Zobrazeno 1 - 10
of 56
pro vyhledávání: '"D J, Prieur"'
Autor:
Reuben M. Buckley, Mark D Kittleson, Robert A. Grahn, Jason R. Herrick, H. L. Bateman, William F. Swanson, J. Newsom, Leslie A. Lyons, D. J. Prieur, Barbara Gandolfi
Publikováno v:
Scientific reports, vol 10, iss 1
Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports
Chediak-Higashi Syndrome (CHS) is a well-characterized, autosomal recessively inherited lysosomal disease caused by mutations in lysosomal trafficking regulator (LYST). The feline model for CHS was originally maintained for ~20 years. However, the co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0256c7bb7bbb91969681497ce8f80958
https://escholarship.org/uc/item/7kq8q2bh
https://escholarship.org/uc/item/7kq8q2bh
Publikováno v:
Veterinary Pathology. 35:230-233
A 5-year-old male Labrador Retriever had progressive incoordination, visual impairment, and exercise intolerance. Coarse facial features, macrodactylia, unilateral corneal dystrophy, generalized osteopenia, progressive neurologic deterioration, and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8257d7badf1a628c8ffc863d0401a3f5
https://doi.org/10.1177/030098589803500311
https://doi.org/10.1177/030098589803500311
Publikováno v:
Veterinary Pathology. 28:332-335
Lysosom al storage diseases are caused by inherited defigangliosidos is has recentl y been characterized." A comparciencies of vario us lysosomal enzymes and result in the proati ve study oflectin bind ing pattern s was per formed on cengress ive sto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b3b78ce9359c2b57beb463507d3491
https://doi.org/10.1177/030098589102800410
https://doi.org/10.1177/030098589102800410
Publikováno v:
The American journal of pathology. 139(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::93baafc3410dba570b10cf14f90a6299
https://pubmed.ncbi.nlm.nih.gov/1750516
https://pubmed.ncbi.nlm.nih.gov/1750516
Publikováno v:
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 4(6)
Ovine GM1 gangliosidosis, an inherited disease of sheep with deficiencies of beta-galactosidase and alpha-neuraminidase, storage of GM1 ganglioside, asialo-GM1 and neutral long chain oligosaccharides in the brain, autosomal recessive inheritance, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::97819c28eefe35eddf15a373719f6c36
https://pubmed.ncbi.nlm.nih.gov/1788267
https://pubmed.ncbi.nlm.nih.gov/1788267
Autor:
M M, Kahraman, D J, Prieur
Publikováno v:
American journal of medical genetics. 40(3)
The autosomal recessive disease Chediak-Higashi syndrome (CHS) is a progressive and generally fatal disease of humans. The underlying genetic defect in CHS is unknown and prenatal diagnostic methods have not been applied to this disease. The purpose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b6d97a6466045fd0ce83108270490466
https://pubmed.ncbi.nlm.nih.gov/1951435
https://pubmed.ncbi.nlm.nih.gov/1951435
Publikováno v:
American journal of medical genetics. 40(2)
Peripheral blood lymphocytes from boxer dogs with a history of cutaneous mast cell tumors were cultured for fragile site expression. As in a control group of dogs, cells from these dogs expressed folate-sensitive autosomal and X chromosome fragile si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8ac4741dc5d9987c8a99f0c359367dc
https://pubmed.ncbi.nlm.nih.gov/1910264
https://pubmed.ncbi.nlm.nih.gov/1910264
Publikováno v:
American journal of medical genetics. 40(2)
Peripheral blood lymphocytes from clinically normal Doberman pinscher and boxer dogs were cultured for folate-sensitive and, in preliminary studies, aphidicolin-inducible fragile site expression. Both autosomal and X chromosomal fragile sites were ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5c9d8211229b8b39f7d5c96e866084cc
https://pubmed.ncbi.nlm.nih.gov/1910263
https://pubmed.ncbi.nlm.nih.gov/1910263
Publikováno v:
Laboratory investigation; a journal of technical methods and pathology. 63(4)
Lysozyme from normal and genetically lysozyme-deficient rabbits was extracted from three types of tissue: leukocytic (bone marrow), lymphoepithelial (thymus and appendix), and gastrointestinal (colon). Extracts were analyzed by electrophoretic, chrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8a9b781d8d472e3c1fcc7df5b884a093
https://pubmed.ncbi.nlm.nih.gov/2232706
https://pubmed.ncbi.nlm.nih.gov/2232706
Publikováno v:
Thrombosis and haemostasis. 64(1)
The ultrastructure of lysosomes from megakaryocytes (MK) and platelets of cattle with the Chediak-Higashi syndrome (CHS) was characterized using acid phosphatase histochemistry with beta-glycerophosphate as substrate and cerium as a capturing agent.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::30ed9386a9c6718eb392da3b50b53c00
https://pubmed.ncbi.nlm.nih.gov/2274921
https://pubmed.ncbi.nlm.nih.gov/2274921