567 results on '"Sly, William S."'
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2. Carbonic Anhydrase IV and XIV Knockout Mice: Roles of the Respective Carbonic Anhydrases in Buffering the Extracellular Space in Brain
3. Overcoming the Blood-Brain Barrier with High-Dose Enzyme Replacement Therapy in Murine Mucopolysaccharidosis VII
4. Jade-1, a Candidate Renal Tumor Suppressor That Promotes Apoptosis
5. Slc7a11 Gene Controls Production of Pheomelanin Pigment and Proliferation of Cultured Cells
6. Carbonic Anhydrase XIV Is Enriched in Specific Membrane Domains of Retinal Pigment Epithelium, Müller Cells, and Astrocytes
7. Caspase Inhibition Reduces Tubular Apoptosis and Proliferation and Slows Disease Progression in Polycystic Kidney Disease
8. HLA-B*5801 Allele as a Genetic Marker for Severe Cutaneous Adverse Reactions Caused by Allopurinol
9. Rapid Biogenesis and Sensitization of Secretory Lysosomes in NK Cells Mediated by Target-Cell Recognition
10. Identification and Proteomic Profiling of Exosomes in Human Urine
11. Developmentally Regulated Mannose 6-Phosphate Receptor-Mediated Transport of a Lysosomal Enzyme across the Blood-Brain Barrier
12. Chemical Chaperones Protect from Effects of Apoptosis-Inducing Mutation in Carbonic Anhydrase IV Identified in Retinitis Pigmentosa 17
13. Apoptosis-Inducing Signal Sequence Mutation in Carbonic Anhydrase IV Identified in Patients with the RP17 Form of Retinitis Pigmentosa
14. Glycosylation-Independent Targeting Enhances Enzyme Delivery to Lysosomes and Decreases Storage in Mucopolysaccharidosis Type VII Mice
15. Contribution of the H63D Mutation in HFE to Murine Hereditary Hemochromatosis
16. Transgene Produces Massive Overexpression of Human β-Glucuronidase in Mice, Lysosomal Storage of Enzyme, and Strain-Dependent Tumors
17. Missense Models [Gus tm(E536A)Sly , Gus tm(E536Q)Sly , and Gus tm(L175F)Sly ] of Murine Mucopolysaccharidosis Type VII Produced by Targeted Mutagenesis
18. Targeted Mutagenesis of the Murine Transferrin Receptor-2 Gene Produces Hemochromatosis
19. Iron Uptake from Plasma Transferrin by the Duodenum is Impaired in the Hfe Knockout Mouse
20. Regulation of Transferrin-Mediated Iron Uptake by HFE, The Protein Defective in Hereditary Hemochromatosis
21. Crystal Structure of the Dimeric Extracellular Domain of Human Carbonic Anhydrase XII, A Bitopic Membrane Protein Overexpressed in Certain Cancer Tumor Cells
22. Naturally Variant Autosomal and Sex-Linked Loci Determine the Severity of Iron Overload in β 2 -Microglobulin-Deficient Mice
23. Mouse Strain Differences Determine Severity of Iron Accumulation in Hfe Knockout Model of Hereditary Hemochromatosis
24. Active Site Mutant Transgene Confers Tolerance to Human β-Glucuronidase without Affecting the Phenotype of MPS VII Mice
25. Expression of Membrane-Associated Carbonic Anhydrase XIV on Neurons and Axons in Mouse and Human Brain
26. Transferrin Receptor 2: Continued Expression in Mouse Liver in the Face of Iron Overload and in Hereditary Hemochromatosis
27. Carbonic Anhydrase Inhibitor Suppresses Invasion of Renal Cancer Cells in vitro
28. Mitochondrial Carbonic Anhydrase CA VB: Differences in Tissue Distribution and Pattern of Evolution from Those of CA VA Suggest Distinct Physiological Roles
29. Mechanism of Increased Iron Absorption in Murine Model of Hereditary Hemochromatosis: Increased Duodenal Expression of the Iron Transporter DMT1
30. Association of HFE Protein with Transferrin Receptor in Crypt Enterocytes of Human Duodenum
31. Human Carbonic Anhydrase XII: cDNA Cloning, Expression, and Chromosomal Localization of a Carbonic Anhydrase Gene that is Overexpressed in Some Renal Cell Cancers
32. HFE Gene Knockout Produces Mouse Model of Hereditary Hemochromatosis
33. Intrinsic thermodynamics of high affinity inhibitor binding to recombinant human carbonic anhydrase IV
34. Association of the Transferrin Receptor in Human Placenta with HFE, the Protein Defective in Hereditary Hemochromatosis
35. Hereditary Hemochromatosis: Effects of C282Y and H63D Mutations on Association with β 2 -microglobulin, Intracellular Processing, and Cell Surface Expression of the HFE Protein in COS-7 Cells
36. Immunohistochemistry of HLA-H, the Protein Defective in Patients with Hereditary Hemochromatosis, Reveals Unique Pattern of Expression in Gastrointestinal Tract
37. Adenovirus-Mediated Gene Transfer and Expression of Human β -glucuronidase Gene in the Liver, Spleen, and Central Nervous System in Mucopolysaccharidosis Type VII Mice
38. Gly-63 → Gln Substitution Adjacent to His-64 in Rodent Carbonic Anhydrase IVs Largely Explains their Reduced Activity
39. Crystal Structure of the Secretory Form of Membrane-Associated Human Carbonic Anhydrase IV at 2.8- angstrom Resolution
40. Normal Fertility Requires the Expression of Carbonic Anhydrases II and IV in Sperm
41. Therapies for the bone in mucopolysaccharidoses
42. First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient
43. Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: Early treatment rescues bone lesions?
44. Brain-Directed Gene Therapy for Lysosomal Storage Disease: Going Well beyond the Blood-Brain Barrier
45. Carbonic anhydrase IX in malignant pleural mesotheliomas: A potential target for anti-cancer therapy
46. Effect of sulfonamides as carbonic anhydrase VA and VB inhibitors on mitochondrial metabolic energy conversion
47. Structure, function and applications of carbonic anhydrase isozymes
48. Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism
49. GPI-anchored carbonic anhydrase IV displays both intra- and extracellular activity in cRNA-injected oocytes and in mouse neurons
50. Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII
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