Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ocean L. Pellett"'
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:
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:
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
Publikováno v:
Proceedings of the National Academy of Sciences. 85:3531-3534
Cystinosis is an autosomal recessive disease in which three clinical forms are recognized: infantile nephropathic, with renal tubular damage by 1 year of age and progressive glomerular insufficiency; intermediate, with tubular and glomerular insuffic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::712681cdb5b860475406ba0ac2933987
https://doi.org/10.1073/pnas.85.10.3531
https://doi.org/10.1073/pnas.85.10.3531
Autor:
Wolfgang A. Kroll, Gerald S. Spear, F. L. A. Becker, A. J. Garvin, C. Jacobson, E O Horger rd, V. G. Wong, Jerry A. Schneider, F. M. Verroust, Ocean L. Pellett
Publikováno v:
The New England journal of medicine. 290(16)
We diagnosed cystinosis in an 18-week-old fetus on the basis of an increased content of nonprotein cystine in cultured amniotic-fluid cells. These cells did not contain cystine crystals, a...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0bdbfd4947d58b4976e850c50d405c0
https://pubmed.ncbi.nlm.nih.gov/4816962
https://pubmed.ncbi.nlm.nih.gov/4816962
Publikováno v:
Journal of cellular physiology. 93(1)
Human skin fibroblasts derived from patients with nephropathic cystinosis were transformed with SV40 virions, cloned and permitted to enter the degenerative stage of growth termed "crisis," characteristic of SV40 transformed human cells. Nephropathic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586126b9e45606001bde2b76237c9df3
https://pubmed.ncbi.nlm.nih.gov/198418
https://pubmed.ncbi.nlm.nih.gov/198418
Publikováno v:
Nature. 244(5414)
SINCE the discovery of somatic cell hybridization1 this technique has been used primarily for studies of formal genetics, cell differentiation, and cancer2. This study represents an attempt to use this technique to study a metabolic disease in which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc78b7308730e3ab08a71af3ac1e7f3f
https://pubmed.ncbi.nlm.nih.gov/4583104
https://pubmed.ncbi.nlm.nih.gov/4583104
Autor:
Gerald S. Spear, A. J. Garvin, F. L. A. Becker, E. O. Horger, V. G. Wong, Ocean L. Pellett, F. M. Verroust, Wolfgang A. Kroll, C. Jacobson, Jerry A. Schneider
Publikováno v:
Obstetrical & Gynecological Survey. 29:618-619
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2087ec7ffa48aa83fb00a36ffaeebdf1
https://doi.org/10.1097/00006254-197409000-00014
https://doi.org/10.1097/00006254-197409000-00014
Publikováno v:
Pediatric Research. 15:563-563
I-cell (MLII) fibroblasts have a high free-cystine (cys) content. As in cystinotic (C) cells, the cys is in lysosomes. In cystine-free media with 1mM cysteamine, both cell types lose 50% of their cys in 6-9 min. The rate of loss changes with time, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::65c3df3fead5f05b598d697f8afef926
https://doi.org/10.1203/00006450-198104001-00752
https://doi.org/10.1203/00006450-198104001-00752