Zobrazeno 1 - 10
of 187
pro vyhledávání: '"R S, Sparkes"'
Autor:
T, Shohat, M, Shohat, G M, Petersen, R S, Sparkes, D, Langfield, J, Bickal, J R, Korenberg, A D, Schwabe, J I, Rotter
Publikováno v:
Clinical Genetics. 38:332-339
Familial Mediterranean fever is an autosomal recessive disease manifested by recurrent short episodes of fever associated with polyserositis. It is common in a variety of Mediterranean and near Eastern populations. The biochemical defect is unknown,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c2948c5dd33eb7f87f5d4dae6675e4e
https://doi.org/10.1111/j.1399-0004.1990.tb03591.x
https://doi.org/10.1111/j.1399-0004.1990.tb03591.x
Publikováno v:
Clinical Genetics. 16:305-310
Two severely mentally retarded patients with a ring chromosome 22 presented with disparate phenotypes: one patient manifested only minimal dysmorphic features, whereas the other had a distinctive pattern of anomalies consisting of an abnormal skull c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e0ced0a6c1e0f89d601a903b7c3731b
https://doi.org/10.1111/j.1399-0004.1979.tb01007.x
https://doi.org/10.1111/j.1399-0004.1979.tb01007.x
Publikováno v:
Clinical Genetics. 4:264-269
A 43-year-old Caucasian man has the unusual concurrence of myotonic dystrophy and 47, XXY Klinefelter syndrome. Two other cases of a similar association are noted from the literature. The apparent increased association of the Klinefelter syndrome and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::445db5ad8438fae21ce823d11b94050f
https://doi.org/10.1111/j.1399-0004.1973.tb01153.x
https://doi.org/10.1111/j.1399-0004.1973.tb01153.x
Autor:
Valentine Lerious, C. Heinzmann, B. J. Austin, James F. McGinnis, Ivana Klisak, Kojis T, J. B. Bateman, R. S. Sparkes
Publikováno v:
Journal of Neuroscience Research. 40:165-168
The gene for the mouse recoverin protein (23 kDa photoreceptor-specific protein, S-modulin, or the Cancer-Associated Retinopathy protein) was recently assigned to mouse chromosome 11, closely linked to trp53. In this paper, the human gene for recover
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbcfe4b121d1f950ec8bf956edf7ad59
https://doi.org/10.1002/jnr.490400204
https://doi.org/10.1002/jnr.490400204
Publikováno v:
Journal of Biological Chemistry. 269:8416-8422
We previously characterized and cloned a unique human hepatic dihydrodiol dehydrogenase (DDH) that exhibits high affinity binding for bile acids (Stolz, A., Hammond, L., Lou, H., Takikawa, H., Ronk, M., and Shively, J. E. (1993) J. Biol. Chem. 268, 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::762a740e89ce32a4347c15859be7e8d7
https://doi.org/10.1016/s0021-9258(17)37210-1
https://doi.org/10.1016/s0021-9258(17)37210-1
Autor:
Carper D, T. K. Mohandas, R. S. Sparkes, C. Heinzmann, Bateman Jb, Nishimura C, Anh Diep, Ivana Klisak, Kojis T
Publikováno v:
Genomics. 17:560-565
Aldose reductase (alditol:NAD(P)+ 1-oxidoreductase; EC 1.1.1.21) (AR) catalyzes the reduction of several aldehydes, including that of glucose, to the corresponding sugar alcohol. Using a complementary DNA clone encoding human AR, we mapped the gene s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02ae456811db01a6129665ea6f2de766
https://doi.org/10.1006/geno.1993.1372
https://doi.org/10.1006/geno.1993.1372
Autor:
K. J. Cruickshanks, C. M. Vadheim, S. E. Moss, M. P. Roth, W. J. Riley, N. K. Maclaren, D. Langfield, R. S. Sparkes, R. Klein, J. I. Rotter
Publikováno v:
Diabetes. 41:879-885
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc34d4982619d269486a9bb2749957a3
https://doi.org/10.2337/diabetes.41.7.879
https://doi.org/10.2337/diabetes.41.7.879
Autor:
R. S. Sparkes, Thaddeus P. Dryja, Gabriel H. Travis, J G Sutcliffe, L Christerson, Ivana Klisak, Patria E. Danielson, L B Hahn
Publikováno v:
Genomics. 10:733-739
Retinal degeneration slow (rds) is a mouse neurological mutation that is characterized phenotypically by abnormal development of rod and cone photoreceptors followed by their slow degeneration. This phenotype resembles the pathologic abnormalities se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ddc08754a11b7b4885007023df8ee15
https://doi.org/10.1016/0888-7543(91)90457-p
https://doi.org/10.1016/0888-7543(91)90457-p
Autor:
M. Shohat, Dolly B. Tyan, R. S. Sparkes, Jerome I. Rotter, Sue-Jane Wang, A. D. Schwabe, T. Shohat
Publikováno v:
Tissue Antigens. 36:103-107
Familial Mediterranean Fever (FMF) is an autosomal recessive disease manifested by recurrent short episodes of fever associated with polyzerositis. Although the biochemical defect is unknown, there are several immunologic abnormalities which have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03e0aa8577cec71a44e3971dfeeca127
https://doi.org/10.1111/j.1399-0039.1990.tb01809.x
https://doi.org/10.1111/j.1399-0039.1990.tb01809.x
Autor:
R. S. Sparkes, D. R. Stanford, Ivana Klisak, K. Neiswanger, C. Heinzmann, T. K. Mohandas, Eric D. Wieben, Darryl Y. Nishimura
Publikováno v:
Genomics. 7:503-508
Small nuclear ribonucleoproteins (snRNPs), which are composed of various U RNAs and several proteins, are components of the mRNA splicing apparatus. The snRNP protein E is encoded by a multigene family which consists of a single expressed gene and se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c81552da349a42547a690ae0eafaea6a
https://doi.org/10.1016/0888-7543(90)90192-w
https://doi.org/10.1016/0888-7543(90)90192-w