Zobrazeno 1 - 5
of 5
pro vyhledávání: '"S. Kaye Smith"'
Publikováno v:
Journal of Investigative Dermatology. 113:1123-1127
Monilethrix is an autosomal dominant hair disorder characterized by a beaded appearance of the hair due to periodic thinning of the shaft. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. Mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::124370eab6ca22a56edd395f0d902bd2
https://doi.org/10.1046/j.1523-1747.1999.00777.x
https://doi.org/10.1046/j.1523-1747.1999.00777.x
Autor:
William Rhys-Williams, Peter Giles, Angela Sheerin, Dominick G. A. Burton, Jessica J. Lawton, Elizabeth L. Ostler, David Glyn Kipling, Richard G. A. Faragher, S. Kaye Smith
Publikováno v:
Experimental gerontology. 44(10)
Little is known about the senescent phenotype of human vascular smooth muscle cells (VSMCs) and the potential involvement of senescent VSMCs in age-related vascular disease, such as atherosclerosis. As such, VSMCs were grown and characterised in vitr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2655e67d3486c29df7b7cce01e80da9e
https://pubmed.ncbi.nlm.nih.gov/19631729
https://pubmed.ncbi.nlm.nih.gov/19631729
Autor:
Michael Conlon O'Donovan, Bastiaan Hoogendoorn, Sharon Louise Coleman, Carol Guy, Paul Robert Buckland, S. Kaye Smith
Publikováno v:
Human mutation. 26(3)
A considerable proportion of heritable human phenotypic variation is thought to result from altered gene expression. Unfortunately, it is currently impossible to use bioinformatic analysis to discriminate between DNA sequence variants that are likely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a00cd77debf05f3bd14ccafbb01b659
https://pubmed.ncbi.nlm.nih.gov/16086313
https://pubmed.ncbi.nlm.nih.gov/16086313
Autor:
Paul Robert Buckland, Michael Conlon O'Donovan, Carol Guy, Bastiaan Hoogendoorn, Sharon Louise Coleman, S. Kaye Smith
Publikováno v:
Human mutation. 24(1)
Segmental aneusomy, which includes chromosome 22 deletion syndrome (del(22)(q11.2q11.2)), has been associated with DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face (CAF) syndrome, cat-eye syndrome (CES), der(22) syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8d69b0bf9971556140f8c07b039123
https://pubmed.ncbi.nlm.nih.gov/15221787
https://pubmed.ncbi.nlm.nih.gov/15221787
Autor:
Paul Robert Buckland, Michael Conlon O'Donovan, Vahram Haroutunian, S. Kaye Smith, Sharon Louise Coleman, Joseph D. Buxbaum, Carol Guy, Bastiaan Hoogendoorn
Publikováno v:
Biochimica et biophysica acta. 1690(3)
There is increasing interest in the possibility that polymorphisms affecting gene expression are responsible for a significant proportion of heritable human phenotypic variation, including human disease. We have sought to determine if polymorphisms i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::839e24875092683b7d115fa1491c1d2c
https://pubmed.ncbi.nlm.nih.gov/15511631
https://pubmed.ncbi.nlm.nih.gov/15511631