Zobrazeno 1 - 7
of 7
pro vyhledávání: '"D J, Wilkin"'
Autor:
E. Jwarah, D. J. Wilkin
Publikováno v:
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology. 26(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f020dc7d13ac602c7ae44032923ebc6
https://pubmed.ncbi.nlm.nih.gov/16753703
https://pubmed.ncbi.nlm.nih.gov/16753703
Publikováno v:
American journal of medical genetics. 94(2)
Stickler syndrome is one of the milder phenotypes resulting from mutations in the gene that encodes type-II collagen, COL2A1. All COL2A1 mutations known to cause Stickler syndrome result in the formation of a premature termination codon within the ty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::807fc432ddf656e5d10d52337364b54b
https://pubmed.ncbi.nlm.nih.gov/10982970
https://pubmed.ncbi.nlm.nih.gov/10982970
Autor:
D J, Wilkin, G R, Mortier, C L, Johnson, M C, Jones, A, de Paepe, M, Shohat, R S, Wildin, R E, Falk, D H, Cohn
Publikováno v:
American journal of medical genetics. 80(2)
The clinical findings of eight families with Stickler syndrome were analyzed and compared with the results of linkage studies using a marker for the type II collagen gene (COL2A1). In six families, there was linkage of the phenotype to COL2A1. The ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1ab371f50bb1fd271b14e70b84b19ab0
https://pubmed.ncbi.nlm.nih.gov/9805127
https://pubmed.ncbi.nlm.nih.gov/9805127
Autor:
D J, Wilkin, P A, Edwards
Publikováno v:
The Journal of biological chemistry. 267(4)
We report that the sterol-mediated suppression of the mRNA levels of three cholesterogenic enzymes, 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase, HMG-CoA synthase, and farnesyl diphosphate (FPP) synthetase is partially overcome by the ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1ef16208f052f5b1e130dc9c50b718e5
https://pubmed.ncbi.nlm.nih.gov/1346397
https://pubmed.ncbi.nlm.nih.gov/1346397
Publikováno v:
Development (Cambridge, England). 109(1)
XIHbox 6 is an early spatially restricted marker for molecular studies of neural induction. The sequence of the full-length XIHbox 6 protein is reported. An antibody raised against a β-galactosidase/XIHbox 6 fusion protein was used to analyze the ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdf213098625a94984a369b9b6bc717b
https://pubmed.ncbi.nlm.nih.gov/1976504
https://pubmed.ncbi.nlm.nih.gov/1976504
Publikováno v:
The Journal of biological chemistry. 265(8)
We report the isolation and nucleotide sequence of the human farnesyl pyrophosphate synthetase cDNA, an enzyme in the cholesterogenic pathway. Partial cDNAs for the human farnesyl pyrophosphate synthetase were isolated by screening human hepatoma (He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c7ed2121f8fb83b2a57bc65765a051a1
https://pubmed.ncbi.nlm.nih.gov/1968462
https://pubmed.ncbi.nlm.nih.gov/1968462