Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Margaret L. Smith"'
Publikováno v:
Journal of Glaucoma
Purpose The coronavirus (COVID-19) pandemic has had a profound impact on how glaucoma care is delivered, necessitating reduced clinic flow, social distancing, and use of face coverings by patients and staff. This case highlights the need to be aware
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83b22934c246269d2d8d50f70077af0f
https://pubmed.ncbi.nlm.nih.gov/32675556
https://pubmed.ncbi.nlm.nih.gov/32675556
Autor:
Xiao-Yun Hua, Nancy G. Kennaway, Richard H. Haas, Margaret L. Smith, Deborah Marsden, Kim-Yen Ngo, Dou Liu
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 82:2826-2831
A 6-yr-old boy presented with muscle weakness, lactic acidemia, and insulin-dependent diabetes mellitus (IDDM). Using PCR and restriction enzyme analysis, he was found to have the classical A3243G mitochondrial DNA (mtDNA) mutation frequently associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52acd0212af535b8e1f704267ae39ba7
https://doi.org/10.1210/jcem.82.9.4222
https://doi.org/10.1210/jcem.82.9.4222
Autor:
Frederick J. Kaskel, Jerry A. Schneider, Margaret L. Smith, Karen Weissbecker, Alice A. Greene, Denise David, Michael Dean, Lori A. Smolin, Timothy C. Cahill, Ocean L. Pellett
Publikováno v:
American Journal of Medical Genetics. 39:84-90
We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of Bartter syndrome, a finding reported previously in both of these diseases (CF and cystinosis). The chance of an individual inheriting a mutant allele fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c9b8ecf2d885cc9da56e5448366e58b
https://doi.org/10.1002/ajmg.1320390119
https://doi.org/10.1002/ajmg.1320390119
Autor:
Gary D. Shackelford, Barbara R. Cole, Jerry A. Schneider, John M. Kissane, Samuel So, Margaret L. Smith, Jill Cottel, Raoul D. Nelson, Suzanne Merrill, Eric Marcusson, H. William Schnaper
Publikováno v:
The Journal of pediatrics. 120(4 Pt 1)
We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3de4e8139daba0558caa0c1c58a79cef
https://pubmed.ncbi.nlm.nih.gov/1552398
https://pubmed.ncbi.nlm.nih.gov/1552398
Publikováno v:
Journal of Biological Chemistry. 257:13185-13188
Lysosomes containing large amounts of the amino acid, cystine, were obtained from transformed, cultured, human lymphoblasts which had been exposed to cystine dimethyl ester. Lysosomal cystine efflux was greatly enhanced by exogenous ATP in cell lines
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77f2848e8b88c695547bbcb487541d42
https://doi.org/10.1016/s0021-9258(18)33425-2
https://doi.org/10.1016/s0021-9258(18)33425-2
Publikováno v:
Proceedings of the National Academy of Sciences. 79:4442-4445
Cystinotic fibroblasts contain approximately 100 times more cystine than do normal control fibroblasts. When cystinotic fibroblasts were placed in the presence of 30 mM cysteine-glutathione mixed disulfide (CSSG) for 24 hr, their cystine content incr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ec63e32cbd1f38fc5220b24dc38dbe2
https://doi.org/10.1073/pnas.79.14.4442
https://doi.org/10.1073/pnas.79.14.4442
Autor:
Nancy G. Kennaway, Gerald S. Spear, M. M. J. Cass, M S Golbus, N. R. M. Buist, Jerry A. Schneider, Margaret L. Smith, Ocean L. Pellett, John G. Buckmaster
Publikováno v:
Prenatal Diagnosis. 7:23-26
The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d142b29dec4c46ef6600d8b0a620fa3
https://doi.org/10.1002/pd.1970070105
https://doi.org/10.1002/pd.1970070105
Publikováno v:
New England Journal of Medicine. 319:223-226
CYSTINOSIS is an autosomal recessive disorder characterized by intracellular accumulation of cystine due to failure of the normal carrier-mediated system that transports cystine out of lysosomes.1 ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22202004b5b281215c6c635f7555f91e
https://doi.org/10.1056/nejm198807283190406
https://doi.org/10.1056/nejm198807283190406
Publikováno v:
In Vitro. 20:53-58
Renal cell cultures were initiated using fresh autopsy material from two individuals with cystinosis, ages 5 and 8 yr. Cells obtained from collagenase treated autopsy material were grown in a selective kidney medium containing Coon's modified F12, 2.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c54e49c9bafd8cc378aa771fd76554
https://doi.org/10.1007/bf02633332
https://doi.org/10.1007/bf02633332
Autor:
P K Laikind, Adam J. Jonas, Margaret L. Smith, Alice A. Greene, Jerry A. Schneider, W S Allison
Publikováno v:
Journal of Biological Chemistry. 258:11727-11730
A proton-translocating ATPase was identified in highly purified lysosomes from Epstein-Barr virus-transformed human lymphoblasts. Activity of this ATPase caused acidification of highly purified, fluorescein isothiocyanate dextran-loaded lysosomes and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::454c10acd6a736604f022f0494a3f44e
https://doi.org/10.1016/s0021-9258(17)44289-x
https://doi.org/10.1016/s0021-9258(17)44289-x