Autor: "Kan SH" - OpacWWW - Prolib Integro

Skocz do pozycji: 1.

Tytuł:: CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.
Autorzy:: Kan SH; CHOC Children's Research Institute, Orange, CA, 92868, USA.
Huang JY; CHOC Children's Research Institute, Orange, CA, 92868, USA.
Harb J; CHOC Children's Research Institute, Orange, CA, 92868, USA.
Rha A; CHOC Children's Research Institute, Orange, CA, 92868, USA.
Dalton ND; CHOC Children's Research Institute, Orange, CA, 92868, USA.
Christensen C; CHOC Children's Research Institute, Orange, CA, 92868, USA.
Chan Y; School of Medicine, New York Medical College, Valhalla, NY, 10595, USA.
Davis-Turak J; ROSALIND, San Diego, CA, 92126, USA.
Neumann J; Transgenic Mouse Facility, University of California Irvine, Irvine, CA, 92697, USA.
Wang RY; Division of Metabolic Disorders, CHOC Children's Specialists, Orange, CA, 92868, USA. .; Department of Pediatrics, University of California-Irvine, Irvine, CA, 92697, USA. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2022 Dec 14; Vol. 12 (1), pp. 21576. Date of Electronic Publication: 2022 Dec 14.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: alpha-Glucosidases*/genetics
alpha-Glucosidases*/metabolism
Cardiomyopathy, Hypertrophic*/genetics
Cardiomyopathy, Hypertrophic*/metabolism
Cardiomyopathy, Hypertrophic*/pathology
Glycogen Storage Disease Type II*/genetics
Glycogen Storage Disease Type II*/metabolism
Glycogen Storage Disease Type II*/pathology
Animals ; Humans ; Infant ; Mice ; Disease Models, Animal ; Glucan 1,4-alpha-Glucosidase ; Glycogen/metabolism ; Muscle, Skeletal/metabolism

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Tytuł:: CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.
Autorzy:: Huang JY; CHOC Children's Research Institute, Orange, CA, 92868, USA. .
Kan SH; CHOC Children's Research Institute, Orange, CA, 92868, USA.
Sandfeld EK; CHOC Children's Research Institute, Orange, CA, 92868, USA.
Dalton ND; Department of Medicine, University of California San Diego, La Jolla, CA, 92093, USA.
Rangel AD; CHOC Children's Research Institute, Orange, CA, 92868, USA.
Chan Y; Department of Medicine, University of California San Diego, La Jolla, CA, 92093, USA.
Davis-Turak J; OnRamp BioInformatics, Inc., San Diego, CA, 92121, USA.
Neumann J; Transgenic Mouse Facility, University of California Irvine, Irvine, CA, 92697, USA.
Wang RY; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA, 92697, USA.; Division of Metabolic Disorders, CHOC Children's Specialists, Orange, CA, 92868, USA.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2020 Jun 25; Vol. 10 (1), pp. 10321. Date of Electronic Publication: 2020 Jun 25.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Cardiomyopathy, Hypertrophic/*genetics
Glycogen Storage Disease Type II/*genetics
Muscle Weakness/*genetics
alpha-Glucosidases/*genetics
Age of Onset ; Animals ; CRISPR-Cas Systems/genetics ; Cardiomyopathy, Hypertrophic/pathology ; Disease Models, Animal ; Female ; Gene Knock-In Techniques ; Glycogen/metabolism ; Glycogen Storage Disease Type II/complications ; Humans ; Infant ; Male ; Mice ; Mice, Transgenic ; Muscle Weakness/pathology ; Muscle Weakness/physiopathology ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiopathology ; Myocardium/pathology ; RNA, Guide, CRISPR-Cas Systems/genetics ; alpha-Glucosidases/metabolism

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Tytuł:: Identification and characterization of multiple splice forms of the human interleukin-23 receptor alpha chain in mitogen-activated leukocytes.
Autorzy:: Kan SH; Genetic Immunology Laboratory, HUMIGEN LLC, The Institute for Genetic Immunology, Hamilton, NJ 08690, USA.
Mancini G
Gallagher G; Pokaż więcej
Źródło:: Genes and immunity [Genes Immun] 2008 Oct; Vol. 9 (7), pp. 631-9. Date of Electronic Publication: 2008 Aug 28.
Typ publikacji:: Comparative Study; Journal Article
MeSH Terms:: Alternative Splicing/*immunology
Leukocytes, Mononuclear/*immunology
Leukocytes, Mononuclear/*metabolism
Mitogens/*pharmacology
Receptors, Interleukin/*genetics
Cells, Cultured ; Crohn Disease/genetics ; Crohn Disease/immunology ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Leukocytes, Mononuclear/chemistry ; Lymphocyte Activation/genetics ; Protein Isoforms/biosynthesis ; Protein Isoforms/chemistry ; Protein Isoforms/genetics ; Protein Subunits/biosynthesis ; Protein Subunits/chemistry ; Protein Subunits/genetics ; Receptors, Interleukin/biosynthesis ; Receptors, Interleukin/chemistry

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Skocz do pozycji: 4.

Tytuł:: A novel insertion variant of the human IL-23 receptor-alpha chain transcript.
Autorzy:: Mancini G; Genetic Immunology Laboratory, HUMIGEN LLC, The Institute for Genetic Immunology, Hamilton, NJ, USA.
Kan SH
Gallagher G; Pokaż więcej
Źródło:: Genes and immunity [Genes Immun] 2008 Sep; Vol. 9 (6), pp. 566-9. Date of Electronic Publication: 2008 Jul 10.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutagenesis, Insertional*
Receptors, Interleukin/*genetics
Base Sequence ; Exons ; Humans ; Leukocytes, Mononuclear/metabolism ; Molecular Sequence Data ; RNA Splice Sites ; Receptors, Interleukin/chemistry ; Receptors, Interleukin/metabolism

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