iowa, Iowa City, IA, USA. .
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Źródło:
Journal of neuroinflammation [J Neuroinflammation] 2021 Jul 05; Vol. 18 (1), pp. 151. Date of Electronic Publication: 2021 Jul 05.
Typ publikacji:
Journal Article
MeSH Terms:
Astrocytes/*metabolism
Brain Injuries, Traumatic/*metabolism
Interferon Type I/*biosynthesis
Microglia/*metabolism
Transcriptome/*physiology
Animals ; Astrocytes/pathology ; Brain Injuries, Traumatic/genetics ; Brain Injuries, Traumatic/pathology ; Interferon Type I/genetics ; Male ; Mice ; Mice, Inbred C57BL ; Microglia/pathology
Czasopismo naukowe
Tytuł:
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Autorzy:
Burke EA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Sturgeon M; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Zastrow DB; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Fernandez L; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Prybol C; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Marwaha S; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Frothingham EP; Mid-Valley Children's Clinic, Albany, OR, USA.
Ward PA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Fresard L; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Montgomery SB; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Enns GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Fisher PG; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.
Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Harding B; Departments of Pathology and Lab Medicine (Neuropathology), Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Carrington B; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Bishop K; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Sood R; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Huang Y; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Elkahloun A; Microarray Core, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Wheeler MT; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.
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Źródło:
Journal of neurogenetics [J Neurogenet] 2021 Mar-Jun; Vol. 35 (2), pp. 74-83. Date of Electronic Publication: 2021 May 10.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Myoclonic Epilepsies, Progressive/*genetics
Potassium Channels/*genetics
Animals ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Mutation ; Myoclonic Epilepsies, Progressive/physiopathology ; Pedigree ; Phenotype ; Zebrafish
Czasopismo naukowe
Tytuł:
Peptidomimetics Therapeutics for Retinal Disease.
Autorzy:
Parsons DE; Molecular Surgery Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA 94304, USA.; Stanford ChEM-H Medicinal Chemistry Knowledge Center, Stanford University, Palo Alto, CA 94305, USA.
Lee SH; Molecular Surgery Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA 94304, USA.
Sun YJ; Molecular Surgery Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA 94304, USA.
Velez G; Molecular Surgery Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA 94304, USA.; Medical Scientist Training Program, University of Iowa, Iowa City, IA 52242, USA.
Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.
Smith M; Stanford ChEM-H Medicinal Chemistry Knowledge Center, Stanford University, Palo Alto, CA 94305, USA.
Mahajan VB; Molecular Surgery Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA 94304, USA.; Veterans Affairs Palo Alto Health Care System, Palo Alto, CA 94304, USA.
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Źródło:
Biomolecules [Biomolecules] 2021 Feb 24; Vol. 11 (3). Date of Electronic Publication: 2021 Feb 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Peptidomimetics*
Retinal Diseases/*metabolism
Animals ; Drug Compounding ; Drug Delivery Systems ; Humans ; Retina/metabolism
Czasopismo naukowe
Tytuł:
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
Autorzy:
Cho A; Department of Ophthalmology, Columbia University, New York, NY, USA.; Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, Edward S. Harkness Eye Institute, New York, NY, USA.
Lima de Carvalho JR Jr; Department of Ophthalmology, Columbia University, New York, NY, USA.; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, Edward S. Harkness Eye Institute, New York, NY, USA.; Department of Ophthalmology, Empresa Brasileira de Servicos Hospitalares (EBSERH) - Hospital das Clinicas de Pernambuco (HCPE), Federal University of Pernambuco (UFPE), Recife, Brazil.; Department of Ophthalmology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Tanaka AJ; Department of Pathology & Cell Biology, and Columbia Stem Cell Initiative, Columbia University Medical Center, New York, NY, USA.
Jauregui R; Department of Ophthalmology, Columbia University, New York, NY, USA.; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, Edward S. Harkness Eye Institute, New York, NY, USA.; Weill Cornell Medical College, New York, NY, USA.
Levi SR; Department of Ophthalmology, Columbia University, New York, NY, USA.; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, Edward S. Harkness Eye Institute, New York, NY, USA.
Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Mahajan VB; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.; Veterans Affairs Palo Alto Health Care Systems, Palo Alto, CA, USA.
Tsang SH; Department of Ophthalmology, Columbia University, New York, NY, USA. .; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York-Presbyterian Hospital, Edward S. Harkness Eye Institute, New York, NY, USA. .; Department of Pathology & Cell Biology, and Columbia Stem Cell Initiative, Columbia University Medical Center, New York, NY, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Jan 30; Vol. 15 (1), pp. 32. Date of Electronic Publication: 2020 Jan 30.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*/genetics
Retinitis Pigmentosa*/genetics
ATP-Binding Cassette Transporters ; Comparative Genomic Hybridization ; Eye Proteins ; Genetic Testing ; Humans ; Exome Sequencing
Czasopismo naukowe
Tytuł:
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
Autorzy:
Oh JK; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.; State University of New York at Downstate Medical Center, Brooklyn, NY, USA.
Lima de Carvalho JR Jr; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.; Department of Ophthalmology, Empresa Brasileira de Servicos Hospitalares (EBSERH) - Hospital das Clinicas de Pernambuco (HCPE), Federal University of Pernambuco (UFPE), Recife, Brazil.; Department of Ophthalmology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Sun YJ; Omics Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
Ragi S; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.
Yang J; Omics Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
Levi SR; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.
Ryu J; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.
Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, USA.; Department of Neurology, University of Iowa, Iowa City, USA.
Mahajan VB; Omics Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.; Veterans Affairs Palo Alto Health Care System, Palo Alto, CA, USA.
Tsang SH; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA. .; Department of Pathology & Cell Biology, and Columbia Stem Cell Initiative, Columbia University Medical Center, 635 West 165th Street, Box 212, New York, NY, 10032, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Dec 19; Vol. 14 (1), pp. 295. Date of Electronic Publication: 2019 Dec 19.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Autoantigens/*genetics
Mutation/*genetics
Retinal Dystrophies/*genetics
Retinitis Pigmentosa/*genetics
Adult ; Aged ; Autoantigens/chemistry ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Protein Structure, Secondary ; Retinal Dystrophies/pathology ; Retinitis Pigmentosa/pathology ; Tomography, Optical Coherence
Czasopismo naukowe
Tytuł:
Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.
Autorzy:
Velez G; Omics Laboratory, Stanford University, Palo Alto, CA, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.; Medical Scientist Training Program, University of Iowa, Iowa City, IA, USA.
Yang J; Omics Laboratory, Stanford University, Palo Alto, CA, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
Li AS; Omics Laboratory, Stanford University, Palo Alto, CA, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
Tsang SH; Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology & Cell Biology, Institute of Human Nutrition, Columbia University, New York, NY, USA.; Department of Pathology & Cell Biology, College of Physicians & Surgeons, Columbia University, New York, NY, USA.
Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Mahajan VB; Omics Laboratory, Stanford University, Palo Alto, CA, USA. .; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, USA. .; Palo Alto Veterans Administration, Palo Alto, CA, USA. .
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Źródło:
Scientific reports [Sci Rep] 2019 May 20; Vol. 9 (1), pp. 7608. Date of Electronic Publication: 2019 May 20.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Calpain/*metabolism
Diabetic Retinopathy/*metabolism
Proteome/*metabolism
Vitreoretinopathy, Proliferative/*metabolism
Adult ; Aged ; Chromatography, Liquid/methods ; Female ; Humans ; Male ; Middle Aged ; Proteomics/methods ; Retinal Degeneration/metabolism ; Retinal Detachment/metabolism ; Retinal Perforations/metabolism ; Tandem Mass Spectrometry/methods ; Vitreous Body/metabolism
Czasopismo naukowe
Tytuł:
Drug repositioning in epilepsy reveals novel antiseizure candidates.
Autorzy:
Brueggeman L; Department of Psychiatry Carver College of Medicine University of Iowa Iowa City Iowa.
Sturgeon ML; The Interdisciplinary Graduate Program in Molecular Medicine Carver College of Medicine University of Iowa Iowa City Iowa.
Martin RM; College of Engineering University of Iowa Iowa City Iowa.
Grossbach AJ; Department of Neurosurgery University of Iowa Iowa City Iowa.
Nagahama Y; Department of Neurosurgery University of Iowa Iowa City Iowa.
Zhang A; Department of Biostatistics University of Washington Seattle Washington.
Howard MA 3rd; Department of Neurosurgery University of Iowa Iowa City Iowa.
Kawasaki H; Department of Neurosurgery University of Iowa Iowa City Iowa.
Wu S; Department of Pediatrics University of Iowa Iowa City Iowa.
Cornell RA; Department of Anatomy and Cell Biology University of Iowa Iowa City Iowa.
Michaelson JJ; Department of Psychiatry Carver College of Medicine University of Iowa Iowa City Iowa.
Bassuk AG; Department of Pediatrics University of Iowa Iowa City Iowa.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2018 Dec 11; Vol. 6 (2), pp. 295-309. Date of Electronic Publication: 2018 Dec 11 (Print Publication: 2019).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Drug Repositioning*
Epilepsy/*pathology
Epilepsy, Temporal Lobe/*pathology
Seizures/*pathology
Adolescent ; Adult ; Electroencephalography/methods ; Female ; Hippocampus/pathology ; Humans ; Infant ; Male ; Middle Aged ; Temporal Lobe/pathology
Czasopismo naukowe
Tytuł:
A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.
Autorzy:
Todd BP; a Department of Pediatrics , The University of Iowa , Iowa City , United States.
Bassuk AG; a Department of Pediatrics , The University of Iowa , Iowa City , United States.
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Źródło:
Journal of neurogenetics [J Neurogenet] 2018 Dec; Vol. 32 (4), pp. 313-315. Date of Electronic Publication: 2018 May 23.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Autism Spectrum Disorder/*genetics
Epilepsies, Myoclonic/*genetics
LIM Domain Proteins/*genetics
Tumor Suppressor Proteins/*genetics
Child ; Developmental Disabilities/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Mutation, Missense
Czasopismo naukowe
Tytuł:
ProSave: an application for restoring quantitative data to manipulated subsets of protein lists.
Autorzy:
Machlab DA; 1Omics Laboratory, Stanford University, Palo Alto, CA USA.
Velez G; 1Omics Laboratory, Stanford University, Palo Alto, CA USA.; 2Department of Ophthalmology, Byers Eye Institute, Stanford University, 1651 Page Mill Road, Palo Alto, CA 94304 USA.; 3Medical Scientist Training Program, University of Iowa, Iowa City, IA USA.
Bassuk AG; 4Department of Pediatrics, University of Iowa, Iowa City, IA USA.
Mahajan VB; 1Omics Laboratory, Stanford University, Palo Alto, CA USA.; 2Department of Ophthalmology, Byers Eye Institute, Stanford University, 1651 Page Mill Road, Palo Alto, CA 94304 USA.; Palo Alto Veterans Administration, Palo Alto, CA USA.
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Źródło:
Source code for biology and medicine [Source Code Biol Med] 2018 Nov 12; Vol. 13, pp. 3. Date of Electronic Publication: 2018 Nov 12 (Print Publication: 2018).
Typ publikacji:
Journal Article
Czasopismo naukowe

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